#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
SLITRK5	26050	broad.mit.edu	37	13	88329124	88329124	+	Missense_Mutation	SNP	G	G	A	rs139493330	byFrequency	TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr13:88329124G>A	ENST00000325089.6	+	2	1700	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R253H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	494					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATCTCATCCGCGAGATTCAG	0.542																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1480-1482)cGc>cAc		SLIT and NTRK-like family, member 5							76.0	78.0	78.0					13																	88329124		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329124G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1481G>A	13.37:g.88329124G>A	ENSP00000366283:p.Arg494His					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R253H	p.R494H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1700	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		494					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1481G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422913	0.25639	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.83755	0.63;-1.76	5.23	5.23	0.72850	.	0.069051	0.64402	D	0.000012	T	0.67306	0.2879	N	0.20483	0.58	0.39988	D	0.975003	P;B	0.39576	0.679;0.425	B;B	0.34038	0.174;0.097	T	0.67703	-0.5602	9	.	.	.	-14.5966	9.8421	0.41004	0.0934:0.0:0.9066:0.0	.	253;494	B4DSH5;O94991	.;SLIK5_HUMAN	H	494;253	ENSP00000366283:R494H;ENSP00000442244:R253H	.	R	+	2	0	SLITRK5	87127125	0.832000	0.29368	0.647000	0.29507	0.887000	0.51463	3.936000	0.56568	2.426000	0.82243	0.561000	0.74099	CGC		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	96	0	0	0	1	0	8	96				
LRRK2	120892	broad.mit.edu	37	12	40716261	40716261	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:40716261G>A	ENST00000298910.7	+	37	5516	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1820					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)				TAATGATGGTGAAGAACATCA	0.348																																						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.(5458-5460)Gaa>Aaa		leucine-rich repeat kinase 2							126.0	126.0	126.0					12																	40716261		2203	4300	6503	SO:0001583	missense	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.chr12:40716261G>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.5458G>A	12.37:g.40716261G>A	ENSP00000298910:p.Glu1820Lys						p.E1820K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			37	5516	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1820					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5458G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079726	0.55753	.	.	ENSG00000188906	ENST00000298910	T	0.72942	-0.7	5.58	5.58	0.84498	.	0.108393	0.64402	D	0.000005	T	0.51753	0.1693	N	0.08118	0	0.42493	D	0.992906	B;B	0.27013	0.166;0.166	B;B	0.23018	0.043;0.043	T	0.53479	-0.8433	10	0.44086	T	0.13	.	15.0937	0.72217	0.0:0.1412:0.8588:0.0	.	1820;1820	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	1820	ENSP00000298910:E1820K	ENSP00000298910:E1820K	E	+	1	0	LRRK2	39002528	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	4.309000	0.59135	2.602000	0.87976	0.650000	0.86243	GAA		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		33	50	0	0	0	1	0	33	50				
KLHL15	80311	broad.mit.edu	37	X	24006924	24006924	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chrX:24006924A>G	ENST00000328046.8	-	4	1184	c.929T>C	c.(928-930)cTa>cCa	p.L310P		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	310					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGGGCCTTCTAGCTCCCACCA	0.463																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(928-930)cTa>cCa		kelch-like family member 15							96.0	86.0	90.0					X																	24006924		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006924A>G	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.929T>C	X.37:g.24006924A>G	ENSP00000332791:p.Leu310Pro						p.L310P	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1184	-			310					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.929T>C	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384213	0.25031	.	.	ENSG00000174010	ENST00000328046	T	0.71934	-0.61	5.48	5.48	0.80851	Kelch-type beta propeller (1);	0.069777	0.64402	D	0.000013	T	0.65913	0.2737	N	0.19112	0.55	0.80722	D	1	D	0.57257	0.979	P	0.50490	0.642	T	0.71619	-0.4538	10	0.72032	D	0.01	.	14.8113	0.69996	1.0:0.0:0.0:0.0	.	310	Q96M94	KLH15_HUMAN	P	310	ENSP00000332791:L310P	ENSP00000332791:L310P	L	-	2	0	KLHL15	23916845	1.000000	0.71417	0.808000	0.32385	0.072000	0.16883	8.910000	0.92685	1.947000	0.56498	0.425000	0.28330	CTA		0.463	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		3	55	0	0	0	1	0	3	55				
STOX2	56977	broad.mit.edu	37	4	184930356	184930356	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr4:184930356C>T	ENST00000308497.4	+	3	1800	c.365C>T	c.(364-366)aCg>aTg	p.T122M	STOX2_ENST00000438269.1_Missense_Mutation_p.T122M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	122					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACGCTGAACACGCTGGTACGG	0.438																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(364-366)aCg>aTg		storkhead box 2							57.0	52.0	53.0					4																	184930356		1928	4161	6089	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930356C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.365C>T	4.37:g.184930356C>T	ENSP00000311257:p.Thr122Met					STOX2_ENST00000438269.1_Missense_Mutation_p.T122M	p.T122M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1800	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	122					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.365C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038588	0.19669	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.77620	-1.11;-1.11;-1.11	5.55	4.63	0.57726	Storkhead-box protein, winged-helix domain (1);	0.041536	0.85682	D	0.000000	T	0.48696	0.1514	N	0.03324	-0.35	0.43782	D	0.996319	B	0.15930	0.015	B	0.09377	0.004	T	0.48885	-0.8995	10	0.16420	T	0.52	-19.7991	4.6257	0.12477	0.0:0.7364:0.0:0.2636	.	122	Q9P2F5	STOX2_HUMAN	M	122;122;60	ENSP00000311257:T122M;ENSP00000390127:T122M;ENSP00000425388:T60M	ENSP00000311257:T122M	T	+	2	0	STOX2	185167350	1.000000	0.71417	0.981000	0.43875	0.967000	0.64934	4.820000	0.62671	2.894000	0.99253	0.655000	0.94253	ACG		0.438	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	28	0	0	0	1	0	4	28				
CDC42BPG	55561	broad.mit.edu	37	11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A	rs200874110		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr11:64601218G>A	ENST00000342711.5	-	22	2556	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(2557-2559)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							36.0	40.0	39.0					11																	64601218		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64601218G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2557C>T	11.37:g.64601218G>A	ENSP00000345133:p.Arg853Cys						p.R853C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			22	2556	-			853						Missense_Mutation	SNP	ENST00000342711.5	37	c.2557C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530481	0.64860	.	.	ENSG00000171219	ENST00000342711	T	0.68765	-0.35	5.18	5.18	0.71444	.	0.320083	0.22057	N	0.065235	T	0.57388	0.2050	N	0.08118	0	0.52501	D	0.999951	D	0.76494	0.999	P	0.51806	0.68	T	0.65417	-0.6173	10	0.62326	D	0.03	.	14.5737	0.68229	0.0:0.0:1.0:0.0	.	853	Q6DT37	MRCKG_HUMAN	C	853	ENSP00000345133:R853C	ENSP00000345133:R853C	R	-	1	0	CDC42BPG	64357794	0.969000	0.33509	0.998000	0.56505	0.184000	0.23303	5.003000	0.63959	2.595000	0.87683	0.561000	0.74099	CGC		0.687	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		16	39	0	0	0	1	0	16	39				
