#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
SCNN1G	6340	broad.mit.edu	37	16	23197657	23197657	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr16:23197657C>A	ENST00000300061.2	+	2	208	c.65C>A	c.(64-66)gCg>gAg	p.A22E		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	22					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCCTCAGGCGCCGACCATT	0.612																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(64-66)gCg>gAg		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						53.0	56.0	55.0					16																	23197657		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23197657C>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.65C>A	16.37:g.23197657C>A	ENSP00000300061:p.Ala22Glu						p.A22E	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	2	208	+			22					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.65C>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537694	0.45176	.	.	ENSG00000166828	ENST00000300061	T	0.71222	-0.55	5.43	4.47	0.54385	.	0.142666	0.48286	D	0.000182	T	0.68742	0.3034	N	0.08118	0	0.43467	D	0.995672	D	0.89917	1.0	D	0.91635	0.999	T	0.69741	-0.5063	10	0.27785	T	0.31	-21.192	14.9185	0.70815	0.0:0.8559:0.1441:0.0	.	22	P51170	SCNNG_HUMAN	E	22	ENSP00000300061:A22E	ENSP00000300061:A22E	A	+	2	0	SCNN1G	23105158	0.992000	0.36948	0.999000	0.59377	0.111000	0.19643	2.894000	0.48640	1.264000	0.44198	-0.305000	0.09177	GCG		0.612	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		16	23	1	0	1.02788e-11	1	1.18304e-11	16	23				
NEU3	10825	broad.mit.edu	37	11	74717144	74717144	+	Silent	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:74717144T>A	ENST00000544263.1	+	4	1064	c.894T>A	c.(892-894)tcT>tcA	p.S298S	NEU3_ENST00000545272.1_Silent_p.S222S|NEU3_ENST00000531509.1_Silent_p.S331S|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000294064.4_Silent_p.S331S			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	298					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCCAGGACTCTAGCAGCAAAG	0.572																																						ENST00000294064.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(991-993)tcT>tcA		sialidase 3 (membrane sialidase)							44.0	48.0	47.0					11																	74717144		2038	4203	6241	SO:0001819	synonymous_variant	10825							g.chr11:74717144T>A	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.894T>A	11.37:g.74717144T>A						NEU3_ENST00000529024.1_Intron|NEU3_ENST00000531509.1_Silent_p.S331S|NEU3_ENST00000545272.1_Silent_p.S222S|NEU3_ENST00000544263.1_Silent_p.S298S|NEU3_ENST00000532963.1_3'UTR	p.S331S	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN			3	1920	+			331					A8K327|Q9NQE1	Silent	SNP	ENST00000544263.1	37	c.993T>A																																																																																					0.572	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		20	19	0	0	0	1	0	20	19				
GOLGA3	2802	broad.mit.edu	37	12	133358906	133358906	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr12:133358906T>C	ENST00000450791.2	-	16	3624	c.3441A>G	c.(3439-3441)gcA>gcG	p.A1147A	GOLGA3_ENST00000456883.2_Silent_p.A1147A|GOLGA3_ENST00000204726.3_Silent_p.A1147A			Q08378	GOGA3_HUMAN	golgin A3	1147					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGACTAGGTCTGCCTCCCTCT	0.547																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3439-3441)gcA>gcG		golgin A3							271.0	225.0	240.0					12																	133358906		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133358906T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3441A>G	12.37:g.133358906T>C						GOLGA3_ENST00000456883.2_Silent_p.A1147A|GOLGA3_ENST00000450791.2_Silent_p.A1147A	p.A1147A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	3999	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1147					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3441A>G	CCDS9281.1																																																																																				0.547	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		7	118	0	0	0	1	0	7	118				
AMELX	265	broad.mit.edu	37	X	11317075	11317075	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:11317075G>A	ENST00000380714.3	+	5	620	c.552G>A	c.(550-552)aaG>aaA	p.K184K	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Silent_p.K198K|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Silent_p.K168K|ARHGAP6_ENST00000380718.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	184					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAACAGACAAGACCAAGCGGG	0.542																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(592-594)aaG>aaA		amelogenin, X-linked							36.0	30.0	32.0					X																	11317075		2203	4300	6503	SO:0001819	synonymous_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11317075G>A		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.552G>A	X.37:g.11317075G>A						AMELX_ENST00000380714.3_Silent_p.K184K|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Silent_p.K168K|ARHGAP6_ENST00000380736.1_Intron	p.K198K	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			6	662	+			184					Q96NW6|Q9UCA7	Silent	SNP	ENST00000380714.3	37	c.594G>A	CCDS14144.1																																																																																				0.542	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		12	20	0	0	0	1	0	12	20				
ZNF43	7594	broad.mit.edu	37	19	21991522	21991522	+	Silent	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:21991522T>A	ENST00000354959.4	-	4	1486	c.1317A>T	c.(1315-1317)tcA>tcT	p.S439S	ZNF43_ENST00000598381.1_Silent_p.S433S|ZNF43_ENST00000594012.1_Silent_p.S433S|ZNF43_ENST00000595461.1_Silent_p.S433S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGTAAGGGTTGAGGGCCAGT	0.388																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1297-1299)tcA>tcT		zinc finger protein 43							60.0	63.0	62.0					19																	21991522		2199	4296	6495	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991522T>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1317A>T	19.37:g.21991522T>A						ZNF43_ENST00000354959.4_Silent_p.S439S|ZNF43_ENST00000598381.1_Silent_p.S433S|ZNF43_ENST00000595461.1_Silent_p.S433S	p.S433S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1813	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	439					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1299A>T	CCDS12413.2																																																																																				0.388	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		27	45	0	0	0	1	0	27	45				
UGT2B4	7363	broad.mit.edu	37	4	70355278	70355278	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:70355278T>A	ENST00000305107.6	-	3	927	c.881A>T	c.(880-882)gAg>gTg	p.E294V	UGT2B4_ENST00000381096.3_Missense_Mutation_p.E158V|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E294V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	294					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CTGGACAAACTCTTCCATTTC	0.383																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(880-882)gAg>gTg		UDP glucuronosyltransferase 2 family, polypeptide B4							109.0	110.0	110.0					4																	70355278		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355278T>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.881A>T	4.37:g.70355278T>A	ENSP00000305221:p.Glu294Val					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E294V|UGT2B4_ENST00000381096.3_Missense_Mutation_p.E158V	p.E294V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			3	927	-			294					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.881A>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469857	0.26423	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.65178	-0.14;-0.14;3.09	2.25	0.978	0.19740	.	0.349077	0.25680	U	0.029012	T	0.70710	0.3255	M	0.84433	2.695	0.27276	N	0.958237	P;P;B	0.41265	0.732;0.744;0.433	P;P;P	0.51550	0.673;0.615;0.561	T	0.64685	-0.6349	10	0.87932	D	0	.	6.6362	0.22885	0.0:0.0:0.2438:0.7562	.	158;294;294	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	V	294;294;158	ENSP00000421290:E294V;ENSP00000305221:E294V;ENSP00000370486:E158V	ENSP00000305221:E294V	E	-	2	0	UGT2B4	70389867	0.959000	0.32827	0.453000	0.27007	0.025000	0.11179	1.628000	0.37060	0.295000	0.22570	0.254000	0.18369	GAG		0.383	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		32	167	0	0	0	1	0	32	167				
PEAK1	79834	broad.mit.edu	37	15	77472399	77472399	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:77472399T>C	ENST00000560626.2	-	4	2345	c.1870A>G	c.(1870-1872)Atc>Gtc	p.I624V	PEAK1_ENST00000312493.4_Missense_Mutation_p.I624V|PEAK1_ENST00000558305.1_Missense_Mutation_p.I624V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	624					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGAACTTTGATAGCATTTTTG	0.353																																						ENST00000560626.2																			0											c.(1870-1872)Atc>Gtc		pseudopodium-enriched atypical kinase 1							111.0	105.0	107.0					15																	77472399		1853	4090	5943	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472399T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1870A>G	15.37:g.77472399T>C	ENSP00000452796:p.Ile624Val					PEAK1_ENST00000312493.4_Missense_Mutation_p.I624V|PEAK1_ENST00000558305.1_Missense_Mutation_p.I624V	p.I624V			Q9H792	PEAK1_HUMAN			4	2345	-			624					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1870A>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	6.100	0.386686	0.11524	.	.	ENSG00000173517	ENST00000312493	T	0.38722	1.12	5.88	4.76	0.60689	.	0.182570	0.20996	U	0.081954	T	0.24044	0.0582	N	0.12746	0.255	0.31559	N	0.657833	B	0.21520	0.057	B	0.17722	0.019	T	0.17289	-1.0374	10	0.33141	T	0.24	-11.4708	9.125	0.36810	0.0:0.1405:0.0:0.8595	.	624	Q9H792	PEAK1_HUMAN	V	624	ENSP00000309230:I624V	ENSP00000309230:I624V	I	-	1	0	AC087465.1	75259454	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.706000	0.61845	1.048000	0.40298	0.482000	0.46254	ATC		0.353	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			22	77	0	0	0	1	0	22	77				
TVP23A	780776	broad.mit.edu	37	16	10867944	10867944	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr16:10867944G>T	ENST00000299866.8	-	4	567	c.276C>A	c.(274-276)aaC>aaA	p.N92K	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	92						integral component of membrane (GO:0016021)											CATCTATCTGGTTCCACCATC	0.493																																						ENST00000299866.8																			0											c.(274-276)aaC>aaA		trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)							79.0	76.0	77.0					16																	10867944		1877	4106	5983	SO:0001583	missense	780776							g.chr16:10867944G>T		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.276C>A	16.37:g.10867944G>T	ENSP00000299866:p.Asn92Lys					TVP23A_ENST00000572980.1_5'UTR	p.N92K	NM_001079512.2	NP_001072980.1					4	567	-								B2RUV4|B7ZW18	Missense_Mutation	SNP	ENST00000299866.8	37	c.276C>A	CCDS45408.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986802	0.74589	.	.	ENSG00000166676	ENST00000456096;ENST00000299866	T;T	0.50001	0.76;0.76	5.32	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.93594	3.435	0.50632	D	0.99988	D	0.89917	1.0	D	0.91635	0.999	T	0.77335	-0.2626	10	0.66056	D	0.02	-49.7365	10.6552	0.45671	0.165:0.0:0.835:0.0	.	92	A6NH52	FA18A_HUMAN	K	67;92	ENSP00000411972:N67K;ENSP00000299866:N92K	ENSP00000299866:N92K	N	-	3	2	FAM18A	10775445	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.356000	0.44116	0.679000	0.31345	0.655000	0.94253	AAC		0.493	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		4	13	1	0	0.00909568	1	0.00940401	4	13				
