#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
PCNT	5116	broad.mit.edu	37	21	47783836	47783836	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr21:47783836C>T	ENST00000359568.5	+	14	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	866					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCTGATGCTGGCCCGGAG	0.677																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2596-2598)Ctg>Ttg		pericentrin							38.0	44.0	42.0					21																	47783836		2180	4265	6445	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783836C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2596C>T	21.37:g.47783836C>T						PCNT_ENST00000480896.1_3'UTR	p.L866L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			14	2703	+	Breast(49;0.112)		866					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2596C>T	CCDS33592.1																																																																																				0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	91	0	0	0	1	0	3	91				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	211	0	0	0	1	0	4	211				
MYH1	4619	broad.mit.edu	37	17	10402290	10402290	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr17:10402290C>A	ENST00000226207.5	-	29	4079		c.e29+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGAGCTTACCTTTATCTCC	0.398																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e29+1		myosin, heavy chain 1, skeletal muscle, adult							185.0	162.0	170.0					17																	10402290		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402290C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3984+1G>T	17.37:g.10402290C>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA		NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			29	4079	-								Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37		CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948968	0.73787	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10343015	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	7.750000	0.85110	2.690000	0.91761	0.655000	0.94253	.		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	5	56	1	0	5.9392e-07	1	7.34585e-07	5	56				
ATP6V0C	527	broad.mit.edu	37	16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr16:2569368G>T	ENST00000330398.4	+	2	463	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R372L|AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	77					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGTCCTCATCGCCAACTCCCT	0.612																																						ENST00000564543.1																			0											c.(1114-1116)cGc>cTc									91.0	69.0	76.0					16																	2569368		2198	4300	6498	SO:0001583	missense	0							g.chr16:2569368G>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.229G>T	16.37:g.2569368G>T	ENSP00000329757:p.Ala77Ser					ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A77S|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S	p.R372L							2	1232	+								Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1115G>T	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262072	0.39995	.	.	ENSG00000185883	ENST00000330398	T	0.40225	1.04	4.85	3.9	0.45041	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	N	0.12611	0.24	0.58432	D	0.999998	B	0.15719	0.014	B	0.22386	0.039	T	0.04522	-1.0945	10	0.13108	T	0.6	-3.3277	11.9352	0.52870	0.0854:0.0:0.9146:0.0	.	77	P27449	VATL_HUMAN	S	77	ENSP00000329757:A77S	ENSP00000329757:A77S	A	+	1	0	ATP6V0C	2509369	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.895000	0.87343	1.055000	0.40461	-0.265000	0.10407	GCC		0.612	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		3	64	1	0	1	1	1	3	64				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	72	0	0	0	1	0	3	72				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	57	0	0	0	1	0	3	57				
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr9:8499764G>A	ENST00000381196.4	-	22	2748	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - coding silent(1)	p.P735P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2203-2205)ccC>ccT		protein tyrosine phosphatase, receptor type, D							172.0	150.0	157.0					9																	8499764		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499764G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>T	9.37:g.8499764G>A		TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000397617.3_Intron	p.P735P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2748	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	735			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>T	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	89	0	0	0	1	0	3	89				
IDE	3416	broad.mit.edu	37	10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr10:94214212C>T	ENST00000265986.6	-	25	3105	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A462T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1017					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAGAGTTTTGCAGCCATGAAG	0.433																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3049-3051)Gca>Aca		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	151.0	151.0					10																	94214212		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214212C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3049G>A	10.37:g.94214212C>T	ENSP00000265986:p.Ala1017Thr					IDE_ENST00000371581.5_Missense_Mutation_p.A462T|IDE_ENST00000496903.1_5'UTR	p.A1017T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			25	3105	-			1017					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.3049G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955730	0.73902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34859	1.34;1.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.58432	D	0.999999	B;D	0.54207	0.292;0.965	B;P	0.46299	0.038;0.511	T	0.04495	-1.0947	10	0.24483	T	0.36	-13.0314	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1017;462	P14735;B3KSB8	IDE_HUMAN;.	T	1017;462	ENSP00000265986:A1017T;ENSP00000360637:A462T	ENSP00000265986:A1017T	A	-	1	0	IDE	94204192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.475000	0.66787	2.788000	0.95919	0.650000	0.86243	GCA		0.433	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		4	129	0	0	0	1	0	4	129				
SLC43A3	29015	broad.mit.edu	37	11	57175307	57175307	+	Silent	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr11:57175307C>A	ENST00000395123.2	-	14	1738	c.1434G>T	c.(1432-1434)cgG>cgT	p.R478R	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000395124.1_Silent_p.R478R|SLC43A3_ENST00000529554.1_Silent_p.R478R|SLC43A3_ENST00000352187.1_Silent_p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TACGGCATTCCCGATATACCA	0.468																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1432-1434)cgG>cgT		solute carrier family 43, member 3							123.0	103.0	110.0					11																	57175307		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57175307C>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1434G>T	11.37:g.57175307C>A						SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000352187.1_Silent_p.R478R|SLC43A3_ENST00000529554.1_Silent_p.R478R|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000395124.1_Silent_p.R478R	p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			14	1738	-			478					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1434G>T	CCDS7956.1																																																																																				0.468	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		3	53	1	0	1	1	1	3	53				