MC4R	4160	broad.mit.edu	37	18	58039090	58039090	+	Missense_Mutation	SNP	G	G	A	rs13447332		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr18:58039090G>A	ENST00000299766.3	-	1	911	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	165			R -> Q (in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332). {ECO:0000269|PubMed:12588803, ECO:0000269|PubMed:12646665, ECO:0000269|PubMed:15486053}.|R -> W (in obesity; dbSNP:rs13447332). {ECO:0000269|PubMed:10199800}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ATCCCAACCCGCTTAACTGTC	0.433																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17	GRCh37	CM990834	MC4R	M	rs13447332	c.(493-495)Cgg>Tgg		melanocortin 4 receptor							93.0	84.0	87.0					18																	58039090		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039090G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.493C>T	18.37:g.58039090G>A	ENSP00000299766:p.Arg165Trp						p.R165W	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	911	-		Colorectal(73;0.0946)	165		R -> Q (in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332).|R -> W (in obesity; dbSNP:rs13447332).			B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.493C>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638497	0.67130	.	.	ENSG00000166603	ENST00000299766	T	0.41065	1.01	5.85	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	H	0.97896	4.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.83351	-0.0003	10	0.87932	D	0	.	12.1827	0.54221	0.0:0.0:0.7075:0.2925	rs13447332	165	P32245	MC4R_HUMAN	W	165	ENSP00000299766:R165W	ENSP00000299766:R165W	R	-	1	2	MC4R	56190070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.610000	0.46325	2.773000	0.95371	0.655000	0.94253	CGG		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		42	15	0	0	0	1	0	42	15				
AHR	196	broad.mit.edu	37	7	17379808	17379808	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr7:17379808C>G	ENST00000242057.4	+	10	3002	c.2359C>G	c.(2359-2361)Cag>Gag	p.Q787E		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	787					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GGGTCAGATGCAGTACAATCC	0.448																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2359-2361)Cag>Gag		aryl hydrocarbon receptor							62.0	64.0	63.0					7																	17379808		2187	4299	6486	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379808C>G	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2359C>G	7.37:g.17379808C>G	ENSP00000242057:p.Gln787Glu						p.Q787E	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	3002	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		787					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.2359C>G	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643082	0.47153	.	.	ENSG00000106546	ENST00000242057	T	0.54071	0.59	5.25	5.25	0.73442	.	0.560712	0.19160	N	0.121215	T	0.55226	0.1907	M	0.73962	2.25	0.37648	D	0.922319	P	0.38992	0.653	B	0.38020	0.263	T	0.58618	-0.7605	10	0.15499	T	0.54	.	19.0552	0.93062	0.0:1.0:0.0:0.0	.	787	P35869	AHR_HUMAN	E	787	ENSP00000242057:Q787E	ENSP00000242057:Q787E	Q	+	1	0	AHR	17346333	0.999000	0.42202	0.985000	0.45067	0.595000	0.36748	2.230000	0.42999	2.729000	0.93468	0.650000	0.86243	CAG		0.448	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		33	48	0	0	0	1	0	33	48				
KCNK17	89822	broad.mit.edu	37	6	39278711	39278711	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:39278711C>T	ENST00000373231.4	-	2	542	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	KCNK17_ENST00000453413.2_Missense_Mutation_p.V104M	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	104					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AAGGAGCCCACGAGCTCCCAG	0.607																																						ENST00000453413.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(310-312)Gtg>Atg		potassium channel, subfamily K, member 17							103.0	102.0	102.0					6																	39278711		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39278711C>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.310G>A	6.37:g.39278711C>T	ENSP00000362328:p.Val104Met					KCNK17_ENST00000373231.4_Missense_Mutation_p.V104M	p.V104M	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN			2	450	-			104					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.310G>A	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	8.321	0.824301	0.16678	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.30981	1.51;1.51	5.42	-0.612	0.11597	Ion transport 2 (1);	0.855857	0.09832	N	0.750094	T	0.05686	0.0149	L	0.41415	1.275	0.09310	N	1	P;B	0.42039	0.769;0.283	B;B	0.29663	0.105;0.064	T	0.23726	-1.0180	10	0.36615	T	0.2	.	3.8875	0.09105	0.1051:0.5297:0.1038:0.2614	.	104;104	E9PB46;Q96T54	.;KCNKH_HUMAN	M	104	ENSP00000362328:V104M;ENSP00000401271:V104M	ENSP00000362328:V104M	V	-	1	0	KCNK17	39386689	0.000000	0.05858	0.003000	0.11579	0.637000	0.38172	-1.016000	0.03633	-0.839000	0.04212	-1.628000	0.00784	GTG		0.607	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		23	41	0	0	0	1	0	23	41				
AURKAIP1	54998	broad.mit.edu	37	1	1309670	1309670	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr1:1309670A>C	ENST00000338370.3	-	2	608	c.208T>G	c.(208-210)Tcc>Gcc	p.S70A	AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70A|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70A|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70A			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	70					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCTGACGGACATCTTCCTG	0.677																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(208-210)Tcc>Gcc		aurora kinase A interacting protein 1							29.0	35.0	33.0					1																	1309670		2203	4294	6497	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309670A>C		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.208T>G	1.37:g.1309670A>C	ENSP00000342676:p.Ser70Ala					AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70A|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70A|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70A	p.S70A			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	608	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	70					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.208T>G	CCDS25.1	.	.	.	.	.	.	.	.	.	.	a	13.39	2.223405	0.39300	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.16	1.48	0.22813	.	0.231837	0.37053	N	0.002273	T	0.27933	0.0688	L	0.42487	1.325	0.24072	N	0.995973	B	0.06786	0.001	B	0.06405	0.002	T	0.19549	-1.0302	10	0.25751	T	0.34	-7.4649	12.022	0.53348	0.3736:0.6264:0.0:0.0	.	70	Q9NWT8	AKIP_HUMAN	A	70	ENSP00000340656:S70A;ENSP00000342676:S70A;ENSP00000319778:S70A;ENSP00000368130:S70A	ENSP00000319778:S70A	S	-	1	0	AURKAIP1	1299533	1.000000	0.71417	0.982000	0.44146	0.882000	0.50991	1.208000	0.32345	0.363000	0.24346	0.533000	0.62120	TCC		0.677	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		6	29	0	0	0	1	0	6	29				
MYH15	22989	broad.mit.edu	37	3	108175727	108175727	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:108175727A>G	ENST00000273353.3	-	20	2140	c.2084T>C	c.(2083-2085)aTa>aCa	p.I695T	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	695	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGGTCCAGTATACCTGGAAA	0.418																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2083-2085)aTa>aCa		myosin, heavy chain 15							106.0	97.0	100.0					3																	108175727		1830	4084	5914	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108175727A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2084T>C	3.37:g.108175727A>G	ENSP00000273353:p.Ile695Thr					MYH15_ENST00000495753.2_5'UTR	p.I695T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			20	2140	-			695			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2084T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319456	0.23994	.	.	ENSG00000144821	ENST00000273353	D	0.86497	-2.13	5.97	0.581	0.17407	Myosin head, motor domain (2);	.	.	.	.	T	0.74935	0.3782	N	0.20610	0.595	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.62459	-0.6850	9	0.66056	D	0.02	.	4.0245	0.09680	0.456:0.0:0.1924:0.3517	.	695	Q9Y2K3	MYH15_HUMAN	T	695	ENSP00000273353:I695T	ENSP00000273353:I695T	I	-	2	0	MYH15	109658417	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.224000	0.17738	-0.117000	0.11872	0.482000	0.46254	ATA		0.418	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		55	73	0	0	0	1	0	55	73				