PRR22	163154	broad.mit.edu	37	19	5783642	5783642	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:5783642G>A	ENST00000419421.2	-	3	720	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	206	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTGGGGGCAGTGTGGGCTCT	0.706																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(616-618)Ctg>Ttg		proline rich 22							13.0	16.0	15.0					19																	5783642		2187	4294	6481	SO:0001819	synonymous_variant	163154							g.chr19:5783642G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.616C>T	19.37:g.5783642G>A							p.L206L	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	720	-			204			Pro-rich.		E9PB31	Silent	SNP	ENST00000419421.2	37	c.616C>T	CCDS45933.1																																																																																				0.706	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		5	5	0	0	0	1	0	5	5				
ZNF724P	440519	broad.mit.edu	37	19	23405268	23405268	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:23405268T>C	ENST00000418100.1	-	4	1896	c.1779A>G	c.(1777-1779)aaA>aaG	p.K593K				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGCCACATTCTTTACATTTGT	0.368																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1777-1779)aaA>aaG																																						SO:0001819	synonymous_variant	0							g.chr19:23405268T>C			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1779A>G	19.37:g.23405268T>C							p.K593K							4	1896	-									Silent	SNP	ENST00000418100.1	37	c.1779A>G																																																																																					0.368	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			11	22	0	0	0	1	0	11	22				
SSC4D	136853	broad.mit.edu	37	7	76033640	76033640	+	Silent	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:76033640A>T	ENST00000275560.3	-	2	464	c.117T>A	c.(115-117)ctT>ctA	p.L39L	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCAGGAGGAGAAGGAAAGACA	0.567																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(115-117)ctT>ctA		scavenger receptor cysteine rich domain containing, group B (4 domains)							78.0	70.0	73.0					7																	76033640		2203	4300	6503	SO:0001819	synonymous_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033640A>T																												ENST00000275560.3:c.117T>A	7.37:g.76033640A>T						ZP3_ENST00000336517.4_Intron	p.L39L	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			2	464	-			39						Silent	SNP	ENST00000275560.3	37	c.117T>A	CCDS5585.1																																																																																				0.567	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			6	11	0	0	0	1	0	6	11				
TRIML1	339976	broad.mit.edu	37	4	189060990	189060990	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:189060990G>T	ENST00000332517.3	+	1	418	c.278G>T	c.(277-279)gGc>gTc	p.G93V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	93					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GATGAGCAGGGCAGCTACGGG	0.642																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(277-279)gGc>gTc		tripartite motif family-like 1							43.0	43.0	43.0					4																	189060990		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060990G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.278G>T	4.37:g.189060990G>T	ENSP00000327738:p.Gly93Val						p.G93V	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	418	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	93					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.278G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	7.368	0.626188	0.14257	.	.	ENSG00000184108	ENST00000332517	T	0.62364	0.03	3.86	1.17	0.20885	.	1.461380	0.04188	N	0.327709	T	0.49558	0.1564	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.13980	-1.0489	10	0.11794	T	0.64	-2.2463	3.4994	0.07668	0.2141:0.0:0.5878:0.1981	.	93	Q8N9V2	TRIML_HUMAN	V	93	ENSP00000327738:G93V	ENSP00000327738:G93V	G	+	2	0	TRIML1	189297984	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.690000	0.05138	0.218000	0.20820	-0.258000	0.10820	GGC		0.642	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		22	29	1	0	5.26018e-13	1	6.17059e-13	22	29				
TBL1XR1	79718	broad.mit.edu	37	3	176752004	176752004	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:176752004G>C	ENST00000430069.1	-	13	1491	c.1232C>G	c.(1231-1233)gCc>gGc	p.A411G	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A411G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	411					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CATAAGGTTGGCATTTGGATT	0.343																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1231-1233)gCc>gGc		transducin (beta)-like 1 X-linked receptor 1							163.0	157.0	159.0					3																	176752004		1833	4090	5923	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176752004G>C	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1232C>G	3.37:g.176752004G>C	ENSP00000405574:p.Ala411Gly					TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A411G	p.A411G			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		13	1491	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	411					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.1232C>G	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602087	0.66445	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.81499	-1.5;-1.5	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	N	0.08118	0	0.80722	D	1	B	0.26318	0.146	B	0.29176	0.099	T	0.63084	-0.6716	10	0.22706	T	0.39	-3.8036	18.5085	0.90907	0.0:0.0:1.0:0.0	.	411	Q9BZK7	TBL1R_HUMAN	G	411;411;273	ENSP00000405574:A411G;ENSP00000413251:A411G	ENSP00000405574:A411G	A	-	2	0	TBL1XR1	178234698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.604000	0.88044	0.650000	0.86243	GCC		0.343	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		12	49	0	0	0	1	0	12	49				
TLE4	7091	broad.mit.edu	37	9	82187749	82187749	+	Splice_Site	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:82187749C>A	ENST00000376552.2	+	1	1062	c.44C>A	c.(43-45)cCa>cAa	p.P15Q	TLE4_ENST00000376544.3_Splice_Site_p.P15Q|TLE4_ENST00000376520.4_Splice_Site_p.P15Q|TLE4_ENST00000376537.4_Splice_Site_p.P15Q|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Splice_Site_p.P15Q	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	15	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCAGACACCCAGTGAGTgcg	0.672																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.e1+1		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							18.0	22.0	20.0					9																	82187749		1858	4086	5944	SO:0001630	splice_region_variant	7091							g.chr9:82187749C>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.45+1C>A	9.37:g.82187749C>A						TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Splice_Site_p.P15_splice|TLE4_ENST00000376544.3_Splice_Site_p.P15_splice|TLE4_ENST00000376552.2_Splice_Site_p.P15_splice|TLE4_ENST00000265284.6_Splice_Site_p.P15_splice	p.P15_splice			O60756	BCE1_HUMAN			1	872	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Splice_Site	SNP	ENST00000376552.2	37	c.45_splice	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305416	0.40795	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284	T;T;T;T;T;T	0.49720	0.77;0.78;0.81;0.86;0.8;0.79	3.47	3.47	0.39725	Groucho/TLE, N-terminal Q-rich domain (1);	0.072190	0.56097	D	0.000032	T	0.56863	0.2014	L	0.35793	1.09	0.80722	D	1	B;D;P	0.76494	0.086;0.999;0.594	B;D;P	0.80764	0.192;0.994;0.701	T	0.58457	-0.7633	10	0.48119	T	0.1	-9.4424	13.733	0.62799	0.0:1.0:0.0:0.0	.	15;15;15	F8W6T6;Q04727-2;Q04727	.;.;TLE4_HUMAN	Q	15	ENSP00000365735:P15Q;ENSP00000365727:P15Q;ENSP00000365703:P15Q;ENSP00000415423:P15Q;ENSP00000365720:P15Q;ENSP00000265284:P15Q	ENSP00000265284:P15Q	P	+	2	0	TLE4	81377569	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.837000	0.69381	1.477000	0.48234	0.455000	0.32223	CCA		0.672	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	Missense_Mutation	3	33	1	0	1	1	1	3	33				
AFM	173	broad.mit.edu	37	4	74351580	74351580	+	Splice_Site	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:74351580A>T	ENST00000226355.3	+	4	365	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	91	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTGTATAGAATAATGTTTTA	0.368																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.e4-1		afamin							44.0	45.0	44.0					4																	74351580		2203	4300	6503	SO:0001630	splice_region_variant	173				vitamin transport		vitamin E binding	g.chr4:74351580A>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.271-1A>T	4.37:g.74351580A>T							p.N91_splice	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	365	+	Breast(15;0.00102)		91			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Splice_Site	SNP	ENST00000226355.3	37	c.270_splice	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.387403	0.01194	.	.	ENSG00000079557	ENST00000226355	T	0.72942	-0.7	4.86	1.86	0.25419	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.403835	0.24384	N	0.039000	T	0.52805	0.1757	L	0.36672	1.1	0.31852	N	0.622167	B	0.29612	0.251	B	0.29862	0.108	T	0.50189	-0.8857	10	0.12103	T	0.63	.	6.9909	0.24755	0.5448:0.0:0.0:0.4552	.	91	P43652	AFAM_HUMAN	I	91	ENSP00000226355:N91I	ENSP00000226355:N91I	N	+	2	0	AFM	74570444	0.001000	0.12720	0.841000	0.33234	0.019000	0.09904	-0.433000	0.06948	0.786000	0.33708	0.482000	0.46254	AAT		0.368	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		Missense_Mutation	17	32	0	0	0	1	0	17	32				
RIMS1	22999	broad.mit.edu	37	6	72889334	72889334	+	Silent	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:72889334G>C	ENST00000521978.1	+	5	528	c.528G>C	c.(526-528)ggG>ggC	p.G176G	RIMS1_ENST00000264839.7_Silent_p.G176G|RIMS1_ENST00000348717.5_Silent_p.G176G|RIMS1_ENST00000517960.1_Silent_p.G176G|RIMS1_ENST00000518273.1_Silent_p.G176G|RIMS1_ENST00000491071.2_Silent_p.G176G|RIMS1_ENST00000520567.1_Silent_p.G176G|RIMS1_ENST00000522291.1_Silent_p.G176G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	176	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAAATCTGGGGCATGGTTCT	0.418																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(526-528)ggG>ggC		regulating synaptic membrane exocytosis 1							44.0	46.0	46.0					6																	72889334		1911	4115	6026	SO:0001819	synonymous_variant	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889334G>C	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.528G>C	6.37:g.72889334G>C						RIMS1_ENST00000518273.1_Silent_p.G176G|RIMS1_ENST00000520567.1_Silent_p.G176G|RIMS1_ENST00000517960.1_Silent_p.G176G|RIMS1_ENST00000491071.2_Silent_p.G176G|RIMS1_ENST00000522291.1_Silent_p.G176G|RIMS1_ENST00000348717.5_Silent_p.G176G|RIMS1_ENST00000521978.1_Silent_p.G176G	p.G176G			Q86UR5	RIMS1_HUMAN			5	528	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	176			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.528G>C	CCDS47449.1																																																																																				0.418	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			5	23	0	0	0	1	0	5	23				
