#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
SEMA5A	9037	broad.mit.edu	37	5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T	rs200772051		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGCCAGGCCGAGCGCGAGTT	0.587																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1027-1029)tCg>tAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							88.0	86.0	86.0					5																	9197320		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197320G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1028C>A	5.37:g.9197320G>T	ENSP00000371936:p.Ser343*						p.S343*	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1693	-			343			Sema.		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.1028C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	45	12.020084	0.99627	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7642	0.85520	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000371936:S343X	S	-	2	0	SEMA5A	9250320	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.574000	0.98184	2.621000	0.88768	0.603000	0.83216	TCG		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			13	566	1	0	0.000308642	0.000308642	0.00435582	13	566				
UBE2E3	10477	broad.mit.edu	37	2	181922476	181922476	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:181922476C>A	ENST00000410062.4	+	4	695	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	101				P -> L (in Ref. 3; AAP97266). {ECO:0000305}.	protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTTGGTCCACCGGGTTCTGTA	0.343																																						ENST00000410062.4																			0				breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						c.(301-303)cCg>cAg		ubiquitin-conjugating enzyme E2E 3							115.0	121.0	119.0					2																	181922476		2203	4300	6503	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181922476C>A	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.302C>A	2.37:g.181922476C>A	ENSP00000386788:p.Pro101Gln					UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q	p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN			4	695	+			101	P -> L (in Ref. 3; AAP97266).				B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.302C>A	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553589	0.65425	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000426294;ENST00000409247	T;T	0.59906	0.23;0.23	4.88	4.88	0.63580	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.059057	0.64402	D	0.000003	T	0.50786	0.1636	L	0.31157	0.91	0.80722	D	1	B	0.19706	0.038	B	0.25614	0.062	T	0.51411	-0.8709	10	0.72032	D	0.01	.	18.5805	0.91168	0.0:1.0:0.0:0.0	.	101	Q969T4	UB2E3_HUMAN	Q	101	ENSP00000376215:P101Q;ENSP00000386788:P101Q	ENSP00000376215:P101Q	P	+	2	0	UBE2E3	181630721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.686000	0.91538	0.585000	0.79938	CCG		0.343	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		12	1071	1	0	0.00010058	0.00010058	0.00173709	12	1071				
ZNF547	284306	broad.mit.edu	37	19	57883234	57883234	+	Missense_Mutation	SNP	C	C	A	rs539742345		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:57883234C>A	ENST00000282282.3	+	3	259	c.109C>A	c.(109-111)Cgt>Agt	p.R37S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.512																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(109-111)Cgt>Agt		zinc finger protein 547							419.0	380.0	393.0					19																	57883234		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883234C>A	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.109C>A	19.37:g.57883234C>A	ENSP00000282282:p.Arg37Ser					AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	259	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	37			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.109C>A	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496785	0.12762	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.02656	4.21	2.01	0.202	0.15190	Krueppel-associated box (4);	.	.	.	.	T	0.06096	0.0158	M	0.92026	3.265	0.09310	N	1	B;B	0.30634	0.288;0.009	B;B	0.28385	0.089;0.015	T	0.21895	-1.0232	9	0.48119	T	0.1	.	3.8214	0.08837	0.0:0.6244:0.0:0.3756	.	37;37	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	S	37	ENSP00000282282:R37S	ENSP00000282282:R37S	R	+	1	0	ZNF547	62575046	0.000000	0.05858	0.039000	0.18376	0.709000	0.40893	-1.715000	0.01880	0.084000	0.17077	0.561000	0.74099	CGT		0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		10	1211	1	0	0.000157383	0.000157383	0.00254253	10	1211				
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGGAATATGCGCCCATAGAG	0.587																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(649-651)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						92.0	103.0	99.0					5																	63256897		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256897C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.650G>A	5.37:g.63256897C>T	ENSP00000316244:p.Arg217His					RP11-158J3.2_ENST00000502882.1_RNA	p.R217H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	883	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	217					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.650G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336965	0.81801	.	.	ENSG00000178394	ENST00000323865	T	0.39056	1.1	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.197923	0.43919	D	0.000519	T	0.64427	0.2597	M	0.81614	2.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.68236	-0.5462	10	0.87932	D	0	.	12.1821	0.54218	0.0:0.9226:0.0:0.0774	.	217	P08908	5HT1A_HUMAN	H	217	ENSP00000316244:R217H	ENSP00000316244:R217H	R	-	2	0	HTR1A	63292653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.692000	0.91855	0.655000	0.94253	CGC		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		6	662	0	0	0	8.12818e-05	0	6	662				
QRICH2	84074	broad.mit.edu	37	17	74288268	74288268	+	Missense_Mutation	SNP	A	A	T	rs6501874	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:74288268A>T	ENST00000262765.5	-	4	2221	c.2042T>A	c.(2041-2043)gTt>gAt	p.V681D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	681	Gln-rich.		V -> D (in dbSNP:rs6501874).							breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accatgctgaactgcaccagg	0.562																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(2041-2043)gTt>gAt		glutamine rich 2							94.0	90.0	92.0					17																	74288268		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288268A>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2042T>A	17.37:g.74288268A>T	ENSP00000262765:p.Val681Asp						p.V681D	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	2221	-			681		V -> D (in dbSNP:rs6501874).	Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.2042T>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.405553	0.01155	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.24151	1.87	4.68	-9.36	0.00629	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23048	-1.0199	9	0.27785	T	0.31	1.904	2.112	0.03705	0.3005:0.1142:0.1299:0.4554	rs6501874;rs6501874	681;681	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	681	ENSP00000262765:V681D	ENSP00000262765:V681D	V	-	2	0	QRICH2	71799863	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.321000	0.00131	-5.541000	0.00013	-6.136000	0.00000	GTT		0.562	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		6	323	0	0	0	0.000673444	0	6	323				
SLC27A2	11001	broad.mit.edu	37	15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T	rs554769451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	317					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAACTGCTTCGGTATTTATGC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000267842.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(949-951)cGg>cTg		solute carrier family 27 (fatty acid transporter), member 2							143.0	117.0	126.0					15																	50497538		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497538G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.950G>T	15.37:g.50497538G>T	ENSP00000267842:p.Arg317Leu					SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L|SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L	p.R317L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1182	+		all_lung(180;0.00177)	317					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.950G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964749	0.74131	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52754	0.65;0.88;0.88	5.28	3.43	0.39272	AMP-dependent synthetase/ligase (1);	0.114447	0.64402	D	0.000011	T	0.77611	0.4156	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.989	T	0.81642	-0.0840	10	0.87932	D	0	.	9.6524	0.39906	0.167:0.0:0.833:0.0	.	264;317	Q6PF09;O14975	.;S27A2_HUMAN	L	264;317;82	ENSP00000370289:R264L;ENSP00000267842:R317L;ENSP00000444549:R82L	ENSP00000267842:R317L	R	+	2	0	SLC27A2	48284830	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.907000	0.69908	0.827000	0.34685	-0.251000	0.11542	CGG		0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		13	624	1	0	3.45872e-05	0.000422831	0.000740545	13	624				
POU4F2	5458	broad.mit.edu	37	4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	27					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCCAAGTACTCGGCACTGCAC	0.706																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(79-81)tCg>tTg		POU class 4 homeobox 2							16.0	16.0	16.0					4																	147560372		2153	4223	6376	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560372C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.80C>T	4.37:g.147560372C>T	ENSP00000281321:p.Ser27Leu						p.S27L	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	328	+	all_hematologic(180;0.151)		27					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.80C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437096	0.83885	.	.	ENSG00000151615	ENST00000281321	T	0.35048	1.33	4.77	4.77	0.60923	.	1.187410	0.06496	N	0.735449	T	0.48519	0.1504	L	0.27053	0.805	0.58432	D	0.999999	D	0.58620	0.983	P	0.61201	0.885	T	0.18650	-1.0330	10	0.42905	T	0.14	.	15.2933	0.73882	0.0:1.0:0.0:0.0	.	27	Q12837	PO4F2_HUMAN	L	27	ENSP00000281321:S27L	ENSP00000281321:S27L	S	+	2	0	POU4F2	147779822	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.301000	0.78850	2.189000	0.69895	0.561000	0.74099	TCG		0.706	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	77	0	0	0	3.59834e-05	0	6	77				
MYO9B	4650	broad.mit.edu	37	19	17213368	17213368	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000594824.1	+	2	987		c.e2+1		MYO9B_ENST00000595618.1_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTGCTGGAGGTGAGCGGGGA	0.607																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e2+1		myosin IXB							8.0	9.0	9.0					19																	17213368		1987	4148	6135	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17213368G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.840+1G>A	19.37:g.17213368G>A						MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site		NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	992	+								O75314|Q9NUJ2|Q9UHN0	Splice_Site	SNP	ENST00000594824.1	37			.	.	.	.	.	.	.	.	.	.	G	21.1	4.091562	0.76756	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9365	0.89013	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO9B	17074368	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.459000	0.97638	2.480000	0.83734	0.655000	0.94253	.		0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	11	42	0	0	0	0.000673444	0	11	42				
MUC4	4585	broad.mit.edu	37	3	195509171	195509171	+	Missense_Mutation	SNP	G	G	A	rs71634716		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:195509171G>A	ENST00000463781.3	-	2	9739	c.9280C>T	c.(9280-9282)Ctt>Ttt	p.L3094F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3094F|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.L3094F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAAGGCTGGTGACA	0.602																																						ENST00000463781.3																			1	Substitution - Missense(1)	p.L3094F(1)	kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(9280-9282)Ctt>Ttt		mucin 4, cell surface associated							13.0	10.0	11.0					3																	195509171		666	1549	2215	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509171G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9280C>T	3.37:g.195509171G>A	ENSP00000417498:p.Leu3094Phe					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3094F	p.L3094F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	9739	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	835					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.9280C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	13.68	2.309979	0.40895	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36520	1.4;1.25	.	.	.	.	.	.	.	.	T	0.17280	0.0415	N	0.14661	0.345	0.09310	N	0.999996	P	0.47604	0.898	B	0.40165	0.321	T	0.07462	-1.0771	7	.	.	.	.	3.4791	0.07595	1.0E-4:1.0E-4:0.5545:0.4454	.	2966	E7ESK3	.	F	3094	ENSP00000417498:L3094F;ENSP00000420243:L3094F	.	L	-	1	0	MUC4	196993950	.	.	0.015000	0.15790	0.000000	0.00434	.	.	0.497000	0.27926	0.000000	0.15137	CTT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	6	0	0	0	0.000602214	0	3	6				
MYH8	4626	broad.mit.edu	37	17	10317271	10317271	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:10317271C>A	ENST00000403437.2	-	12	1189	c.1095G>T	c.(1093-1095)atG>atT	p.M365I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	365	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTGAATTTCATGTTCCCAT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1093-1095)atG>atT		myosin, heavy chain 8, skeletal muscle, perinatal							164.0	155.0	158.0					17																	10317271		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10317271C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1095G>T	17.37:g.10317271C>A	ENSP00000384330:p.Met365Ile					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.M365I	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			12	1189	-			365			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1095G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808986	0.70797	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85773	-2.03	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.136497	0.32901	U	0.005511	D	0.82600	0.5072	L	0.41124	1.26	0.54753	D	0.999987	B	0.16396	0.017	B	0.27262	0.078	T	0.80202	-0.1480	10	0.87932	D	0	.	18.164	0.89719	0.0:1.0:0.0:0.0	.	365	P13535	MYH8_HUMAN	I	365	ENSP00000384330:M365I	ENSP00000252173:M365I	M	-	3	0	MYH8	10257996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.836000	0.69375	2.534000	0.85438	0.650000	0.86243	ATG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		10	710	1	0	6.40141e-05	6.40141e-05	0.00117365	10	710				
DYNC1I1	1780	broad.mit.edu	37	7	95614201	95614201	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:95614201C>A	ENST00000324972.6	+	8	899	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTTTTGACCGGACAATACG	0.398																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(706-708)Cgg>Agg		dynein, cytoplasmic 1, intermediate chain 1							105.0	111.0	109.0					7																	95614201		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614201C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.706C>A	7.37:g.95614201C>A						DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000537881.1_Silent_p.R199R	p.R236R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	899	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		236					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.706C>A	CCDS5644.1																																																																																				0.398	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		8	544	1	0	0.000442599	0.000442599	0.00556767	8	544				
TAS2R4	50832	broad.mit.edu	37	7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTGCTGAAGCGGAATATCTCC	0.478																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(367-369)cGg>cTg		taste receptor, type 2, member 4							171.0	159.0	163.0					7																	141478656		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478656G>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.368G>T	7.37:g.141478656G>T	ENSP00000247881:p.Arg123Leu					SSBP1_ENST00000465582.1_Intron	p.R123L	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	415	+	Melanoma(164;0.0171)		123					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.368G>T	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974173	0.34848	.	.	ENSG00000127364	ENST00000247881	T	0.00711	5.8	5.52	4.64	0.57946	.	0.625698	0.16289	N	0.220974	T	0.01800	0.0057	L	0.43554	1.36	0.09310	N	1	P	0.48640	0.913	P	0.56788	0.806	T	0.52533	-0.8563	10	0.41790	T	0.15	.	7.605	0.28097	0.0858:0.1661:0.7482:0.0	.	123	Q9NYW5	TA2R4_HUMAN	L	123	ENSP00000247881:R123L	ENSP00000247881:R123L	R	+	2	0	TAS2R4	141125125	0.003000	0.15002	0.033000	0.17914	0.290000	0.27261	0.174000	0.16743	1.575000	0.49775	0.632000	0.83419	CGG		0.478	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			9	674	1	0	3.07112e-06	6.40141e-05	8.57171e-05	9	674				
XCR1	2829	broad.mit.edu	37	3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(667-669)aCg>aTg		chemokine (C motif) receptor 1							68.0	62.0	64.0					3																	46062772		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062772G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.668C>T	3.37:g.46062772G>A	ENSP00000310405:p.Thr223Met					XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1024	-			223						Missense_Mutation	SNP	ENST00000309285.3	37	c.668C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391139	0.62066	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.109301	0.64402	D	0.000006	T	0.72415	0.3457	M	0.88450	2.955	0.48571	D	0.999674	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	223	P46094	XCR1_HUMAN	M	223	ENSP00000310405:T223M;ENSP00000438119:T223M	ENSP00000310405:T223M	T	-	2	0	XCR1	46037776	1.000000	0.71417	0.542000	0.28115	0.351000	0.29236	7.903000	0.87398	2.696000	0.92011	0.650000	0.86243	ACG		0.582	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			21	200	0	0	0	0.000295444	0	21	200				
RCOR3	55758	broad.mit.edu	37	1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGAAGAATTCAAACCTCCTG	0.353																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(829-831)ttC>ttA		REST corepressor 3							110.0	108.0	109.0					1																	211469083		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211469083C>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.831C>A	1.37:g.211469083C>A	ENSP00000355972:p.Phe277Leu					RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	p.F277L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	8	972	+			277					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.831C>A	CCDS31016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.201|9.201	1.028368|1.028368	0.19512|0.19512	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763|ENST00000534460	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Homeodomain-like (1);|.	0.197157|.	0.56097|.	D|.	0.000037|.	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.10837|0.10837	0.055|0.055	0.48762|0.48762	D|D	0.999706|0.999706	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.003|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.05833|.	T|.	0.94|.	-8.0213|-8.0213	17.0544|17.0544	0.86529|0.86529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335;277;335;335|.	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4|.	.;RCOR3_HUMAN;.;.|.	L|K	335;335;335;277;95|122	ENSP00000355973:F335L;ENSP00000398558:F335L;ENSP00000413929:F335L;ENSP00000355972:F277L;ENSP00000437048:F95L|.	ENSP00000355972:F277L|.	F|Q	+|+	3|1	2|0	RCOR3|RCOR3	209535706|209535706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.693000|3.693000	0.54735|0.54735	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.353	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		7	262	1	0	2.17888e-05	0.000442599	0.00047966	7	262				
ZFP14	57677	broad.mit.edu	37	19	36831324	36831324	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:36831324G>A	ENST00000270001.7	-	5	1519	c.1404C>T	c.(1402-1404)acC>acT	p.T468T		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	468					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)	p.T468T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTGATGTTGGGTAAGTTGTG	0.373																																						ENST00000270001.7																			1	Substitution - coding silent(1)	p.T468T(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(1402-1404)acC>acT		ZFP14 zinc finger protein							103.0	97.0	99.0					19																	36831324		2203	4300	6503	SO:0001819	synonymous_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831324G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1404C>T	19.37:g.36831324G>A							p.T468T	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	1519	-	Esophageal squamous(110;0.162)		468					A7MD23	Silent	SNP	ENST00000270001.7	37	c.1404C>T	CCDS33002.1																																																																																				0.373	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		7	427	0	0	0	0.000274275	0	7	427				
SCNM1	79005	broad.mit.edu	37	1	151143009	151143009	+	IGR	SNP	C	C	A	rs148198423		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:151143009C>A	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Missense_Mutation_p.R265L	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCATTGTTTCGGGTCATGGC	0.537																																						ENST00000416280.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(793-795)cGa>cTa		tropomodulin 4 (muscle)							176.0	167.0	170.0					1																	151143009		2203	4300	6503	SO:0001628	intergenic_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151143009C>A	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143009C>A							p.R265L			Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	893	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		334					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.794G>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087532	0.55968	.	.	ENSG00000163157	ENST00000295314;ENST00000416280	D;D	0.93859	-3.3;-3.3	5.88	4.0	0.46444	.	0.120572	0.52532	D	0.000062	D	0.92899	0.7741	M	0.86268	2.805	0.80722	D	1	D;P;B	0.56968	0.978;0.546;0.325	P;B;B	0.49752	0.621;0.226;0.176	D	0.93279	0.6658	10	0.87932	D	0	-20.417	9.6355	0.39804	0.0:0.7799:0.0:0.2201	.	265;334;334	B7Z6N9;Q9NZQ9;B2R891	.;TMOD4_HUMAN;.	L	334;265	ENSP00000295314:R334L;ENSP00000414180:R265L	ENSP00000295314:R334L	R	-	2	0	TMOD4	149409633	0.012000	0.17670	0.975000	0.42487	0.986000	0.74619	1.410000	0.34691	1.502000	0.48669	0.561000	0.74099	CGA		0.537	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		8	759	1	0	6.40141e-05	6.40141e-05	0.00117365	8	759				
ZC3H12B	340554	broad.mit.edu	37	X	64719034	64719034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	302							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAACTACCGAGACCTTCA	0.443																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(904-906)Cga>Aga		zinc finger CCCH-type containing 12B							107.0	98.0	101.0					X																	64719034		1891	4098	5989	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719034C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.904C>A	X.37:g.64719034C>A						ZC3H12B_ENST00000423889.3_Silent_p.R291R	p.R302R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			3	971	+			291					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.904C>A	CCDS48131.2																																																																																				0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		7	336	1	0	2.7689e-08	8.12818e-05	9.72536e-07	7	336				
SVIL	6840	broad.mit.edu	37	10	29788191	29788191	+	Splice_Site	SNP	C	C	A	rs372472784		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:29788191C>A	ENST00000355867.4	-	18	4270	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	SVIL_ENST00000375400.3_Splice_Site_p.R747L|SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000538146.1_5'Flank|SVIL_ENST00000375398.2_Splice_Site_p.R1173L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.e20-1		supervillin							79.0	68.0	72.0					10																	29788191		2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29788191C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3517-1G>T	10.37:g.29788191C>A						SVIL_ENST00000375400.3_Splice_Site_p.R747_splice|SVIL_ENST00000535393.1_Splice_Site_p.R87_splice|SVIL_ENST00000355867.4_Splice_Site_p.R1173_splice	p.R1173_splice			O95425	SVIL_HUMAN			20	3967	-		Breast(68;0.103)	1173					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.3516_splice	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156495	0.38119	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.14266	2.63;2.66;2.66;2.52	4.13	2.28	0.28536	.	0.324362	0.34853	N	0.003624	T	0.17195	0.0413	M	0.68952	2.095	0.80722	D	1	B;P;B	0.41159	0.403;0.74;0.38	B;B;B	0.41374	0.119;0.355;0.274	T	0.02042	-1.1224	10	0.59425	D	0.04	-10.9371	10.3423	0.43887	0.0:0.8378:0.0:0.1622	.	87;747;1173	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	747;1173;1173;87;127	ENSP00000364549:R747L;ENSP00000364547:R1173L;ENSP00000348128:R1173L;ENSP00000445472:R87L	ENSP00000348128:R1173L	R	-	2	0	SVIL	29828197	0.999000	0.42202	0.998000	0.56505	0.608000	0.37181	2.104000	0.41815	0.417000	0.25871	-1.100000	0.02121	CGG		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Missense_Mutation	8	453	1	0	2.17888e-05	0.000442599	0.00047966	8	453				