ANKRD33	341405	broad.mit.edu	37	12	52284523	52284523	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:52284523G>C	ENST00000340970.4	+	5	789	c.418G>C	c.(418-420)Gcc>Ccc	p.A140P	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.A265P|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A71P			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	140					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGAGTGGCCGGCCTTGTCCGG	0.667																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(793-795)Gcc>Ccc		ankyrin repeat domain 33							19.0	21.0	21.0					12																	52284523		2203	4299	6502	SO:0001583	missense	341405							g.chr12:52284523G>C		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.418G>C	12.37:g.52284523G>C	ENSP00000344690:p.Ala140Pro					ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A71P|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A140P	p.A265P	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1020	+			140					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.793G>C	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947808	0.18356	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.23754	2.01;1.89;2.35	4.7	1.29	0.21616	.	0.382752	0.26840	N	0.022237	T	0.12860	0.0312	N	0.19112	0.55	0.20196	N	0.999929	B;B;B	0.24186	0.06;0.099;0.011	B;B;B	0.22753	0.011;0.041;0.018	T	0.25257	-1.0137	10	0.22706	T	0.39	0.1423	6.3382	0.21309	0.123:0.3304:0.5465:0.0	.	140;71;265	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	P	265;71;140	ENSP00000301190:A265P;ENSP00000443722:A71P;ENSP00000344690:A140P	ENSP00000301190:A265P	A	+	1	0	ANKRD33	50570790	0.006000	0.16342	0.467000	0.27180	0.714000	0.41099	1.398000	0.34554	0.126000	0.18424	0.561000	0.74099	GCC		0.667	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		5	11	0	0	0	1	0	5	11				
FAT3	120114	broad.mit.edu	37	11	92534829	92534829	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr11:92534829G>A	ENST00000298047.6	+	9	8667	c.8650G>A	c.(8650-8652)Gag>Aag	p.E2884K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2734K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2884K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2884	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2884K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAGATCACGAGACAGACCC	0.512										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			1	Substitution - Missense(1)	p.E2884K(1)	skin(1)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8650-8652)Gag>Aag		FAT atypical cadherin 3							89.0	93.0	92.0					11																	92534829		2109	4228	6337	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534829G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8650G>A	11.37:g.92534829G>A	ENSP00000298047:p.Glu2884Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.E2734K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2884K	p.E2884K			Q8TDW7	FAT3_HUMAN			9	8667	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2884			Cadherin 26.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8650G>A		.	.	.	.	.	.	.	.	.	.	G	28.6	4.931088	0.92389	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.72394	-0.65;-0.65;-0.65	6.04	6.04	0.98038	.	.	.	.	.	D	0.89591	0.6759	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89840	0.4002	9	0.42905	T	0.14	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2884	Q8TDW7-3	.	K	2884;2884;2734	ENSP00000298047:E2884K;ENSP00000387040:E2884K;ENSP00000432586:E2734K	ENSP00000298047:E2884K	E	+	1	0	FAT3	92174477	1.000000	0.71417	0.973000	0.42090	0.907000	0.53573	9.787000	0.99055	2.873000	0.98535	0.563000	0.77884	GAG		0.512	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	40	0	0	0	1	0	6	40				
PPFIBP1	8496	broad.mit.edu	37	12	27842018	27842018	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:27842018T>A	ENST00000318304.8	+	26	2868	c.2585T>A	c.(2584-2586)cTg>cAg	p.L862Q	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L709Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L856Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L831Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	862	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGACTTTGCTGCGAAGACAT	0.433																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2584-2586)cTg>cAg		PTPRF interacting protein, binding protein 1 (liprin beta 1)							124.0	111.0	115.0					12																	27842018		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27842018T>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2585T>A	12.37:g.27842018T>A	ENSP00000314724:p.Leu862Gln					PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L709Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L856Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L831Q	p.L862Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			26	2868	+	Lung SC(9;0.0873)		862			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2585T>A	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728896|4.728896	0.89390|0.89390	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000539326|ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.|D;D;D;D;D	.|0.84589	.|-1.87;-1.87;-1.87;-1.87;-1.87	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	.|0.000000	.|0.28504	.|U	.|0.015103	D|D	0.93271|0.93271	0.7856|0.7856	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;0.992;1.0	D|D	0.94388|0.94388	0.7611|0.7611	5|10	.|0.72032	.|D	.|0.01	-10.122|-10.122	14.88|14.88	0.70525|0.70525	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|709;693;862;856;831	.|Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.|.;.;LIPB1_HUMAN;.;.	S|Q	93|693;709;862;831;856	.|ENSP00000444304:L693Q;ENSP00000445425:L709Q;ENSP00000314724:L862Q;ENSP00000443442:L831Q;ENSP00000228425:L856Q	.|ENSP00000228425:L856Q	C|L	+|+	1|2	0|0	PPFIBP1|PPFIBP1	27733285|27733285	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.970000|0.970000	0.65996|0.65996	7.935000|7.935000	0.87658|0.87658	1.997000|1.997000	0.58415|0.58415	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.433	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		65	96	0	0	0	1	0	65	96				
ALMS1	7840	broad.mit.edu	37	2	73678510	73678510	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr2:73678510C>T	ENST00000264448.6	+	8	4964	c.4853C>T	c.(4852-4854)gCa>gTa	p.A1618V	ALMS1_ENST00000377715.1_Missense_Mutation_p.A1618V|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1576V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1618	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTTCCAGTGCACTTGGAGAG	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(4852-4854)gCa>gTa		Alstrom syndrome 1							78.0	79.0	78.0					2																	73678510		1865	4101	5966	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678510C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4853C>T	2.37:g.73678510C>T	ENSP00000264448:p.Ala1618Val					ALMS1_ENST00000377715.1_Missense_Mutation_p.A1618V|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1576V	p.A1618V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	4964	+			1618			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4853C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090186	0.20390	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.23;3.23;2.33	3.64	3.64	0.41730	.	2.158870	0.02843	N	0.128136	T	0.12732	0.0309	N	0.22421	0.69	0.09310	N	1	P;P;P	0.47302	0.893;0.628;0.702	B;B;B	0.40066	0.318;0.16;0.175	T	0.09100	-1.0690	10	0.06891	T	0.86	.	11.112	0.48239	0.0:1.0:0.0:0.0	.	1618;1576;1618	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1576;1618;1618	ENSP00000386627:A1576V;ENSP00000264448:A1618V;ENSP00000366944:A1618V	ENSP00000264448:A1618V	A	+	2	0	ALMS1	73532018	0.000000	0.05858	0.025000	0.17156	0.266000	0.26442	0.044000	0.13992	2.316000	0.78162	0.462000	0.41574	GCA		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		14	93	0	0	0	1	0	14	93				