TMEM185A	84548	broad.mit.edu	37	X	148690439	148690439	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:148690439G>T	ENST00000316916.8	-	3	602	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TMEM185A_ENST00000507237.1_Missense_Mutation_p.L100M|TMEM185A_ENST00000536359.1_Missense_Mutation_p.L41M	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	100						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCACAGACCAGAACTTCAAAC	0.488																																						ENST00000316916.8																			0				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15						c.(298-300)Ctg>Atg		transmembrane protein 185A							174.0	157.0	163.0					X																	148690439		2202	4299	6501	SO:0001583	missense	84548					integral to membrane		g.chrX:148690439G>T	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.298C>A	X.37:g.148690439G>T	ENSP00000359449:p.Leu100Met					TMEM185A_ENST00000507237.1_Missense_Mutation_p.L100M|TMEM185A_ENST00000536359.1_Missense_Mutation_p.L41M	p.L100M	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN			3	602	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		100					B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.298C>A	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938464	0.73557	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.59649	0.2209	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.921	T	0.62039	-0.6938	10	0.72032	D	0.01	-8.2467	17.2138	0.86937	0.0:0.0:1.0:0.0	.	100;41;100	Q8NFB2;F5H5U0;E7EMM1	T185A_HUMAN;.;.	M	100;41;100;41	ENSP00000359449:L100M;ENSP00000443119:L41M;ENSP00000427766:L100M;ENSP00000428659:L41M	ENSP00000359449:L100M	L	-	1	2	TMEM185A	148498235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.254000	0.51477	2.275000	0.75901	0.513000	0.50165	CTG		0.488	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		24	132	1	0	3.7963e-18	1	4.82447e-18	24	132				
HCN1	348980	broad.mit.edu	37	5	45645301	45645301	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:45645301G>A	ENST00000303230.4	-	2	892	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	279			H -> Y (in EIEE24; results in a gain of channel function). {ECO:0000269|PubMed:24747641}.		apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCCATTGATGTATGTATCTA	0.333																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(835-837)Cat>Tat		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							36.0	37.0	37.0					5																	45645301		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645301G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.835C>T	5.37:g.45645301G>A	ENSP00000307342:p.His279Tyr						p.H279Y	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	892	-			279						Missense_Mutation	SNP	ENST00000303230.4	37	c.835C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571027	0.86542	.	.	ENSG00000164588	ENST00000303230	D	0.98362	-4.89	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000008	D	0.98757	0.9582	M	0.82517	2.595	0.80722	D	1	P	0.48089	0.905	P	0.55965	0.788	D	0.99819	1.1046	10	0.87932	D	0	.	19.403	0.94639	0.0:0.0:1.0:0.0	.	279	O60741	HCN1_HUMAN	Y	279	ENSP00000307342:H279Y	ENSP00000307342:H279Y	H	-	1	0	HCN1	45681058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.589000	0.87451	0.650000	0.86243	CAT		0.333	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	27	0	0	0	1	0	19	27				
PCDH11X	27328	broad.mit.edu	37	X	91642841	91642841	+	Silent	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:91642841C>T	ENST00000373094.1	+	5	4097	c.3252C>T	c.(3250-3252)ggC>ggT	p.G1084G	PCDH11X_ENST00000406881.1_Silent_p.G1084G|PCDH11X_ENST00000298274.8_Silent_p.G1047G|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Silent_p.G1074G|PCDH11X_ENST00000373097.1_Silent_p.G1074G|PCDH11X_ENST00000373088.1_Silent_p.G1047G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1084					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCTCATGGCCTGCCCCTTG	0.542																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3250-3252)ggC>ggT		protocadherin 11 X-linked							182.0	139.0	154.0					X																	91642841		2201	4298	6499	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91642841C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3252C>T	X.37:g.91642841C>T						PCDH11X_ENST00000373088.1_Silent_p.G1047G|PCDH11X_ENST00000406881.1_Silent_p.G1084G|PCDH11X_ENST00000298274.8_Silent_p.G1047G|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000373097.1_Silent_p.G1074G|PCDH11X_ENST00000361655.2_Silent_p.G1074G	p.G1084G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			5	4097	+			1084					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3252C>T	CCDS14461.1																																																																																				0.542	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		42	50	0	0	0	1	0	42	50				
CLTCL1	8218	broad.mit.edu	37	22	19175592	19175592	+	Silent	SNP	C	C	A	rs35864408		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:19175592C>A	ENST00000263200.10	-	28	4407	c.4335G>T	c.(4333-4335)ctG>ctT	p.L1445L	CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Silent_p.L1445L|CLTCL1_ENST00000427926.1_Silent_p.L1445L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1445	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCACCAGGGGCAGCTGACCTG	0.582			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4333-4335)ctG>ctT		clathrin, heavy chain-like 1							141.0	145.0	144.0					22																	19175592		2056	4195	6251	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19175592C>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4335G>T	22.37:g.19175592C>A						CLTCL1_ENST00000427926.1_Silent_p.L1445L|CLTCL1_ENST00000353891.5_Silent_p.L1445L|CLTCL1_ENST00000442042.2_Intron	p.L1445L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			28	4407	-	Colorectal(54;0.0993)		1445			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.4335G>T	CCDS46662.1																																																																																				0.582	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		15	111	1	0	2.62699e-14	1	3.20493e-14	15	111				
DFNA5	1687	broad.mit.edu	37	7	24784276	24784276	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:24784276C>A	ENST00000342947.3	-	3	734	c.309G>T	c.(307-309)ctG>ctT	p.L103L	DFNA5_ENST00000409775.3_Silent_p.L103L|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	103					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGCTGCCCCCCAGGTTCAGCT	0.562																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(307-309)ctG>ctT		deafness, autosomal dominant 5							86.0	78.0	81.0					7																	24784276		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24784276C>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.309G>T	7.37:g.24784276C>A						DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.L103L|DFNA5_ENST00000419307.1_5'UTR	p.L103L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			3	734	-			103					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.309G>T	CCDS5389.1																																																																																				0.562	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		25	39	1	0	1.66031e-10	1	1.84143e-10	25	39				
FAM83B	222584	broad.mit.edu	37	6	54805986	54805986	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:54805986C>A	ENST00000306858.7	+	5	2333	c.2217C>A	c.(2215-2217)tcC>tcA	p.S739S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	739										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCAGTTTCCATTGCTGCTT	0.403																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2215-2217)tcC>tcA		family with sequence similarity 83, member B							78.0	80.0	80.0					6																	54805986		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54805986C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2217C>A	6.37:g.54805986C>A							p.S739S	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2333	+	Lung NSC(77;0.0178)|Renal(3;0.122)		739					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2217C>A	CCDS34479.1																																																																																				0.403	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		5	60	1	0	3.59834e-05	1	3.85085e-05	5	60				
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A	rs368532520		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(130-132)gGc>gAc		CoA synthase		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,	2,4402		0,2,2200	37.0	47.0	44.0		131,131,218,131,	4.9	1.0	17		44	0,8592		0,0,4296	no	missense,missense,missense,missense,intron	COASY	NM_001042529.1,NM_001042530.1,NM_001042532.2,NM_025233.5,NM_001042531.1	94,94,94,94,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	44/565,44/565,73/594,44/565,	40714771	2,12994	2202	4296	6498	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714771G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.131G>A	17.37:g.40714771G>A	ENSP00000377406:p.Gly44Asp					COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron	p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	587	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	44					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.131G>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783426	0.70222	4.54E-4	0.0	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33438	1.41;1.41	5.84	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;B	0.41041	0.736;0.043	B;B	0.38500	0.275;0.024	T	0.03068	-1.1076	10	0.48119	T	0.1	-18.0729	12.532	0.56120	0.0803:0.0:0.9197:0.0	.	73;44	Q13057-2;Q13057	.;COASY_HUMAN	D	73;44;44;44	ENSP00000413338:G44D;ENSP00000377406:G44D	ENSP00000377406:G44D	G	+	2	0	COASY	37968297	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	6.902000	0.75699	1.483000	0.48342	0.561000	0.74099	GGC		0.662	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		4	100	0	0	0	1	0	4	100				