SEC63	11231	broad.mit.edu	37	6	108233927	108233927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:108233927G>T	ENST00000369002.4	-	6	745	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	189					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACCAGAATTGAGTTTTTCTG	0.318																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(565-567)tCa>tAa		SEC63 homolog (S. cerevisiae)							37.0	38.0	37.0					6																	108233927		2203	4300	6503	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108233927G>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.566C>A	6.37:g.108233927G>T	ENSP00000357998:p.Ser189*						p.S189*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	6	745	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	189					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.566C>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396668	0.96009	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6283	17.1599	0.86801	0.0:0.0:1.0:0.0	.	.	.	.	X	189;49;133	.	ENSP00000357998:S189X	S	-	2	0	SEC63	108340620	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.879000	0.92398	2.480000	0.83734	0.555000	0.69702	TCA		0.318	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	293	1	0	1.12685e-05	0.000274275	0.000275198	7	293				
FANCI	55215	broad.mit.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	A	rs536499156		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1732-1734)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							216.0	186.0	196.0					15																	89828362		2200	4299	6499	SO:0001819	synonymous_variant	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89828362C>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1734C>A	15.37:g.89828362C>A						FANCI_ENST00000300027.8_Silent_p.V578V	p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			18	1820	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		578					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	c.1734C>A	CCDS45346.1																																																																																				0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		11	662	1	0	9.31168e-06	0.000151284	0.000235695	11	662				
NIF3L1	60491	broad.mit.edu	37	2	201760066	201760066	+	Silent	SNP	C	C	A	rs200075304		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000359683.4_Silent_p.R200R			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373																																						ENST00000409020.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(679-681)Cgg>Agg		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							133.0	120.0	124.0					2																	201760066		1828	4087	5915	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201760066C>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.679C>A	2.37:g.201760066C>A						NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R	p.R227R			Q9GZT8	NIF3L_HUMAN			4	973	+			227					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.679C>A	CCDS46485.1																																																																																				0.373	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		10	540	1	0	3.86212e-05	0.000673444	0.000778902	10	540				
DDB1	1642	broad.mit.edu	37	11	61070620	61070620	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:61070620C>A	ENST00000301764.7	-	23	3237	c.2840G>T	c.(2839-2841)cGa>cTa	p.R947L	DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.R258L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTAAAGTCTCGAGCAATCTT	0.413								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2839-2841)cGa>cTa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							120.0	112.0	115.0					11																	61070620		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070620C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2840G>T	11.37:g.61070620C>A	ENSP00000301764:p.Arg947Leu					DDB1_ENST00000450997.2_Missense_Mutation_p.R258L|DDB1_ENST00000538470.1_5'UTR	p.R947L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			23	3237	-			947			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2840G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121102	0.94385	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	T;T;T	0.50548	0.74;0.74;0.74	5.18	5.18	0.71444	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.88310	2.945	0.80722	D	1	D;D	0.63880	0.993;0.966	D;D	0.69142	0.962;0.931	T	0.78886	-0.2027	10	0.56958	D	0.05	-6.7829	18.6942	0.91594	0.0:1.0:0.0:0.0	.	258;947	B4DG00;Q16531	.;DDB1_HUMAN	L	947;258;113	ENSP00000301764:R947L;ENSP00000388705:R258L;ENSP00000439787:R113L	ENSP00000301764:R947L	R	-	2	0	DDB1	60827196	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.802000	0.85969	2.426000	0.82243	0.491000	0.48974	CGA		0.413	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		8	545	1	0	0.000442599	0.000442599	0.00556767	8	545				
HUNK	30811	broad.mit.edu	37	21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGAGACTTGAAGATAGAGAA	0.299																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(562-564)Aag>Gag		hormonally up-regulated Neu-associated kinase							125.0	121.0	123.0					21																	33312484		2201	4298	6499	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33312484A>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.562A>G	21.37:g.33312484A>G	ENSP00000270112:p.Lys188Glu						p.K188E	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			3	922	+			188			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.562A>G	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698055	0.88830	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.99863	4.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.0584	15.5563	0.76196	1.0:0.0:0.0:0.0	.	188	P57058	HUNK_HUMAN	E	188;73	ENSP00000270112:K188E;ENSP00000411860:K73E	ENSP00000270112:K188E	K	+	1	0	HUNK	32234355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.186000	0.89706	2.317000	0.78254	0.460000	0.39030	AAG		0.299	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		12	233	0	0	0	0.000219431	0	12	233				
STAP1	26228	broad.mit.edu	37	4	68436855	68436855	+	Silent	SNP	C	C	A	rs575858699		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	58	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTATACCGACAAAAAGA	0.328																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(172-174)acC>acA		signal transducing adaptor family member 1							125.0	142.0	137.0					4																	68436855		2203	4298	6501	SO:0001819	synonymous_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436855C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.174C>A	4.37:g.68436855C>A						STAP1_ENST00000396225.1_Silent_p.T58T	p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			2	256	+			58			PH.		B2R980	Silent	SNP	ENST00000265404.2	37	c.174C>A	CCDS3515.1																																																																																				0.328	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		12	840	1	0	5.50884e-06	0.00010058	0.000142319	12	840				
HMGB1P5	10354	broad.mit.edu	37	3	22424061	22424061	+	RNA	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:22424061T>A	ENST00000451497.1	+	0	626									high mobility group box 1 pseudogene 5																		GTAAGATTTGTTTTTAAACTG	0.338																																						ENST00000451497.1																			0																																																			0							g.chr3:22424061T>A	AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424061T>A														0	626	+									RNA	SNP	ENST00000451497.1	37																																																																																						0.338	HMGB1P5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340803.1	NG_000897		12	92	0	0	0	6.40141e-05	0	12	92				
UPF3A	65110	broad.mit.edu	37	13	115057115	115057115	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000351487.5_Silent_p.R199R|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448																																						ENST00000375299.3																			1	Substitution - Nonsense(1)	p.R232*(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(694-696)Cga>Aga		UPF3 regulator of nonsense transcripts homolog A (yeast)							65.0	65.0	65.0					13																	115057115		2203	4300	6503	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115057115C>A	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.694C>A	13.37:g.115057115C>A						UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	p.R232R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	7	750	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	232					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.694C>A	CCDS9543.1																																																																																				0.448	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			14	851	1	0	0.000566183	0.000566183	0.00706542	14	851				
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C	rs201680274		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.K353E(1)	lung(1)								c.(1057-1059)Aaa>Gaa		zinc finger protein 91							41.0	44.0	43.0					19																	23544724		2011	4192	6203	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544724T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1057A>G	19.37:g.23544724T>C	ENSP00000300619:p.Lys353Glu					ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron	p.K353E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1262	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	353					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1057A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	1.992	-0.431577	0.04669	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07567	3.18;3.18	1.65	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.05158	-0.105	0.09310	N	1	B;B	0.18968	0.032;0.0	B;B	0.15052	0.012;0.003	T	0.43376	-0.9395	9	0.12103	T	0.63	.	0.9503	0.01374	0.1559:0.2641:0.3143:0.2656	.	321;353	Q05481-2;Q05481	.;ZNF91_HUMAN	E	353;321	ENSP00000300619:K353E;ENSP00000380272:K321E	ENSP00000300619:K353E	K	-	1	0	ZNF91	23336564	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-4.975000	0.00164	-1.510000	0.01796	-1.288000	0.01363	AAA		0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		9	335	0	0	0	0.000422831	0	9	335				
CT55	54967	broad.mit.edu	37	X	134294414	134294414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:134294414C>A	ENST00000276241.6	-	3	572	c.346G>T	c.(346-348)Gga>Tga	p.G116*	CXorf48_ENST00000344129.2_Nonsense_Mutation_p.G116*	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		116										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTAACACATCCAATTAAAACT	0.328																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(346-348)Gga>Tga		chromosome X open reading frame 48							28.0	27.0	27.0					X																	134294414		2202	4298	6500	SO:0001587	stop_gained	54967							g.chrX:134294414C>A																												ENST00000276241.6:c.346G>T	X.37:g.134294414C>A	ENSP00000276241:p.Gly116*					CXorf48_ENST00000276241.6_Nonsense_Mutation_p.G116*	p.G116*	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			3	572	-	Acute lymphoblastic leukemia(192;0.000127)		116					Q9NWY8	Nonsense_Mutation	SNP	ENST00000276241.6	37	c.346G>T	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337580	0.60963	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	.	.	.	2.93	2.03	0.26663	.	1.449800	0.04630	N	0.403407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.3107	5.5897	0.17293	0.0:0.8368:0.0:0.1632	.	.	.	.	X	116	.	ENSP00000276241:G116X	G	-	1	0	CXorf48	134122080	0.710000	0.27896	0.002000	0.10522	0.003000	0.03518	2.725000	0.47294	0.611000	0.30052	0.594000	0.82650	GGA		0.328	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			7	297	1	0	0.000157383	0.000157383	0.00254253	7	297				
POMT2	29954	broad.mit.edu	37	14	77751907	77751907	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:77751907G>T	ENST00000261534.4	-	13	1603	c.1401C>A	c.(1399-1401)atC>atA	p.I467I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	467	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCAGCACTTTGATCCGGTTTC	0.453																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1399-1401)atC>atA		protein-O-mannosyltransferase 2							287.0	317.0	307.0					14																	77751907		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751907G>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1401C>A	14.37:g.77751907G>T							p.I467I	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1603	-			467			MIR 3.		Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.1401C>A	CCDS9857.1																																																																																				0.453	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		14	1522	1	0	0.000274275	0.000274275	0.0039602	14	1522				
ALPK3	57538	broad.mit.edu	37	15	85366575	85366575	+	Missense_Mutation	SNP	G	G	T	rs145993158	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85366575G>T	ENST00000258888.5	+	2	931	c.764G>T	c.(763-765)cGg>cTg	p.R255L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	255					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAAGCAACCGGTTGTCTCAC	0.453																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(763-765)cGg>cTg		alpha-kinase 3							237.0	203.0	214.0					15																	85366575		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85366575G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.764G>T	15.37:g.85366575G>T	ENSP00000258888:p.Arg255Leu						p.R255L	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		2	931	+			255					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.764G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721442	0.68959	.	.	ENSG00000136383	ENST00000258888	T	0.62788	0.0	5.91	5.0	0.66597	.	0.170295	0.35708	N	0.003027	T	0.54967	0.1891	N	0.24115	0.695	0.34256	D	0.679319	D	0.58970	0.984	P	0.49332	0.607	T	0.69514	-0.5125	10	0.72032	D	0.01	-16.9288	11.0653	0.47972	0.0845:0.0:0.9155:0.0	.	255	Q96L96	ALPK3_HUMAN	L	255	ENSP00000258888:R255L	ENSP00000258888:R255L	R	+	2	0	ALPK3	83167579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.872000	0.56085	1.505000	0.48720	-0.140000	0.14226	CGG		0.453	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	664	1	0	9.31168e-06	0.000151284	0.000235695	8	664				
OR52E8	390079	broad.mit.edu	37	11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTTGAGTCGAGCTTCCCA	0.418																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(715-717)cGa>cTa		olfactory receptor, family 52, subfamily E, member 8							81.0	91.0	87.0					11																	5878217		2141	4296	6437	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878217C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.716G>T	11.37:g.5878217C>A	ENSP00000444054:p.Arg239Leu					TRIM5_ENST00000380027.1_Intron	p.R239L	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	747	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	239					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.716G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389468	0.42410	.	.	ENSG00000183269	ENST00000537935	T	0.00330	8.08	4.42	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.129746	0.34700	N	0.003757	T	0.00936	0.0031	M	0.93375	3.41	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.24333	-1.0163	10	0.87932	D	0	.	7.2403	0.26092	0.1727:0.7351:0.0:0.0922	.	239	Q6IFG1	O52E8_HUMAN	L	239	ENSP00000444054:R239L	ENSP00000444054:R239L	R	-	2	0	OR52E8	5834793	0.000000	0.05858	0.001000	0.08648	0.792000	0.44763	0.588000	0.23924	1.169000	0.42739	0.549000	0.68633	CGA		0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		10	565	1	0	3.07112e-06	6.40141e-05	8.57171e-05	10	565				
ANGPTL7	10218	broad.mit.edu	37	1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A	rs572517061		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		R -> H (in dbSNP:rs28991002). {ECO:0000269|Ref.6}.		response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(418-420)Cgc>Agc		angiopoietin-like 7							198.0	160.0	173.0					1																	11252368		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11252368C>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.418C>A	1.37:g.11252368C>A	ENSP00000366015:p.Arg140Ser					MTOR_ENST00000361445.4_Intron	p.R140S	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	2	657	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	140		R -> H (in dbSNP:rs28991002).	Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.418C>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828114	0.50845	.	.	ENSG00000171819	ENST00000376819	T	0.76578	-1.03	6.17	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.369397	0.31624	N	0.007340	T	0.62514	0.2434	L	0.39692	1.235	0.43080	D	0.994731	P	0.43662	0.814	B	0.36464	0.225	T	0.61797	-0.6989	10	0.08179	T	0.78	.	9.13	0.36839	0.2506:0.6827:0.0:0.0667	.	140	O43827	ANGL7_HUMAN	S	140	ENSP00000366015:R140S	ENSP00000366015:R140S	R	+	1	0	ANGPTL7	11174955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.626000	0.50381	0.655000	0.94253	CGC		0.512	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		10	911	1	0	0.000673444	0.000673444	0.00785517	10	911				
GRK4	2868	broad.mit.edu	37	4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCTGTCTGATCTATGA	0.368																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1123-1125)Ctg>Atg		G protein-coupled receptor kinase 4							96.0	96.0	96.0					4																	3030990		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3030990C>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1123C>A	4.37:g.3030990C>A	ENSP00000381129:p.Leu375Met					GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M	p.L375M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	12	1466	+			375			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1123C>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321713	0.60634	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.21	3.38	0.38709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000015	T	0.26738	0.0654	N	0.11724	0.165	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;1.0	D;D;D;D	0.97110	1.0;0.989;0.949;1.0	T	0.12578	-1.0542	10	0.62326	D	0.03	-12.6799	4.8167	0.13371	0.0:0.5828:0.1638:0.2534	.	343;343;375;375	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	343;375;343;375	ENSP00000381128:L343M;ENSP00000381129:L375M;ENSP00000264764:L343M;ENSP00000427445:L375M	ENSP00000264764:L343M	L	+	1	2	GRK4	3000788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	0.606000	0.29965	0.643000	0.83706	CTG		0.368	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		8	423	1	0	1.12685e-05	0.000274275	0.000275198	8	423				
MAP2K4	6416	broad.mit.edu	37	17	12013744	12013744	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000353533.5	+	6	748		c.e6+1		MAP2K4_ENST00000415385.3_Splice_Site|MAP2K4_ENST00000581941.1_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.e7+1		mitogen-activated protein kinase kinase 4							89.0	90.0	89.0					17																	12013744		2203	4299	6502	SO:0001630	splice_region_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12013744G>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.685+1G>T	17.37:g.12013744G>T						MAP2K4_ENST00000353533.5_Splice_Site				P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	7	771	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)						B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	SNP	ENST00000353533.5	37		CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366763	0.82463	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11954469	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	.		0.308	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		Intron	46	403	1	0	2.55665e-31	0.000781405	1.03793e-29	46	403				
SLC38A1	81539	broad.mit.edu	37	12	46623409	46623409	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:46623409C>A	ENST00000398637.5	-	4	830	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	46					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTCACGATCAGAAATAAAC	0.284																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(136-138)Gat>Tat		solute carrier family 38, member 1							106.0	102.0	103.0					12																	46623409		1819	4078	5897	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46623409C>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.136G>T	12.37:g.46623409C>A	ENSP00000381634:p.Asp46Tyr					SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y	p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		4	830	-	Lung SC(27;0.137)|Renal(347;0.236)		46					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.136G>T	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612168	0.66672	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.10382	3.06;3.06;3.06;3.06;2.88	5.32	4.38	0.52667	.	0.458361	0.22316	N	0.061669	T	0.09862	0.0242	N	0.08118	0	0.47153	D	0.999331	B;P;D	0.58970	0.099;0.552;0.984	B;B;P	0.49829	0.019;0.135;0.623	T	0.32268	-0.9913	10	0.45353	T	0.12	-21.6098	15.9161	0.79521	0.1352:0.8648:0.0:0.0	.	46;46;46	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	Y	46	ENSP00000449607:D46Y;ENSP00000398142:D46Y;ENSP00000381634:D46Y;ENSP00000447853:D46Y;ENSP00000449756:D46Y	ENSP00000381634:D46Y	D	-	1	0	SLC38A1	44909676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.279000	0.43435	2.661000	0.90470	0.650000	0.86243	GAT		0.284	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			15	987	1	0	0.000308642	0.000308642	0.00435582	15	987				
KLHL32	114792	broad.mit.edu	37	6	97575296	97575296	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:97575296G>T	ENST00000369261.4	+	8	1734	c.1371G>T	c.(1369-1371)acG>acT	p.T457T	KLHL32_ENST00000544166.1_Silent_p.T13T|KLHL32_ENST00000539200.1_Silent_p.T388T|KLHL32_ENST00000536676.1_Silent_p.T421T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	457										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAACTAATACGGCACAATATC	0.318																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1369-1371)acG>acT		kelch-like family member 32							149.0	155.0	153.0					6																	97575296		2203	4299	6502	SO:0001819	synonymous_variant	114792							g.chr6:97575296G>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1371G>T	6.37:g.97575296G>T						KLHL32_ENST00000544166.1_Silent_p.T13T|KLHL32_ENST00000536676.1_Silent_p.T421T|KLHL32_ENST00000539200.1_Silent_p.T388T	p.T457T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	8	1734	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	457					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1371G>T	CCDS5038.1																																																																																				0.318	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		9	707	1	0	0.000442599	0.000442599	0.00556767	9	707				
TPO	7173	broad.mit.edu	37	2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A	rs375314609		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1804-1806)cGc>cAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	52.0	48.0	49.0		1805,1805,1634,1634,1805,1286	4.0	0.0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497610	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497610G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1805G>A	2.37:g.1497610G>A	ENSP00000318820:p.Arg602His					TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H	p.R602H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1896	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	602					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1805G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.266050|2.266050	0.40095|0.40095	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|0.089088	.|0.64402	.|D	.|0.000001	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.84773|0.84773	2.715|2.715	0.36481|0.36481	D|D	0.867864|0.867864	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.984;0.967;0.976;0.991	D|D	0.84961|0.84961	0.0877|0.0877	5|10	.|0.66056	.|D	.|0.02	-13.2581|-13.2581	6.5333|6.5333	0.22339|0.22339	0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345	.|.	.|602;429;545;602	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|H	77|602;602;602;429;602;545;429;531;76	.|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H	.|ENSP00000329869:R602H	A|R	+|+	1|2	0|0	TPO|TPO	1476617|1476617	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	0.772000|0.772000	0.26647|0.26647	1.151000|1.151000	0.42436|0.42436	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		23	115	0	0	0	0.000586117	0	23	115				
ELL	8178	broad.mit.edu	37	19	18556040	18556040	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:18556040G>T	ENST00000262809.4	-	11	1814	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Silent_p.I448I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	581					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCACCTTTTTGATTTTTCGAT	0.512			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1741-1743)atC>atA		elongation factor RNA polymerase II							214.0	224.0	221.0					19																	18556040		2203	4300	6503	SO:0001819	synonymous_variant	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18556040G>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1743C>A	19.37:g.18556040G>T							p.I581I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	11	1814	-			581						Silent	SNP	ENST00000262809.4	37	c.1743C>A	CCDS12380.1																																																																																				0.512	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		15	1125	1	0	0.00010058	0.00010058	0.00173709	15	1125				