UBR5	51366	broad.mit.edu	37	8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr8:103297922G>A	ENST00000520539.1	-	39	5909	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTTCCAAAGCAGCTGCTGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)gCt>gTt		ubiquitin protein ligase E3 component n-recognin 5							72.0	68.0	70.0					8																	103297922		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297922G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5303C>T	8.37:g.103297922G>A	ENSP00000429084:p.Ala1768Val					UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	p.A1768V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	5909	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5303C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174184	0.78452	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.52726	-0.8537	10	0.33940	T	0.23	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	V	1768;1768;1762	ENSP00000429084:A1768V;ENSP00000220959:A1768V;ENSP00000427819:A1762V	ENSP00000220959:A1768V	A	-	2	0	UBR5	103367098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	49	0	0	0	1	0	10	49				
ARVCF	421	broad.mit.edu	37	22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:19960732A>G	ENST00000263207.3	-	14	2639	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T|ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2347-2349)aTc>aCc		armadillo repeat gene deleted in velocardiofacial syndrome							33.0	27.0	29.0					22																	19960732		2198	4294	6492	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960732A>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2348T>C	22.37:g.19960732A>G	ENSP00000263207:p.Ile783Thr					ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T	p.I783T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			14	2639	-	Colorectal(54;0.0993)		783					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2348T>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890383	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	B;P	0.37914	0.145;0.611	B;B	0.41332	0.112;0.354	T	0.60682	-0.7215	9	.	.	.	-13.0459	12.9426	0.58354	1.0:0.0:0.0:0.0	.	783;299	O00192;E7EV58	ARVC_HUMAN;.	T	783;720;720;714;777	ENSP00000263207:I783T;ENSP00000342042:I720T;ENSP00000384341:I720T;ENSP00000384732:I714T;ENSP00000385444:I777T	.	I	-	2	0	ARVCF	18340732	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.582000	0.74049	1.956000	0.56807	0.459000	0.35465	ATC		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		6	11	0	0	0	1	0	6	11				
WDR45	11152	broad.mit.edu	37	X	48933589	48933589	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chrX:48933589C>A	ENST00000376372.3	-	7	633	c.452G>T	c.(451-453)tGc>tTc	p.C151F	WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|AF196779.12_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000356463.3_Missense_Mutation_p.C152F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|PRAF2_ENST00000376390.4_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	151					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(454-456)tGc>tTc		WD repeat domain 45							56.0	44.0	48.0					X																	48933589		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933589C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.452G>T	X.37:g.48933589C>A	ENSP00000365551:p.Cys151Phe					WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|WDR45_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000376372.3_Missense_Mutation_p.C151F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F	p.C152F	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			8	893	-			151					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.455G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993589	0.54041	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.92	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.83118	2.625	0.80722	D	1	D;B;B;B;B;P	0.56287	0.975;0.003;0.005;0.007;0.001;0.939	B;B;B;B;B;P	0.50192	0.356;0.003;0.011;0.011;0.011;0.634	D	0.87352	0.2338	10	0.87932	D	0	-14.9901	14.6881	0.69065	0.0:1.0:0.0:0.0	.	49;151;162;116;152;151	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	49;151;162;152;116;151;152;151;84;117;176;169;127;49	ENSP00000451962:C49F;ENSP00000365551:C151F;ENSP00000365543:C162F;ENSP00000348848:C152F;ENSP00000419897:C116F;ENSP00000417211:C151F;ENSP00000365546:C152F;ENSP00000379913:C151F;ENSP00000418466:C84F;ENSP00000418919:C117F;ENSP00000420728:C176F;ENSP00000393640:C169F;ENSP00000419324:C127F;ENSP00000365536:C49F	ENSP00000365536:C49F	C	-	2	0	AF196779.12;WDR45	48820533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.533000	0.67160	1.896000	0.54893	0.532000	0.56150	TGC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		11	12	1	0	0.0692343	1	0.0793662	11	12				
HCLS1	3059	broad.mit.edu	37	3	121351261	121351261	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr3:121351261C>T	ENST00000314583.3	-	12	1249	c.1158G>A	c.(1156-1158)agG>agA	p.R386R	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R349R	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	386					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTGCTCATGCCTGTCCATCT	0.562																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1156-1158)agG>agA		hematopoietic cell-specific Lyn substrate 1							248.0	232.0	238.0					3																	121351261		2203	4300	6503	SO:0001819	synonymous_variant	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351261C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1158G>A	3.37:g.121351261C>T						HCLS1_ENST00000428394.2_Silent_p.R349R|HCLS1_ENST00000473883.1_5'UTR	p.R386R	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1249	-			386					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	c.1158G>A	CCDS3003.1																																																																																				0.562	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		4	201	0	0	0	1	0	4	201				
RFWD2	64326	broad.mit.edu	37	1	176054931	176054931	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:176054931T>C	ENST00000367669.3	-	10	1636	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_ENST00000308769.8_Silent_p.T350T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1120-1122)acA>acG		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							103.0	94.0	97.0					1																	176054931		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054931T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1122A>G	1.37:g.176054931T>C						RFWD2_ENST00000308769.8_Silent_p.T350T	p.T374T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			10	1636	-			374					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1122A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969702	0.18659	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	-9.6619	6.8308	0.23909	0.0:0.0816:0.152:0.7663	.	.	.	.	R	94	.	.	Q	-	2	0	RFWD2	174321554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.198000	0.51035	0.956000	0.37904	0.383000	0.25322	CAA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		3	86	0	0	0	1	0	3	86				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	50	0	0	0	1	0	4	50				
FILIP1	27145	broad.mit.edu	37	6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr6:76022780G>A	ENST00000237172.7	-	5	3098	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2767-2769)gCg>gTg		filamin A interacting protein 1							145.0	139.0	141.0					6																	76022780		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022780G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2768C>T	6.37:g.76022780G>A	ENSP00000237172:p.Ala923Val					FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000237172.7_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR	p.A923V			Q7Z7B0	FLIP1_HUMAN			5	2989	-			923					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2768C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802427	0.90538	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25414	1.81;1.8;1.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.995;0.998	T	0.31668	-0.9935	10	0.66056	D	0.02	-21.1339	20.2723	0.98479	0.0:0.0:1.0:0.0	.	923;923;923	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	923;923;824	ENSP00000376728:A923V;ENSP00000237172:A923V;ENSP00000359037:A824V	ENSP00000237172:A923V	A	-	2	0	FILIP1	76079500	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	7.874000	0.87199	2.793000	0.96121	0.563000	0.77884	GCG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		24	76	0	0	0	1	0	24	76				