SYNE1	23345	broad.mit.edu	37	6	152751620	152751620	+	Silent	SNP	T	T	C			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:152751620T>C	ENST00000367255.5	-	35	5287	c.4686A>G	c.(4684-4686)agA>agG	p.R1562R	SYNE1_ENST00000341594.5_Silent_p.R1632R|SYNE1_ENST00000265368.4_Silent_p.R1562R|SYNE1_ENST00000423061.1_Silent_p.R1569R|SYNE1_ENST00000367253.4_Silent_p.R1562R|SYNE1_ENST00000448038.1_Silent_p.R1569R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1562					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTACCTTTCTAAGGTTCT	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4684-4686)agA>agG		spectrin repeat containing, nuclear envelope 1							110.0	104.0	107.0					6																	152751620		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152751620T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4686A>G	6.37:g.152751620T>C		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.R1562R|SYNE1_ENST00000448038.1_Silent_p.R1569R|SYNE1_ENST00000423061.1_Silent_p.R1569R|SYNE1_ENST00000341594.5_Silent_p.R1632R|SYNE1_ENST00000367253.4_Silent_p.R1562R	p.R1562R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	35	5287	-		Ovarian(120;0.0955)	1562					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.4686A>G	CCDS5236.2																																																																																				0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		39	52	0	0	0	1	0	39	52				
GTPBP3	84705	broad.mit.edu	37	19	17452312	17452312	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr19:17452312C>G	ENST00000324894.8	+	9	1347	c.1279C>G	c.(1279-1281)Ccg>Gcg	p.P427A	GTPBP3_ENST00000361619.5_Missense_Mutation_p.P449A|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P459A|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P406A	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	427					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CACAGATCCCCCGCTGCTGAC	0.597																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1279-1281)Ccg>Gcg		GTP binding protein 3 (mitochondrial)							42.0	47.0	45.0					19																	17452312		2202	4296	6498	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452312C>G	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1279C>G	19.37:g.17452312C>G	ENSP00000313818:p.Pro427Ala					GTPBP3_ENST00000600625.1_Missense_Mutation_p.P406A|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P449A|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P459A	p.P427A	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			9	1347	+			427					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.1279C>G	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479246	0.44044	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.28454	1.61;1.61;1.61	5.6	5.6	0.85130	.	0.049576	0.85682	D	0.000000	T	0.45438	0.1342	L	0.37800	1.135	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;0.994;1.0	D;D;P;D	0.97110	0.948;0.951;0.895;1.0	T	0.10730	-1.0617	10	0.22706	T	0.39	-30.4099	17.0849	0.86609	0.0:1.0:0.0:0.0	.	449;427;406;459	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	A	449;427;459	ENSP00000354598:P449A;ENSP00000313818:P427A;ENSP00000351644:P459A	ENSP00000313818:P427A	P	+	1	0	GTPBP3	17313312	1.000000	0.71417	0.483000	0.27378	0.013000	0.08279	6.896000	0.75665	2.633000	0.89246	0.561000	0.74099	CCG		0.597	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		23	66	0	0	0	1	0	23	66				
AHNAK2	113146	broad.mit.edu	37	14	105418145	105418145	+	Missense_Mutation	SNP	G	G	A	rs375277628	byFrequency	TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr14:105418145G>A	ENST00000333244.5	-	7	3762	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1215						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.647													.|||	6	0.00119808	0.0	0.0	5008	,	,		15037	0.0		0.001	False		,,,				2504	0.0051					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3643-3645)Ccc>Tcc		AHNAK nucleoprotein 2		G	SER/PRO	2,3852		0,2,1925	96.0	70.0	79.0		3643	1.6	0.0	14		79	3,7607		0,3,3802	no	missense	AHNAK2	NM_138420.2	74	0,5,5727	AA,AG,GG		0.0394,0.0519,0.0436	benign	1215/5796	105418145	5,11459	1927	3805	5732	SO:0001583	missense	113146					nucleus		g.chr14:105418145G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3643C>T	14.37:g.105418145G>A	ENSP00000353114:p.Pro1215Ser					AHNAK2_ENST00000557457.1_Intron	p.P1215S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1215					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3643C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.389	1.074896	0.20227	5.19E-4	3.94E-4	ENSG00000185567	ENST00000333244	T	0.00840	5.63	4.55	1.58	0.23477	.	.	.	.	.	T	0.00695	0.0023	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	9	0.08837	T	0.75	.	5.6981	0.17867	0.0766:0.3467:0.4538:0.1229	.	1215	Q8IVF2	AHNK2_HUMAN	S	1215	ENSP00000353114:P1215S	ENSP00000353114:P1215S	P	-	1	0	AHNAK2	104489190	.	.	0.009000	0.14445	0.004000	0.04260	.	.	0.383000	0.24910	-1.447000	0.01057	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	1	0	0	0	1	0	3	1				
ADAMTS5	11096	broad.mit.edu	37	21	28306854	28306854	+	Silent	SNP	C	C	T	rs199797191		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr21:28306854C>T	ENST00000284987.5	-	4	1741	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTCCACAAGGCGTCCCTTCCA	0.522																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1618-1620)acG>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 5		C		0,4406		0,0,2203	94.0	86.0	89.0		1620	-11.4	0.0	21		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		540/931	28306854	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306854C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1620G>A	21.37:g.28306854C>T						AP001601.2_ENST00000426771.1_RNA	p.T540T	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			4	1741	-			540			Disintegrin.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1620G>A	CCDS13579.1																																																																																				0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			17	59	0	0	0	1	0	17	59				
TAAR6	319100	broad.mit.edu	37	6	132891554	132891554	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:132891554C>T	ENST00000275198.1	+	1	94	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	32					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCCGGGATCCCGGGTGATTCT	0.532																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(94-96)Cgg>Tgg		trace amine associated receptor 6							160.0	148.0	152.0					6																	132891554		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891554C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.94C>T	6.37:g.132891554C>T	ENSP00000275198:p.Arg32Trp						p.R32W	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	94	+	Breast(56;0.112)		32					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.94C>T	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943148	0.34283	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.39229	1.09	4.99	-0.182	0.13287	.	0.420434	0.17738	N	0.163641	T	0.19046	0.0457	M	0.69823	2.125	0.09310	N	1	B	0.20164	0.042	B	0.21151	0.033	T	0.30504	-0.9976	10	0.59425	D	0.04	-9.4161	6.3705	0.21479	0.3674:0.4987:0.0:0.1339	.	32	Q96RI8	TAAR6_HUMAN	W	32;15	ENSP00000275198:R32W	ENSP00000275198:R32W	R	+	1	2	TAAR6	132933247	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.383000	0.20651	-0.254000	0.09500	0.563000	0.77884	CGG		0.532	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		22	105	0	0	0	1	0	22	105				