ABCD3	5825	broad.mit.edu	37	1	94956786	94956786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.R384R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	457	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTTTGATCCGAGACCTTAA	0.264																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1369-1371)Cga>Aga		ATP-binding cassette, sub-family D (ALD), member 3							51.0	53.0	52.0					1																	94956786		2202	4295	6497	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94956786C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1369C>A	1.37:g.94956786C>A						ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000536817.1_Silent_p.R384R	p.R457R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	16	1393	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	457			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1369C>A	CCDS749.1																																																																																				0.264	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		7	426	1	0	0.000442599	0.000442599	0.00556767	7	426				
AGO4	192670	broad.mit.edu	37	1	36291547	36291547	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:36291547C>A	ENST00000373210.3	+	6	891	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	216					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TGCTTTCTACCGGGCTCAGCC	0.423																																						ENST00000373210.3																			0											c.(646-648)Cgg>Agg		argonaute RISC catalytic component 4							185.0	184.0	184.0					1																	36291547		2203	4300	6503	SO:0001819	synonymous_variant	192670							g.chr1:36291547C>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.646C>A	1.37:g.36291547C>A							p.R216R	NM_017629.3	NP_060099.2					6	891	+								A7MD27	Silent	SNP	ENST00000373210.3	37	c.646C>A	CCDS397.1																																																																																				0.423	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		10	930	1	0	0.000673444	0.000673444	0.00785517	10	930				
FAM129A	116496	broad.mit.edu	37	1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A	rs371190847		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1252-1254)Gag>Tag		family with sequence similarity 129, member A							105.0	110.0	108.0					1																	184777291		2203	4300	6503	SO:0001587	stop_gained	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777291C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1252G>T	1.37:g.184777291C>A	ENSP00000356481:p.Glu418*					FAM129A_ENST00000487074.1_5'UTR	p.E418*	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			10	1445	-			418					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	c.1252G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450749	0.98292	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	.	0.159368	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.4623	16.9967	0.86369	0.0:1.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000356481:E418X	E	-	1	0	FAM129A	183043914	1.000000	0.71417	0.933000	0.37362	0.867000	0.49689	5.525000	0.67110	2.438000	0.82558	0.655000	0.94253	GAG		0.517	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			9	387	1	0	0.000442599	0.000442599	0.00556767	9	387				
TUBB8P7	197331	broad.mit.edu	37	16	90161602	90161602	+	RNA	SNP	T	T	C	rs368455696		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:90161602T>C	ENST00000564451.1	+	0	955				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GCGGAGCTGATGGAGTCAGTG	0.612																																						ENST00000567960.1																			0																																																			0							g.chr16:90161602T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161602T>C						TUBB8P7_ENST00000564451.1_RNA								0	338	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.612	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	148	0	0	0	0.000442599	0	5	148				
COL3A1	1281	broad.mit.edu	37	2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	394	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGTCCTGGTGGTAAAGGCGA	0.373																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1180-1182)Ggt>Tgt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						134.0	131.0	132.0					2																	189858794		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189858794G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1180G>T	2.37:g.189858794G>T	ENSP00000304408:p.Gly394Cys					COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	p.G394C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		17	1350	+			394			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1180G>T	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.180414|3.180414	0.57800|0.57800	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94376|.	-3.41;-3.41|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.52532|.	D|.	0.000069|.	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.29908|0.29908	0.895|0.895	0.39856|0.39856	D|D	0.973315|0.973315	D|.	0.76494|.	0.999|.	D|.	0.65323|.	0.934|.	T|T	0.49735|0.49735	-0.8908|-0.8908	10|5	0.56958|.	D|.	0.05|.	.|.	12.7679|12.7679	0.57403|0.57403	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	394|.	P02461|.	CO3A1_HUMAN|.	C|L	394|60	ENSP00000304408:G394C;ENSP00000315243:G394C|.	ENSP00000304408:G394C|.	G|W	+|+	1|2	0|0	COL3A1|COL3A1	189567039|189567039	0.787000|0.787000	0.28750|0.28750	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	2.172000|2.172000	0.42463|0.42463	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		7	397	1	0	0.000274275	0.000274275	0.0039602	7	397				
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	T	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(82-84)tcG>tcT		GTPase activating Rap/RanGAP domain-like 3							252.0	239.0	243.0					9																	130027240		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027240G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.84G>T	9.37:g.130027240G>T						GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			1	436	+			28					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.84G>T	CCDS6869.2																																																																																				0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		10	775	1	0	1.08611e-07	6.40141e-05	3.69041e-06	10	775				
AP1B1	162	broad.mit.edu	37	22	29763226	29763226	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:29763226C>A	ENST00000405198.1	-	1	38	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000357586.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATTTTGAGTCAGTCATTTTG	0.438																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(7-9)Gac>Tac		adaptor-related protein complex 1, beta 1 subunit							100.0	96.0	97.0					22																	29763226		2203	4297	6500	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29763226C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.7G>T	22.37:g.29763226C>A	ENSP00000384194:p.Asp3Tyr					AP1B1_ENST00000405198.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y	p.D3Y	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			2	193	-			3					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.7G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.704187	0.88924	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000421126	T;T;T;T;T;T;T	0.42131	1.05;1.1;1.07;1.05;0.98;1.07;1.24	5.63	5.63	0.86233	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.965;0.988;0.997;0.997	T	0.71543	-0.4561	10	0.87932	D	0	-36.2579	17.1792	0.86850	0.0:1.0:0.0:0.0	.	3;3;3;3	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	Y	3	ENSP00000350199:D3Y;ENSP00000348297:D3Y;ENSP00000400065:D3Y;ENSP00000384194:D3Y;ENSP00000319361:D3Y;ENSP00000386071:D3Y;ENSP00000400022:D3Y	ENSP00000319361:D3Y	D	-	1	0	AP1B1	28093226	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.417000	0.80156	2.654000	0.90174	0.651000	0.88453	GAC		0.438	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		9	373	1	0	0.000673444	0.000673444	0.00785517	9	373				
LRGUK	136332	broad.mit.edu	37	7	133827903	133827903	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:133827903C>A	ENST00000285928.2	+	4	645	c.576C>A	c.(574-576)ccC>ccA	p.P192P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	192						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCAAGCCACCCAAAAACCTCA	0.343																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(574-576)ccC>ccA		leucine-rich repeats and guanylate kinase domain containing							135.0	126.0	129.0					7																	133827903		2203	4299	6502	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133827903C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.576C>A	7.37:g.133827903C>A							p.P192P	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			4	645	+			192					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.576C>A	CCDS5830.1																																																																																				0.343	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		8	559	1	0	5.4927e-09	0.000274275	2.00821e-07	8	559				
LPHN2	23266	broad.mit.edu	37	1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*			O95490	LPHN2_HUMAN	latrophilin 2	948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGTGAATATTCAAGGAAAAAA	0.388																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2842-2844)tCa>tAa		latrophilin 2							133.0	133.0	133.0					1																	82436119		2203	4300	6503	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436119C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2843C>A	1.37:g.82436119C>A	ENSP00000359763:p.Ser948*					LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron	p.S948*			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3488	+			948					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.2843C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.738490|12.738490	0.99692|0.99692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32971|.	0.0847|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33163|.	-0.9879|.	3|.	.|0.02654	.|T	.|1	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	816|873;948;948;948;948;935;935;935;935;935;948;935;948;948	.|.	.|ENSP00000271029:S948X	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82208707|82208707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.388	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		11	470	1	0	0.00010058	0.00010058	0.00173709	11	470				
OR4K5	79317	broad.mit.edu	37	14	20389709	20389709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:20389709C>A	ENST00000315915.4	+	1	969	c.944C>A	c.(943-945)tCa>tAa	p.S315*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGAAATGTCACTAGTAGTG	0.353																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(943-945)tCa>tAa		olfactory receptor, family 4, subfamily K, member 5							78.0	89.0	85.0					14																	20389709		2197	4299	6496	SO:0001587	stop_gained	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389709C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.944C>A	14.37:g.20389709C>A	ENSP00000319511:p.Ser315*						p.S315*	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	969	+	all_cancers(95;0.00108)		315					Q6IFA7	Nonsense_Mutation	SNP	ENST00000315915.4	37	c.944C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.174	0.792368	0.16258	.	.	ENSG00000176281	ENST00000315915	.	.	.	3.86	2.97	0.34412	.	0.722095	0.11958	N	0.513029	.	.	.	.	.	.	0.27428	N	0.954092	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.382	0.21540	0.0:0.773:0.0:0.227	.	.	.	.	X	315	.	ENSP00000319511:S315X	S	+	2	0	OR4K5	19459549	0.002000	0.14202	0.078000	0.20375	0.003000	0.03518	0.686000	0.25392	0.963000	0.38082	-0.143000	0.13931	TCA		0.353	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		14	1050	1	0	0.00010058	0.00010058	0.00173709	14	1050				
SPATA22	84690	broad.mit.edu	37	17	3370750	3370750	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:3370750C>A	ENST00000573128.1	-	3	625	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000541913.1_Intron			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	48					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATAATTGTCAGAAGGGGTA	0.328																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(142-144)Gac>Tac		spermatogenesis associated 22							125.0	125.0	125.0					17																	3370750		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3370750C>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.142G>T	17.37:g.3370750C>A	ENSP00000459580:p.Asp48Tyr					SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y	p.D48Y			Q8NHS9	SPT22_HUMAN			3	625	-			48					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.142G>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.998442	0.54147	.	.	ENSG00000141255	ENST00000397168;ENST00000268981	T;T	0.25250	1.89;1.81	5.28	5.28	0.74379	.	0.305336	0.27451	N	0.019319	T	0.34250	0.0891	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.983	D;P	0.63192	0.912;0.874	T	0.04165	-1.0972	10	0.62326	D	0.03	-14.2456	9.5042	0.39037	0.1592:0.6871:0.1537:0.0	.	48;48	B4DXB1;Q8NHS9	.;SPT22_HUMAN	Y	48	ENSP00000380354:D48Y;ENSP00000268981:D48Y	ENSP00000268981:D48Y	D	-	1	0	SPATA22	3317500	0.726000	0.28059	1.000000	0.80357	0.833000	0.47200	0.667000	0.25112	2.638000	0.89438	0.563000	0.77884	GAC		0.328	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		11	562	1	0	1.67942e-08	0.00074312	5.99983e-07	11	562				
PCYOX1	51449	broad.mit.edu	37	2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	180					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGTAGTGTCGAAAAATTACT	0.423																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(538-540)Gaa>Taa		prenylcysteine oxidase 1							140.0	135.0	136.0					2																	70502134		2203	4300	6503	SO:0001587	stop_gained	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502134G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.538G>T	2.37:g.70502134G>T	ENSP00000387654:p.Glu180*					PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*	p.E180*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			4	566	+			180					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	ENST00000433351.2	37	c.538G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	36	5.695587	0.96802	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	.	.	.	5.4	5.4	0.78164	.	0.044521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.5204	17.9005	0.88902	0.0:0.0:1.0:0.0	.	.	.	.	X	103;103;103;180;180;103;102	.	ENSP00000264441:E180X	E	+	1	0	PCYOX1	70355638	1.000000	0.71417	0.965000	0.40720	0.958000	0.62258	9.581000	0.98210	2.811000	0.96726	0.555000	0.69702	GAA		0.423	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		12	557	1	0	6.40141e-05	6.40141e-05	0.00117365	12	557				
TGFB2	7042	broad.mit.edu	37	1	218578555	218578555	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:218578555C>A	ENST00000366930.4	+	2	858	c.391C>A	c.(391-393)Cga>Aga	p.R131R	TGFB2_ENST00000366929.4_Silent_p.R159R	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	131					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R131*(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGAATTGTTCGATTTGACGT	0.418																																						ENST00000366929.4																			1	Substitution - Nonsense(1)	p.R131*(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(475-477)Cga>Aga		transforming growth factor, beta 2							231.0	223.0	226.0					1																	218578555		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218578555C>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.391C>A	1.37:g.218578555C>A						TGFB2_ENST00000366930.4_Silent_p.R131R	p.R159R	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	3	942	+			131					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.475C>A	CCDS1521.1																																																																																				0.418	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		14	1075	1	0	1.49906e-05	0.000219431	0.000353665	14	1075				
NBR1	4077	broad.mit.edu	37	17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTGGTGTCCGCTACCAGTG	0.438																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(682-684)Cgc>Agc		neighbor of BRCA1 gene 1							147.0	138.0	141.0					17																	41341806		1919	4137	6056	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341806C>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.682C>A	17.37:g.41341806C>A	ENSP00000411250:p.Arg228Ser					NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S	p.R228S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	1141	+		Breast(137;0.00086)	228					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.682C>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752959	0.69648	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.054076	0.85682	D	0.000000	D	0.98893	0.9625	H	0.95850	3.73	0.50632	D	0.999887	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.967;1.0	D	0.98914	1.0781	10	0.62326	D	0.03	-12.2893	20.422	0.99049	0.0:1.0:0.0:0.0	.	207;228;228	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	228;207;228;228;228	ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S	ENSP00000343479:R228S	R	+	1	0	NBR1	38595332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.607000	0.61133	2.832000	0.97577	0.655000	0.94253	CGC		0.438	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		9	606	1	0	2.80697e-09	6.40141e-05	1.03231e-07	9	606				
CBWD1	55871	broad.mit.edu	37	9	172100	172100	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:172100G>T	ENST00000356521.4	-	4	499	c.411C>A	c.(409-411)acC>acA	p.T137T	CBWD1_ENST00000382393.1_3'UTR|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000377447.3_Silent_p.T137T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000314367.10_Silent_p.T101T	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	137							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTAATCCAGTGGTCTCTAACA	0.338																																						ENST00000377447.3																			0				kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.(409-411)acC>acA		COBW domain containing 1							171.0	178.0	176.0					9																	172100		2203	4297	6500	SO:0001819	synonymous_variant	55871						ATP binding|protein binding	g.chr9:172100G>T	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.411C>A	9.37:g.172100G>T						CBWD1_ENST00000314367.10_Silent_p.T101T|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000356521.4_Silent_p.T137T|CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000382393.1_3'UTR	p.T137T			Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	4	466	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	137					A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP	ENST00000356521.4	37	c.411C>A	CCDS6438.1																																																																																				0.338	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491		14	2005	1	0	3.59834e-05	3.59834e-05	0.000765197	14	2005				
PDE8A	5151	broad.mit.edu	37	15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GAGATTTCATCAAGATCAACT	0.363																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(229-231)Caa>Aaa		phosphodiesterase 8A							130.0	115.0	120.0					15																	85607643		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85607643C>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.229C>A	15.37:g.85607643C>A	ENSP00000311453:p.Gln77Lys					PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K	p.Q77K			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		3	481	+	Colorectal(223;0.227)		77					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.229C>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056234	0.36277	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70631	-0.5;-0.5;-0.46	5.65	4.73	0.59995	.	0.201377	0.43579	D	0.000552	T	0.58680	0.2139	L	0.29908	0.895	0.37679	D	0.92342	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.56817	-0.7916	10	0.23891	T	0.37	.	14.3705	0.66836	0.0:0.8508:0.1492:0.0	.	77;77	O60658-2;O60658	.;PDE8A_HUMAN	K	77	ENSP00000311453:Q77K;ENSP00000378056:Q77K;ENSP00000340679:Q77K	ENSP00000311453:Q77K	Q	+	1	0	PDE8A	83408647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.930000	0.48924	1.368000	0.46115	0.511000	0.50034	CAA		0.363	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		8	436	1	0	0.000274275	0.000274275	0.0039602	8	436				
HTR2C	3358	broad.mit.edu	37	X	114141360	114141360	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:114141360C>A	ENST00000276198.1	+	6	1487	c.759C>A	c.(757-759)acC>acA	p.T253T	HTR2C_ENST00000371950.3_Silent_p.R222R|HTR2C_ENST00000371951.1_Silent_p.T253T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	253					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T253T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACGGCCACACCGAGGAACCGC	0.512																																						ENST00000276198.1																			1	Substitution - coding silent(1)	p.T253T(1)	urinary_tract(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(757-759)acC>acA		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						234.0	215.0	222.0					X																	114141360		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141360C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.759C>A	X.37:g.114141360C>A						HTR2C_ENST00000371951.1_Silent_p.T253T|HTR2C_ENST00000371950.3_Silent_p.R222R	p.T253T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1487	+			253					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.759C>A	CCDS14564.1																																																																																				0.512	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		11	1170	1	0	0.000442599	0.000442599	0.00556767	11	1170				
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Intron	SNP	C	C	T	rs181386606		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:29976964C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.R44Q|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20317	0.001		0.0	False		,,,				2504	0.0					ENST00000376315.2																			1	Substitution - Missense(1)	p.R44Q(1)	large_intestine(1)	large_intestine(2)|lung(1)|prostate(1)	4						c.(130-132)cGa>cAa		defensin, beta 119		C	,GLN/ARG,	0,4406		0,0,2203	210.0	179.0	190.0		,131,	-7.4	0.0	20		190	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,44/89,	29976964	1,13005	2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976964C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1261G>A	20.37:g.29976964C>T						DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	p.R44Q	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	130	-	all_hematologic(12;0.158)		50					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.131G>A	CCDS13178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.890815	0.52014	0.0	1.16E-4	ENSG00000180483	ENST00000376315	T	0.12147	2.71	3.71	-7.43	0.01383	.	4.895910	0.00541	N	0.000227	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.17684	-1.0361	9	0.38643	T	0.18	8.8927	1.4233	0.02317	0.1537:0.2175:0.2377:0.3912	.	44	Q8N690-2	.	Q	44	ENSP00000365492:R44Q	ENSP00000365492:R44Q	R	-	2	0	DEFB119	29440625	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-2.121000	0.01322	-3.536000	0.00145	-0.251000	0.11542	CGA		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		12	492	0	0	0	0.00010058	0	12	492				
KLHL24	54800	broad.mit.edu	37	3	183388894	183388894	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.2	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000476808.1_Silent_p.R433R|KLHL24_ENST00000242810.6_Silent_p.R433R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	433						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTCAAATCGATGGACTGA	0.418																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1297-1299)Cga>Aga		kelch-like family member 24							223.0	210.0	214.0					3																	183388894		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183388894C>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1297C>A	3.37:g.183388894C>A						KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	p.R433R			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		7	1683	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		433					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.1297C>A	CCDS3246.1																																																																																				0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		10	658	1	0	2.17888e-05	0.000442599	0.00047966	10	658				
KRT24	192666	broad.mit.edu	37	17	38857542	38857542	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(703-705)gaG>gaA		keratin 24							52.0	48.0	49.0					17																	38857542		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857542C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.705G>A	17.37:g.38857542C>T							p.E235E	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			3	761	-		Breast(137;0.00526)	235			Coil 1B.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.705G>A	CCDS11372.1																																																																																				0.512	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		19	143	0	0	0	0.000132079	0	19	143				