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	rs374126308		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		signaling lymphocytic activation molecule family member 1		G	TRP/ARG	0,4406		0,0,2203	127.0	123.0	124.0		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp					SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000494463.1_5'UTR	p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	671	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	72	0	0	0	1	0	4	72				
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						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)			TTTGAAGCCGGCTCCCTCGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5203-5205)gCc>gTc		AHNAK nucleoprotein 2							85.0	97.0	93.0					14																	105416584		1813	4035	5848	SO:0001583	missense	113146					nucleus		g.chr14:105416584G>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.5204C>T	14.37:g.105416584G>A	ENSP00000353114:p.Ala1735Val					AHNAK2_ENST00000557457.1_Intron	p.A1735V	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	5323	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1735					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5204C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.329	0.245997	0.10077	.	.	ENSG00000185567	ENST00000333244	T	0.00784	5.7	4.8	-1.57	0.08506	.	.	.	.	.	T	0.01254	0.0041	L	0.39514	1.22	0.09310	N	1	P	0.48350	0.909	P	0.60012	0.867	T	0.47249	-0.9132	9	0.13853	T	0.58	-8.5045	1.8315	0.03131	0.2507:0.4053:0.2113:0.1327	.	1735	Q8IVF2	AHNK2_HUMAN	V	1735	ENSP00000353114:A1735V	ENSP00000353114:A1735V	A	-	2	0	AHNAK2	104487629	.	.	0.000000	0.03702	0.004000	0.04260	.	.	0.090000	0.17273	0.505000	0.49811	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	207	0	0	0	1	0	4	207				
TCP11L2	255394	broad.mit.edu	37	12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:106715426G>C	ENST00000299045.3	+	5	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V193L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493																																						ENST00000546625.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(577-579)Gtg>Ctg		t-complex 11, testis-specific-like 2							173.0	156.0	162.0					12																	106715426		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106715426G>C	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.577G>C	12.37:g.106715426G>C	ENSP00000299045:p.Val193Leu					TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.V193L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L	p.V193L			Q8N4U5	T11L2_HUMAN			5	736	+			193					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.577G>C	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549194	0.65311	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	5.18	0.71444	.	0.297969	0.36234	N	0.002719	T	0.22513	0.0543	M	0.79805	2.47	0.23616	N	0.997285	P;P;B	0.46859	0.838;0.885;0.338	P;B;B	0.48063	0.565;0.429;0.058	T	0.16247	-1.0409	10	0.12430	T	0.62	-20.4283	10.2898	0.43588	0.2038:0.0:0.7962:0.0	.	193;193;193	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	193	ENSP00000448952:V193L;ENSP00000299045:V193L;ENSP00000449123:V193L;ENSP00000448629:V193L	ENSP00000299045:V193L	V	+	1	0	TCP11L2	105239556	0.229000	0.23729	0.869000	0.34112	0.978000	0.69477	1.286000	0.33273	1.570000	0.49709	0.655000	0.94253	GTG		0.493	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		3	82	0	0	0	1	0	3	82				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	21	0	0	0	1	0	4	21				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	64	0	0	0	1	0	4	64				
SEC14L4	284904	broad.mit.edu	37	22	30890948	30890948	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:30890948G>A	ENST00000255858.7	-	6	507	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SEC14L4_ENST00000381982.3_Splice_Site_p.L142L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site_p.L88L|SEC14L4_ENST00000540456.1_Splice_Site_p.L127L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	142	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587																																						ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.e6-1		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						107.0	86.0	93.0					22																	30890948		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890948G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.424-1C>T	22.37:g.30890948G>A						SEC14L4_ENST00000540456.1_Splice_Site_p.L127_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.L142_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.L142_splice	p.L88_splice			Q9UDX3	S14L4_HUMAN			6	539	-			142			CRAL-TRIO.		A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.261_splice	CCDS13878.1																																																																																				0.587	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Silent	11	34	0	0	0	1	0	11	34				
IGHA2	3494	broad.mit.edu	37	14	106054663	106054663	+	RNA	SNP	C	C	T	rs573891576	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr14:106054663C>T	ENST00000390539.2	-	0	69				AL928742.2_ENST00000578042.1_RNA|AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGGCATGCGACGACCACGTTC	0.632													.|||	2	0.000399361	0.0	0.0014	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.001					ENST00000390539.2																			0																				67.0	75.0	72.0					14																	106054663		2085	4203	6288			0							g.chr14:106054663C>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054663C>T														0	69	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.632	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		4	52	0	0	0	1	0	4	52				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	58	0	0	0	1	0	3	58				
HSPA9	3313	broad.mit.edu	37	5	137902369	137902369	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr5:137902369C>A	ENST00000297185.3	-	9	1043	c.918G>T	c.(916-918)caG>caT	p.Q306H	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	306					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCGTACCCTCTGAAGTGCCA	0.438																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(916-918)caG>caT		heat shock 70kDa protein 9 (mortalin)							157.0	145.0	149.0					5																	137902369		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137902369C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.918G>T	5.37:g.137902369C>A	ENSP00000297185:p.Gln306His					HSPA9_ENST00000501917.2_5'UTR	p.Q306H	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1043	-			306					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.918G>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717351	0.68844	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01133	5.29	4.98	1.23	0.21249	.	0.053636	0.85682	D	0.000000	T	0.11367	0.0277	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01010	-1.1482	10	0.87932	D	0	-9.154	9.57	0.39422	0.0:0.7097:0.0:0.2903	.	237;306	B7Z1V7;P38646	.;GRP75_HUMAN	H	306;259;292	ENSP00000297185:Q306H	ENSP00000297185:Q306H	Q	-	3	2	HSPA9	137930268	0.992000	0.36948	0.998000	0.56505	0.981000	0.71138	0.437000	0.21543	0.003000	0.14656	-0.229000	0.12294	CAG		0.438	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		4	192	1	0	1	1	1	4	192				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	52	0	0	0	1	0	4	52				