LARP1	23367	broad.mit.edu	37	5	154173201	154173201	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr5:154173201A>C	ENST00000336314.4	+	5	579	c.555A>C	c.(553-555)gaA>gaC	p.E185D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	262					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAGCCTGAAGTGCCCAGAG	0.527																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(553-555)gaA>gaC		La ribonucleoprotein domain family, member 1							138.0	151.0	147.0					5																	154173201		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154173201A>C	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.555A>C	5.37:g.154173201A>C	ENSP00000336721:p.Glu185Asp						p.E185D	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	579	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	262					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.555A>C	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.79|12.79	2.042907|2.042907	0.36085|0.36085	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163|ENST00000517616;ENST00000518194	T;T;T;T|.	0.48201|.	1.88;1.45;1.46;0.82|.	6.17|6.17	-1.25|-1.25	0.09405|0.09405	.|.	0.100297|.	0.64402|.	D|.	0.000003|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.14661|0.14661	0.345|0.345	0.44492|0.44492	D|D	0.997438|0.997438	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.11329|.	0.004;0.006|.	T|T	0.09952|0.09952	-1.0651|-1.0651	10|5	0.20046|.	T|.	0.44|.	-11.5255|-11.5255	1.7779|1.7779	0.03025|0.03025	0.45:0.0958:0.2738:0.1804|0.45:0.0958:0.2738:0.1804	.|.	262;185|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	D|R	185;262;57;57;37|165;24	ENSP00000336721:E185D;ENSP00000428589:E262D;ENSP00000429904:E57D;ENSP00000430438:E37D|.	ENSP00000336721:E185D|.	E|S	+|+	3|1	2|0	LARP1|LARP1	154153394|154153394	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.970000|0.970000	0.65996|0.65996	0.908000|0.908000	0.28545|0.28545	-0.023000|-0.023000	0.13963|0.13963	0.533000|0.533000	0.62120|0.62120	GAA|AGT		0.527	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		65	94	0	0	0	1	0	65	94				
FLT4	2324	broad.mit.edu	37	5	180030327	180030327	+	Silent	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr5:180030327C>T	ENST00000261937.6	-	30	4035	c.3957G>A	c.(3955-3957)cgG>cgA	p.R1319R		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1319					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCCGCCGCCGCCTCCCTT	0.627																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3955-3957)cgG>cgA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						22.0	23.0	23.0					5																	180030327		2202	4300	6502	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180030327C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3957G>A	5.37:g.180030327C>T							p.R1319R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	30	4035	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	0					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3957G>A	CCDS4457.1																																																																																				0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			10	7	0	0	0	1	0	10	7				
ABCB9	23457	broad.mit.edu	37	12	123419855	123419855	+	Missense_Mutation	SNP	C	C	T	rs147328787		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:123419855C>T	ENST00000542678.1	-	10	4705	c.1867G>A	c.(1867-1869)Ggc>Agc	p.G623S	ABCB9_ENST00000540285.1_Missense_Mutation_p.G560S|ABCB9_ENST00000392439.3_Missense_Mutation_p.G623S|ABCB9_ENST00000346530.5_Missense_Mutation_p.G580S|ABCB9_ENST00000442833.2_Missense_Mutation_p.G623S|ABCB9_ENST00000344275.7_Missense_Mutation_p.G623S|ABCB9_ENST00000442028.2_Missense_Mutation_p.G623S|ABCB9_ENST00000280560.8_Missense_Mutation_p.G623S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	623	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ATGATGAAGCCGTGGGCATTG	0.627																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1867-1869)Ggc>Agc		ATP-binding cassette, sub-family B (MDR/TAP), member 9		C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	73.0	52.0	59.0		1738,1867,1867	3.3	0.6	12	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABCB9	NM_019624.3,NM_019625.3,NM_203444.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	580/724,623/767,623/767	123419855	1,13005	2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123419855C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1867G>A	12.37:g.123419855C>T	ENSP00000440288:p.Gly623Ser					ABCB9_ENST00000344275.7_Missense_Mutation_p.G623S|ABCB9_ENST00000392439.3_Missense_Mutation_p.G623S|ABCB9_ENST00000280560.8_Missense_Mutation_p.G623S|ABCB9_ENST00000346530.5_Missense_Mutation_p.G580S|ABCB9_ENST00000442028.2_Missense_Mutation_p.G623S|ABCB9_ENST00000442833.2_Missense_Mutation_p.G623S|ABCB9_ENST00000540285.1_Missense_Mutation_p.G560S	p.G623S			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	10	4705	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		623			ABC transporter.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1867G>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	2.678	-0.276030	0.05679	0.0	1.16E-4	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448	D;D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.14	3.31	0.37934	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.460627	0.23937	N	0.043092	T	0.68760	0.3036	N	0.00960	-1.095	0.09310	N	1	B;B;B;B;B	0.28291	0.206;0.015;0.046;0.038;0.006	B;B;B;B;B	0.23150	0.041;0.021;0.044;0.009;0.017	T	0.61720	-0.7005	10	0.27785	T	0.31	-21.4494	5.0712	0.14608	0.1394:0.5732:0.0:0.2874	.	560;230;342;580;623	B4E2J0;B4DFR8;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	S	623;560;580;623;623;623;167;249	ENSP00000280560:G623S;ENSP00000441734:G560S;ENSP00000280559:G580S;ENSP00000376234:G623S;ENSP00000440288:G623S;ENSP00000394898:G623S;ENSP00000442281:G167S;ENSP00000440244:G249S	ENSP00000280560:G623S	G	-	1	0	ABCB9	121985808	0.000000	0.05858	0.574000	0.28523	0.643000	0.38383	0.286000	0.18902	0.549000	0.28973	0.563000	0.77884	GGC		0.627	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		14	22	0	0	0	1	0	14	22				
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T	rs374381483		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q			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_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR	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		5	110	0	0	0	1	0	5	110				
HIST1H2BL	8340	broad.mit.edu	37	6	27775389	27775389	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:27775389A>T	ENST00000377401.2	-	1	320	c.296T>A	c.(295-297)gTg>gAg	p.V99E	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	99					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAGCAGGCGCACGGCGGTCTG	0.617																																						ENST00000377401.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(295-297)gTg>gAg		histone cluster 1, H2bl							81.0	85.0	84.0					6																	27775389		2203	4300	6503	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775389A>T	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.296T>A	6.37:g.27775389A>T	ENSP00000366618:p.Val99Glu						p.V99E	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN			1	320	-			99					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.296T>A	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	16.93	3.257496	0.59321	.	.	ENSG00000185130	ENST00000377401	T	0.44881	0.91	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	0.458656	0.13093	U	0.414419	T	0.51278	0.1665	H	0.98199	4.17	0.43230	D	0.995122	B	0.06786	0.001	B	0.21360	0.034	T	0.65471	-0.6160	10	0.72032	D	0.01	.	13.4391	0.61101	1.0:0.0:0.0:0.0	.	99	Q99880	H2B1L_HUMAN	E	99	ENSP00000366618:V99E	ENSP00000366618:V99E	V	-	2	0	HIST1H2BL	27883368	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.745000	0.91600	1.894000	0.54839	0.533000	0.62120	GTG		0.617	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		41	74	0	0	0	1	0	41	74				
ATP2A1	487	broad.mit.edu	37	16	28898525	28898525	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr16:28898525T>C	ENST00000357084.3	+	7	827	c.560T>C	c.(559-561)gTc>gCc	p.V187A	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V62A|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V187A	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	187					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTGTATCTGTCATCAAACAC	0.562																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(559-561)gTc>gCc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							101.0	99.0	99.0					16																	28898525		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28898525T>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.560T>C	16.37:g.28898525T>C	ENSP00000349595:p.Val187Ala					ATP2A1_ENST00000536376.1_Missense_Mutation_p.V62A|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V187A	p.V187A	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			7	744	+			187					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.560T>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053771	0.75960	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.93488	-3.23;-3.23;-3.23	5.34	4.23	0.50019	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95701	0.8602	M	0.74389	2.26	0.54753	D	0.999984	D;P;B	0.58268	0.982;0.703;0.449	D;P;B	0.68192	0.956;0.646;0.395	D	0.95043	0.8180	10	0.66056	D	0.02	.	10.782	0.46384	0.1423:0.0:0.0:0.8577	.	62;187;187	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	A	187;187;224;62	ENSP00000349595:V187A;ENSP00000378879:V187A;ENSP00000443101:V62A	ENSP00000349595:V187A	V	+	2	0	ATP2A1	28806026	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.988000	0.88194	0.833000	0.34828	0.460000	0.39030	GTC		0.562	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		10	76	0	0	0	1	0	10	76				