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Nonsense_Mutation	SNP	G	G	T	rs543165988		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56020051G>T	ENST00000303059.3	+	1	376	c.376G>T	c.(376-378)Gga>Tga	p.G126*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(376-378)Gga>Tga		olfactory receptor, family 5, subfamily T, member 3							172.0	171.0	171.0					11																	56020051		2201	4295	6496	SO:0001587	stop_gained	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020051G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>T	11.37:g.56020051G>T	ENSP00000305403:p.Gly126*						p.G126*	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	376	+	Esophageal squamous(21;0.00448)		126					Q6IFC7	Nonsense_Mutation	SNP	ENST00000303059.3	37	c.376G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720470	0.15372	.	.	ENSG00000172489	ENST00000303059	.	.	.	4.55	2.59	0.31030	.	0.542212	0.15279	U	0.270784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	.	.	.	X	126	.	ENSP00000305403:G126X	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		8	793	1	0	0.000442599	0.000442599	0.00556767	8	793				
MSLNL	401827	broad.mit.edu	37	16	830540	830540	+	Intron	SNP	G	G	A	rs267604652		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:830540G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.P154L			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCACGGGTAGGTGAC	0.557																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(460-462)cCg>cTg		mesothelin-like							295.0	256.0	269.0					16																	830540		2178	4254	6432	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830540G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-378C>T	16.37:g.830540G>A						MSLNL_ENST00000442466.1_Intron	p.P154L			Q96KJ4	MSLNL_HUMAN			3	460	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.461C>T		.	.	.	.	.	.	.	.	.	.	G	6.230	0.410596	0.11812	.	.	ENSG00000162006	ENST00000293892	T	0.38722	1.12	1.3	0.3	0.15776	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25467	-1.0131	5	.	.	.	.	5.3392	0.15974	0.2155:0.0:0.7845:0.0	.	.	.	.	L	154	ENSP00000293892:P154L	.	P	-	2	0	MSLNL	770541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.165000	0.00282	0.115000	0.18071	0.391000	0.25812	CCG		0.557	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		6	645	0	0	0	3.59834e-05	0	6	645				
DBT	1629	broad.mit.edu	37	1	100672084	100672084	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:100672084G>T	ENST00000370132.4	-	9	1139	c.1126C>A	c.(1126-1128)Cgc>Agc	p.R376S		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	376					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.R376S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCTGGAGGCGGTTCAGTTCA	0.423																																						ENST00000370132.3																			1	Substitution - Missense(1)	p.R376S(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(1126-1128)Cgc>Agc		dihydrolipoamide branched chain transacylase E2							199.0	204.0	202.0					1																	100672084		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672084G>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1126C>A	1.37:g.100672084G>T	ENSP00000359151:p.Arg376Ser						p.R376S	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1139	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	376					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.1126C>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603745	0.87157	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.44083	0.93	5.84	5.84	0.93424	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.75020	0.88;0.985	T	0.66575	-0.5889	10	0.72032	D	0.01	-4.8811	20.1386	0.98045	0.0:0.0:1.0:0.0	.	195;376	F5H1F9;P11182	.;ODB2_HUMAN	S	195;376	ENSP00000359151:R376S	ENSP00000359151:R376S	R	-	1	0	DBT	100444672	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.348000	0.97062	2.767000	0.95098	0.561000	0.74099	CGC		0.423	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		12	1206	1	0	3.86212e-05	0.000673444	0.000778902	12	1206				
ZNFX1	57169	broad.mit.edu	37	20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	441							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGCCAGCGAACAAACTTC	0.448																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1321-1323)Cgc>Agc		zinc finger, NFX1-type containing 1							159.0	154.0	156.0					20																	47887028		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887028G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1321C>A	20.37:g.47887028G>T	ENSP00000379412:p.Arg441Ser					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1567	-			441					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1321C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160937	0.57368	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87256	-1.97;-2.23;-2.23;-0.93;-1.64	5.85	5.85	0.93711	.	0.215288	0.48286	D	0.000200	D	0.91855	0.7422	M	0.66939	2.045	0.58432	D	0.99999	D	0.76494	0.999	D	0.65140	0.932	D	0.88693	0.3210	10	0.20519	T	0.43	-23.2852	18.7272	0.91718	0.0:0.0:1.0:0.0	.	441	Q9P2E3	ZNFX1_HUMAN	S	441;441;441;441;441;245	ENSP00000360819:R441S;ENSP00000360817:R441S;ENSP00000379412:R441S;ENSP00000360809:R441S;ENSP00000413800:R245S	ENSP00000360809:R441S	R	-	1	0	ZNFX1	47320435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.651000	0.74372	2.773000	0.95371	0.655000	0.94253	CGC		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		10	706	1	0	2.17888e-05	0.000442599	0.00047966	10	706				
WWC2	80014	broad.mit.edu	37	4	184190214	184190214	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:184190214C>A	ENST00000403733.3	+	15	2497	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	766	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCATTTTATTCAATGATGTGT	0.448																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2296-2298)ttC>ttA		WW and C2 domain containing 2							170.0	170.0	170.0					4																	184190214		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184190214C>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2298C>A	4.37:g.184190214C>A	ENSP00000384222:p.Phe766Leu					WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L|WWC2_ENST00000506225.1_3'UTR	p.F766L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	15	2497	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	766			C2.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2298C>A	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170241	0.38315	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;D;T;T;T	0.97066	0.61;-4.23;0.61;0.61;0.61	5.35	2.49	0.30216	C2 calcium/lipid-binding domain, CaLB (1);	0.234157	0.37393	N	0.002115	D	0.92805	0.7712	L	0.33485	1.01	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.002;0.008;0.004	D	0.85874	0.1418	10	0.44086	T	0.13	-12.8872	8.3414	0.32245	0.0:0.625:0.0:0.375	.	766;766;717	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	766;668;717;766;448	ENSP00000384222:F766L;ENSP00000368205:F668L;ENSP00000425054:F717L;ENSP00000398577:F766L;ENSP00000427569:F448L	ENSP00000368205:F668L	F	+	3	2	WWC2	184427208	0.981000	0.34729	0.016000	0.15963	0.868000	0.49771	0.464000	0.21988	0.833000	0.34828	0.555000	0.69702	TTC		0.448	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		10	611	1	0	4.36969e-10	0.000151284	1.67603e-08	10	611				
IL13RA1	3597	broad.mit.edu	37	X	117925772	117925772	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	413					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGGAGGAAACCGACTCTGTAG	0.393																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(1237-1239)acC>acA		interleukin 13 receptor, alpha 1							195.0	169.0	178.0					X																	117925772		2203	4300	6503	SO:0001819	synonymous_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117925772C>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1239C>A	X.37:g.117925772C>A						IL13RA1_ENST00000371637.3_Silent_p.T212T	p.T413T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			11	1306	+			413					O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	ENST00000371666.3	37	c.1239C>A	CCDS14573.1																																																																																				0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		9	510	1	0	2.17888e-05	0.000442599	0.00047966	9	510				
ACACB	32	broad.mit.edu	37	12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A	rs199655635		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	361	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTAAACTTCCGGAGCTGCTG	0.517																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1081-1083)cCg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						231.0	247.0	242.0					12																	109610126		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109610126C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1082C>A	12.37:g.109610126C>A	ENSP00000341044:p.Pro361Gln					ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q	p.P361Q			O00763	ACACB_HUMAN			6	1201	+			361			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1082C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155578	0.94686	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.92545	-3.06;-3.06;-3.06	5.23	5.23	0.72850	ATP-grasp fold, subdomain 2 (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97700	1.0184	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	361	O00763	ACACB_HUMAN	Q	361	ENSP00000341044:P361Q;ENSP00000367079:P361Q;ENSP00000367085:P361Q	ENSP00000341044:P361Q	P	+	2	0	ACACB	108094509	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	CCG		0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		9	857	1	0	0.000442599	0.000442599	0.00556767	9	857				
ZNF431	170959	broad.mit.edu	37	19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	327					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAACCAGTCTTCAAC	0.403																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(979-981)Cag>Aag		zinc finger protein 431							59.0	63.0	61.0					19																	21366085		2203	4299	6502	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366085C>A	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.979C>A	19.37:g.21366085C>A	ENSP00000308578:p.Gln327Lys					ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.Q327K	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1123	+			327					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.979C>A	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	0.500	-0.871450	0.02570	.	.	ENSG00000196705	ENST00000311048	T	0.35421	1.31	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20210	0.0486	N	0.16266	0.395	0.09310	N	1	B	0.22851	0.076	B	0.23574	0.047	T	0.22977	-1.0201	9	0.32370	T	0.25	.	6.2054	0.20600	0.0:0.6793:0.3206:0.0	.	327	Q8TF32	ZN431_HUMAN	K	327	ENSP00000308578:Q327K	ENSP00000308578:Q327K	Q	+	1	0	ZNF431	21157925	0.000000	0.05858	0.456000	0.27044	0.446000	0.32137	-3.026000	0.00640	0.446000	0.26666	0.449000	0.29647	CAG		0.403	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		9	356	1	0	7.48243e-07	0.000442599	2.35076e-05	9	356				
PPIL4	85313	broad.mit.edu	37	6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(952-954)tCg>tAg		peptidylprolyl isomerase (cyclophilin)-like 4							177.0	179.0	178.0					6																	149842225		2202	4299	6501	SO:0001587	stop_gained	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149842225G>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.953C>A	6.37:g.149842225G>T	ENSP00000253329:p.Ser318*						p.S318*	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	10	985	-		Ovarian(120;0.0164)	318			RRM.		B2RD34|Q7Z3Q5	Nonsense_Mutation	SNP	ENST00000253329.2	37	c.953C>A	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846120	0.97016	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.52	5.52	0.82312	.	0.049439	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000253329:S318X	S	-	2	0	PPIL4	149883918	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.314000	0.96306	2.597000	0.87782	0.555000	0.69702	TCG		0.333	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			9	558	1	0	0.000673444	0.000673444	0.00785517	9	558				
SLC35G3	146861	broad.mit.edu	37	17	33521042	33521042	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:33521042C>A	ENST00000297307.5	-	1	370	c.285G>T	c.(283-285)ctG>ctT	p.L95L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	95	EamA 1.					integral component of membrane (GO:0016021)											CAGGAGTTCCCAGAAGGGGGT	0.602																																						ENST00000297307.5																			0											c.(283-285)ctG>ctT		solute carrier family 35, member G3							134.0	141.0	138.0					17																	33521042		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521042C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.285G>T	17.37:g.33521042C>A							p.L95L	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	370	-			95			DUF6 1.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.285G>T	CCDS11293.1																																																																																				0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		8	699	1	0	3.86212e-05	0.000673444	0.000778902	8	699				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		22	292	0	0	0	0.000375601	0	22	292				
FANCD2	2177	broad.mit.edu	37	3	10123132	10123132	+	Missense_Mutation	SNP	C	C	A	rs201184977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:10123132C>A	ENST00000419585.1	+	32	3369	c.3208C>A	c.(3208-3210)Cat>Aat	p.H1070N	FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000287647.3_Missense_Mutation_p.H1070N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1070					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGATTTTTCATGGGCTTTT	0.423			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3208-3210)Cat>Aat	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							216.0	213.0	214.0					3																	10123132		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10123132C>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3208C>A	3.37:g.10123132C>A	ENSP00000398754:p.His1070Asn					FANCD2OS_ENST00000524279.1_3'UTR|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000419585.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N	p.H1070N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	32	3301	+			1070					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3208C>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	6.470	0.454949	0.12283	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.75	3.04	0.35103	.	0.314743	0.37623	N	0.002011	T	0.33614	0.0869	L	0.39020	1.185	0.09310	N	0.999992	B;B	0.13145	0.007;0.007	B;B	0.14023	0.006;0.01	T	0.20107	-1.0285	10	0.14656	T	0.56	.	10.4471	0.44501	0.0:0.8063:0.0:0.1937	.	1070;1070	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1070	ENSP00000287647:H1070N;ENSP00000373318:H1070N;ENSP00000373317:H1070N;ENSP00000398754:H1070N	ENSP00000287647:H1070N	H	+	1	0	FANCD2	10098132	0.679000	0.27596	0.008000	0.14137	0.983000	0.72400	2.200000	0.42724	0.386000	0.24997	-0.125000	0.14975	CAT		0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			14	998	1	0	0.000151284	0.000151284	0.00252221	14	998				
SSTR5	6755	broad.mit.edu	37	16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTACTTCTTCGTGGTCATCCT	0.622																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(865-867)Gtg>Atg		somatostatin receptor 5	Octreotide(DB00104)						83.0	88.0	86.0					16																	1129733		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129733G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.865G>A	16.37:g.1129733G>A	ENSP00000293897:p.Val289Met					SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M	p.V289M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	953	+		Hepatocellular(780;0.00369)	289					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.865G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534704	0.45073	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.72505	-0.66;-0.66	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.381500	0.26654	N	0.023198	T	0.77974	0.4211	M	0.82323	2.585	0.42578	D	0.993203	D	0.53619	0.961	P	0.50162	0.633	T	0.81911	-0.0716	10	0.59425	D	0.04	.	12.2855	0.54789	0.0858:0.0:0.9142:0.0	.	289	P35346	SSR5_HUMAN	M	289	ENSP00000380680:V289M;ENSP00000293897:V289M	ENSP00000293897:V289M	V	+	1	0	SSTR5	1069734	1.000000	0.71417	0.922000	0.36590	0.009000	0.06853	4.534000	0.60622	2.202000	0.70862	0.561000	0.74099	GTG		0.622	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			32	164	0	0	0	0.000814825	0	32	164				
LAMA2	3908	broad.mit.edu	37	6	129636778	129636778	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:129636778C>A	ENST00000421865.2	+	25	3762	c.3713C>A	c.(3712-3714)cCa>cAa	p.P1238Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAAACTTCCAGAACAATTT	0.373																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3712-3714)cCa>cAa		laminin, alpha 2							103.0	100.0	101.0					6																	129636778		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129636778C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3713C>A	6.37:g.129636778C>A	ENSP00000400365:p.Pro1238Gln						p.P1238Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	25	3762	+			1238			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3713C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617032	0.87359	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.73258	-0.73	5.76	5.76	0.90799	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86719	0.1941	10	0.87932	D	0	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	1238;1238	A6NF00;P24043	.;LAMA2_HUMAN	Q	1238	ENSP00000400365:P1238Q	ENSP00000346769:P1238Q	P	+	2	0	LAMA2	129678471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.402000	0.79972	2.871000	0.98454	0.655000	0.94253	CCA		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	307	1	0	0.000157383	0.000157383	0.00254253	7	307				
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1351-1353)Cgt>Agt		SAM domain and HD domain 1							191.0	183.0	185.0					20																	35533826		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35533826G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1351C>A	20.37:g.35533826G>T	ENSP00000262878:p.Arg451Ser						p.R451S	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			12	1550	-		Myeloproliferative disorder(115;0.00878)	451					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1351C>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144911	0.77888	.	.	ENSG00000101347	ENST00000262878	D	0.96830	-4.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99533	1.0961	10	0.87932	D	0	-9.9304	18.2234	0.89909	0.0:0.0:1.0:0.0	.	451	Q9Y3Z3	SAMH1_HUMAN	S	451	ENSP00000262878:R451S	ENSP00000262878:R451S	R	-	1	0	SAMHD1	34967240	1.000000	0.71417	0.300000	0.25030	0.629000	0.37895	7.652000	0.83633	2.644000	0.89710	0.462000	0.41574	CGT		0.348	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		13	749	1	0	0.000219431	0.000219431	0.00342116	13	749				
KLHDC2	23588	broad.mit.edu	37	14	50241390	50241390	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:50241390C>A	ENST00000298307.5	+	3	1206	c.345C>A	c.(343-345)acC>acA	p.T115T	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000554589.1_Silent_p.T115T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	115						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGGCAATACCAATAAGGTTA	0.403																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(343-345)acC>acA		kelch domain containing 2							231.0	220.0	224.0					14																	50241390		2203	4300	6503	SO:0001819	synonymous_variant	23588					nucleus	protein binding	g.chr14:50241390C>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.345C>A	14.37:g.50241390C>A						KLHDC2_ENST00000554589.1_Silent_p.T115T|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000553538.1_3'UTR	p.T115T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			3	1206	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		115					B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	c.345C>A	CCDS9693.1																																																																																				0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			10	853	1	0	5.50884e-06	0.00010058	0.000142319	10	853				
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0					ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(967-969)gaC>gaT		HHIP-like 1		C	,	6,4400		0,6,2197	242.0	242.0	242.0		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100123403C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	14.37:g.100123403C>T						HHIPL1_ENST00000357223.2_Silent_p.D323D	p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			3	1067	+		Melanoma(154;0.128)	323					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.969C>T	CCDS45162.1																																																																																				0.512	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		154	1208	0	0	0	0.000781405	0	154	1208				
WSB1	26118	broad.mit.edu	37	17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000578312.1_3'UTR	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	35					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398																																						ENST00000262394.2																			0				lung(3)	3						c.(103-105)Cgt>Agt		WD repeat and SOCS box containing 1							249.0	239.0	243.0					17																	25628876		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25628876C>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.103C>A	17.37:g.25628876C>A	ENSP00000262394:p.Arg35Ser					WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S	p.R35S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	419	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		35					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.103C>A	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368309	0.42003	.	.	ENSG00000109046	ENST00000262394	T	0.43294	0.95	5.95	3.89	0.44902	.	0.455607	0.22917	N	0.054078	T	0.32133	0.0819	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.004;0.033	B;B	0.19946	0.004;0.027	T	0.04635	-1.0937	10	0.42905	T	0.14	-15.6797	15.5864	0.76485	0.0:0.7304:0.2696:0.0	.	35;35	B4DTL1;Q9Y6I7	.;WSB1_HUMAN	S	35	ENSP00000262394:R35S	ENSP00000262394:R35S	R	+	1	0	WSB1	22653003	0.986000	0.35501	1.000000	0.80357	0.984000	0.73092	1.896000	0.39789	0.792000	0.33850	0.655000	0.94253	CGT		0.398	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		12	857	1	0	0.000308642	0.000308642	0.00435582	12	857				
TTK	7272	broad.mit.edu	37	6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000369798.2	+	4	575	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	155					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGAACTGTCACAAGGTAAT	0.303																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(463-465)tCa>tAa		TTK protein kinase							60.0	53.0	55.0					6																	80718204		2203	4298	6501	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80718204C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.464C>A	6.37:g.80718204C>A	ENSP00000358813:p.Ser155*					TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000369798.2_Nonsense_Mutation_p.S155*	p.S155*			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	4	1293	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	155					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.464C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	43	10.343241	0.99387	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000504040	.	.	.	6.16	6.16	0.99307	.	0.060757	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000230510:S155X	S	+	2	0	TTK	80774923	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.998000	0.63927	2.937000	0.99478	0.650000	0.86243	TCA		0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			9	405	1	0	1.58986e-06	0.000673444	4.62318e-05	9	405				
NSD1	64324	broad.mit.edu	37	5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000511258.1_Splice_Site_p.S10S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	33					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCCCTTTCGGTAATGGTCA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(97-99)Ggt>Tgt		nuclear receptor binding SET domain protein 1							134.0	123.0	127.0					5																	176562201		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562201G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.97G>T	5.37:g.176562201G>T	ENSP00000395929:p.Gly33Cys	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000354179.4_Splice_Site_p.S10_splice|NSD1_ENST00000511258.1_Splice_Site_p.S10_splice|NSD1_ENST00000347982.4_Splice_Site_p.S10_splice	p.G33C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	142	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	33					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.97G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712868	0.48517	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.98075	-4.08;-4.7	5.23	2.44	0.29823	.	0.132495	0.34802	N	0.003666	D	0.95452	0.8523	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.64776	0.929;0.85;0.84	D	0.93176	0.6570	10	0.41790	T	0.15	.	9.6226	0.39730	0.0744:0.2682:0.6574:0.0	.	33;33;33	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	33	ENSP00000395929:G33C;ENSP00000354310:G33C	ENSP00000354310:G33C	G	+	1	0	NSD1	176494807	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.600000	0.67599	0.339000	0.23719	0.555000	0.69702	GGT		0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	577	1	0	2.31682e-05	0.000308642	0.000501203	12	577				