CCDC88A	55704	broad.mit.edu	37	2	55561312	55561312	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:55561312C>T	ENST00000436346.1	-	15	3486	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R882H|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R882H|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R882H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	882					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTTTCAGACGGACACAAGA	0.303																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2644-2646)cGt>cAt		coiled-coil domain containing 88A							56.0	60.0	59.0					2																	55561312		2200	4291	6491	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561312C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2645G>A	2.37:g.55561312C>T	ENSP00000410608:p.Arg882His					AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R882H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R882H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R882H	p.R882H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			15	3486	-			882					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2645G>A		.	.	.	.	.	.	.	.	.	.	C	17.79	3.474814	0.63737	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.42131	2.09;2.41;2.3;2.11;0.98	5.47	5.47	0.80525	.	0.000000	0.48286	U	0.000192	T	0.65554	0.2702	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.985;0.996;0.985;0.997;0.998	T	0.66412	-0.5930	10	0.66056	D	0.02	-8.1854	19.6975	0.96031	0.0:1.0:0.0:0.0	.	882;882;882;882;882	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	H	882;882;882;882;57	ENSP00000338728:R882H;ENSP00000263630:R882H;ENSP00000410608:R882H;ENSP00000404431:R882H;ENSP00000405080:R57H	ENSP00000263630:R882H	R	-	2	0	CCDC88A	55414816	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.620000	0.67736	2.729000	0.93468	0.557000	0.71058	CGT		0.303	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		23	46	0	0	0	1	0	23	46				
NAPSA	9476	broad.mit.edu	37	19	50861856	50861856	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:50861856G>A	ENST00000253719.2	-	9	1425	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	406					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGAGGTCCGCTCCGCGAGT	0.697																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1216-1218)gCg>gTg		napsin A aspartic peptidase							12.0	14.0	13.0					19																	50861856		2192	4289	6481	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861856G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1217C>T	19.37:g.50861856G>A	ENSP00000253719:p.Ala406Val					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.A406V	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1425	-		all_neural(266;0.057)	406					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1217C>T	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010065	0.35415	.	.	ENSG00000131400	ENST00000253719	T	0.51325	0.71	3.15	-0.716	0.11212	.	1.308820	0.05273	N	0.517905	T	0.32941	0.0846	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.23868	-1.0176	10	0.41790	T	0.15	.	2.8167	0.05458	0.3093:0.2504:0.4403:0.0	.	406	O96009	NAPSA_HUMAN	V	406	ENSP00000253719:A406V	ENSP00000253719:A406V	A	-	2	0	NAPSA	55553668	0.022000	0.18835	0.000000	0.03702	0.003000	0.03518	1.318000	0.33643	0.142000	0.18901	0.467000	0.42956	GCG		0.697	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		3	13	0	0	0	1	0	3	13				
CFAP46	54777	broad.mit.edu	37	10	134751117	134751117	+	Missense_Mutation	SNP	G	G	A	rs536559191		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr10:134751117G>A	ENST00000368586.5	-	6	699	c.599C>T	c.(598-600)aCg>aTg	p.T200M	TTC40_ENST00000368585.3_Missense_Mutation_p.T200M|TTC40_ENST00000368582.2_Missense_Mutation_p.T200M	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGAGCTGCCGTGGAGCAGAA	0.463																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(598-600)aCg>aTg		tetratricopeptide repeat domain 40							85.0	89.0	88.0					10																	134751117		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134751117G>A																												ENST00000368586.5:c.599C>T	10.37:g.134751117G>A	ENSP00000357575:p.Thr200Met					TTC40_ENST00000368582.2_Missense_Mutation_p.T200M|TTC40_ENST00000368585.3_Missense_Mutation_p.T200M	p.T200M	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			6	699	-			0						Missense_Mutation	SNP	ENST00000368586.5	37	c.599C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	4.325	0.059598	0.08339	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.83250	-1.7;-1.7;-1.7	4.74	1.63	0.23807	.	0.445941	0.19668	N	0.108822	T	0.75953	0.3920	M	0.70595	2.14	0.09310	N	1	P;D	0.53151	0.889;0.958	B;B	0.37144	0.154;0.242	T	0.69087	-0.5238	10	0.59425	D	0.04	.	6.923	0.24399	0.1691:0.2377:0.5933:0.0	.	200;200	Q5SR76-2;Q5SR76-1	.;.	M	200	ENSP00000357575:T200M;ENSP00000357571:T200M;ENSP00000357574:T200M	ENSP00000357571:T200M	T	-	2	0	C10orf93	134601107	0.003000	0.15002	0.001000	0.08648	0.055000	0.15305	0.263000	0.18478	0.524000	0.28502	0.650000	0.86243	ACG		0.463	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			35	71	0	0	0	1	0	35	71				
ABCA5	23461	broad.mit.edu	37	17	67249984	67249984	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:67249984T>C	ENST00000392676.3	-	33	4335	c.4271A>G	c.(4270-4272)gAa>gGa	p.E1424G	ABCA5_ENST00000392677.2_Missense_Mutation_p.E1425G|ABCA5_ENST00000588877.1_Missense_Mutation_p.E1424G			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1424	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTGAAGATGTTCTTTTAAATC	0.318																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(4270-4272)gAa>gGa		ATP-binding cassette, sub-family A (ABC1), member 5							118.0	120.0	119.0					17																	67249984		2202	4299	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67249984T>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4271A>G	17.37:g.67249984T>C	ENSP00000376443:p.Glu1424Gly					ABCA5_ENST00000588877.1_Missense_Mutation_p.E1424G|ABCA5_ENST00000392677.2_Missense_Mutation_p.E1425G	p.E1424G			Q8WWZ7	ABCA5_HUMAN			33	4335	-	Breast(10;3.72e-11)		1424			ABC transporter 2.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.4271A>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905260	0.92035	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93906	-3.31;-3.31	5.75	5.75	0.90469	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.085400	0.50627	D	0.000115	D	0.94308	0.8171	L	0.50919	1.6	0.52099	D	0.999949	P	0.52170	0.951	P	0.56398	0.797	D	0.93586	0.6917	10	0.37606	T	0.19	.	16.0634	0.80856	0.0:0.0:0.0:1.0	.	1424	Q8WWZ7	ABCA5_HUMAN	G	1425;1424	ENSP00000376444:E1425G;ENSP00000376443:E1424G	ENSP00000376443:E1424G	E	-	2	0	ABCA5	64761579	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.522000	0.67092	2.202000	0.70862	0.528000	0.53228	GAA		0.318	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		38	84	0	0	0	1	0	38	84				
ZBED4	9889	broad.mit.edu	37	22	50278743	50278743	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:50278743G>A	ENST00000216268.5	+	2	1910	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	478						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGAGTGTCGGTACTGCGGC	0.582																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1432-1434)cGg>cAg		zinc finger, BED-type containing 4							84.0	90.0	88.0					22																	50278743		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278743G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1433G>A	22.37:g.50278743G>A	ENSP00000216268:p.Arg478Gln						p.R478Q	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1910	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	478					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1433G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520988	0.27211	.	.	ENSG00000100426	ENST00000216268	T	0.48522	0.81	5.32	3.23	0.37069	Zinc finger, BED-type predicted (3);	0.121069	0.53938	D	0.000058	T	0.42585	0.1209	L	0.41236	1.265	0.37689	D	0.92378	D	0.64830	0.994	P	0.50490	0.642	T	0.41592	-0.9500	10	0.40728	T	0.16	-13.1719	6.3354	0.21292	0.1509:0.0:0.6994:0.1497	.	478	O75132	ZBED4_HUMAN	Q	478	ENSP00000216268:R478Q	ENSP00000216268:R478Q	R	+	2	0	ZBED4	48664747	0.988000	0.35896	0.282000	0.24776	0.044000	0.14063	5.099000	0.64554	0.807000	0.34208	0.655000	0.94253	CGG		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	120	0	0	0	1	0	4	120				
TRANK1	9881	broad.mit.edu	37	3	36879945	36879945	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:36879945T>C	ENST00000429976.2	-	19	5550	c.5303A>G	c.(5302-5304)aAa>aGa	p.K1768R	TRANK1_ENST00000301807.6_Missense_Mutation_p.K1218R|TRANK1_ENST00000428977.2_Missense_Mutation_p.K1218R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1768							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTTGGCTCTTTGCACTCCAA	0.483																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3652-3654)aAa>aGa		tetratricopeptide repeat and ankyrin repeat containing 1							119.0	118.0	119.0					3																	36879945		1942	4137	6079	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36879945T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5303A>G	3.37:g.36879945T>C	ENSP00000416168:p.Lys1768Arg					TRANK1_ENST00000428977.2_Missense_Mutation_p.K1218R|TRANK1_ENST00000429976.2_Missense_Mutation_p.K1768R	p.K1218R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			19	5550	-			1768					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3653A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254758	0.22965	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.31247	1.5;1.91;1.5	5.08	-1.29	0.09288	Tetratricopeptide-like helical (1);	1.249660	0.05632	N	0.581887	T	0.20700	0.0498	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30707	-0.9969	10	0.30854	T	0.27	.	11.0378	0.47811	0.0:0.6763:0.0:0.3237	.	1768	O15050	TRNK1_HUMAN	R	1218;1768;1218	ENSP00000416826:K1218R;ENSP00000416168:K1768R;ENSP00000301807:K1218R	ENSP00000301807:K1218R	K	-	2	0	TRANK1	36854949	0.462000	0.25791	0.073000	0.20177	0.427000	0.31564	0.749000	0.26320	-0.112000	0.11979	-0.290000	0.09829	AAA		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		24	32	0	0	0	1	0	24	32				
OR10H5	284433	broad.mit.edu	37	19	15905375	15905375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:15905375G>T	ENST00000308940.8	+	1	615	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGGACACAAGGAGATCCACCA	0.602																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(517-519)Gag>Tag		olfactory receptor, family 10, subfamily H, member 5							157.0	127.0	137.0					19																	15905375		2203	4300	6503	SO:0001587	stop_gained	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905375G>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.517G>T	19.37:g.15905375G>T	ENSP00000310704:p.Glu173*						p.E173*	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	615	+			173					Q6IFJ0|Q96R60	Nonsense_Mutation	SNP	ENST00000308940.8	37	c.517G>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.730757	0.30684	.	.	ENSG00000172519	ENST00000308940	.	.	.	3.36	1.1	0.20463	.	0.771763	0.11250	N	0.583751	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	2.9786	0.05946	0.2425:0.2592:0.4983:0.0	.	.	.	.	X	173	.	ENSP00000310704:E173X	E	+	1	0	OR10H5	15766375	0.000000	0.05858	0.026000	0.17262	0.068000	0.16541	-1.166000	0.03129	0.693000	0.31634	0.585000	0.79938	GAG		0.602	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			18	78	1	0	5.35267e-07	1	5.83058e-07	18	78				