COL7A1	1294	broad.mit.edu	37	3	48611982	48611982	+	Splice_Site	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:48611982C>T	ENST00000328333.8	-	78	6502	c.6395G>A	c.(6394-6396)gGt>gAt	p.G2132D	COL7A1_ENST00000454817.1_Splice_Site_p.G2100D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2132	Triple-helical region.		G -> D (in RDEB).		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)		GCCTGGCACACCCTGAAGGCA	0.627																																						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	GRCh37	CM992850	COL7A1	M		c.e78-1		collagen, type VII, alpha 1							59.0	53.0	55.0					3																	48611982		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611982C>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.6394-1G>A	3.37:g.48611982C>T						COL7A1_ENST00000454817.1_Splice_Site_p.G2100_splice	p.G2132_splice	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)	78	6502	-			2132		G -> D (in RDEB).	Triple-helical region.		Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.6393_splice	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033565	0.35893	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99619	-6.28;-6.28	4.71	3.83	0.44106	.	0.000000	0.40908	D	0.000984	D	0.99591	0.9852	H	0.98936	4.375	0.47123	D	0.999329	P	0.47604	0.898	P	0.48114	0.567	D	0.98032	1.0377	10	0.72032	D	0.01	.	11.9887	0.53163	0.0:0.9148:0.0:0.0852	.	2132	Q02388	CO7A1_HUMAN	D	2132;2100	ENSP00000332371:G2132D;ENSP00000412569:G2100D	ENSP00000332371:G2132D	G	-	2	0	COL7A1	48586986	1.000000	0.71417	0.867000	0.34043	0.067000	0.16453	6.199000	0.72112	1.342000	0.45619	-0.251000	0.11542	GGT		0.627	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	9	27	0	0	0	1	0	9	27				
SDK1	221935	broad.mit.edu	37	7	4007037	4007037	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr7:4007037C>T	ENST00000404826.2	+	10	1656	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	SDK1_ENST00000389531.3_Missense_Mutation_p.A506V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	506	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGTCCGGGGCTCCCAAACCC	0.562																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1516-1518)gCt>gTt		sidekick cell adhesion molecule 1							78.0	77.0	77.0					7																	4007037		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4007037C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1517C>T	7.37:g.4007037C>T	ENSP00000385899:p.Ala506Val					SDK1_ENST00000389531.3_Missense_Mutation_p.A506V	p.A506V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1656	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	506			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1517C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422188	0.96111	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.62588	0.2440	N	0.02111	-0.68	0.58432	D	0.999998	D	0.76494	0.999	D	0.68621	0.959	T	0.74811	-0.3538	10	0.46703	T	0.11	.	19.7244	0.96157	0.0:1.0:0.0:0.0	.	506	Q7Z5N4	SDK1_HUMAN	V	506	ENSP00000385899:A506V;ENSP00000374182:A506V	ENSP00000374182:A506V	A	+	2	0	SDK1	3973563	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	7.452000	0.80683	2.659000	0.90383	0.655000	0.94253	GCT		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	58	0	0	0	1	0	10	58				
HUNK	30811	broad.mit.edu	37	21	33318387	33318387	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr21:33318387C>T	ENST00000270112.2	+	4	1010	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGGGTTACTCGGATCCGTTC	0.522																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(649-651)tCg>tTg		hormonally up-regulated Neu-associated kinase							134.0	122.0	126.0					21																	33318387		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33318387C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.650C>T	21.37:g.33318387C>T	ENSP00000270112:p.Ser217Leu						p.S217L	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			4	1010	+			217			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.650C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396044	0.83011	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.66815	-0.23;-0.23	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.212023	0.41823	D	0.000813	T	0.69842	0.3156	L	0.49256	1.55	0.58432	D	0.999997	D	0.61697	0.99	P	0.48840	0.592	T	0.74203	-0.3741	10	0.72032	D	0.01	-13.1947	18.7329	0.91742	0.0:1.0:0.0:0.0	.	217	P57058	HUNK_HUMAN	L	217;102	ENSP00000270112:S217L;ENSP00000411860:S102L	ENSP00000270112:S217L	S	+	2	0	HUNK	32240258	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	7.235000	0.78143	2.655000	0.90218	0.655000	0.94253	TCG		0.522	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		53	99	0	0	0	1	0	53	99				
ZNF445	353274	broad.mit.edu	37	3	44488987	44488987	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:44488987C>A	ENST00000396077.2	-	8	2523	c.2176G>T	c.(2176-2178)Gtt>Ttt	p.V726F	ZNF445_ENST00000425708.2_Missense_Mutation_p.V726F	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	726					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCTTATGAACAATAAAGGCT	0.458																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2176-2178)Gtt>Ttt		zinc finger protein 445							111.0	110.0	110.0					3																	44488987		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488987C>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2176G>T	3.37:g.44488987C>A	ENSP00000379387:p.Val726Phe					ZNF445_ENST00000396077.2_Missense_Mutation_p.V726F	p.V726F			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2517	-			726					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2176G>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	c	13.54	2.267694	0.40095	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.61158	0.13;0.13	3.57	0.31	0.15825	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.505944	0.16628	N	0.206171	T	0.28134	0.0694	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.003;0.003	T	0.12451	-1.0547	10	0.52906	T	0.07	.	0.5583	0.00674	0.3776:0.2631:0.1462:0.2132	.	714;726	B7ZKX2;P59923	.;ZN445_HUMAN	F	726	ENSP00000413073:V726F;ENSP00000379387:V726F	ENSP00000379387:V726F	V	-	1	0	ZNF445	44463991	0.000000	0.05858	0.070000	0.20053	0.953000	0.61014	-0.649000	0.05384	0.033000	0.15463	0.306000	0.20318	GTT		0.458	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		52	117	1	0	9.45407e-15	1	9.45407e-15	52	117				
SLC12A2	6558	broad.mit.edu	37	5	127516605	127516605	+	Missense_Mutation	SNP	C	C	T	rs375675214		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr5:127516605C>T	ENST00000262461.2	+	23	3320	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M	SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1028M|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1044					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TACCTTCTGACGACCAAGAAA	0.318																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3130-3132)aCg>aTg		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	MET/THR	0,4406		0,0,2203	136.0	147.0	143.0		3131	5.1	1.0	5		143	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC12A2	NM_001046.2	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1044/1213	127516605	1,13003	2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127516605C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3131C>T	5.37:g.127516605C>T	ENSP00000262461:p.Thr1044Met					SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1028M	p.T1044M	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	23	3320	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1044					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3131C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720147	0.89205	0.0	1.16E-4	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.82344	-1.6;-1.6	5.1	5.1	0.69264	.	0.053130	0.85682	D	0.000000	D	0.93220	0.7840	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.939	D	0.94362	0.7588	10	0.87932	D	0	.	19.0711	0.93136	0.0:1.0:0.0:0.0	.	1028;1044	P55011-3;P55011	.;S12A2_HUMAN	M	1044;1028	ENSP00000262461:T1044M;ENSP00000340878:T1028M	ENSP00000262461:T1044M	T	+	2	0	SLC12A2	127544504	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.551000	0.82182	2.814000	0.96858	0.563000	0.77884	ACG		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		39	72	0	0	0	1	0	39	72				