SPOCK3	50859	broad.mit.edu	37	4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr4:167810357C>A	ENST00000357154.3	-	7	659	c.522G>T	c.(520-522)caG>caT	p.Q174H	SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(520-522)caG>caT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							128.0	121.0	123.0					4																	167810357		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810357C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.522G>T	4.37:g.167810357C>A	ENSP00000349677:p.Gln174His					SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H	p.Q174H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	7	659	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	174			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.522G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096084	0.36952	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;0.91;3.58;3.58;3.58;0.91;3.58;3.58	5.17	3.35	0.38373	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.198219	0.44688	N	0.000421	T	0.50429	0.1615	L	0.45422	1.42	0.41111	D	0.985743	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.998;0.998;0.998;0.998	P;D;D;D;D;D;D;D	0.85130	0.897;0.969;0.968;0.997;0.996;0.969;0.994;0.996	T	0.44711	-0.9310	10	0.45353	T	0.12	-14.5186	6.7286	0.23371	0.1413:0.6877:0.0:0.171	.	76;78;123;183;171;174;171;174	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	H	174;171;171;174;174;174;171;54;76;171;82;123;76;78;171	ENSP00000349677:Q174H;ENSP00000350153:Q171H;ENSP00000425570:Q171H;ENSP00000420920:Q174H;ENSP00000423421:Q174H;ENSP00000423606:Q174H;ENSP00000426716:Q171H;ENSP00000444789:Q54H;ENSP00000426318:Q76H;ENSP00000425502:Q171H;ENSP00000441396:Q82H;ENSP00000411344:Q123H;ENSP00000445430:Q76H;ENSP00000438142:Q78H;ENSP00000426177:Q171H	ENSP00000349677:Q174H	Q	-	3	2	SPOCK3	168046932	1.000000	0.71417	0.798000	0.32154	0.237000	0.25408	0.795000	0.26972	0.599000	0.29845	0.650000	0.86243	CAG		0.328	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			22	33	1	0	5.26018e-13	1	6.68185e-13	22	33				
LPIN3	64900	broad.mit.edu	37	20	39984584	39984584	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr20:39984584T>C	ENST00000373257.3	+	14	1804	c.1713T>C	c.(1711-1713)ccT>ccC	p.P571P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1711-1713)ccT>ccC		lipin 3							338.0	254.0	283.0					20																	39984584		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984584T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1713T>C	20.37:g.39984584T>C							p.P571P	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			14	1804	+		Myeloproliferative disorder(115;0.000739)	571					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1713T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	3.783	-0.045297	0.07452	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	-3.91	0.04168	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.43421	D	0.995573	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	-11.6615	8.351	0.32303	0.0:0.5085:0.2903:0.2012	.	.	.	.	P	61	.	.	L	+	2	0	LPIN3	39417998	0.000000	0.05858	0.986000	0.45419	0.382000	0.30200	-1.186000	0.03070	-0.588000	0.05882	-0.464000	0.05259	CTG		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		3	64	0	0	0	1	0	3	64				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	13	0	0	0	1	0	3	13				
ALAS1	211	broad.mit.edu	37	3	52246392	52246392	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr3:52246392C>T	ENST00000394965.2	+	11	2078	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	573					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CTACGGATTGCCCCCACCCCT	0.517																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1717-1719)gCc>gTc		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						237.0	256.0	250.0					3																	52246392		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246392C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1718C>T	3.37:g.52246392C>T	ENSP00000378416:p.Ala573Val					ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V	p.A573V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	2078	+			573						Missense_Mutation	SNP	ENST00000394965.2	37	c.1718C>T	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320140|3.320140	0.60634|0.60634	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000493402	D;D;D;D|.	0.90732|.	-2.72;-2.72;-2.72;-2.72|.	5.22|5.22	4.35|4.35	0.52113|0.52113	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.049537|.	0.85682|.	D|.	0.000000|.	T|T	0.69780|0.69780	0.3149|0.3149	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.59012|.	0.85;0.85|.	T|T	0.68754|0.68754	-0.5325|-0.5325	10|5	0.66056|.	D|.	0.02|.	-24.3309|-24.3309	15.9851|15.9851	0.80144|0.80144	0.0:0.865:0.135:0.0|0.0:0.865:0.135:0.0	.|.	590;573|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	V|S	573|170	ENSP00000417719:A573V;ENSP00000378416:A573V;ENSP00000309259:A573V;ENSP00000418779:A573V|.	ENSP00000309259:A573V|.	A|P	+|+	2|1	0|0	ALAS1|ALAS1	52221432|52221432	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.056000|0.056000	0.15407|0.15407	6.083000|6.083000	0.71326|0.71326	1.202000|1.202000	0.43218|0.43218	-0.127000|-0.127000	0.14921|0.14921	GCC|CCC		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			5	329	0	0	0	1	0	5	329				
PCNT	5116	broad.mit.edu	37	21	47783836	47783836	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr21:47783836C>T	ENST00000359568.5	+	14	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	866					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCTGATGCTGGCCCGGAG	0.677																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2596-2598)Ctg>Ttg		pericentrin							38.0	44.0	42.0					21																	47783836		2180	4265	6445	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783836C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2596C>T	21.37:g.47783836C>T						PCNT_ENST00000480896.1_3'UTR	p.L866L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			14	2703	+	Breast(49;0.112)		866					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2596C>T	CCDS33592.1																																																																																				0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	91	0	0	0	1	0	3	91				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	211	0	0	0	1	0	4	211				
ATP6V0C	527	broad.mit.edu	37	16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr16:2569368G>T	ENST00000330398.4	+	2	463	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R372L|AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	77					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGTCCTCATCGCCAACTCCCT	0.612																																						ENST00000564543.1																			0											c.(1114-1116)cGc>cTc									91.0	69.0	76.0					16																	2569368		2198	4300	6498	SO:0001583	missense	0							g.chr16:2569368G>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.229G>T	16.37:g.2569368G>T	ENSP00000329757:p.Ala77Ser					ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A77S	p.R372L							2	1232	+								Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1115G>T	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262072	0.39995	.	.	ENSG00000185883	ENST00000330398	T	0.40225	1.04	4.85	3.9	0.45041	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	N	0.12611	0.24	0.58432	D	0.999998	B	0.15719	0.014	B	0.22386	0.039	T	0.04522	-1.0945	10	0.13108	T	0.6	-3.3277	11.9352	0.52870	0.0854:0.0:0.9146:0.0	.	77	P27449	VATL_HUMAN	S	77	ENSP00000329757:A77S	ENSP00000329757:A77S	A	+	1	0	ATP6V0C	2509369	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.895000	0.87343	1.055000	0.40461	-0.265000	0.10407	GCC		0.612	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		3	64	1	0	1	1	1	3	64				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	57	0	0	0	1	0	3	57				