TEKT4	150483	broad.mit.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		20016	0.001		0.0	False		,,,				2504	0.0					ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(973-975)gCg>gTg		tektin 4							194.0	161.0	172.0					2																	95541370		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95541370C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.974C>T	2.37:g.95541370C>T	ENSP00000295201:p.Ala325Val					AC097374.2_ENST00000568768.1_RNA	p.A325V	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			5	1111	+			325						Missense_Mutation	SNP	ENST00000295201.4	37	c.974C>T	CCDS2005.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	TEKT4	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		33	278	0	0	0	0.000339439	0	33	278				
HHIP	64399	broad.mit.edu	37	4	145636516	145636516	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:145636516G>T	ENST00000296575.3	+	10	2267	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	538					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTCTGTCTCGGCACTAGTGG	0.418																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1612-1614)Ggc>Tgc		hedgehog interacting protein							119.0	110.0	113.0					4																	145636516		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145636516G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1612G>T	4.37:g.145636516G>T	ENSP00000296575:p.Gly538Cys						p.G538C	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	10	2267	+	all_hematologic(180;0.151)		538					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1612G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199116	0.94997	.	.	ENSG00000164161	ENST00000296575	T	0.06933	3.24	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09400	-1.0676	10	0.87932	D	0	-11.7533	20.6243	0.99512	0.0:0.0:1.0:0.0	.	538	Q96QV1	HHIP_HUMAN	C	538	ENSP00000296575:G538C	ENSP00000296575:G538C	G	+	1	0	HHIP	145855966	1.000000	0.71417	0.828000	0.32881	0.968000	0.65278	9.187000	0.94912	2.879000	0.98667	0.650000	0.86243	GGC		0.418	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			9	559	1	0	0.000673444	0.000673444	0.00785517	9	559				
CLEC18B	497190	broad.mit.edu	37	16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1258-1260)cTg>cAg		C-type lectin domain family 18, member B							126.0	112.0	117.0					16																	74443519		2196	4297	6493	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443519A>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1259T>A	16.37:g.74443519A>T	ENSP00000341051:p.Leu420Gln						p.L420Q	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			12	1380	-			420			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1259T>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265272	0.59431	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.60040	0.22	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.101710	0.40908	D	0.000981	T	0.70133	0.3189	M	0.76727	2.345	0.29629	N	0.845598	D;D	0.64830	0.994;0.994	D;D	0.65323	0.934;0.913	T	0.67511	-0.5652	10	0.87932	D	0	.	8.5986	0.33732	1.0:0.0:0.0:0.0	.	411;420	C9JSV1;Q6UXF7	.;CL18B_HUMAN	Q	411;420	ENSP00000341051:L420Q	ENSP00000341051:L420Q	L	-	2	0	CLEC18B	73001020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	1.519000	0.48950	0.352000	0.21897	CTG		0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		20	361	0	0	0	0.000184323	0	20	361				
MORC2	22880	broad.mit.edu	37	22	31328956	31328956	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2_ENST00000215862.4_Silent_p.A752A|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	814						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2254-2256)gcC>gcT		MORC family CW-type zinc finger 2							285.0	256.0	266.0					22																	31328956		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31328956G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2442C>T	22.37:g.31328956G>A						MORC2_ENST00000397641.2_Silent_p.A814A	p.A752A	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			23	3619	-			814					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.2256C>T																																																																																					0.572	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		154	658	0	0	0	0.000781405	0	154	658				
KIAA0430	9665	broad.mit.edu	37	16	15719310	15719310	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000602337.1_Silent_p.S621S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	624					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGGCACTGGAAGATTGTT	0.368																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(1870-1872)tcC>tcA		KIAA0430							123.0	118.0	120.0					16																	15719310		1835	4094	5929	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15719310G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1872C>A	16.37:g.15719310G>T						KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000540441.2_Intron	p.S624S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			8	2078	-			623					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.1872C>A	CCDS10562.2																																																																																				0.368	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	603	1	0	6.40141e-05	6.40141e-05	0.00117365	8	603				
DCAF6	55827	broad.mit.edu	37	1	167921055	167921055	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:167921055C>A	ENST00000312263.6	+	2	319	c.115C>A	c.(115-117)Caa>Aaa	p.Q39K	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K|DCAF6_ENST00000367840.3_Missense_Mutation_p.Q39K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	39					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGAATTTATCCAAAGATTAAA	0.303																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(115-117)Caa>Aaa		DDB1 and CUL4 associated factor 6							48.0	52.0	51.0					1																	167921055		2201	4294	6495	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167921055C>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.115C>A	1.37:g.167921055C>A	ENSP00000311949:p.Gln39Lys					DCAF6_ENST00000312263.6_Missense_Mutation_p.Q39K|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K	p.Q39K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			2	209	+			39					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.115C>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234090	0.79688	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80738	-1.41;0.0;-1.41;-1.41	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.120335	0.56097	D	0.000022	T	0.80618	0.4657	L	0.27053	0.805	0.80722	D	1.000000	P;D;D;D	0.67145	0.924;0.982;0.987;0.996	P;D;P;D	0.72982	0.9;0.968;0.831;0.979	T	0.81667	-0.0829	9	0.45353	T	0.12	.	17.9178	0.88957	0.0:1.0:0.0:0.0	.	39;39;39;39	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	K	39	ENSP00000356817:Q39K;ENSP00000396238:Q39K;ENSP00000311949:Q39K;ENSP00000356814:Q39K	ENSP00000311949:Q39K	Q	+	1	0	DCAF6	166187679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.524000	0.85096	0.557000	0.71058	CAA		0.303	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		8	766	1	0	6.40141e-05	6.40141e-05	0.00117365	8	766				
POLQ	10721	broad.mit.edu	37	3	121192257	121192257	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121192257G>T	ENST00000264233.5	-	21	6611	c.6483C>A	c.(6481-6483)acC>acA	p.T2161T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2161					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCCTCTTCTGGTAGAACCCA	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6481-6483)acC>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							221.0	212.0	215.0					3																	121192257		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192257G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6483C>A	3.37:g.121192257G>T							p.T2161T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6611	-			2161					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.6483C>A	CCDS33833.1																																																																																				0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		11	1037	1	0	0.00010058	0.00010058	0.00173709	11	1037				
HECTD4	283450	broad.mit.edu	37	12	112708208	112708208	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:112708208C>A	ENST00000430131.2	-	11	1847	c.702G>T	c.(700-702)gcG>gcT	p.A234A	HECTD4_ENST00000550722.1_Silent_p.A522A|HECTD4_ENST00000377560.5_Silent_p.A484A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	234					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTATGCACATCGCACCAACGT	0.433																																						ENST00000550722.1																			0											c.(1564-1566)gcG>gcT		HECT domain containing E3 ubiquitin protein ligase 4							302.0	301.0	301.0					12																	112708208		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112708208C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.702G>T	12.37:g.112708208C>A						HECTD4_ENST00000430131.2_Silent_p.A234A|HECTD4_ENST00000377560.5_Silent_p.A484A	p.A522A	NM_001109662.3	NP_001103132.3					12	1961	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1566G>T																																																																																					0.433	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		9	917	1	0	0.00010058	0.00010058	0.00173709	9	917				
ASPM	259266	broad.mit.edu	37	1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1347	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTATTTTGAACTTTTTCC	0.289																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4039-4041)Caa>Aaa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							114.0	123.0	120.0					1																	197086945		2202	4298	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197086945G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4039C>A	1.37:g.197086945G>T	ENSP00000356379:p.Gln1347Lys					ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K	p.Q1347K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			17	4295	-			1347			IQ 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4039C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569453	0.13560	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.70282	0.3;-0.47;-0.47	5.72	4.79	0.61399	.	0.624908	0.15769	N	0.245535	T	0.67382	0.2887	M	0.76574	2.34	0.09310	N	1	B;B	0.27765	0.001;0.188	B;B	0.22880	0.003;0.042	T	0.55425	-0.8143	10	0.15952	T	0.53	.	12.3172	0.54964	0.0:0.0:0.6346:0.3654	.	1347;1347	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	1347;1347;597	ENSP00000356379:Q1347K;ENSP00000294732:Q1347K;ENSP00000356378:Q597K	ENSP00000294732:Q1347K	Q	-	1	0	ASPM	195353568	0.978000	0.34361	0.019000	0.16419	0.325000	0.28411	2.287000	0.43505	1.384000	0.46424	0.557000	0.71058	CAA		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	798	1	0	0.00010058	0.00010058	0.00173709	12	798				
DNAJB9	4189	broad.mit.edu	37	7	108212278	108212278	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:108212278G>T	ENST00000249356.3	+	2	654	c.108G>T	c.(106-108)tcG>tcT	p.S36S	THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank|DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGCCAAAATCGGCATCAGAGC	0.413																																						ENST00000249356.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(106-108)tcG>tcT		DnaJ (Hsp40) homolog, subfamily B, member 9							104.0	113.0	110.0					7																	108212278		2203	4300	6503	SO:0001819	synonymous_variant	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212278G>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.108G>T	7.37:g.108212278G>T						DNAJB9_ENST00000465725.1_3'UTR	p.S36S	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN			2	654	+			36			J.			Silent	SNP	ENST00000249356.3	37	c.108G>T	CCDS5752.1																																																																																				0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			8	632	1	0	0.000274275	0.000274275	0.0039602	8	632				
ANKEF1	63926	broad.mit.edu	37	20	10025144	10025144	+	Missense_Mutation	SNP	G	G	T	rs139520957		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:10025144G>T	ENST00000378380.3	+	4	978	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	217							calcium ion binding (GO:0005509)										ATTTGACAACGACAGGCATCA	0.413																																						ENST00000378380.3																			0											c.(649-651)Gac>Tac		ankyrin repeat and EF-hand domain containing 1							228.0	205.0	213.0					20																	10025144		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10025144G>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.649G>T	20.37:g.10025144G>T	ENSP00000367631:p.Asp217Tyr					ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	p.D217Y	NM_198798.1	NP_942093.1					4	978	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.649G>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349970	0.41599	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.67698	-0.28;-0.28	5.34	4.39	0.52855	Ankyrin repeat-containing domain (3);	0.544786	0.22457	N	0.059809	T	0.66167	0.2762	L	0.39692	1.235	0.29151	N	0.878367	P	0.49253	0.921	P	0.49887	0.625	T	0.64445	-0.6406	10	0.48119	T	0.1	-1.6673	14.3094	0.66405	0.0717:0.0:0.9283:0.0	.	217	Q9NU02	ANKR5_HUMAN	Y	217	ENSP00000367644:D217Y;ENSP00000367631:D217Y	ENSP00000367631:D217Y	D	+	1	0	ANKRD5	9973144	0.999000	0.42202	0.089000	0.20774	0.105000	0.19272	4.505000	0.60421	1.395000	0.46643	0.655000	0.94253	GAC		0.413	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		12	675	1	0	0.000219431	0.000219431	0.00342116	12	675				
SLC25A12	8604	broad.mit.edu	37	2	172712428	172712428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:172712428C>A	ENST00000422440.2	-	4	278	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	RNU6-182P_ENST00000516970.1_RNA|SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	81					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAACAGATTCAAATGCCAAA	0.388																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(241-243)Gaa>Taa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						148.0	150.0	149.0					2																	172712428		2203	4300	6503	SO:0001587	stop_gained	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172712428C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.241G>T	2.37:g.172712428C>A	ENSP00000388658:p.Glu81*					SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	p.E81*	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		4	278	-			81					B3KR64|Q96AM8	Nonsense_Mutation	SNP	ENST00000422440.2	37	c.241G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791463	0.90367	.	.	ENSG00000115840	ENST00000422440	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.6969	19.6978	0.96034	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000388658:E81X	E	-	1	0	SLC25A12	172420674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.649000	0.89929	0.650000	0.86243	GAA		0.388	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		11	837	1	0	1.08611e-07	6.40141e-05	3.69041e-06	11	837				
RBM25	58517	broad.mit.edu	37	14	73578904	73578904	+	Silent	SNP	C	C	A	rs374029666		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:73578904C>A	ENST00000261973.7	+	17	2622	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	RBM25_ENST00000527432.1_Silent_p.I779I|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	779	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAAGAAAATCATAGAATATA	0.303																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2335-2337)atC>atA		RNA binding motif protein 25							133.0	145.0	141.0					14																	73578904		2203	4297	6500	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578904C>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2337C>A	14.37:g.73578904C>A						RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.I779I	p.I779I	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	17	2622	+			779			PWI.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2337C>A	CCDS32113.1																																																																																				0.303	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		12	974	1	0	6.40141e-05	6.40141e-05	0.00117365	12	974				
TTC3	7267	broad.mit.edu	37	21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1354-1356)ttC>ttA		tetratricopeptide repeat domain 3							80.0	86.0	84.0					21																	38501361		2203	4296	6499	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38501361C>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1356C>A	21.37:g.38501361C>A	ENSP00000381981:p.Phe452Leu					TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L	p.F452L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			16	4103	+		Myeloproliferative disorder(46;0.0412)	452					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1356C>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270881	0.10349	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.38722	1.52;1.52;1.52;3.27;1.12;3.27;3.27	5.33	0.0492	0.14288	.	1.304020	0.05165	N	0.498569	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999995	B;B	0.14012	0.0;0.009	B;B	0.09377	0.0;0.004	T	0.18398	-1.0338	10	0.11485	T	0.65	10.7736	2.9223	0.05773	0.2841:0.3761:0.2536:0.0862	.	142;452	B4DSZ9;P53804	.;TTC3_HUMAN	L	452;452;434;452;142;452;452	ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L	ENSP00000346791:F452L	F	+	3	2	TTC3	37423231	0.076000	0.21285	0.369000	0.25952	0.767000	0.43475	-0.036000	0.12185	0.323000	0.23307	0.655000	0.94253	TTC		0.299	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			8	380	1	0	0.000157383	0.000157383	0.00254253	8	380				
MFN1	55669	broad.mit.edu	37	3	179083014	179083014	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.e7+1		mitofusin 1							38.0	40.0	40.0					3																	179083014		2201	4300	6501	SO:0001630	splice_region_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179083014G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.753+1G>A	3.37:g.179083014G>A						MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site		NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	879	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)							B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Splice_Site	SNP	ENST00000471841.1	37		CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372164	0.82573	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFN1	180565708	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.414000	0.97362	2.649000	0.89929	0.563000	0.77884	.		0.318	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	Intron	30	202	0	0	0	0.000279167	0	30	202				
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						ENST00000285039.7																			5	Substitution - Missense(5)	p.V1703A(5)	endometrium(2)|kidney(2)|lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5107-5109)gTc>gCc		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	p.V1703A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5407	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	180	0	0	0	0.000308642	0	6	180				
CEP70	80321	broad.mit.edu	37	3	138224205	138224205	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:138224205G>T	ENST00000264982.3	-	13	1419	c.1153C>A	c.(1153-1155)Caa>Aaa	p.Q385K	CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	385				Q -> R (in Ref. 2; BAH13584). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCACAATCTTGAACAAGATCT	0.358																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(1153-1155)Caa>Aaa		centrosomal protein 70kDa							122.0	125.0	124.0					3																	138224205		2203	4299	6502	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138224205G>T	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1153C>A	3.37:g.138224205G>T	ENSP00000264982:p.Gln385Lys					CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K	p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			13	1419	-			385					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.1153C>A	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729538	0.30684	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.14	4.27	0.50696	.	0.301827	0.28815	N	0.014047	T	0.22898	0.0553	L	0.57536	1.79	0.09310	N	1	B;B;P;B	0.35575	0.073;0.143;0.51;0.143	B;B;B;B	0.31290	0.022;0.056;0.127;0.056	T	0.15178	-1.0446	10	0.39692	T	0.17	-0.9407	9.7105	0.40243	0.0938:0.0:0.9062:0.0	.	233;365;385;385	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	K	385;365;233;385;367;385	ENSP00000264982:Q385K;ENSP00000444128:Q365K;ENSP00000417821:Q233K;ENSP00000419231:Q385K;ENSP00000419833:Q367K;ENSP00000417465:Q385K	ENSP00000264982:Q385K	Q	-	1	0	CEP70	139706895	0.999000	0.42202	0.034000	0.17996	0.002000	0.02628	5.655000	0.67981	1.546000	0.49388	-0.136000	0.14681	CAA		0.358	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		13	870	1	0	2.68362e-12	0.00010058	1.04862e-10	13	870				
BLM	641	broad.mit.edu	37	15	91306341	91306341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2026-2028)atC>atA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							118.0	123.0	121.0					15																	91306341		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91306341C>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2028C>A	15.37:g.91306341C>A						BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	p.I676I	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		8	2146	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		676			Helicase ATP-binding.		Q52M96	Silent	SNP	ENST00000355112.3	37	c.2028C>A	CCDS10363.1																																																																																				0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			13	704	1	0	0.000132079	0.000132079	0.00227481	13	704				
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4																			0				lung(4)	4						c.(145-147)Cgg>Agg		oncomodulin 2							173.0	149.0	157.0					7																	97617777		2203	4300	6503	SO:0001819	synonymous_variant	4951						calcium ion binding	g.chr7:97617777G>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>A	7.37:g.97617777G>T						OCM2_ENST00000473987.2_5'UTR	p.R49R	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			2	236	-			49			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	37	c.145C>A	CCDS5653.1																																																																																				0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		9	494	1	0	3.86212e-05	0.000673444	0.000778902	9	494				
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Silent	SNP	C	C	A	rs376031317		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:6913826C>A	ENST00000312053.4	+	11	1322	c.1285C>A	c.(1285-1287)Cgg>Agg	p.R429R	EMR1_ENST00000450315.3_Silent_p.R252R|EMR1_ENST00000381407.5_Silent_p.R288R|EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000381404.4_Silent_p.R377R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1285-1287)Cgg>Agg		egf-like module containing, mucin-like, hormone receptor-like 1		C		2,4404	4.2+/-10.8	0,2,2201	139.0	127.0	131.0		1285	2.5	0.0	19		131	0,8600		0,0,4300	no	coding-synonymous	EMR1	NM_001974.3		0,2,6501	AA,AC,CC		0.0,0.0454,0.0154		429/887	6913826	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913826C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1285C>A	19.37:g.6913826C>A						EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000450315.3_Silent_p.R252R|EMR1_ENST00000381404.4_Silent_p.R377R|EMR1_ENST00000381407.5_Silent_p.R288R	p.R429R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			11	1322	+	all_hematologic(4;0.166)		429			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1285C>A	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			10	578	1	0	0.000673444	0.000673444	0.00785517	10	578				
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A	rs561539227		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)Cga>Aga		zinc finger protein 502							164.0	170.0	168.0					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A						ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	p.R305R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1169	+			305						Silent	SNP	ENST00000296091.4	37	c.913C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		14	862	1	0	0.000308642	0.000308642	0.00435582	14	862				
SEC11A	23478	broad.mit.edu	37	15	85224008	85224008	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000558134.1_Silent_p.R123R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TAGAGGCCTCGGTCATCAACC	0.408																																						ENST00000268220.7																			0				ovary(1)	1						c.(367-369)Cga>Aga		SEC11 homolog A (S. cerevisiae)							216.0	197.0	203.0					15																	85224008		1860	4094	5954	SO:0001819	synonymous_variant	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85224008G>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.367C>A	15.37:g.85224008G>T						SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000560266.1_Silent_p.R123R	p.R123R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		4	1007	-			123					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	c.367C>A	CCDS45340.1																																																																																				0.408	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		10	746	1	0	1.49906e-05	0.000219431	0.000353665	10	746				