SERPINF2	5345	broad.mit.edu	37	17	1649162	1649162	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr17:1649162C>T	ENST00000324015.3	+	5	403	c.326C>T	c.(325-327)tCa>tTa	p.S109L	SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.S109L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	109					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CTCATCCTGTCACCCCTGAGT	0.627																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(325-327)tCa>tTa		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						133.0	135.0	134.0					17																	1649162		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1649162C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.326C>T	17.37:g.1649162C>T	ENSP00000321853:p.Ser109Leu					SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.S109L	p.S109L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	5	403	+			109					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.326C>T	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164865	0.78339	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000453723;ENST00000382061	D;D;T;D	0.95588	-3.75;-3.75;-0.32;-3.75	5.39	5.39	0.77823	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99628	1.0985	10	0.87932	D	0	.	19.1422	0.93450	0.0:1.0:0.0:0.0	.	109	P08697	A2AP_HUMAN	L	109	ENSP00000402286:S109L;ENSP00000321853:S109L;ENSP00000402056:S109L;ENSP00000371493:S109L	ENSP00000321853:S109L	S	+	2	0	SERPINF2	1595912	1.000000	0.71417	0.980000	0.43619	0.952000	0.60782	6.168000	0.71908	2.530000	0.85305	0.561000	0.74099	TCA		0.627	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		40	80	0	0	0	1	0	40	80				
FCRL3	115352	broad.mit.edu	37	1	157668405	157668405	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr1:157668405C>G	ENST00000368184.3	-	4	358	c.67G>C	c.(67-69)Gct>Cct	p.A23P	FCRL3_ENST00000473231.1_5'Flank|FCRL3_ENST00000368186.5_Missense_Mutation_p.A23P|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	23	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGAAGTACAGCTTTTGGGGCC	0.527																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(67-69)Gct>Cct		Fc receptor-like 3							85.0	81.0	82.0					1																	157668405		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157668405C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.67G>C	1.37:g.157668405C>G	ENSP00000357167:p.Ala23Pro					FCRL3_ENST00000368186.5_Missense_Mutation_p.A23P	p.A23P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			4	358	-	all_hematologic(112;0.0378)		23			Ig-like C2-type 1.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.67G>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399583	0.25291	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02050	4.48;4.48	5.46	3.53	0.40419	Immunoglobulin-like (1);	1.851380	0.03299	N	0.188751	T	0.00815	0.0027	L	0.40543	1.245	0.22701	N	0.998831	B;B	0.16166	0.016;0.007	B;B	0.22880	0.042;0.038	T	0.50734	-0.8793	10	0.09084	T	0.74	.	8.1319	0.31033	0.0:0.6298:0.2863:0.0838	.	23;23	Q96P31;Q96P31-6	FCRL3_HUMAN;.	P	23	ENSP00000357169:A23P;ENSP00000357167:A23P	ENSP00000292392:A23P	A	-	1	0	FCRL3	155935029	0.979000	0.34478	0.891000	0.34965	0.019000	0.09904	1.434000	0.34958	1.303000	0.44873	-0.218000	0.12543	GCT		0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		11	53	0	0	0	1	0	11	53				
TTN	7273	broad.mit.edu	37	2	179592369	179592369	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr2:179592369A>G	ENST00000591111.1	-	66	19209	c.18985T>C	c.(18985-18987)Tgc>Cgc	p.C6329R	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C6646R|TTN_ENST00000342992.6_Missense_Mutation_p.C5402R			Q8WZ42	TITIN_HUMAN	titin	13105	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACATGGCAAGTATACTGT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19936-19938)Tgc>Cgc		titin							199.0	203.0	202.0					2																	179592369		2062	4214	6276	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592369A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18985T>C	2.37:g.179592369A>G	ENSP00000465570:p.Cys6329Arg					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C5402R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.C6329R	p.C6646R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20160	-			6329			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19936T>C		.	.	.	.	.	.	.	.	.	.	A	12.07	1.826714	0.32329	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88058	0.6335	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92817	0.6269	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6329	Q8WZ42	TITIN_HUMAN	R	5402	ENSP00000343764:C5402R	ENSP00000343764:C5402R	C	-	1	0	TTN	179300614	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		70	136	0	0	0	1	0	70	136				
METTL13	51603	broad.mit.edu	37	1	171756946	171756946	+	Silent	SNP	C	C	T	rs369151040		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr1:171756946C>T	ENST00000361735.3	+	4	1451	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	METTL13_ENST00000362019.3_Silent_p.S309S|METTL13_ENST00000367737.5_Silent_p.S239S|METTL13_ENST00000458517.1_Silent_p.S394S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	395							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCCCCTTGAGCGGTGACTATG	0.547																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1183-1185)agC>agT		methyltransferase like 13		C	,,	0,4406		0,0,2203	104.0	85.0	91.0		717,927,1185	-3.0	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	METTL13	NM_001007239.1,NM_014955.2,NM_015935.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	239/544,309/614,395/700	171756946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171756946C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1185C>T	1.37:g.171756946C>T						METTL13_ENST00000362019.3_Silent_p.S309S|METTL13_ENST00000458517.1_Silent_p.S394S|METTL13_ENST00000367737.5_Silent_p.S239S	p.S395S	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			4	1451	+			395					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1185C>T	CCDS1299.1																																																																																				0.547	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		13	15	0	0	0	1	0	13	15				
ZNF835	90485	broad.mit.edu	37	19	57175802	57175802	+	Silent	SNP	G	G	A			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr19:57175802G>A	ENST00000537055.2	-	2	996	c.765C>T	c.(763-765)tgC>tgT	p.C255C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGGCGCACGCGGAGC	0.682																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(763-765)tgC>tgT		zinc finger protein 835							41.0	40.0	41.0					19																	57175802		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57175802G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.765C>T	19.37:g.57175802G>A							p.C255C	NM_001005850.2	NP_001005850.2					2	996	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.765C>T	CCDS56105.1																																																																																				0.682	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		22	20	0	0	0	1	0	22	20				