IDE	3416	broad.mit.edu	37	10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr10:94214212C>T	ENST00000265986.6	-	25	3105	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A462T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1017					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAGAGTTTTGCAGCCATGAAG	0.433																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3049-3051)Gca>Aca		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	151.0	151.0					10																	94214212		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214212C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3049G>A	10.37:g.94214212C>T	ENSP00000265986:p.Ala1017Thr					IDE_ENST00000371581.5_Missense_Mutation_p.A462T|IDE_ENST00000496903.1_5'UTR	p.A1017T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			25	3105	-			1017					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.3049G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955730	0.73902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34859	1.34;1.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.58432	D	0.999999	B;D	0.54207	0.292;0.965	B;P	0.46299	0.038;0.511	T	0.04495	-1.0947	10	0.24483	T	0.36	-13.0314	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1017;462	P14735;B3KSB8	IDE_HUMAN;.	T	1017;462	ENSP00000265986:A1017T;ENSP00000360637:A462T	ENSP00000265986:A1017T	A	-	1	0	IDE	94204192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.475000	0.66787	2.788000	0.95919	0.650000	0.86243	GCA		0.433	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		4	129	0	0	0	1	0	4	129				
SLC43A3	29015	broad.mit.edu	37	11	57175307	57175307	+	Silent	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr11:57175307C>A	ENST00000395123.2	-	14	1738	c.1434G>T	c.(1432-1434)cgG>cgT	p.R478R	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000395124.1_Silent_p.R478R|SLC43A3_ENST00000529554.1_Silent_p.R478R|SLC43A3_ENST00000352187.1_Silent_p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TACGGCATTCCCGATATACCA	0.468																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1432-1434)cgG>cgT		solute carrier family 43, member 3							123.0	103.0	110.0					11																	57175307		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57175307C>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1434G>T	11.37:g.57175307C>A						SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000529554.1_Silent_p.R478R|SLC43A3_ENST00000395124.1_Silent_p.R478R|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000352187.1_Silent_p.R478R	p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			14	1738	-			478					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1434G>T	CCDS7956.1																																																																																				0.468	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		3	53	1	0	1	1	1	3	53				
UBR5	51366	broad.mit.edu	37	8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr8:103297922G>A	ENST00000520539.1	-	39	5909	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTTCCAAAGCAGCTGCTGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)gCt>gTt		ubiquitin protein ligase E3 component n-recognin 5							72.0	68.0	70.0					8																	103297922		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297922G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5303C>T	8.37:g.103297922G>A	ENSP00000429084:p.Ala1768Val					UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	p.A1768V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	5909	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5303C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174184	0.78452	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.52726	-0.8537	10	0.33940	T	0.23	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	V	1768;1768;1762	ENSP00000429084:A1768V;ENSP00000220959:A1768V;ENSP00000427819:A1762V	ENSP00000220959:A1768V	A	-	2	0	UBR5	103367098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	49	0	0	0	1	0	10	49				
ARVCF	421	broad.mit.edu	37	22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr22:19960732A>G	ENST00000263207.3	-	14	2639	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T|ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2347-2349)aTc>aCc		armadillo repeat gene deleted in velocardiofacial syndrome							33.0	27.0	29.0					22																	19960732		2198	4294	6492	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960732A>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2348T>C	22.37:g.19960732A>G	ENSP00000263207:p.Ile783Thr					ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T	p.I783T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			14	2639	-	Colorectal(54;0.0993)		783					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2348T>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890383	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	B;P	0.37914	0.145;0.611	B;B	0.41332	0.112;0.354	T	0.60682	-0.7215	9	.	.	.	-13.0459	12.9426	0.58354	1.0:0.0:0.0:0.0	.	783;299	O00192;E7EV58	ARVC_HUMAN;.	T	783;720;720;714;777	ENSP00000263207:I783T;ENSP00000342042:I720T;ENSP00000384341:I720T;ENSP00000384732:I714T;ENSP00000385444:I777T	.	I	-	2	0	ARVCF	18340732	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.582000	0.74049	1.956000	0.56807	0.459000	0.35465	ATC		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		6	11	0	0	0	1	0	6	11				
WDR45	11152	broad.mit.edu	37	X	48933589	48933589	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chrX:48933589C>A	ENST00000376372.3	-	7	633	c.452G>T	c.(451-453)tGc>tTc	p.C151F	WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|AF196779.12_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000356463.3_Missense_Mutation_p.C152F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|PRAF2_ENST00000376390.4_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	151					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(454-456)tGc>tTc		WD repeat domain 45							56.0	44.0	48.0					X																	48933589		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933589C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.452G>T	X.37:g.48933589C>A	ENSP00000365551:p.Cys151Phe					WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|WDR45_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000376372.3_Missense_Mutation_p.C151F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000470270.1_5'UTR	p.C152F	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			8	893	-			151					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.455G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993589	0.54041	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.92	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.83118	2.625	0.80722	D	1	D;B;B;B;B;P	0.56287	0.975;0.003;0.005;0.007;0.001;0.939	B;B;B;B;B;P	0.50192	0.356;0.003;0.011;0.011;0.011;0.634	D	0.87352	0.2338	10	0.87932	D	0	-14.9901	14.6881	0.69065	0.0:1.0:0.0:0.0	.	49;151;162;116;152;151	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	49;151;162;152;116;151;152;151;84;117;176;169;127;49	ENSP00000451962:C49F;ENSP00000365551:C151F;ENSP00000365543:C162F;ENSP00000348848:C152F;ENSP00000419897:C116F;ENSP00000417211:C151F;ENSP00000365546:C152F;ENSP00000379913:C151F;ENSP00000418466:C84F;ENSP00000418919:C117F;ENSP00000420728:C176F;ENSP00000393640:C169F;ENSP00000419324:C127F;ENSP00000365536:C49F	ENSP00000365536:C49F	C	-	2	0	AF196779.12;WDR45	48820533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.533000	0.67160	1.896000	0.54893	0.532000	0.56150	TGC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		11	12	1	0	0.0692343	1	0.0794158	11	12				