BPIFB4	149954	broad.mit.edu	37	20	31671235	31671235	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:31671235G>T	ENST00000375483.3	+	3	232	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	78						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATATACCAACGGCAAAAAACT	0.478																																						ENST00000375483.3																			0											c.(232-234)Ggc>Tgc		BPI fold containing family B, member 4							89.0	84.0	86.0					20																	31671235		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671235G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.232G>T	20.37:g.31671235G>T	ENSP00000364632:p.Gly78Cys						p.G78C	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	232	+			78					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.232G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	g	10.59	1.391826	0.25118	.	.	ENSG00000186191	ENST00000375483	T	0.02085	4.46	3.02	3.02	0.34903	.	0.000000	0.37577	U	0.002038	T	0.06005	0.0156	L	0.32530	0.975	0.30669	N	0.753545	D	0.89917	1.0	D	0.87578	0.998	T	0.02238	-1.1190	10	0.87932	D	0	-11.4942	9.6335	0.39793	0.0:0.0:1.0:0.0	.	78	P59827	BPIB4_HUMAN	C	78	ENSP00000364632:G78C	ENSP00000364632:G78C	G	+	1	0	BPIFB4	31134896	0.996000	0.38824	0.922000	0.36590	0.015000	0.08874	2.891000	0.48617	1.675000	0.50919	0.457000	0.33378	GGC		0.478	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		14	647	1	0	9.31168e-06	0.000151284	0.000235695	14	647				
SEC62	7095	broad.mit.edu	37	3	169700520	169700520	+	Silent	SNP	C	C	A	rs180699945		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:169700520C>A	ENST00000337002.4	+	4	335	c.277C>A	c.(277-279)Cga>Aga	p.R93R	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Silent_p.R93R	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	93					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTTTCACCGAGCCCTAAA	0.323																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(277-279)Cga>Aga		SEC62 homolog (S. cerevisiae)							68.0	80.0	76.0					3																	169700520		2186	4297	6483	SO:0001819	synonymous_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700520C>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.277C>A	3.37:g.169700520C>A						SEC62_ENST00000480708.1_Silent_p.R93R|SEC62-AS1_ENST00000479626.1_RNA	p.R93R	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	335	+			93					D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	c.277C>A	CCDS3210.1																																																																																				0.323	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			9	835	1	0	1.58986e-06	0.000673444	4.62318e-05	9	835				
USP34	9736	broad.mit.edu	37	2	61412663	61412663	+	IGR	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:61412663G>T	ENST00000398571.2	-	0	11357				AHSA2_ENST00000410073.1_Silent_p.L34L|AHSA2_ENST00000394457.3_Silent_p.L34L|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGTGGCACTGGGTGTAAGGA	0.458																																						ENST00000394457.2																			0				breast(1)|lung(3)|prostate(1)	5						c.(100-102)ctG>ctT		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							161.0	147.0	152.0					2																	61412663		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61412663G>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61412663G>T						AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L	p.L34L	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		4	1845	+			196					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.102G>T	CCDS42686.1																																																																																				0.458	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			10	547	1	0	2.17888e-05	0.000442599	0.00047966	10	547				
USP9X	8239	broad.mit.edu	37	X	41045841	41045841	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.8	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1210					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S1203S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCCATCATCCGAGTGCATGC	0.403																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			1	Substitution - coding silent(1)	p.S1203S(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3628-3630)tcC>tcA		ubiquitin specific peptidase 9, X-linked							205.0	183.0	190.0					X																	41045841		2203	4300	6503	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41045841C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3630C>A	X.37:g.41045841C>A						USP9X_ENST00000378308.2_Silent_p.S1210S	p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			24	4263	+			1210					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3630C>A	CCDS43930.1																																																																																				0.403	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	705	1	0	3.86212e-05	0.000673444	0.000778902	8	705				
GALNTL5	168391	broad.mit.edu	37	7	151716785	151716785	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:151716785C>A	ENST00000392800.2	+	9	1485	c.1231C>A	c.(1231-1233)Cgc>Agc	p.R411S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	411					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R411C(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1231-1233)Cgc>Agc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							111.0	107.0	108.0					7																	151716785		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151716785C>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1231C>A	7.37:g.151716785C>A	ENSP00000376548:p.Arg411Ser					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	9	1485	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	411					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1231C>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.373640	0.00207	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.12774	2.65;2.65	4.91	3.75	0.43078	.	0.461817	0.20658	N	0.088078	T	0.01730	0.0055	N	0.00029	-2.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39800	-0.9596	10	0.02654	T	1	.	8.7063	0.34356	0.8032:0.1968:0.0:0.0	.	162;411	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	S	411	ENSP00000392582:R411S;ENSP00000376548:R411S	ENSP00000376548:R411S	R	+	1	0	GALNTL5	151347718	0.259000	0.24043	0.003000	0.11579	0.001000	0.01503	1.930000	0.40124	0.880000	0.35969	-0.275000	0.10095	CGC		0.423	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		11	467	1	0	0.000219431	0.000219431	0.00342116	11	467				
GTF2H2C	728340	broad.mit.edu	37	5	68875685	68875685	+	Missense_Mutation	SNP	C	C	A	rs551310033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68875685C>A	ENST00000510979.1	+	11	946	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	GTF2H2 family member C	251					nucleotide-excision repair (GO:0006289)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	core TFIIH complex (GO:0000439)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)	2						CTCACTTATTCGTATGGGTAA	0.308																																						ENST00000510979.1																			0				large_intestine(1)|lung(1)	2						c.(751-753)Cgt>Agt		general transcription factor IIH, polypeptide 2C							180.0	196.0	191.0					5																	68875685		2197	4295	6492	SO:0001583	missense	728340				DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr5:68875685C>A		CCDS43325.1	5q13.2	2014-03-28	2014-03-28		ENSG00000183474	ENSG00000183474			31394	protein-coding gene	gene with protein product			"""general transcription factor IIH, polypeptide 2C"""				Standard	NM_001098728		Approved		uc003jwz.4	Q6P1K8	OTTHUMG00000162365	ENST00000510979.1:c.751C>A	5.37:g.68875685C>A	ENSP00000422907:p.Arg251Ser					GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	p.R251S	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN			11	946	+			251					A6NED9|A8K8J6|B2RCU4|B7ZW39	Missense_Mutation	SNP	ENST00000510979.1	37	c.751C>A	CCDS43325.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455751	0.63401	.	.	ENSG00000183474	ENST00000510979;ENST00000380729;ENST00000508344;ENST00000507595	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	2.83	2.83	0.33086	Ssl1-like (1);	0.111886	0.64402	D	0.000007	T	0.49813	0.1579	M	0.86178	2.8	0.80722	D	1	P	0.43662	0.814	P	0.53518	0.728	T	0.56312	-0.8000	9	.	.	.	-0.779	11.5675	0.50813	0.0:1.0:0.0:0.0	.	251	Q6P1K8	T2H2L_HUMAN	S	251;251;194;234	ENSP00000422907:R251S;ENSP00000370105:R251S;ENSP00000423952:R194S;ENSP00000427456:R234S	.	R	+	1	0	GTF2H2C	68911441	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.622000	0.74233	1.907000	0.55213	0.549000	0.68633	CGT		0.308	GTF2H2C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368637.3	NM_001098728		15	1492	1	0	5.18039e-06	0.000157383	0.000141431	15	1492				
CGNL1	84952	broad.mit.edu	37	15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	380	Head.		T -> P (in dbSNP:rs1280395). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}.			myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAATTAATACAGATGACAGG	0.443																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1138-1140)aCa>aAa		cingulin-like 1							75.0	79.0	77.0					15																	57731336		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731336C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1139C>A	15.37:g.57731336C>A	ENSP00000281282:p.Thr380Lys						p.T380K	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1217	+			380		T -> P (in dbSNP:rs1280395).	Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1139C>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322702	0.23994	.	.	ENSG00000128849	ENST00000281282	T	0.40476	1.03	5.79	4.88	0.63580	.	0.129534	0.35646	N	0.003062	T	0.23806	0.0576	N	0.03608	-0.345	0.21105	N	0.99979	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	10	0.87932	D	0	-8.9807	14.9253	0.70871	0.0:0.9316:0.0:0.0684	.	380	Q0VF96	CGNL1_HUMAN	K	380	ENSP00000281282:T380K	ENSP00000281282:T380K	T	+	2	0	CGNL1	55518628	0.941000	0.31946	0.006000	0.13384	0.196000	0.23810	3.113000	0.50376	1.448000	0.47680	0.655000	0.94253	ACA		0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		8	347	1	0	0.000274275	0.000274275	0.0039602	8	347				
HEXA	3073	broad.mit.edu	37	15	72668191	72668191	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72668191C>A	ENST00000268097.5	-	1	626	c.123G>T	c.(121-123)ccG>ccT	p.P41P	HEXA_ENST00000457859.2_5'Flank|RP11-106M3.2_ENST00000379915.4_RNA|HEXA-AS1_ENST00000567598.1_RNA|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000429918.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	41					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAAGTTGTTCGGGTAAAGGA	0.622																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(121-123)ccG>ccT		hexosaminidase A (alpha polypeptide)							136.0	150.0	145.0					15																	72668191		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668191C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.123G>T	15.37:g.72668191C>A						RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P	p.P41P	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			1	626	-			41					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.123G>T	CCDS10243.1																																																																																				0.622	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		12	701	1	0	0.000151284	0.000151284	0.00252221	12	701				
PHKG2	5261	broad.mit.edu	37	16	30762913	30762913	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:30762913G>T	ENST00000563588.1	+	4	554	c.315G>T	c.(313-315)ctG>ctT	p.L105L	PHKG2_ENST00000328273.7_Silent_p.L105L|PHKG2_ENST00000424889.3_Silent_p.L105L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L105L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCATGTTCCTGGTGTTTGACC	0.537																																						ENST00000563588.1																			1	Substitution - coding silent(1)	p.L105L(1)	lung(1)	ovary(1)|skin(1)	2						c.(313-315)ctG>ctT		phosphorylase kinase, gamma 2 (testis)							510.0	447.0	468.0					16																	30762913		2197	4300	6497	SO:0001819	synonymous_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762913G>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.315G>T	16.37:g.30762913G>T						PHKG2_ENST00000424889.3_Silent_p.L105L|PHKG2_ENST00000328273.7_Silent_p.L105L	p.L105L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	554	+			105			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	c.315G>T	CCDS10690.1																																																																																				0.537	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		13	1358	1	0	3.07112e-06	6.40141e-05	8.57171e-05	13	1358				
FRMPD4	9758	broad.mit.edu	37	X	12736390	12736390	+	Missense_Mutation	SNP	C	C	A	rs376578782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3445-3447)Cgc>Agc		FERM and PDZ domain containing 4							178.0	164.0	169.0					X																	12736390		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736390C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3445C>A	X.37:g.12736390C>A	ENSP00000370057:p.Arg1149Ser						p.R1149S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3951	+			1149					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3445C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106565	0.08780	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05382	3.45	5.4	3.44	0.39384	.	0.470669	0.24506	N	0.037922	T	0.02494	0.0076	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47114	-0.9142	10	0.12430	T	0.62	-3.5221	7.3842	0.26872	0.299:0.6019:0.0:0.0991	.	1141;1149	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1149;1140;1138	ENSP00000370057:R1149S	ENSP00000304583:R1138S	R	+	1	0	FRMPD4	12646311	0.028000	0.19301	0.989000	0.46669	0.915000	0.54546	1.772000	0.38552	1.052000	0.40392	0.600000	0.82982	CGC		0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		12	1018	1	0	0.000673444	0.000673444	0.00785517	12	1018				
MAP1LC3B2	643246	broad.mit.edu	37	12	117014104	117014104	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:117014104C>A	ENST00000556529.1	+	1	449	c.357C>A	c.(355-357)ttC>ttA	p.F119L	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.F119L			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	119					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						AGGAGACGTTCGGGATGAAAT	0.423																																						ENST00000306985.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(355-357)ttC>ttA		microtubule-associated protein 1 light chain 3 beta 2							154.0	153.0	153.0					12																	117014104		2203	4300	6503	SO:0001583	missense	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117014104C>A		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.357C>A	12.37:g.117014104C>A	ENSP00000450524:p.Phe119Leu					MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.F119L	p.F119L	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN			2	511	+			119						Missense_Mutation	SNP	ENST00000556529.1	37	c.357C>A	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796431	0.31777	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.56275	0.47;0.47	2.39	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.74881	2.28	0.45648	D	0.998576	D	0.54772	0.968	P	0.60415	0.874	T	0.57112	-0.7867	10	0.87932	D	0	.	2.6389	0.04965	0.2028:0.2782:0.0:0.5189	.	119	A6NCE7	MP3B2_HUMAN	L	119	ENSP00000305059:F119L;ENSP00000450524:F119L	ENSP00000305059:F119L	F	+	3	2	MAP1LC3B2	115498487	0.991000	0.36638	0.134000	0.22075	0.174000	0.22865	0.044000	0.13992	-0.663000	0.05331	-0.587000	0.04127	TTC		0.423	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		8	595	1	0	0.000673444	0.000673444	0.00785517	8	595				
PALLD	23022	broad.mit.edu	37	4	169812152	169812152	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:169812152C>A	ENST00000505667.1	+	11	2217	c.2044C>A	c.(2044-2046)Caa>Aaa	p.Q682K	PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K|PALLD_ENST00000335742.7_Missense_Mutation_p.Q524K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	906	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTGTTATTCAAGACCTGGA	0.468									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(1570-1572)Caa>Aaa		palladin, cytoskeletal associated protein							93.0	90.0	91.0					4																	169812152		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169812152C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2044C>A	4.37:g.169812152C>A	ENSP00000425556:p.Gln682Lys					PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q682K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K	p.Q524K			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	12	2927	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	906			Ig-like C2-type 2.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1570C>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866449	0.51588	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.69926	-0.44;-0.39;-0.26;-0.4;0.11	5.44	5.44	0.79542	.	0.000000	0.31268	U	0.007955	T	0.57917	0.2086	L	0.61036	1.89	0.80722	D	1	P;B;B;P	0.39060	0.657;0.451;0.088;0.518	B;B;B;B	0.28232	0.087;0.086;0.025;0.087	T	0.62272	-0.6889	10	0.05959	T	0.93	.	19.2535	0.93935	0.0:1.0:0.0:0.0	.	682;906;300;682	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	K	682;524;682;300;195	ENSP00000261509:Q682K;ENSP00000336735:Q524K;ENSP00000425556:Q682K;ENSP00000426947:Q300K;ENSP00000424016:Q195K	ENSP00000261509:Q682K	Q	+	1	0	PALLD	170048727	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.703000	0.84585	2.540000	0.85666	0.591000	0.81541	CAA		0.468	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		7	304	1	0	2.17888e-05	0.000442599	0.00047966	7	304				
CCDC85A	114800	broad.mit.edu	37	2	56419683	56419683	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(346-348)cgG>cgA		coiled-coil domain containing 85A							75.0	82.0	80.0					2																	56419683		1972	4162	6134	SO:0001819	synonymous_variant	114800							g.chr2:56419683G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.348G>A	2.37:g.56419683G>A						RP11-482H16.1_ENST00000607540.1_RNA	p.R116R	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	850	+			116						Silent	SNP	ENST00000407595.2	37	c.348G>A	CCDS46290.1																																																																																				0.532	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	287	0	0	0	0.000602214	0	5	287				
SLC19A3	80704	broad.mit.edu	37	2	228564041	228564041	+	Silent	SNP	C	C	A	rs376187918		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V126V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(388-390)gtG>gtT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)	C		0,4406		0,0,2203	86.0	86.0	86.0		390	5.9	1.0	2		86	1,8599		0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		130/497	228564041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564041C>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.390G>T	2.37:g.228564041C>A						SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron	p.V130V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	461	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	130						Silent	SNP	ENST00000258403.3	37	c.390G>T	CCDS2468.1																																																																																				0.587	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			8	430	1	0	5.18039e-06	0.000157383	0.000141431	8	430				
FAT2	2196	broad.mit.edu	37	5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3373	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTTTTTGGGGTGAATGGT	0.562																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10117-10119)cCc>cAc		FAT atypical cadherin 2							113.0	102.0	106.0					5																	150907603		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150907603G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10118C>A	5.37:g.150907603G>T	ENSP00000261800:p.Pro3373His						p.P3373H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	10130	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3373			Cadherin 30.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10118C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953301	0.92660	.	.	ENSG00000086570	ENST00000261800	T	0.55234	0.53	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.73806	0.3634	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74757	-0.3557	10	0.66056	D	0.02	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3373;564	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	3373	ENSP00000261800:P3373H	ENSP00000261800:P3373H	P	-	2	0	FAT2	150887796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.349000	0.97066	2.707000	0.92482	0.643000	0.83706	CCC		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	341	1	0	1.58986e-06	0.000673444	4.62318e-05	8	341				
RSC1A1	6248	broad.mit.edu	37	1	15988098	15988098	+	Missense_Mutation	SNP	C	C	A	rs374978366		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:15988098C>A	ENST00000345034.1	+	1	1735	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATATTGACCGCATTCTCCG	0.468																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1735-1737)Cgc>Agc		regulatory solute carrier protein, family 1, member 1							219.0	201.0	207.0					1																	15988098		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15988098C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1735C>A	1.37:g.15988098C>A	ENSP00000341963:p.Arg579Ser					DDI2_ENST00000480945.1_3'UTR	p.R579S	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1735	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	579			UBA.		B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1735C>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291445	0.59976	.	.	ENSG00000215695	ENST00000345034	T	0.56103	0.48	5.96	5.03	0.67393	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.56097	D	0.000027	T	0.54062	0.1835	N	0.08118	0	0.37857	D	0.929571	D	0.89917	1.0	D	0.91635	0.999	T	0.67745	-0.5591	10	0.87932	D	0	-44.9555	14.8264	0.70117	0.1494:0.8506:0.0:0.0	.	579	Q92681	RSCA1_HUMAN	S	579	ENSP00000341963:R579S	ENSP00000341963:R579S	R	+	1	0	RSC1A1	15860685	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.805000	0.47939	1.466000	0.48025	0.655000	0.94253	CGC		0.468	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		11	700	1	0	0.00010058	0.00010058	0.00173709	11	700				
SPOCK3	50859	broad.mit.edu	37	4	167983676	167983676	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:167983676G>T	ENST00000357154.3	-	4	348	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000535728.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	71					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCCAAGTGCGGAAATAATCA	0.299																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(211-213)Cgc>Agc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							64.0	67.0	66.0					4																	167983676		2201	4296	6497	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167983676G>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.211C>A	4.37:g.167983676G>T	ENSP00000349677:p.Arg71Ser					SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000507137.1_5'UTR	p.R71S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	4	348	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	71					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.211C>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906066	0.72868	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000421836;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	1.44;1.46;1.46;1.44;1.44;1.44;1.46;1.46;1.15;2.19;0.81;0.85;0.85	4.61	4.61	0.57282	.	0.144426	0.45606	D	0.000348	T	0.67401	0.2889	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.998;0.997	D;D;D;P;D;D	0.80764	0.978;0.987;0.987;0.89;0.994;0.987	T	0.67385	-0.5684	10	0.37606	T	0.19	5.3673	17.402	0.87463	0.0:0.0:1.0:0.0	.	20;80;68;71;68;71	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	S	71;68;68;71;71;71;68;68;20;68;68;68;71;71	ENSP00000349677:R71S;ENSP00000350153:R68S;ENSP00000425570:R68S;ENSP00000420920:R71S;ENSP00000423421:R71S;ENSP00000423606:R71S;ENSP00000426716:R68S;ENSP00000425502:R68S;ENSP00000411344:R20S;ENSP00000426177:R68S;ENSP00000423367:R68S;ENSP00000424168:R71S;ENSP00000425407:R71S	ENSP00000349677:R71S	R	-	1	0	SPOCK3	168220251	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.187000	0.72039	2.296000	0.77279	0.585000	0.79938	CGC		0.299	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			9	671	1	0	2.17888e-05	0.000442599	0.00047966	9	671				
NBPF1	55672	broad.mit.edu	37	1	16902777	16902777	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:16902777G>T	ENST00000430580.2	-	19	2991	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K	NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K|NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	702						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGAGCTTTTGGACAAGGTGC	0.562																																						ENST00000430580.2																			0											c.(2104-2106)Caa>Aaa		neuroblastoma breakpoint family, member 1							124.0	139.0	133.0					1																	16902777		1509	2700	4209	SO:0001583	missense	55672					cytoplasm		g.chr1:16902777G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2104C>A	1.37:g.16902777G>T	ENSP00000474456:p.Gln702Lys					NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K	p.Q702K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2991	-			702					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2104C>A																																																																																					0.562	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		19	2025	1	0	1.58986e-06	0.000673444	4.62318e-05	19	2025				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000567960.1																			0																																																			0							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000564451.1_RNA								0	345	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	146	0	0	0	0.000673444	0	6	146				