OR8D4	338662	broad.mit.edu	37	11	123777934	123777934	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr11:123777934A>T	ENST00000321355.2	+	1	826	c.796A>T	c.(796-798)Agt>Tgt	p.S266C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTTCTAGCAGTTCACTCAC	0.428																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(796-798)Agt>Tgt		olfactory receptor, family 8, subfamily D, member 4							105.0	106.0	106.0					11																	123777934		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777934A>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.796A>T	11.37:g.123777934A>T	ENSP00000325381:p.Ser266Cys						p.S266C	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	826	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	266					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.796A>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368642	0.24771	.	.	ENSG00000181518	ENST00000321355	T	0.00249	8.44	5.29	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.610713	0.15188	N	0.275735	T	0.00608	0.0020	M	0.93328	3.405	0.09310	N	1	D	0.59767	0.986	D	0.64687	0.928	T	0.35624	-0.9781	10	0.48119	T	0.1	.	8.1926	0.31376	0.7552:0.0:0.2448:0.0	.	266	Q8NGM9	OR8D4_HUMAN	C	266	ENSP00000325381:S266C	ENSP00000325381:S266C	S	+	1	0	OR8D4	123283144	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.053000	0.11846	0.132000	0.18615	0.533000	0.62120	AGT		0.428	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		13	95	0	0	0	1	0	13	95				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	29	0	0	0	1	0	3	29				
SEMA7A	8482	broad.mit.edu	37	15	74703250	74703250	+	Silent	SNP	G	G	A	rs199507109		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr15:74703250G>A	ENST00000261918.4	-	14	2264	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	SEMA7A_ENST00000543145.2_Silent_p.H558H|SEMA7A_ENST00000542748.1_Silent_p.H407H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	572	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGTAGGTGGCGTGGCGGGATT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19090	0.0		0.0	False		,,,				2504	0.0					ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1714-1716)caC>caT		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)		G	,,	1,4393	2.1+/-5.4	0,1,2196	102.0	103.0	103.0		1674,1221,1716	-3.7	1.0	15		103	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	,,	558/653,407/502,572/667	74703250	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703250G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1716C>T	15.37:g.74703250G>A						SEMA7A_ENST00000542748.1_Silent_p.H407H|SEMA7A_ENST00000543145.2_Silent_p.H558H	p.H572H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2264	-			572			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1716C>T	CCDS10262.1																																																																																				0.622	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		41	70	0	0	0	1	0	41	70				
TMEM257	9142	broad.mit.edu	37	X	144909435	144909435	+	Silent	SNP	G	G	A			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chrX:144909435G>A	ENST00000408967.2	+	1	508	c.240G>A	c.(238-240)acG>acA	p.T80T		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	80						integral component of membrane (GO:0016021)		p.T80T(1)									GCTTTAAGACGTATGAGCATC	0.398																																						ENST00000408967.2																			1	Substitution - coding silent(1)	p.T80T(1)	kidney(1)								c.(238-240)acG>acA		transmembrane protein 257							78.0	71.0	73.0					X																	144909435		2203	4300	6503	SO:0001819	synonymous_variant	9142							g.chrX:144909435G>A	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"""chromosome X open reading frame 1"""	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.240G>A	X.37:g.144909435G>A							p.T80T	NM_004709.2	NP_004700.1					1	508	+								Q14CW0	Silent	SNP	ENST00000408967.2	37	c.240G>A	CCDS14681.1																																																																																				0.398	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		3	32	0	0	0	1	0	3	32				
AASDH	132949	broad.mit.edu	37	4	57216169	57216171	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr4:57216169_57216171delAAG	ENST00000205214.6	-	11	1926_1928	c.1746_1748delCTT	c.(1744-1749)ttctta>tta	p.F582del	AASDH_ENST00000602986.1_In_Frame_Del_p.F429del|AASDH_ENST00000513376.1_In_Frame_Del_p.F482del|AASDH_ENST00000451613.1_In_Frame_Del_p.F582del|AASDH_ENST00000502617.1_In_Frame_Del_p.F582del|AASDH_ENST00000434343.2_In_Frame_Del_p.F97del	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	582	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACCACTATTTAAGAAGAGTGACT	0.414																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1744-1749)tta>tt		aminoadipate-semialdehyde dehydrogenase																																				SO:0001651	inframe_deletion	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57216169_57216171delAAG	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1746_1748delCTT	4.37:g.57216172_57216174delAAG	ENSP00000205214:p.Phe582del					AASDH_ENST00000434343.2_In_Frame_Del_p.FL97del|AASDH_ENST00000451613.1_In_Frame_Del_p.FL582del|AASDH_ENST00000502617.1_In_Frame_Del_p.FL582del|AASDH_ENST00000513376.1_In_Frame_Del_p.FL482del|AASDH_ENST00000602986.1_In_Frame_Del_p.FL429del	p.FL582del	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	1926_1928	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	582			Acyl carrier.		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	In_Frame_Del	DEL	ENST00000205214.6	37	c.1746_1748delCTT	CCDS3504.1																																																																																				0.414	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		14	26						14	26	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43910307	43910307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr15:43910307delG	ENST00000450892.2	-	2	389	c.312delC	c.(310-312)cccfs	p.P104fs	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	104					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)		GCTCCCAGTCGGGGCTACCTC	0.622																																						ENST00000450892.2																			0				skin(4)	4						c.(310-312)ccfs		stereocilin							2.0	3.0	3.0					15																	43910307		1464	3392	4856	SO:0001589	frameshift_variant	161497				sensory perception of sound	cell surface		g.chr15:43910307delG	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.312delC	15.37:g.43910307delG	ENSP00000401513:p.Pro104fs					STRC_ENST00000541030.1_5'UTR	p.P104fs	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	389	-		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)	104						Frame_Shift_Del	DEL	ENST00000450892.2	37	c.312delC	CCDS10098.1																																																																																				0.622	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		2	4						2	4	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19365430	19365430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr22:19365430delG	ENST00000263208.5	-	14	1831	c.1575delC	c.(1573-1575)gccfs	p.A525fs	HIRA_ENST00000541063.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000340170.4_Frame_Shift_Del_p.A525fs	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	525	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTCTGGCACTGGCAGCCACCA	0.547																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1573-1575)gcfs		histone cell cycle regulator							84.0	93.0	90.0					22																	19365430		2203	4300	6503	SO:0001589	frameshift_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365430delG	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1575delC	22.37:g.19365430delG	ENSP00000263208:p.Ala525fs					HIRA_ENST00000340170.4_Frame_Shift_Del_p.A525fs|HIRA_ENST00000541063.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.A481fs	p.A525fs	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			14	1831	-	Colorectal(54;0.0993)		525			Interaction with CCNA1.		Q05BU9|Q8IXN2	Frame_Shift_Del	DEL	ENST00000263208.5	37	c.1575delC	CCDS13759.1																																																																																				0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		53	97						53	97	---	---	---	---