HCLS1	3059	broad.mit.edu	37	3	121351261	121351261	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr3:121351261C>T	ENST00000314583.3	-	12	1249	c.1158G>A	c.(1156-1158)agG>agA	p.R386R	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R349R	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	386					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTGCTCATGCCTGTCCATCT	0.562																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1156-1158)agG>agA		hematopoietic cell-specific Lyn substrate 1							248.0	232.0	238.0					3																	121351261		2203	4300	6503	SO:0001819	synonymous_variant	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351261C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1158G>A	3.37:g.121351261C>T						HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R349R	p.R386R	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1249	-			386					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	c.1158G>A	CCDS3003.1																																																																																				0.562	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		4	201	0	0	0	1	0	4	201				
RFWD2	64326	broad.mit.edu	37	1	176054931	176054931	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr1:176054931T>C	ENST00000367669.3	-	10	1636	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_ENST00000308769.8_Silent_p.T350T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1120-1122)acA>acG		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							103.0	94.0	97.0					1																	176054931		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054931T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1122A>G	1.37:g.176054931T>C						RFWD2_ENST00000308769.8_Silent_p.T350T	p.T374T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			10	1636	-			374					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1122A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969702	0.18659	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	-9.6619	6.8308	0.23909	0.0:0.0816:0.152:0.7663	.	.	.	.	R	94	.	.	Q	-	2	0	RFWD2	174321554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.198000	0.51035	0.956000	0.37904	0.383000	0.25322	CAA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		3	86	0	0	0	1	0	3	86				
SPATA31D1	389763	broad.mit.edu	37	9	84610059	84610059	+	Silent	SNP	T	T	C	rs200816660	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr9:84610059T>C	ENST00000344803.2	+	4	4721	c.4674T>C	c.(4672-4674)acT>acC	p.T1558T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1558					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTTCCTAACTGGACAGAAAA	0.473													T|||	7	0.00139776	0.0	0.0	5008	,	,		18402	0.0		0.007	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(4672-4674)acT>acC		SPATA31 subfamily D, member 1		T		2,3956		0,2,1977	14.0	14.0	14.0		4674	-1.9	0.0	9		14	26,8304		0,26,4139	no	coding-synonymous	FAM75D1	NM_001001670.2		0,28,6116	CC,CT,TT		0.3121,0.0505,0.2279		1558/1577	84610059	28,12260	1979	4165	6144	SO:0001819	synonymous_variant	389763							g.chr9:84610059T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4674T>C	9.37:g.84610059T>C							p.T1558T	NM_001001670.2	NP_001001670.1					4	4721	+									Silent	SNP	ENST00000344803.2	37	c.4674T>C	CCDS47986.1																																																																																				0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		5	2	0	0	0	1	0	5	2				
FILIP1	27145	broad.mit.edu	37	6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr6:76022780G>A	ENST00000237172.7	-	5	3098	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2767-2769)gCg>gTg		filamin A interacting protein 1							145.0	139.0	141.0					6																	76022780		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022780G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2768C>T	6.37:g.76022780G>A	ENSP00000237172:p.Ala923Val					FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000237172.7_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR	p.A923V			Q7Z7B0	FLIP1_HUMAN			5	2989	-			923					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2768C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802427	0.90538	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25414	1.81;1.8;1.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.995;0.998	T	0.31668	-0.9935	10	0.66056	D	0.02	-21.1339	20.2723	0.98479	0.0:0.0:1.0:0.0	.	923;923;923	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	923;923;824	ENSP00000376728:A923V;ENSP00000237172:A923V;ENSP00000359037:A824V	ENSP00000237172:A923V	A	-	2	0	FILIP1	76079500	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	7.874000	0.87199	2.793000	0.96121	0.563000	0.77884	GCG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		24	76	0	0	0	1	0	24	76				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	64	0	0	0	1	0	4	64				
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	rs374126308		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		signaling lymphocytic activation molecule family member 1		G	TRP/ARG	0,4406		0,0,2203	127.0	123.0	124.0		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp					SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W	p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	671	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	72	0	0	0	1	0	4	72				
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						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)			TTTGAAGCCGGCTCCCTCGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5203-5205)gCc>gTc		AHNAK nucleoprotein 2							85.0	97.0	93.0					14																	105416584		1813	4035	5848	SO:0001583	missense	113146					nucleus		g.chr14:105416584G>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.5204C>T	14.37:g.105416584G>A	ENSP00000353114:p.Ala1735Val					AHNAK2_ENST00000557457.1_Intron	p.A1735V	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	5323	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1735					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5204C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.329	0.245997	0.10077	.	.	ENSG00000185567	ENST00000333244	T	0.00784	5.7	4.8	-1.57	0.08506	.	.	.	.	.	T	0.01254	0.0041	L	0.39514	1.22	0.09310	N	1	P	0.48350	0.909	P	0.60012	0.867	T	0.47249	-0.9132	9	0.13853	T	0.58	-8.5045	1.8315	0.03131	0.2507:0.4053:0.2113:0.1327	.	1735	Q8IVF2	AHNK2_HUMAN	V	1735	ENSP00000353114:A1735V	ENSP00000353114:A1735V	A	-	2	0	AHNAK2	104487629	.	.	0.000000	0.03702	0.004000	0.04260	.	.	0.090000	0.17273	0.505000	0.49811	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	207	0	0	0	1	0	4	207				
CYP21A1P	1590	broad.mit.edu	37	6	31975113	31975113	+	5'Flank	SNP	G	G	C	rs62402680	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr6:31975113G>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCGCAGCCGAGCATGGAAGAG	0.627													G|||	1072	0.214058	0.3593	0.1671	5008	,	,		16916	0.1032		0.1481	False		,,,				2504	0.2331					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975113G>C																													6.37:g.31975113G>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1236	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.627	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	47	0	0	0	1	0	3	47				