CDKL5	6792	broad.mit.edu	37	X	18631387	18631387	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18631387C>A	ENST00000379989.3	+	16	2553	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	756				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCAGCATTCGATCCATGGT	0.353																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2266-2268)ttC>ttA		cyclin-dependent kinase-like 5							122.0	117.0	119.0					X																	18631387		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18631387C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2268C>A	X.37:g.18631387C>A	ENSP00000369325:p.Phe756Leu					CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L|CDKL5_ENST00000463994.1_Intron	p.F756L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			16	2553	+	Hepatocellular(33;0.183)		756	Missing (in Ref. 4; CAA61445).				G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2268C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921786	0.73213	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79554	-1.28;-1.28	5.03	-2.85	0.05734	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	L	0.34521	1.04	0.34699	D	0.726521	D	0.76494	0.999	D	0.74674	0.984	T	0.81752	-0.0789	10	0.72032	D	0.01	-19.4956	12.8858	0.58042	0.0:0.1006:0.0:0.8994	.	756	O76039	CDKL5_HUMAN	L	756	ENSP00000369332:F756L;ENSP00000369325:F756L	ENSP00000369325:F756L	F	+	3	2	CDKL5	18541308	0.962000	0.33011	0.770000	0.31555	0.993000	0.82548	0.020000	0.13466	-0.882000	0.03987	0.499000	0.49734	TTC		0.353	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		11	622	1	0	0.00010058	0.00010058	0.00173709	11	622				
ACO1	48	broad.mit.edu	37	9	32408531	32408531	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:32408531G>T	ENST00000309951.6	+	4	424	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	ACO1_ENST00000379923.1_Missense_Mutation_p.D96Y|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	96					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(286-288)Gac>Tac		aconitase 1, soluble							159.0	149.0	153.0					9																	32408531		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408531G>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.286G>T	9.37:g.32408531G>T	ENSP00000309477:p.Asp96Tyr					ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.D96Y	p.D96Y	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	5	492	+			96					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.286G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699540	0.88830	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.49720	0.77;0.77	5.96	5.96	0.96718	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89212	0.3565	10	0.87932	D	0	-8.9451	19.1796	0.93617	0.0:0.0:1.0:0.0	.	96	P21399	ACOC_HUMAN	Y	132;96;96;96	ENSP00000309477:D96Y;ENSP00000369255:D96Y	ENSP00000309477:D96Y	D	+	1	0	ACO1	32398531	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	9.809000	0.99208	2.814000	0.96858	0.655000	0.94253	GAC		0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		10	512	1	0	0.00010058	0.00010058	0.00173709	10	512				
TRAF6	7189	broad.mit.edu	37	11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	183	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGTCTCCTTGGACAATCCTT	0.383																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(547-549)cCa>cAa		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							85.0	85.0	85.0					11																	36518716		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36518716G>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.548C>A	11.37:g.36518716G>T	ENSP00000433623:p.Pro183Gln					TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			4	794	-	all_lung(20;0.211)	all_hematologic(20;0.107)	183			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.548C>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231445	0.39399	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.32023	1.47;1.47	5.49	4.58	0.56647	Zinc finger, TRAF-type (1);	0.202993	0.47093	D	0.000247	T	0.25494	0.0620	L	0.58428	1.81	0.45806	D	0.99868	P	0.40266	0.71	B	0.31442	0.13	T	0.06075	-1.0847	10	0.13470	T	0.59	-14.1184	14.391	0.66978	0.0711:0.0:0.9289:0.0	.	183	Q9Y4K3	TRAF6_HUMAN	Q	183	ENSP00000433623:P183Q;ENSP00000337853:P183Q	ENSP00000337853:P183Q	P	-	2	0	TRAF6	36475292	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.971000	0.40530	1.325000	0.45301	0.650000	0.86243	CCA		0.383	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		8	395	1	0	0.000442599	0.000442599	0.00556767	8	395				
MARCH7	64844	broad.mit.edu	37	2	160605292	160605292	+	Silent	SNP	C	C	A	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.4	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409175.1_Silent_p.T497T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	497					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1489-1491)acC>acA		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							176.0	193.0	187.0					2																	160605292		2203	4300	6503	SO:0001819	synonymous_variant	64844						ligase activity|zinc ion binding	g.chr2:160605292C>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1491C>A	2.37:g.160605292C>A						MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409175.1_Silent_p.T497T	p.T497T	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1613	+			497					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	c.1491C>A	CCDS2210.1																																																																																				0.423	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		12	1096	1	0	0.000673444	0.000673444	0.00785517	12	1096				
SLC4A7	9497	broad.mit.edu	37	3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATGATGACCACAAGCTGAC	0.363																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2443-2445)Ggt>Tgt		solute carrier family 4, sodium bicarbonate cotransporter, member 7							119.0	120.0	119.0					3																	27439802		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27439802C>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2443G>T	3.37:g.27439802C>A	ENSP00000295736:p.Gly815Cys					SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	p.G815C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			17	2513	-			815					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2443G>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874189	0.72180	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.71	0.654	0.17833	Bicarbonate transporter, C-terminal (1);	0.319899	0.37483	N	0.002069	D	0.87406	0.6169	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979	D	0.85536	0.1212	10	0.66056	D	0.02	.	9.6876	0.40109	0.0:0.6546:0.0:0.3454	.	811;696;807;811;824;365;691;815;696	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	366;815;691;824;811;696;807;696;811;700;365;711	ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C	ENSP00000295736:G815C	G	-	1	0	SLC4A7	27414806	0.989000	0.36119	0.287000	0.24848	0.950000	0.60333	0.479000	0.22228	-0.163000	0.10946	0.563000	0.77884	GGT		0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		8	494	1	0	2.27111e-07	0.00010058	7.55265e-06	8	494				
ZNF613	79898	broad.mit.edu	37	19	52447796	52447796	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52447796C>A	ENST00000293471.6	+	6	1339	c.660C>A	c.(658-660)atC>atA	p.I220I	ZNF613_ENST00000391794.4_Silent_p.I184I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCGCCTCATCTATCATCAGA	0.458																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(658-660)atC>atA		zinc finger protein 613							160.0	165.0	163.0					19																	52447796		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447796C>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.660C>A	19.37:g.52447796C>A						ZNF613_ENST00000391794.4_Silent_p.I184I	p.I220I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1339	+		all_neural(266;0.117)	220					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.660C>A	CCDS33089.1																																																																																				0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		10	903	1	0	3.09899e-07	0.000274275	9.98704e-06	10	903				
PHF3	23469	broad.mit.edu	37	6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3	122					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGAAAATTCAGTGAGATCT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(364-366)tCa>tAa		PHD finger protein 3							152.0	150.0	151.0					6																	64390021		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64390021C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.365C>A	6.37:g.64390021C>A	ENSP00000262043:p.Ser122*					PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*	p.S122*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	705	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		122					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.365C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.065655	0.97251	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.98	5.98	0.97165	.	0.000000	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.529	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	34;122;75;122;122;52	.	ENSP00000262043:S122X	S	+	2	0	PHF3	64447980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.034000	0.57289	2.838000	0.97847	0.591000	0.81541	TCA		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			14	491	1	0	5.01169e-05	0.000566183	0.0010075	14	491				
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	C	A	rs369392849		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:20548635C>A	ENST00000329697.6	-	14	1847	c.1679G>T	c.(1678-1680)cGa>cTa	p.R560L	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1678-1680)cGa>cTa		acyl-CoA synthetase medium-chain family member 2B							258.0	237.0	244.0					16																	20548635		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548635C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1679G>T	16.37:g.20548635C>A	ENSP00000327453:p.Arg560Leu					ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L	p.R560L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			14	1847	-			560					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1679G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771870	0.31320	.	.	ENSG00000066813	ENST00000329697	T	0.61980	0.06	3.09	2.12	0.27331	.	0.000000	0.37577	N	0.002027	T	0.73636	0.3612	M	0.66297	2.02	0.29017	N	0.886545	D	0.89917	1.0	D	0.97110	1.0	T	0.67852	-0.5563	10	0.87932	D	0	-10.6762	9.9369	0.41556	0.0:0.8946:0.0:0.1054	.	560	Q68CK6	ACS2B_HUMAN	L	560	ENSP00000327453:R560L	ENSP00000327453:R560L	R	-	2	0	ACSM2B	20456136	0.011000	0.17503	0.002000	0.10522	0.037000	0.13140	2.510000	0.45468	0.617000	0.30160	-0.192000	0.12808	CGA		0.473	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		12	1048	1	0	0.000219431	0.000219431	0.00342116	12	1048				
DOCK11	139818	broad.mit.edu	37	X	117796744	117796744	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276202.7	+	45	5128	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5065-5067)Cat>Aat		dedicator of cytokinesis 11							96.0	82.0	87.0					X																	117796744		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117796744C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5065C>A	X.37:g.117796744C>A	ENSP00000276202:p.His1689Asn					DOCK11_ENST00000276202.7_Missense_Mutation_p.H1689N	p.H1689N			Q5JSL3	DOC11_HUMAN			45	5139	+			1689			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5065C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978984	0.34942	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18016	2.24;2.24	5.61	5.61	0.85477	.	0.052227	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64997	1.995	0.36635	D	0.876492	P;P	0.46020	0.871;0.871	P;P	0.46237	0.508;0.508	T	0.12708	-1.0537	10	0.51188	T	0.08	-15.4143	11.2768	0.49172	0.0:0.9153:0.0:0.0847	.	1689;1689	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1689	ENSP00000276204:H1689N;ENSP00000276202:H1689N	ENSP00000276202:H1689N	H	+	1	0	DOCK11	117680772	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.493000	0.84123	0.600000	0.82982	CAT		0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		8	296	1	0	3.09899e-07	0.000274275	9.98704e-06	8	296				
COQ10B	80219	broad.mit.edu	37	2	198338490	198338490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:198338490G>T	ENST00000263960.2	+	5	697	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*|COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	187						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTTCTTTTGAATTTCGATC	0.333																																						ENST00000263960.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(559-561)Gaa>Taa		coenzyme Q10 homolog B (S. cerevisiae)							46.0	46.0	46.0					2																	198338490		2203	4300	6503	SO:0001587	stop_gained	80219					mitochondrial inner membrane		g.chr2:198338490G>T	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.559G>T	2.37:g.198338490G>T	ENSP00000263960:p.Glu187*					COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*|COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*	p.E187*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	697	+			187					B7Z1Y4	Nonsense_Mutation	SNP	ENST00000263960.2	37	c.559G>T	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	G	38	7.256417	0.98168	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.0466	18.5442	0.91040	0.0:0.0:1.0:0.0	.	.	.	.	X	187;137;144;159	.	ENSP00000263960:E187X	E	+	1	0	COQ10B	198046735	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.777000	0.99008	2.371000	0.80710	0.585000	0.79938	GAA		0.333	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		9	531	1	0	0.000442599	0.000442599	0.00556767	9	531				
POGLUT1	56983	broad.mit.edu	37	3	119190184	119190184	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119190184C>A	ENST00000295588.4	+	3	289	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	69					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AACTCCTTTCCGAGGAGGCAT	0.498																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(205-207)Cga>Aga		protein O-glucosyltransferase 1							248.0	244.0	245.0					3																	119190184		2203	4300	6503	SO:0001819	synonymous_variant	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119190184C>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.205C>A	3.37:g.119190184C>A							p.R69R	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			3	289	+			69					B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	ENST00000295588.4	37	c.205C>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092898	0.20471	.	.	ENSG00000163389	ENST00000476573	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.69097	0.3073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68123	-0.5492	4	.	.	.	-6.1614	13.7387	0.62833	0.0:1.0:0.0:0.0	.	.	.	.	Q	55	.	.	P	+	2	0	POGLUT1	120672874	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.904000	0.48719	2.312000	0.78011	0.561000	0.74099	CCG		0.498	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		9	864	1	0	0.000274275	0.000274275	0.0039602	9	864				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000541777.2_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		7	709	0	0	0	0.000157383	0	7	709				
KL	9365	broad.mit.edu	37	13	33628294	33628294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:33628294G>T	ENST00000380099.3	+	2	1218	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	404	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1210-1212)Gaa>Taa		klotho							153.0	159.0	157.0					13																	33628294		2203	4300	6503	SO:0001587	stop_gained	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628294G>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1210G>T	13.37:g.33628294G>T	ENSP00000369442:p.Glu404*					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	p.E404*	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1218	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	404			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Nonsense_Mutation	SNP	ENST00000380099.3	37	c.1210G>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	38	7.221397	0.98143	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	.	.	.	5.9	5.9	0.94986	.	0.047074	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-31.2488	15.7291	0.77788	0.0:0.1359:0.8641:0.0	.	.	.	.	X	97;404	.	ENSP00000369442:E404X	E	+	1	0	KL	32526294	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.776000	0.85560	2.806000	0.96561	0.655000	0.94253	GAA		0.418	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			12	868	1	0	1.49906e-05	0.000219431	0.000353665	12	868				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		10	420	0	0	0	0.000442599	0	10	420				
OSGIN2	734	broad.mit.edu	37	8	90926876	90926876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:90926876G>T	ENST00000297438.2	+	4	653	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000451899.2_Missense_Mutation_p.G144W	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	100					meiotic nuclear division (GO:0007126)			p.G100W(1)|p.G144W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCTGACTTTGGGTATGATTA	0.448																																						ENST00000451899.2																			2	Substitution - Missense(2)	p.G100W(1)|p.G144W(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(430-432)Ggg>Tgg		oxidative stress induced growth inhibitor family member 2							213.0	196.0	202.0					8																	90926876		2203	4300	6503	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90926876G>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.298G>T	8.37:g.90926876G>T	ENSP00000297438:p.Gly100Trp					OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000297438.2_Missense_Mutation_p.G100W	p.G144W	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	690	+			100						Missense_Mutation	SNP	ENST00000297438.2	37	c.430G>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946518	0.92593	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.10288	2.89;2.89;2.89	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.35798	-0.9774	10	0.87932	D	0	-11.2268	19.9187	0.97077	0.0:0.0:1.0:0.0	.	144;100	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	W	100;144;144	ENSP00000297438:G100W;ENSP00000396445:G144W;ENSP00000431029:G144W	ENSP00000297438:G100W	G	+	1	0	OSGIN2	90996050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.702000	0.92279	0.591000	0.81541	GGG		0.448	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		10	587	1	0	2.17888e-05	0.000442599	0.00047966	10	587				
TPTE2P2	644623	broad.mit.edu	37	13	52864053	52864053	+	RNA	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52864053T>A	ENST00000451298.1	-	0	116																											AACTTTGCTATCAGTGAAAAT	0.308																																						ENST00000451298.1																			0																																																			0							g.chr13:52864053T>A																													13.37:g.52864053T>A						RP11-64P12.8_ENST00000606031.1_RNA								0	116	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.308	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			5	125	0	0	0	3.59834e-05	0	5	125				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		13	166	0	0	0	0.000566183	0	13	166				
PARP4	143	broad.mit.edu	37	13	25029162	25029162	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:25029162G>T	ENST00000381989.3	-	22	2856	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	917	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCTGTGCCGAACTGGATAA	0.532																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2749-2751)ttC>ttA		poly (ADP-ribose) polymerase family, member 4							226.0	195.0	206.0					13																	25029162		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029162G>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2751C>A	13.37:g.25029162G>T	ENSP00000371419:p.Phe917Leu						p.F917L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2856	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	917			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2751C>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772737	0.69992	.	.	ENSG00000102699	ENST00000381989	T	0.38077	1.16	4.72	-0.894	0.10563	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.89287	3.02	0.42033	D	0.991034	D	0.76494	0.999	D	0.80764	0.994	T	0.59768	-0.7392	10	0.87932	D	0	-24.2667	8.1535	0.31154	0.6155:0.0:0.3845:0.0	.	917	Q9UKK3	PARP4_HUMAN	L	917	ENSP00000371419:F917L	ENSP00000371419:F917L	F	-	3	2	PARP4	23927162	0.993000	0.37304	0.961000	0.40146	0.954000	0.61252	0.325000	0.19628	-0.205000	0.10219	-0.476000	0.04901	TTC		0.532	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		9	725	1	0	1.58986e-06	0.000673444	4.62318e-05	9	725				
ANKRD12	23253	broad.mit.edu	37	18	9275594	9275594	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:9275594C>A	ENST00000262126.4	+	11	6076	c.5836C>A	c.(5836-5838)Caa>Aaa	p.Q1946K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1923K|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1946						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGGCAAATCAAACACTGCC	0.343																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5767-5769)Caa>Aaa		ankyrin repeat domain 12							175.0	161.0	166.0					18																	9275594		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9275594C>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5836C>A	18.37:g.9275594C>A	ENSP00000262126:p.Gln1946Lys					ANKRD12_ENST00000262126.3_Missense_Mutation_p.Q1946K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K	p.Q1923K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			10	6024	+			1946					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5767C>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535525	0.96460	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.70869	-0.52;-0.52	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.79123	2.44	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.952	D	0.85713	0.1320	10	0.87932	D	0	-16.6689	20.5211	0.99222	0.0:1.0:0.0:0.0	.	1923;1946	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	1923;1946	ENSP00000372932:Q1923K;ENSP00000262126:Q1946K	ENSP00000262126:Q1946K	Q	+	1	0	ANKRD12	9265594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.861000	0.98227	0.650000	0.86243	CAA		0.343	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		14	994	1	0	2.31682e-05	0.000308642	0.000501203	14	994				
MRPS36	92259	broad.mit.edu	37	5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373																																						ENST00000256441.4																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(259-261)aaA>aaT		mitochondrial ribosomal protein S36							160.0	172.0	168.0					5																	68524181		2203	4300	6503	SO:0001583	missense	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524181A>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.261A>T	5.37:g.68524181A>T	ENSP00000256441:p.Lys87Asn					MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N	p.K87N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	331	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	87					Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	c.261A>T	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910653	0.52439	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	4.59	0.56863	.	0.054165	0.64402	D	0.000001	T	0.64994	0.2649	L	0.39898	1.24	0.44136	D	0.99692	D	0.76494	0.999	D	0.83275	0.996	T	0.65755	-0.6091	9	0.72032	D	0.01	-20.7389	8.3323	0.32193	0.8452:0.0:0.1548:0.0	.	87	P82909	RT36_HUMAN	N	87;22	.	ENSP00000256441:K87N	K	+	3	2	MRPS36	68559937	0.989000	0.36119	0.991000	0.47740	0.993000	0.82548	2.537000	0.45702	1.005000	0.39183	0.377000	0.23210	AAA		0.373	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281		63	514	0	0	0	0.000781405	0	63	514				
PLEKHH2	130271	broad.mit.edu	37	2	43924402	43924402	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	199					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTTTATCTCGAGCAAGGAG	0.428																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(595-597)Cga>Aga		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							118.0	118.0	118.0					2																	43924402		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43924402C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.595C>A	2.37:g.43924402C>A							p.R199R	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			7	705	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	199					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.595C>A	CCDS1812.1																																																																																				0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		12	532	1	0	0.000219431	0.000219431	0.00342116	12	532				
AFF1	4299	broad.mit.edu	37	4	87968161	87968161	+	Silent	SNP	C	C	T	rs549441433		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	151					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAAAAGCTGCGGCCCACCGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0					ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(451-453)tgC>tgT		AF4/FMR2 family, member 1							79.0	78.0	78.0					4																	87968161		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968161C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.453C>T	4.37:g.87968161C>T						AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	p.C151C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	873	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	151					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.453C>T	CCDS3616.1																																																																																				0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		5	281	0	0	0	0.000602214	0	5	281				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		6	201	0	0	0	0.000295444	0	6	201				