VIT	5212	broad.mit.edu	37	2	37035830	37035830	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:37035830C>G	ENST00000389975.3	+	14	1862	c.1560C>G	c.(1558-1560)aaC>aaG	p.N520K	VIT_ENST00000401530.1_Missense_Mutation_p.N499K|VIT_ENST00000379242.3_Missense_Mutation_p.N535K|VIT_ENST00000404084.1_Missense_Mutation_p.N472K|VIT_ENST00000497382.1_Missense_Mutation_p.N189K|VIT_ENST00000379241.3_Missense_Mutation_p.N498K	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	520	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTGTGACCAACCTCACCAAAG	0.577																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1603-1605)aaC>aaG		vitrin							78.0	76.0	77.0					2																	37035830		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035830C>G	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1560C>G	2.37:g.37035830C>G	ENSP00000374625:p.Asn520Lys					VIT_ENST00000389975.3_Missense_Mutation_p.N520K|VIT_ENST00000401530.1_Missense_Mutation_p.N499K|VIT_ENST00000497382.1_Missense_Mutation_p.N189K|VIT_ENST00000404084.1_Missense_Mutation_p.N472K|VIT_ENST00000379241.3_Missense_Mutation_p.N498K	p.N535K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1907	+		all_hematologic(82;0.248)	520			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1605C>G	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650889	0.47362	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	N	0.21545	0.675	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.82110	-0.0619	10	0.40728	T	0.16	-33.3826	10.0973	0.42482	0.0:0.8474:0.0:0.1526	.	499;498;520;535	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	K	535;520;189;472;498;499	ENSP00000368544:N535K;ENSP00000374625:N520K;ENSP00000417874:N189K;ENSP00000384154:N472K;ENSP00000368543:N498K;ENSP00000385658:N499K	ENSP00000368543:N498K	N	+	3	2	VIT	36889334	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	4.049000	0.57397	1.225000	0.43566	0.557000	0.71058	AAC		0.577	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				27	62	0	0	0	1	0	27	62				
CSMD3	114788	broad.mit.edu	37	8	114031311	114031311	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr8:114031311T>C	ENST00000297405.5	-	6	1259	c.1015A>G	c.(1015-1017)Agt>Ggt	p.S339G	CSMD3_ENST00000455883.2_Missense_Mutation_p.S339G|CSMD3_ENST00000343508.3_Missense_Mutation_p.S299G|CSMD3_ENST00000352409.3_Missense_Mutation_p.S339G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	339	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGGGAGCACTAAATCCACGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1015-1017)Agt>Ggt		CUB and Sushi multiple domains 3							202.0	179.0	187.0					8																	114031311		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114031311T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1015A>G	8.37:g.114031311T>C	ENSP00000297405:p.Ser339Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.S339G|CSMD3_ENST00000343508.3_Missense_Mutation_p.S299G|CSMD3_ENST00000455883.2_Missense_Mutation_p.S339G	p.S339G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			6	1259	-			339			CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1015A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643167	0.29246	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.42	5.42	0.78866	CUB (5);	0.195545	0.43416	D	0.000575	D	0.96309	0.8796	M	0.88377	2.95	0.33357	D	0.571822	B;B;P;P	0.49635	0.028;0.073;0.904;0.926	B;B;P;P	0.58454	0.021;0.055;0.601;0.839	D	0.98218	1.0476	10	0.22706	T	0.39	.	15.5149	0.75815	0.0:0.0:0.0:1.0	.	339;339;339;299	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	G	299;339;339;339	ENSP00000345799:S299G;ENSP00000297405:S339G;ENSP00000412263:S339G;ENSP00000343124:S339G	ENSP00000297405:S339G	S	-	1	0	CSMD3	114100487	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.691000	0.84191	2.059000	0.61396	0.373000	0.22412	AGT		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	110	0	0	0	1	0	6	110				
MEI1	150365	broad.mit.edu	37	22	42114206	42114206	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:42114206G>A	ENST00000401548.3	+	6	701	c.661G>A	c.(661-663)Gag>Aag	p.E221K	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACACTTCCGTGAGAAGCTTTT	0.493																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(661-663)Gag>Aag		meiosis inhibitor 1							78.0	74.0	75.0					22																	42114206		1919	4133	6052	SO:0001583	missense	150365						binding	g.chr22:42114206G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.661G>A	22.37:g.42114206G>A	ENSP00000384115:p.Glu221Lys					MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.E221K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			6	701	+			221						Missense_Mutation	SNP	ENST00000401548.3	37	c.661G>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314274	0.95655	.	.	ENSG00000167077	ENST00000401548	T	0.17691	2.26	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.071689	0.64402	D	0.000017	T	0.41073	0.1143	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.68353	0.794;0.957	T	0.03068	-1.1076	10	0.56958	D	0.05	-6.1097	20.3409	0.98764	0.0:0.0:1.0:0.0	.	221;221	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	K	221	ENSP00000384115:E221K	ENSP00000384115:E221K	E	+	1	0	MEI1	40444152	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.717000	0.74707	2.814000	0.96858	0.655000	0.94253	GAG		0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		9	27	0	0	0	1	0	9	27				
CAPN13	92291	broad.mit.edu	37	2	31010026	31010026	+	Missense_Mutation	SNP	G	G	A	rs370459102		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:31010026G>A	ENST00000295055.8	-	2	342	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R56C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	56	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTGGAGAGGCGTTTTTCCTGG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18376	0.0		0.001	False		,,,				2504	0.0					ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(166-168)Cgc>Tgc		calpain 13		G	CYS/ARG	1,3915		0,1,1957	35.0	38.0	37.0		166	-7.1	0.0	2		37	0,8304		0,0,4152	no	missense	CAPN13	NM_144575.2	180	0,1,6109	AA,AG,GG		0.0,0.0255,0.0082	possibly-damaging	56/670	31010026	1,12219	1958	4152	6110	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:31010026G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.166C>T	2.37:g.31010026G>A	ENSP00000295055:p.Arg56Cys					CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R56C	p.R56C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			2	342	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		56			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.166C>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126586	0.56721	2.55E-4	0.0	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.16457	2.34;2.34	5.77	-7.12	0.01537	Peptidase C2, calpain, catalytic domain (3);	2.259690	0.02158	N	0.058570	T	0.22282	0.0537	L	0.55213	1.73	0.09310	N	1	D	0.63046	0.992	P	0.54174	0.744	T	0.47711	-0.9096	10	0.48119	T	0.1	.	3.3865	0.07273	0.1006:0.231:0.4367:0.2316	.	56	Q6MZZ7	CAN13_HUMAN	C	56	ENSP00000295055:R56C;ENSP00000431298:R56C	ENSP00000295055:R56C	R	-	1	0	CAPN13	30863530	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.348000	0.02629	-1.374000	0.02131	-1.990000	0.00449	CGC		0.587	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		5	8	0	0	0	1	0	5	8				
HBG2	3048	broad.mit.edu	37	11	5274542	5274542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274542C>A	ENST00000380259.2	-	8	1649	c.409G>T	c.(409-411)Gga>Tga	p.G137*	HBG2_ENST00000336906.4_Nonsense_Mutation_p.G137*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.G127*			P69892	HBG2_HUMAN	hemoglobin, gamma G	137					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCACTCCAGTCACCATC	0.498																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(409-411)Gga>Tga		hemoglobin, gamma G							102.0	90.0	94.0					11																	5274542		2201	4298	6499	SO:0001587	stop_gained	3048							g.chr11:5274542C>A	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.409G>T	11.37:g.5274542C>A	ENSP00000369609:p.Gly137*					HBG2_ENST00000336906.4_Nonsense_Mutation_p.G137*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.G127*	p.G137*						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	1649	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Nonsense_Mutation	SNP	ENST00000380259.2	37	c.409G>T	CCDS7755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.697668|3.697668	0.68386|0.68386	.|.	.|.	ENSG00000196565|ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906|ENST00000380247	.|.	.|.	.|.	3.72|3.72	2.79|2.79	0.32731|0.32731	.|.	.|0.193132	.|0.20213	.|U	.|0.096859	.|T	.|0.63153	.|0.2487	.|.	.|.	.|.	0.51767|0.51767	D|D	0.999937|0.999937	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63954	.|-0.6520	.|6	0.72032|0.87932	D|D	0.01|0	.|.	7.3962|7.3962	0.26938|0.26938	0.0:0.8769:0.0:0.1231|0.0:0.8769:0.0:0.1231	.|.	.|.	.|.	.|.	X|L	127;137;137|136	.|.	ENSP00000338082:G137X|ENSP00000369597:W136L	G|W	-|-	1|2	0|0	HBG2|HBG2	5231118|5231118	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.224000|0.224000	0.24922|0.24922	1.365000|1.365000	0.34182|0.34182	0.872000|0.872000	0.35775|0.35775	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		19	33	1	0	2.89027e-11	1	3.26493e-11	19	33				
GPR37	2861	broad.mit.edu	37	7	124387196	124387196	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:124387196C>T	ENST00000303921.2	-	2	1875	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	409					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTAAACCCCAAATCCTCC	0.493																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1225-1227)Ggg>Agg		G protein-coupled receptor 37 (endothelin receptor type B-like)							129.0	124.0	126.0					7																	124387196		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387196C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1225G>A	7.37:g.124387196C>T	ENSP00000306449:p.Gly409Arg						p.G409R	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	1875	-			409					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1225G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605780	0.46527	.	.	ENSG00000170775	ENST00000303921	T	0.71341	-0.56	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.59500	0.2198	N	0.22421	0.69	0.58432	D	0.99999	B	0.33777	0.425	B	0.33568	0.166	T	0.56007	-0.8050	10	0.21014	T	0.42	-26.7365	18.8047	0.92032	0.0:1.0:0.0:0.0	.	409	O15354	GPR37_HUMAN	R	409	ENSP00000306449:G409R	ENSP00000306449:G409R	G	-	1	0	GPR37	124174432	0.187000	0.23238	0.987000	0.45799	0.605000	0.37080	3.350000	0.52224	2.683000	0.91414	0.655000	0.94253	GGG		0.493	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		5	78	0	0	0	1	0	5	78				