SEC14L4	284904	broad.mit.edu	37	22	30890948	30890948	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr22:30890948G>A	ENST00000255858.7	-	6	507	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SEC14L4_ENST00000381982.3_Splice_Site_p.L142L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site_p.L88L|SEC14L4_ENST00000540456.1_Splice_Site_p.L127L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	142	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587																																						ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.e6-1		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						107.0	86.0	93.0					22																	30890948		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890948G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.424-1C>T	22.37:g.30890948G>A						SEC14L4_ENST00000540456.1_Splice_Site_p.L127_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.L142_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.L142_splice	p.L88_splice			Q9UDX3	S14L4_HUMAN			6	539	-			142			CRAL-TRIO.		A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.261_splice	CCDS13878.1																																																																																				0.587	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Silent	11	34	0	0	0	1	0	11	34				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	58	0	0	0	1	0	3	58				
HSPA9	3313	broad.mit.edu	37	5	137902369	137902369	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr5:137902369C>A	ENST00000297185.3	-	9	1043	c.918G>T	c.(916-918)caG>caT	p.Q306H	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	306					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCGTACCCTCTGAAGTGCCA	0.438																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(916-918)caG>caT		heat shock 70kDa protein 9 (mortalin)							157.0	145.0	149.0					5																	137902369		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137902369C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.918G>T	5.37:g.137902369C>A	ENSP00000297185:p.Gln306His					HSPA9_ENST00000501917.2_5'UTR	p.Q306H	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1043	-			306					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.918G>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717351	0.68844	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01133	5.29	4.98	1.23	0.21249	.	0.053636	0.85682	D	0.000000	T	0.11367	0.0277	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01010	-1.1482	10	0.87932	D	0	-9.154	9.57	0.39422	0.0:0.7097:0.0:0.2903	.	237;306	B7Z1V7;P38646	.;GRP75_HUMAN	H	306;259;292	ENSP00000297185:Q306H	ENSP00000297185:Q306H	Q	-	3	2	HSPA9	137930268	0.992000	0.36948	0.998000	0.56505	0.981000	0.71138	0.437000	0.21543	0.003000	0.14656	-0.229000	0.12294	CAG		0.438	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		4	192	1	0	1	1	1	4	192				
TCP11L2	255394	broad.mit.edu	37	12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr12:106715426G>C	ENST00000299045.3	+	5	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V193L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493																																						ENST00000546625.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(577-579)Gtg>Ctg		t-complex 11, testis-specific-like 2							173.0	156.0	162.0					12																	106715426		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106715426G>C	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.577G>C	12.37:g.106715426G>C	ENSP00000299045:p.Val193Leu					TCP11L2_ENST00000299045.3_Missense_Mutation_p.V193L|TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L	p.V193L			Q8N4U5	T11L2_HUMAN			5	736	+			193					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.577G>C	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549194	0.65311	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	5.18	0.71444	.	0.297969	0.36234	N	0.002719	T	0.22513	0.0543	M	0.79805	2.47	0.23616	N	0.997285	P;P;B	0.46859	0.838;0.885;0.338	P;B;B	0.48063	0.565;0.429;0.058	T	0.16247	-1.0409	10	0.12430	T	0.62	-20.4283	10.2898	0.43588	0.2038:0.0:0.7962:0.0	.	193;193;193	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	193	ENSP00000448952:V193L;ENSP00000299045:V193L;ENSP00000449123:V193L;ENSP00000448629:V193L	ENSP00000299045:V193L	V	+	1	0	TCP11L2	105239556	0.229000	0.23729	0.869000	0.34112	0.978000	0.69477	1.286000	0.33273	1.570000	0.49709	0.655000	0.94253	GTG		0.493	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		3	82	0	0	0	1	0	3	82				
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr9:8499764G>A	ENST00000381196.4	-	22	2748	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - coding silent(1)	p.P735P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2203-2205)ccC>ccT		protein tyrosine phosphatase, receptor type, D							172.0	150.0	157.0					9																	8499764		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499764G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>T	9.37:g.8499764G>A		TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron	p.P735P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2748	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	735			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>T	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	89	0	0	0	1	0	3	89				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	38	0	0	0	1	0	4	38				
MYH1	4619	broad.mit.edu	37	17	10402290	10402290	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr17:10402290C>A	ENST00000226207.5	-	29	4079		c.e29+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGAGCTTACCTTTATCTCC	0.398																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e29+1		myosin, heavy chain 1, skeletal muscle, adult							185.0	162.0	170.0					17																	10402290		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402290C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3984+1G>T	17.37:g.10402290C>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA		NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			29	4079	-								Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37		CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948968	0.73787	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10343015	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	7.750000	0.85110	2.690000	0.91761	0.655000	0.94253	.		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	5	56	1	0	5.9392e-07	1	7.2384e-07	5	56				
SPOCK3	50859	broad.mit.edu	37	4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr4:167810357C>A	ENST00000357154.3	-	7	659	c.522G>T	c.(520-522)caG>caT	p.Q174H	SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(520-522)caG>caT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							128.0	121.0	123.0					4																	167810357		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810357C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.522G>T	4.37:g.167810357C>A	ENSP00000349677:p.Gln174His					SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H	p.Q174H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	7	659	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	174			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.522G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096084	0.36952	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;0.91;3.58;3.58;3.58;0.91;3.58;3.58	5.17	3.35	0.38373	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.198219	0.44688	N	0.000421	T	0.50429	0.1615	L	0.45422	1.42	0.41111	D	0.985743	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.998;0.998;0.998;0.998	P;D;D;D;D;D;D;D	0.85130	0.897;0.969;0.968;0.997;0.996;0.969;0.994;0.996	T	0.44711	-0.9310	10	0.45353	T	0.12	-14.5186	6.7286	0.23371	0.1413:0.6877:0.0:0.171	.	76;78;123;183;171;174;171;174	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	H	174;171;171;174;174;174;171;54;76;171;82;123;76;78;171	ENSP00000349677:Q174H;ENSP00000350153:Q171H;ENSP00000425570:Q171H;ENSP00000420920:Q174H;ENSP00000423421:Q174H;ENSP00000423606:Q174H;ENSP00000426716:Q171H;ENSP00000444789:Q54H;ENSP00000426318:Q76H;ENSP00000425502:Q171H;ENSP00000441396:Q82H;ENSP00000411344:Q123H;ENSP00000445430:Q76H;ENSP00000438142:Q78H;ENSP00000426177:Q171H	ENSP00000349677:Q174H	Q	-	3	2	SPOCK3	168046932	1.000000	0.71417	0.798000	0.32154	0.237000	0.25408	0.795000	0.26972	0.599000	0.29845	0.650000	0.86243	CAG		0.328	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			22	33	1	0	5.26018e-13	1	6.61764e-13	22	33				