TONSL	4796	broad.mit.edu	37	8	145665836	145665836	+	Silent	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr8:145665836A>T	ENST00000409379.3	-	10	1217	c.1188T>A	c.(1186-1188)atT>atA	p.I396I	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	396					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGACAGTGCAATGTTCAGCC	0.687																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1186-1188)atT>atA		tonsoku-like, DNA repair protein							38.0	42.0	41.0					8																	145665836		2201	4299	6500	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145665836A>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1188T>A	8.37:g.145665836A>T							p.I396I	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			10	1217	-			396					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.1188T>A	CCDS34968.2																																																																																				0.687	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		20	28	0	0	0	1	0	20	28				
FASTK	10922	broad.mit.edu	37	7	150775729	150775729	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:150775729G>A	ENST00000297532.6	-	4	822	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R222W|FASTK_ENST00000353841.2_Missense_Mutation_p.R108W|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	249					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACCGGTGCCGGGCCAGGTGC	0.647																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(745-747)Cgg>Tgg		Fas-activated serine/threonine kinase							36.0	37.0	37.0					7																	150775729		2203	4300	6503	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775729G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.745C>T	7.37:g.150775729G>A	ENSP00000297532:p.Arg249Trp					FASTK_ENST00000353841.2_Missense_Mutation_p.R108W|FASTK_ENST00000482571.1_Missense_Mutation_p.R222W|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_5'UTR	p.R249W	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	4	822	-			249					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.745C>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103329	0.56183	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.35421	1.73;1.7;1.31	4.75	2.86	0.33363	.	0.000000	0.64402	D	0.000012	T	0.42337	0.1198	N	0.19112	0.55	0.80722	D	1	P;D;D	0.89917	0.471;1.0;1.0	B;D;D	0.87578	0.065;0.998;0.998	T	0.37934	-0.9684	10	0.87932	D	0	.	11.3764	0.49730	0.0:0.0:0.6705:0.3295	.	222;108;249	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	W	249;249;108;249;222	ENSP00000324817:R108W;ENSP00000297532:R249W;ENSP00000418516:R222W	ENSP00000297530:R249W	R	-	1	2	FASTK	150406662	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	3.126000	0.50477	0.629000	0.30376	0.655000	0.94253	CGG		0.647	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		10	24	0	0	0	1	0	10	24				
NUP188	23511	broad.mit.edu	37	9	131741572	131741572	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:131741572C>T	ENST00000372577.2	+	13	1256	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	412					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAAGTATTGGCCGACCCTTCT	0.388																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1234-1236)gCc>gTc		nucleoporin 188kDa							122.0	106.0	112.0					9																	131741572		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131741572C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1235C>T	9.37:g.131741572C>T	ENSP00000361658:p.Ala412Val						p.A412V	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			13	1256	+			412					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1235C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440886	0.43326	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65364	-0.15	5.11	4.2	0.49525	.	0.229124	0.44688	D	0.000438	T	0.48589	0.1508	N	0.19112	0.55	0.39639	D	0.970299	B	0.16396	0.017	B	0.25614	0.062	T	0.41822	-0.9487	10	0.28530	T	0.3	-11.8327	14.9447	0.71020	0.0:0.8563:0.1437:0.0	.	412	Q5SRE5	NU188_HUMAN	V	301;412	ENSP00000361658:A412V	ENSP00000349125:A301V	A	+	2	0	NUP188	130781393	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.850000	0.62889	1.251000	0.43983	0.563000	0.77884	GCC		0.388	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	190	0	0	0	1	0	4	190				
COL5A1	1289	broad.mit.edu	37	9	137712051	137712051	+	Silent	SNP	C	C	T	rs367711669		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:137712051C>T	ENST00000371817.3	+	58	4950	c.4536C>T	c.(4534-4536)tcC>tcT	p.S1512S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1512	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCTCCTCCGGTCCTAAGG	0.632																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4534-4536)tcC>tcT		collagen, type V, alpha 1		C		1,4405	2.1+/-5.4	0,1,2202	74.0	69.0	71.0		4536	-9.4	0.0	9		71	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1512/1839	137712051	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137712051C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4536C>T	9.37:g.137712051C>T							p.S1512S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	58	4950	+		Myeloproliferative disorder(178;0.0341)	1512			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4536C>T	CCDS6982.1																																																																																				0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		17	36	0	0	0	1	0	17	36				
ROS1	6098	broad.mit.edu	37	6	117642501	117642501	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:117642501T>C	ENST00000368508.3	-	35	5896	c.5698A>G	c.(5698-5700)Ata>Gta	p.I1900V	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.I1894V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1900					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTTCGTTTATAAGCACTGTC	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5698-5700)Ata>Gta		c-ros oncogene 1 , receptor tyrosine kinase							179.0	168.0	172.0					6																	117642501		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117642501T>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5698A>G	6.37:g.117642501T>C	ENSP00000357494:p.Ile1900Val					ROS1_ENST00000368507.3_Missense_Mutation_p.I1894V|GOPC_ENST00000467125.1_5'UTR	p.I1900V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	35	5896	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1900					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5698A>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	0.892	-0.725187	0.03158	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70045	-0.45;-0.45	5.16	-0.0157	0.13975	.	0.612835	0.15480	N	0.260175	T	0.11836	0.0288	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.35943	-0.9768	10	0.05721	T	0.95	.	4.7546	0.13077	0.1319:0.2198:0.0:0.6483	.	1900	P08922	ROS1_HUMAN	V	1900;1894	ENSP00000357494:I1900V;ENSP00000357493:I1894V	ENSP00000357493:I1894V	I	-	1	0	ROS1	117749194	0.000000	0.05858	0.088000	0.20740	0.031000	0.12232	-0.558000	0.05978	0.054000	0.16065	-0.991000	0.02546	ATA		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			31	153	0	0	0	1	0	31	153				
HBG2	3048	broad.mit.edu	37	11	5274540	5274540	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274540T>C	ENST00000380259.2	-	8	1651	c.411A>G	c.(409-411)ggA>ggG	p.G137G	HBG2_ENST00000336906.4_Silent_p.G137G|HBG2_ENST00000380252.1_Silent_p.G127G			P69892	HBG2_HUMAN	hemoglobin, gamma G	137					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGGCCACTCCAGTCACCA	0.498																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(409-411)ggA>ggG		hemoglobin, gamma G							101.0	90.0	94.0					11																	5274540		2201	4298	6499	SO:0001819	synonymous_variant	3048							g.chr11:5274540T>C	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.411A>G	11.37:g.5274540T>C						HBG2_ENST00000336906.4_Silent_p.G137G|HBG2_ENST00000380252.1_Silent_p.G127G	p.G137G						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	1651	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Silent	SNP	ENST00000380259.2	37	c.411A>G	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	T	7.657	0.684044	0.14907	.	.	ENSG00000196565	ENST00000380247	.	.	.	3.81	-7.63	0.01290	.	1.066700	0.07479	U	0.903470	T	0.17619	0.0423	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17868	-1.0355	5	.	.	.	.	3.6466	0.08187	0.6246:0.0856:0.1005:0.1893	.	.	.	.	G	137	.	.	S	-	1	0	HBG2	5231116	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-2.436000	0.01019	-2.189000	0.00758	-0.468000	0.05107	AGT		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		19	34	0	0	0	1	0	19	34				
SPATA31D1	389763	broad.mit.edu	37	9	84607105	84607105	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:84607105C>T	ENST00000344803.2	+	4	1767	c.1720C>T	c.(1720-1722)Cat>Tat	p.H574Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	574					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGTCCCCACATCTCACTCA	0.532																																						ENST00000344803.2																			0											c.(1720-1722)Cat>Tat		SPATA31 subfamily D, member 1							127.0	119.0	122.0					9																	84607105		1924	4141	6065	SO:0001583	missense	389763							g.chr9:84607105C>T		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.1720C>T	9.37:g.84607105C>T	ENSP00000341988:p.His574Tyr						p.H574Y	NM_001001670.2	NP_001001670.1					4	1767	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1720C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.682	-0.797771	0.02862	.	.	ENSG00000214929	ENST00000344803	T	0.06608	3.28	4.06	-0.431	0.12295	.	2.143200	0.01872	N	0.037312	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.22480	0.07	B	0.33196	0.159	T	0.40701	-0.9549	10	0.49607	T	0.09	0.0125	3.0717	0.06233	0.1885:0.4514:0.0:0.3601	.	574	Q6ZQQ2	F75D1_HUMAN	Y	574	ENSP00000341988:H574Y	ENSP00000341988:H574Y	H	+	1	0	FAM75D1	83796925	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.130000	0.10498	-0.173000	0.10761	-0.466000	0.05196	CAT		0.532	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	81	0	0	0	1	0	4	81				
UBE2NL	389898	broad.mit.edu	37	X	142967238	142967238	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:142967238C>A	ENST00000370494.1	+	1	66	c.36C>A	c.(34-36)acC>acA	p.T12T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	12						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.T12T(1)|p.Q13K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGAAACCCAGCGTTTGC	0.468																																						ENST00000370494.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.T12T(1)|p.Q13K(1)	lung(2)	breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(34-36)acC>acA		ubiquitin-conjugating enzyme E2N-like							64.0	64.0	64.0					X																	142967238		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967238C>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.36C>A	X.37:g.142967238C>A							p.T12T	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	66	+	Acute lymphoblastic leukemia(192;6.56e-05)		12					E9KL27	Silent	SNP	ENST00000370494.1	37	c.36C>A	CCDS35420.1																																																																																				0.468	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		34	53	1	0	5.8336e-16	1	7.26224e-16	34	53				
PLCB2	5330	broad.mit.edu	37	15	40594679	40594679	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:40594679G>A	ENST00000260402.3	-	4	612	c.363C>T	c.(361-363)aaC>aaT	p.N121N	PLCB2_ENST00000557821.1_Silent_p.N121N|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000456256.2_Silent_p.N121N|PLCB2_ENST00000543785.2_Silent_p.N121N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	121					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTTGCCCACGTTCTCCTTGT	0.612																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(361-363)aaC>aaT		phospholipase C, beta 2							50.0	52.0	51.0					15																	40594679		1997	4174	6171	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594679G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.363C>T	15.37:g.40594679G>A						PLCB2_ENST00000557821.1_Silent_p.N121N|PLCB2_ENST00000543785.2_Silent_p.N121N|PLCB2_ENST00000456256.2_Silent_p.N121N	p.N121N	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	4	612	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	121					A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.363C>T	CCDS42020.1																																																																																				0.612	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			28	13	0	0	0	1	0	28	13				
PNPLA6	10908	broad.mit.edu	37	19	7614924	7614924	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:7614924C>A	ENST00000221249.6	+	17	2054	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.G515G|PNPLA6_ENST00000414982.3_Silent_p.G589G|PNPLA6_ENST00000600737.1_Silent_p.G580G|PNPLA6_ENST00000450331.3_Silent_p.G541G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	580					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCACTGGCGAACCTCTCA	0.612																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1621-1623)ggC>ggA		patatin-like phospholipase domain containing 6							116.0	103.0	107.0					19																	7614924		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7614924C>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1623C>A	19.37:g.7614924C>A						PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.G589G|PNPLA6_ENST00000450331.3_Silent_p.G541G|PNPLA6_ENST00000600737.1_Silent_p.G580G|PNPLA6_ENST00000545201.2_Silent_p.G515G	p.G541G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			17	2054	+			580					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.1623C>A	CCDS32891.1																																																																																				0.612	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		13	76	1	0	0.000151284	1	0.00015911	13	76				
ZNF488	118738	broad.mit.edu	37	10	48371440	48371440	+	Missense_Mutation	SNP	C	C	T	rs78202445		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr10:48371440C>T	ENST00000395702.2	+	2	1135	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ZNF488_ENST00000586537.1_Missense_Mutation_p.A196V|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	303					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AAGGAGCATGCGGGGCCTGAC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18527	0.0		0.0	False		,,,				2504	0.0					ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(907-909)gCg>gTg		zinc finger protein 488		C	VAL/ALA	0,4406		0,0,2203	102.0	98.0	99.0		908	-4.4	0.0	10	dbSNP_131	99	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF488	NM_153034.2	64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	303/341	48371440	3,13003	2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371440C>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.908C>T	10.37:g.48371440C>T	ENSP00000379054:p.Ala303Val					ZNF488_ENST00000586537.1_Missense_Mutation_p.A196V|ZNF488_ENST00000494156.1_3'UTR	p.A303V			Q96MN9	ZN488_HUMAN			2	1135	+			303					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.908C>T	CCDS7217.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.82	2.051320	0.36181	0.0	3.49E-4	ENSG00000165388	ENST00000395702	T	0.25414	1.8	5.27	-4.45	0.03546	Zinc finger, C2H2 (1);	0.372337	0.27797	N	0.017816	T	0.11793	0.0287	N	0.25992	0.78	0.09310	N	1	B	0.33379	0.41	B	0.29077	0.098	T	0.08513	-1.0718	10	0.39692	T	0.17	.	6.8822	0.24179	0.1078:0.4313:0.0:0.4609	.	303	Q96MN9	ZN488_HUMAN	V	303	ENSP00000379054:A303V	ENSP00000379054:A303V	A	+	2	0	ZNF488	47991446	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.378000	0.20569	-1.230000	0.02561	0.655000	0.94253	GCG		0.602	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		12	81	0	0	0	1	0	12	81				
AHCTF1	25909	broad.mit.edu	37	1	247013610	247013610	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:247013610T>C	ENST00000391829.2	-	33	5821	c.5698A>G	c.(5698-5700)Agc>Ggc	p.S1900G	AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1935G|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1909G|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1900	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTCTGCTAGGACTTGTT	0.318																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5803-5805)Agc>Ggc		AT hook containing transcription factor 1							74.0	77.0	76.0					1																	247013610		2202	4300	6502	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013610T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5698A>G	1.37:g.247013610T>C	ENSP00000375705:p.Ser1900Gly					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1909G|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1900G	p.S1935G			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5939	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1900			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5803A>G		.	.	.	.	.	.	.	.	.	.	T	0.021	-1.421668	0.01126	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34667	1.35;1.35;1.35	5.81	-2.51	0.06365	.	0.598092	0.18236	N	0.147418	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.11329	0.006;0.003;0.001	T	0.23868	-1.0176	10	0.20046	T	0.44	0.1163	7.4005	0.26960	0.0:0.3771:0.1198:0.5031	.	761;1935;1900	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	G	1935;1909;1900	ENSP00000355464:S1935G;ENSP00000355465:S1909G;ENSP00000375705:S1900G	ENSP00000355465:S1909G	S	-	1	0	AHCTF1	245080233	0.673000	0.27539	0.046000	0.18839	0.012000	0.07955	0.186000	0.16978	-0.338000	0.08413	-0.291000	0.09656	AGC		0.318	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		47	21	0	0	0	1	0	47	21				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	79	0	0	0	1	0	31	79				
PAM	5066	broad.mit.edu	37	5	102295742	102295742	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:102295742A>C	ENST00000438793.3	+	12	1539	c.1069A>C	c.(1069-1071)Atg>Ctg	p.M357L	PAM_ENST00000348126.2_Missense_Mutation_p.M357L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.M260L|PAM_ENST00000304400.7_Missense_Mutation_p.M357L|PAM_ENST00000346918.2_Missense_Mutation_p.M357L|PAM_ENST00000455264.2_Missense_Mutation_p.M357L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	357	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGATATGGTTATGATGCATGA	0.313																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1069-1071)Atg>Ctg		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						108.0	101.0	104.0					5																	102295742		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102295742A>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1069A>C	5.37:g.102295742A>C	ENSP00000396493:p.Met357Leu					PAM_ENST00000304400.7_Missense_Mutation_p.M357L|PAM_ENST00000348126.2_Missense_Mutation_p.M357L|PAM_ENST00000455264.2_Missense_Mutation_p.M357L|PAM_ENST00000346918.2_Missense_Mutation_p.M357L|PAM_ENST00000274392.9_Missense_Mutation_p.M260L|PAM_ENST00000379787.4_5'UTR	p.M357L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	12	1539	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	357			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.1069A>C	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.133546|4.133546	0.77662|0.77662	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T;T|.	0.60171|.	1.1;0.95;0.99;1.1;0.21;0.96|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.093442|.	0.64402|.	D|.	0.000001|.	T|T	0.72763|0.72763	0.3501|0.3501	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;D;B;B;D;B;B|.	0.61080|.	0.853;0.97;0.113;0.181;0.989;0.181;0.114|.	P;P;B;B;D;B;B|.	0.66084|.	0.677;0.781;0.118;0.234;0.941;0.234;0.023|.	T|T	0.72301|0.72301	-0.4334|-0.4334	10|5	0.31617|.	T|.	0.26|.	.|.	15.7564|15.7564	0.78030|0.78030	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	260;19;357;357;357;357;357|.	F8WE90;Q13749;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.;.;.|.	L|S	357;357;357;357;260;357|129	ENSP00000396493:M357L;ENSP00000282992:M357L;ENSP00000314638:M357L;ENSP00000306100:M357L;ENSP00000274392:M260L;ENSP00000403461:M357L|.	ENSP00000274392:M260L|.	M|Y	+|+	1|2	0|0	PAM|PAM	102323641|102323641	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.964000|0.964000	0.63967|0.63967	6.803000|6.803000	0.75180|0.75180	2.130000|2.130000	0.65690|0.65690	0.377000|0.377000	0.23210|0.23210	ATG|TAT		0.313	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		36	37	0	0	0	1	0	36	37				
MAOA	4128	broad.mit.edu	37	X	43590513	43590513	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:43590513G>C	ENST00000338702.3	+	7	794	c.671G>C	c.(670-672)gGt>gCt	p.G224A	MAOA_ENST00000542639.1_Missense_Mutation_p.G91A|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	224					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GGTGGATCTGGTCAAGTGAGC	0.468																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(670-672)gGt>gCt		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						135.0	102.0	113.0					X																	43590513		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43590513G>C		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.671G>C	X.37:g.43590513G>C	ENSP00000340684:p.Gly224Ala					MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_Missense_Mutation_p.G91A	p.G224A	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			7	794	+			224					B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.671G>C	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.251147	0.80135	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92048	-2.96;-2.96	5.76	5.76	0.90799	Amine oxidase (1);	0.191033	0.56097	D	0.000021	D	0.91543	0.7329	L	0.58302	1.8	0.51767	D	0.999935	D	0.54772	0.968	P	0.46172	0.506	D	0.89462	0.3737	10	0.17832	T	0.49	.	18.9682	0.92704	0.0:0.0:1.0:0.0	.	224	P21397	AOFA_HUMAN	A	224;91	ENSP00000340684:G224A;ENSP00000440846:G91A	ENSP00000340684:G224A	G	+	2	0	MAOA	43475457	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.081000	0.64444	2.428000	0.82296	0.597000	0.82753	GGT		0.468	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		25	42	0	0	0	1	0	25	42				