LPIN3	64900	broad.mit.edu	37	20	39984584	39984584	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr20:39984584T>C	ENST00000373257.3	+	14	1804	c.1713T>C	c.(1711-1713)ccT>ccC	p.P571P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1711-1713)ccT>ccC		lipin 3							338.0	254.0	283.0					20																	39984584		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984584T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1713T>C	20.37:g.39984584T>C							p.P571P	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			14	1804	+		Myeloproliferative disorder(115;0.000739)	571					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1713T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	3.783	-0.045297	0.07452	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	-3.91	0.04168	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.43421	D	0.995573	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	-11.6615	8.351	0.32303	0.0:0.5085:0.2903:0.2012	.	.	.	.	P	61	.	.	L	+	2	0	LPIN3	39417998	0.000000	0.05858	0.986000	0.45419	0.382000	0.30200	-1.186000	0.03070	-0.588000	0.05882	-0.464000	0.05259	CTG		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		3	64	0	0	0	1	0	3	64				
ALAS1	211	broad.mit.edu	37	3	52246392	52246392	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr3:52246392C>T	ENST00000394965.2	+	11	2078	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	573					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CTACGGATTGCCCCCACCCCT	0.517																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1717-1719)gCc>gTc		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						237.0	256.0	250.0					3																	52246392		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246392C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1718C>T	3.37:g.52246392C>T	ENSP00000378416:p.Ala573Val					ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V|ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V	p.A573V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	2078	+			573						Missense_Mutation	SNP	ENST00000394965.2	37	c.1718C>T	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320140|3.320140	0.60634|0.60634	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000493402	D;D;D;D|.	0.90732|.	-2.72;-2.72;-2.72;-2.72|.	5.22|5.22	4.35|4.35	0.52113|0.52113	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.049537|.	0.85682|.	D|.	0.000000|.	T|T	0.69780|0.69780	0.3149|0.3149	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.59012|.	0.85;0.85|.	T|T	0.68754|0.68754	-0.5325|-0.5325	10|5	0.66056|.	D|.	0.02|.	-24.3309|-24.3309	15.9851|15.9851	0.80144|0.80144	0.0:0.865:0.135:0.0|0.0:0.865:0.135:0.0	.|.	590;573|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	V|S	573|170	ENSP00000417719:A573V;ENSP00000378416:A573V;ENSP00000309259:A573V;ENSP00000418779:A573V|.	ENSP00000309259:A573V|.	A|P	+|+	2|1	0|0	ALAS1|ALAS1	52221432|52221432	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.056000|0.056000	0.15407|0.15407	6.083000|6.083000	0.71326|0.71326	1.202000|1.202000	0.43218|0.43218	-0.127000|-0.127000	0.14921|0.14921	GCC|CCC		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			5	329	0	0	0	1	0	5	329				
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			8	1						8	1	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-	rs529014403	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr3:195452664delC	ENST00000447234.2	+	2	1316	c.1190delC	c.(1189-1191)accfs	p.T397fs	MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs|MUC20_ENST00000320736.6_Frame_Shift_Del_p.T226fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													cccca|CCCCC|CCCC|complex_deletion	91	0.0181709	0.0113	0.0317	5008	,	,		25286	0.0		0.0477	False		,,,				2504	0.0061					ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(676-678)acfs		mucin 20, cell surface associated			,	39,2389		2,35,1177	3.0	3.0	3.0		,	-0.2	0.0	3		3	243,4923		47,149,2387	no	intron,intron	MUC20	NM_152673.2,NM_001098516.1	,	49,184,3564	A1A1,A1R,RR		4.7038,1.6063,3.7135	,	,	195452664	282,7312	1585	3449	5034	SO:0001589	frameshift_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452664delC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1190delC	3.37:g.195452664delC	ENSP00000414350:p.Thr397fs					MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs	p.T226fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	803	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	397		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	37	c.677delC																																																																																					0.587	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		6	5						6	5	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		7	19						7	19	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)cagcaa>caa	p.3203_3204QQ>Q	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.2289_2290QQ>Q|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.65																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9607-9612)caa>ca		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822564_72822566delTGC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9609_9611delGCA	16.37:g.72822573_72822575delTGC	ENSP00000268489:p.Gln3204del					ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del	p.QQ3203del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10281_10283	-		Ovarian(137;0.13)	3203			Poly-Gln.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.9609_9611delGCA	CCDS10908.1																																																																																				0.650	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	208						8	208	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	9						4	9	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		7	19						7	19	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			5	4						5	4	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142933	5142936	+	RNA	DEL	ACTT	ACTT	-	rs369996791	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr11:5142933_5142936delACTT	ENST00000498233.1	-	0	462_465							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACTCCATCAACTTACTTATCTTT	0.333														32	0.00638978	0.0	0.0259	5008	,	,		18880	0.0		0.0129	False		,,,				2504	0.001					ENST00000498233.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22																																														0							g.chr11:5142933_5142936delACTT			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142937_5142940delACTT													Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	0	462_465	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							RNA	DEL	ENST00000498233.1	37																																																																																						0.333	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		7	9						7	9	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	224						7	224	---	---	---	---