LMBRD1	55788	broad.mit.edu	37	6	70500318	70500318	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:70500318C>T	ENST00000370577.3	-	2	345	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	LMBRD1_ENST00000370570.1_5'UTR	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	39					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTCCCGCCGACTTTGGTA	0.368																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(115-117)cGg>cAg		LMBR1 domain containing 1							113.0	120.0	118.0					6																	70500318		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70500318C>T	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.116G>A	6.37:g.70500318C>T	ENSP00000359609:p.Arg39Gln					LMBRD1_ENST00000370570.1_5'UTR	p.R39Q	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			2	345	-			39					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.116G>A	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389847	0.42410	.	.	ENSG00000168216	ENST00000370577	T	0.18174	2.23	5.93	2.16	0.27623	LMBR1-like membrane protein (1);	0.274772	0.39985	N	0.001206	T	0.06005	0.0156	M	0.64997	1.995	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.13953	-1.0490	10	0.15952	T	0.53	-0.0257	7.682	0.28520	0.0:0.3502:0.0:0.6498	.	39	Q9NUN5	LMBD1_HUMAN	Q	39	ENSP00000359609:R39Q	ENSP00000359609:R39Q	R	-	2	0	LMBRD1	70557039	0.990000	0.36364	0.995000	0.50966	0.996000	0.88848	2.407000	0.44565	0.499000	0.27970	-0.290000	0.09829	CGG		0.368	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		39	46	0	0	0	1	0	39	46				
SPAG17	200162	broad.mit.edu	37	1	118558791	118558792	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:118558791_118558792delTT	ENST00000336338.5	-	29	4148_4149	c.4083_4084delAA	c.(4081-4086)aaaagtfs	p.S1362fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1362						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGACTGACTTTTGTGACTTT	0.381																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4081-4086)aagtfs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558791_118558792delTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4083_4084delAA	1.37:g.118558793_118558794delTT	ENSP00000337804:p.Ser1362fs						p.KS1361fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	29	4148_4149	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1361					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.4083_4084delAA	CCDS899.1																																																																																				0.381	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		31	50						31	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179419627	179419627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:179419627delC	ENST00000591111.1	-	281	83860	c.83636delG	c.(83635-83637)ggcfs	p.G27879fs	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.G29520fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.G20455fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.G20580fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.G20647fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.G26952fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27879	Ig-like 130.			G -> A (in Ref. 1; CAA62188). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGCTGAGCCCATGGCATT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(88558-88560)gcfs		titin							95.0	94.0	94.0					2																	179419627		1954	4160	6114	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419627delC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83636delG	2.37:g.179419627delC	ENSP00000465570:p.Gly27879fs					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.G20580fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.G26952fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.G20455fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.G27879fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.G20647fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.G29520fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		331	88783	-			27879			Fibronectin type-III 115.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.88559delG																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	51						12	51	---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:10930655delC	ENST00000283141.6	+	19	1837	c.1541delC	c.(1540-1542)accfs	p.T514fs	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus (GO:0005634)		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358																																						ENST00000283141.6																			1	Substitution - Missense(1)	p.T514N(1)	lung(1)	breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1540-1542)acfs		synaptonemal complex protein 2-like							78.0	73.0	74.0					6																	10930655		1811	4078	5889	SO:0001589	frameshift_variant	221711					nucleus		g.chr6:10930655delC	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1541delC	6.37:g.10930655delC	ENSP00000283141:p.Thr514fs					RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_3'UTR	p.T514fs	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		19	1837	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	514					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Frame_Shift_Del	DEL	ENST00000283141.6	37	c.1541delC	CCDS43423.1																																																																																				0.358	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		30	50						30	50	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)cggfs	p.R304fs	AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627																																						ENST00000320285.4																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R303fs*7(2)|p.R303fs*60(1)	large_intestine(2)|ovary(1)	endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(907-909)ggfs		1-acylglycerol-3-phosphate O-acyltransferase 4							60.0	70.0	66.0					6																	161560589		2203	4300	6503	SO:0001589	frameshift_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560589delG	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.907delC	6.37:g.161560589delG	ENSP00000314036:p.Arg304fs					AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	p.R304fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1119	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	304					B4DSF9|Q5TEF0	Frame_Shift_Del	DEL	ENST00000320285.4	37	c.907delC	CCDS5280.1																																																																																				0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		7	218						7	218	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		3	4						3	4	---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)aagfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)agfs		KIAA0020							259.0	237.0	244.0					9																	2837296		1837	4098	5935	SO:0001589	frameshift_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296delT	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188delA	9.37:g.2837296delT	ENSP00000380982:p.Lys63fs						p.K63fs	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	394	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Frame_Shift_Del	DEL	ENST00000397885.2	37	c.188delA	CCDS6448.2																																																																																				0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		7	273						7	273	---	---	---	---
TRAF2	7186	broad.mit.edu	37	9	139793219	139793219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:139793219delT	ENST00000247668.2	+	2	79	c.27delT	c.(25-27)cctfs	p.P9fs	TRAF2_ENST00000536468.1_Frame_Shift_Del_p.P9fs|TRAF2_ENST00000359662.3_Frame_Shift_Del_p.P9fs	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGACCCCCCCTGGCTCCCTGG	0.597																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(25-27)ccfs		TNF receptor-associated factor 2							39.0	39.0	39.0					9																	139793219		2203	4300	6503	SO:0001589	frameshift_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139793219delT	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.27delT	9.37:g.139793219delT	ENSP00000247668:p.Pro9fs					TRAF2_ENST00000536468.1_Frame_Shift_Del_p.P9fs|TRAF2_ENST00000247668.2_Frame_Shift_Del_p.P9fs	p.P9fs			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	72	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	9					A8K107|B4DPJ7|Q7Z337|Q96NT2	Frame_Shift_Del	DEL	ENST00000247668.2	37	c.27delT	CCDS7013.1																																																																																				0.597	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		14	32						14	32	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99670283	99670284	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:99670283_99670284delGA	ENST00000560674.1	+	4	1329_1330	c.860_861delGA	c.(859-861)cgafs	p.R287fs	SYNM_ENST00000328642.7_Frame_Shift_Del_p.R572fs|SYNM_ENST00000336292.6_Frame_Shift_Del_p.R572fs|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	573	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAGAGCGTGCGAGAGAGAGAGG	0.515																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1714-1716)cfs		synemin, intermediate filament protein																																				SO:0001589	frameshift_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670283_99670284delGA	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.860_861delGA	15.37:g.99670291_99670292delGA	ENSP00000453040:p.Arg287fs					RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Frame_Shift_Del_p.R572fs|SYNM_ENST00000560674.1_Frame_Shift_Del_p.R287fs|SYNM_ENST00000561323.1_3'UTR	p.R572fs	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1835_1836	+			573			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Frame_Shift_Del	DEL	ENST00000560674.1	37	c.1715_1716delGA																																																																																					0.515	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		15	1635						15	1635	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937602	76937602	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:76937602delA	ENST00000373344.5	-	9	3360	c.3146delT	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTATCTCTTATTTTTTTACT	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3145-3147)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						63.0	71.0	68.0					X																	76937602		2200	4272	6472	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937602delA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3146delT	X.37:g.76937602delA	ENSP00000362441:p.Ile1049fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	p.I1049fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3360	-			1049					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3146delT	CCDS14434.1																																																																																				0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		72	118						72	118	---	---	---	---