CTNNAL1	8727	broad.mit.edu	37	9	111761453	111761453	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111761453G>T	ENST00000325551.4	-	2	311	c.225C>A	c.(223-225)gtC>gtA	p.V75V	CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374595.4_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	75					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCCAAGTTGACAGCTTGTC	0.328																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(223-225)gtC>gtA		catenin (cadherin-associated protein), alpha-like 1							176.0	180.0	179.0					9																	111761453		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761453G>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.225C>A	9.37:g.111761453G>T						CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V|CTNNAL1_ENST00000325551.4_Silent_p.V75V	p.V75V			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	304	-			75					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.225C>A	CCDS6775.1																																																																																				0.328	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		14	1194	1	0	7.48243e-07	0.000442599	2.35076e-05	14	1194				
MLNR	2862	broad.mit.edu	37	13	49796387	49796387	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547																																						ENST00000218721.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1111-1113)ctC>ctA		motilin receptor							81.0	81.0	81.0					13																	49796387		2203	4300	6503	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796387C>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1113C>A	13.37:g.49796387C>A						MLNR_ENST00000398307.1_3'UTR	p.L371L	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1113	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	371						Silent	SNP	ENST00000218721.1	37	c.1113C>A	CCDS9414.1																																																																																				0.547	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		9	676	1	0	0.000274275	0.000274275	0.0039602	9	676				
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T	rs200171403		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)cGg>cAg		CD209 molecule							88.0	91.0	90.0					19																	7810766		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810766C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.386G>A	19.37:g.7810766C>T	ENSP00000315477:p.Arg129Gln					CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000394161.5_Intron	p.R129Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	408	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.386G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	0.564	-0.844081	0.02671	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;2.29	1.41	-2.82	0.05787	.	.	.	.	.	T	0.07413	0.0187	N	0.04787	-0.16	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.19935	0.038;0.002;0.002;0.012;0.021;0.005;0.013;0.02;0.04;0.021	B;B;B;B;B;B;B;B;B;B	0.12156	0.006;0.006;0.001;0.004;0.004;0.002;0.002;0.005;0.005;0.007	T	0.38866	-0.9641	9	0.09843	T	0.71	.	6.588	0.22632	0.0:0.4003:0.0:0.5997	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	129;129;105;85;129;85;113	ENSP00000315477:R129Q;ENSP00000346373:R129Q;ENSP00000315407:R105Q;ENSP00000204801:R85Q;ENSP00000301357:R85Q	ENSP00000204801:R85Q	R	-	2	0	CD209	7716766	0.000000	0.05858	0.009000	0.14445	0.384000	0.30261	-1.923000	0.01567	-1.604000	0.01595	-1.804000	0.00617	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		10	736	0	0	0	6.40141e-05	0	10	736				
LEPR	3953	broad.mit.edu	37	1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2413-2415)Gag>Tag		leptin receptor							74.0	74.0	74.0					1																	66085628		2203	4296	6499	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66085628G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2413G>T	1.37:g.66085628G>T	ENSP00000330393:p.Glu805*					LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*	p.E805*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	17	2598	+			805			Fibronectin type-III 4.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2413G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	44	10.974545	0.99497	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6903	19.9253	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	805	.	ENSP00000340884:E805X	E	+	1	0	LEPR	65858216	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.292000	0.65673	2.692000	0.91855	0.650000	0.86243	GAG		0.279	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		9	512	1	0	0.000151284	0.000151284	0.00252221	9	512				
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183.0	188.0	186.0					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		6	857	0	0	0	3.59834e-05	0	6	857				
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453																																						ENST00000291009.3																			1	Substitution - Missense(1)	p.R118L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(352-354)cGg>cTg		prolactin-induced protein							165.0	157.0	159.0					7																	142836647		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142836647G>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.353G>T	7.37:g.142836647G>T	ENSP00000291009:p.Arg118Leu						p.R118L	NM_002652.2	NP_002643.1	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	393	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	118					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.353G>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837901	0.50951	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.13286	0.0322	M	0.65975	2.015	0.09310	N	1	B	0.22983	0.078	B	0.20577	0.03	T	0.34925	-0.9809	10	0.51188	T	0.08	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	L	118	ENSP00000291009:R118L	ENSP00000291009:R118L	R	+	2	0	PIP	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG		0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		11	689	1	0	0.000151284	0.000151284	0.00252221	11	689				
GOLGB1	2804	broad.mit.edu	37	3	121410027	121410027	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121410027G>T	ENST00000340645.5	-	14	8294	c.8169C>A	c.(8167-8169)acC>acA	p.T2723T	GOLGB1_ENST00000393667.3_Silent_p.T2728T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2723					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATTTTCTTTGGTGACCATGA	0.403																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8182-8184)acC>acA		golgin B1							237.0	244.0	242.0					3																	121410027		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410027G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8169C>A	3.37:g.121410027G>T						GOLGB1_ENST00000340645.5_Silent_p.T2723T	p.T2728T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8294	-			2723					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.8184C>A	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		12	960	1	0	1.5842e-08	0.000151284	5.6922e-07	12	960				
USP37	57695	broad.mit.edu	37	2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(577-579)Ctt>Gtt		ubiquitin specific peptidase 37							119.0	118.0	118.0					2																	219411667		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219411667G>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.577C>G	2.37:g.219411667G>C	ENSP00000258399:p.Leu193Val					USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V	p.L193V	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	7	989	-		Renal(207;0.0915)	193					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.577C>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	6.869	0.529682	0.13127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.44881	1.02;1.02;1.02;1.02;0.91	4.83	3.93	0.45458	.	0.503731	0.21796	N	0.068985	T	0.25531	0.0621	N	0.24115	0.695	0.25253	N	0.989657	P;B;B	0.47910	0.902;0.372;0.167	B;B;B	0.40066	0.318;0.053;0.016	T	0.09552	-1.0669	10	0.13853	T	0.58	-13.4553	11.632	0.51181	0.0864:0.0:0.9136:0.0	.	193;121;193	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	V	193;193;121;193;193	ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V	ENSP00000258399:L193V	L	-	1	0	USP37	219119911	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.336000	0.59304	2.506000	0.84524	0.563000	0.77884	CTT		0.398	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		83	463	0	0	0	0.000781405	0	83	463				
WDR7	23335	broad.mit.edu	37	18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAACTTTGTGCCGATGCCGAG	0.438																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3688-3690)gCc>gTc		WD repeat domain 7							206.0	187.0	193.0					18																	54591315		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54591315C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3689C>T	18.37:g.54591315C>T	ENSP00000254442:p.Ala1230Val					WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	p.A1230V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3900	+			1230					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3689C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362697	0.82353	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.67171	-0.25;1.47	5.45	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.42245	1.32	0.58432	D	0.999991	P;P	0.44627	0.839;0.751	P;B	0.46172	0.506;0.309	T	0.68108	-0.5496	10	0.52906	T	0.07	.	15.7022	0.77549	0.0:0.8624:0.1376:0.0	.	1197;1230	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1230;1197;555;1197	ENSP00000254442:A1230V;ENSP00000350187:A1197V	ENSP00000254442:A1230V	A	+	2	0	WDR7	52742313	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.489000	0.81451	1.256000	0.44068	0.591000	0.81541	GCC		0.438	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			6	550	0	0	0	0.000274275	0	6	550				
GABRA2	2555	broad.mit.edu	37	4	46305547	46305547	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGACAGTCATGATGCAAGGCA	0.388																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(784-786)atC>atA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						137.0	134.0	135.0					4																	46305547		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305547G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.786C>A	4.37:g.46305547G>T						GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000356504.1_Silent_p.I262I	p.I262I			P47869	GBRA2_HUMAN			8	959	-			262					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.786C>A	CCDS3471.1																																																																																				0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			51	354	1	0	4.37618e-36	0.000781405	1.78823e-34	51	354				
ATP11C	286410	broad.mit.edu	37	X	138865392	138865392	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000327569.3	-	17	1808	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000370543.1_Silent_p.S570S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAAACTGCCGAGTCTGCTC	0.383																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1699-1701)tcG>tcT		ATPase, class VI, type 11C							176.0	169.0	172.0					X																	138865392		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138865392C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1710G>T	X.37:g.138865392C>A						ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.S570S	p.S567S			Q8NB49	AT11C_HUMAN			17	2728	-	Acute lymphoblastic leukemia(192;0.000127)		570					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1701G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718142	0.15372	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.03	-0.535	0.11879	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	0.1686	0.00111	0.3292:0.1618:0.2295:0.2795	.	.	.	.	L	122	.	.	R	-	2	0	ATP11C	138693058	0.034000	0.19679	0.888000	0.34837	0.862000	0.49288	-0.918000	0.04021	-0.124000	0.11724	-1.375000	0.01183	CGG		0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		13	812	1	0	1.49906e-05	0.000219431	0.000353665	13	812				
DCAF5	8816	broad.mit.edu	37	14	69522283	69522283	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:69522283C>A	ENST00000341516.5	-	9	1267	c.1120G>T	c.(1120-1122)Ggt>Tgt	p.G374C	DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C|DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	374					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCAATCCGACCGTCGAGGTCT	0.493																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1120-1122)Ggt>Tgt		DDB1 and CUL4 associated factor 5							165.0	159.0	161.0					14																	69522283		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522283C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1120G>T	14.37:g.69522283C>A	ENSP00000341351:p.Gly374Cys					DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C	p.G374C	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1267	-			374					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1120G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072490	0.76415	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.70399	-0.48;-0.31;-0.31;0.14	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.959	T	0.79564	-0.1751	10	0.87932	D	0	-17.6055	20.1218	0.97964	0.0:1.0:0.0:0.0	.	373;374	G3V4J7;Q96JK2	.;DCAF5_HUMAN	C	374;292;292;373	ENSP00000341351:G374C;ENSP00000451551:G292C;ENSP00000452052:G292C;ENSP00000451845:G373C	ENSP00000341351:G374C	G	-	1	0	DCAF5	68592036	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	7.336000	0.79245	2.763000	0.94921	0.561000	0.74099	GGT		0.493	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		10	770	1	0	0.000673444	0.000673444	0.00785517	10	770				
KLHL22	84861	broad.mit.edu	37	22	20819390	20819390	+	Silent	SNP	C	C	T	rs370087004		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTCCGTTTGCGGGCTCTGCA	0.632																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(865-867)ccG>ccA		kelch-like family member 22		C		0,4406		0,0,2203	46.0	46.0	46.0		867	-10.8	0.0	22		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL22	NM_032775.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		289/635	20819390	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819390C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.867G>A	22.37:g.20819390C>T						KLHL22_ENST00000440659.2_Silent_p.P146P	p.P289P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1023	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	289					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.867G>A	CCDS13780.1																																																																																				0.632	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		4	159	0	0	0	0.00024832	0	4	159				
BNC1	646	broad.mit.edu	37	15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A913V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	920					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2758-2760)gCt>gTt		basonuclin 1							207.0	200.0	202.0					15																	83926420		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926420G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2759C>T	15.37:g.83926420G>A	ENSP00000307041:p.Ala920Val					BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	p.A920V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2844	-			920					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2759C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520519	0.27211	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.93	4.99	0.66335	.	0.467668	0.23420	N	0.048377	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	0.999994	B;P	0.39282	0.4;0.666	B;B	0.30029	0.11;0.102	T	0.09885	-1.0654	10	0.19147	T	0.46	-21.1832	10.7119	0.45988	0.0757:0.1342:0.7901:0.0	.	913;920	F5GY04;Q01954	.;BNC1_HUMAN	V	920;913	ENSP00000307041:A920V	ENSP00000307041:A920V	A	-	2	0	BNC1	81717424	0.623000	0.27094	0.936000	0.37596	0.710000	0.40934	1.984000	0.40658	1.454000	0.47793	0.557000	0.71058	GCT		0.537	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		75	812	0	0	0	0.000781405	0	75	812				
TRIM60	166655	broad.mit.edu	37	4	165962020	165962020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:165962020G>T	ENST00000512596.1	+	3	1012	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	266						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAATGCCCTGAACTCTTTTC	0.393																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(796-798)Gaa>Taa		tripartite motif containing 60							58.0	61.0	60.0					4																	165962020		2203	4300	6503	SO:0001587	stop_gained	166655					intracellular	zinc ion binding	g.chr4:165962020G>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.796G>T	4.37:g.165962020G>T	ENSP00000421142:p.Glu266*					TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*	p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1012	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	266					Q8NA35	Nonsense_Mutation	SNP	ENST00000512596.1	37	c.796G>T	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423185	0.62733	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	.	.	.	2.49	1.61	0.23674	.	0.644053	0.12051	U	0.504131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.5572	0.12141	0.1969:0.0:0.8031:0.0	.	.	.	.	X	266	.	ENSP00000343765:E266X	E	+	1	0	TRIM60	166181470	0.000000	0.05858	0.039000	0.18376	0.341000	0.28922	0.596000	0.24044	0.572000	0.29383	0.655000	0.94253	GAA		0.393	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		9	426	1	0	0.000442599	0.000442599	0.00556767	9	426				
RPS25	6230	broad.mit.edu	37	11	118888751	118888751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118888751C>A	ENST00000527673.1	-	2	421	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	RPS25_ENST00000528547.1_5'UTR|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCTTCTTGTCGTCCTTAGGC	0.542																																						ENST00000527673.1																			0				endometrium(1)	1						c.(16-18)Gac>Tac		ribosomal protein S25							112.0	114.0	113.0					11																	118888751		2200	4295	6495	SO:0001583	missense	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888751C>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.16G>T	11.37:g.118888751C>A	ENSP00000435096:p.Asp6Tyr					RPS25_ENST00000528547.1_5'UTR	p.D6Y	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	421	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	6					B2R4M7|P25111	Missense_Mutation	SNP	ENST00000527673.1	37	c.16G>T	CCDS8406.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467841	0.43839	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.5	5.5	0.81552	.	0.100672	0.64402	D	0.000002	T	0.73171	0.3553	M	0.85462	2.755	0.80722	D	1	B	0.31730	0.337	B	0.31495	0.131	T	0.75977	-0.3127	9	0.66056	D	0.02	-9.1481	19.3992	0.94621	0.0:1.0:0.0:0.0	.	6	P62851	RS25_HUMAN	Y	6	.	ENSP00000435096:D6Y	D	-	1	0	RPS25	118393961	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.484000	0.60271	2.593000	0.87608	0.655000	0.94253	GAC		0.542	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		8	457	1	0	1.76689e-08	0.000442599	6.24103e-07	8	457				
STX2	2054	broad.mit.edu	37	12	131297517	131297517	+	Silent	SNP	G	G	T	rs146831527		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297517G>T	ENST00000392373.2	-	4	359	c.265C>A	c.(265-267)Cga>Aga	p.R89R	snoU13_ENST00000459050.1_RNA|STX2_ENST00000261653.6_Silent_p.R89R|RP11-989F5.1_ENST00000546264.1_lincRNA|RP11-989F5.3_ENST00000542821.1_lincRNA	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	89				R -> A (in Ref. 1; BAA03436). {ECO:0000305}.	acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.249																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(265-267)Cga>Aga		syntaxin 2							91.0	96.0	94.0					12																	131297517		2202	4296	6498	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131297517G>T	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.265C>A	12.37:g.131297517G>T						STX2_ENST00000392373.2_Silent_p.R89R	p.R89R	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	4	431	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		89	R -> A (in Ref. 1; BAA03436).				Q86VW8	Silent	SNP	ENST00000392373.2	37	c.265C>A	CCDS9270.1																																																																																				0.249	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		21	757	1	0	9.22233e-05	0.000720815	0.00168099	21	757				
PTPN22	26191	broad.mit.edu	37	1	114380531	114380531	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114380531C>A	ENST00000359785.5	-	13	1626	c.1491G>T	c.(1489-1491)ctG>ctT	p.L497L	PTPN22_ENST00000538253.1_Silent_p.L253L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000525799.1_Silent_p.L370L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	497					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAATAATTCAGTTCTGCTG	0.363																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1489-1491)ctG>ctT		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							123.0	118.0	120.0					1																	114380531		2203	4300	6503	SO:0001819	synonymous_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380531C>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1491G>T	1.37:g.114380531C>A						PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.L253L|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000525799.1_Silent_p.L370L	p.L497L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1626	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	497					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	37	c.1491G>T	CCDS863.1																																																																																				0.363	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		9	481	1	0	0.000673444	0.000673444	0.00785517	9	481				
ZNF681	148213	broad.mit.edu	37	19	23927139	23927139	+	Missense_Mutation	SNP	T	T	G	rs1852431		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23927139T>G	ENST00000402377.3	-	4	1354	c.1213A>C	c.(1213-1215)Aag>Cag	p.K405Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	405					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTTGTTAAAAGCT	0.403																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1213-1215)Aag>Cag		zinc finger protein 681							69.0	73.0	72.0					19																	23927139		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927139T>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1213A>C	19.37:g.23927139T>G	ENSP00000384000:p.Lys405Gln					ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	p.K405Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1354	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	405					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1213A>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0	-2.720447	0.00092	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07444	3.19;3.19	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.02275	-0.615	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.33033	-0.9884	9	0.02654	T	1	.	5.6438	0.17579	0.151:0.0:0.5623:0.2867	rs1852431	405	Q96N22	ZN681_HUMAN	Q	405;336	ENSP00000384000:K405Q;ENSP00000378783:K336Q	ENSP00000378783:K336Q	K	-	1	0	ZNF681	23718979	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.510000	0.00063	-2.559000	0.00474	-2.453000	0.00207	AAG		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		8	392	0	0	0	0.000422831	0	8	392				
ZNF681	148213	broad.mit.edu	37	19	23927146	23927146	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23927146A>G	ENST00000402377.3	-	4	1347	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	ZNF681_ENST00000395385.3_Silent_p.A333A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	402					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1204-1206)gcT>gcC		zinc finger protein 681							69.0	74.0	72.0					19																	23927146		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927146A>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1206T>C	19.37:g.23927146A>G						ZNF681_ENST00000395385.3_Silent_p.A333A	p.A402A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1347	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	402					B3KVF7	Silent	SNP	ENST00000402377.3	37	c.1206T>C	CCDS12414.2																																																																																				0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		7	416	0	0	0	0.000151284	0	7	416				
MDH1B	130752	broad.mit.edu	37	2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	53					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTATTCTTTTCACACACATCT	0.373																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(157-159)Gaa>Taa		malate dehydrogenase 1B, NAD (soluble)							118.0	115.0	116.0					2																	207622074		2203	4300	6503	SO:0001587	stop_gained	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207622074C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.157G>T	2.37:g.207622074C>A	ENSP00000363533:p.Glu53*					MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*	p.E53*	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	3	432	-			53					A8K8M1|Q53TK9|Q8IV51	Nonsense_Mutation	SNP	ENST00000374412.3	37	c.157G>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697252	0.15106	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	.	.	.	5.84	-1.43	0.08884	.	0.678176	0.16290	N	0.220957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.4765	6.6365	0.22885	0.113:0.437:0.0:0.4499	.	.	.	.	X	53	.	ENSP00000363533:E53X	E	-	1	0	MDH1B	207330319	0.957000	0.32711	0.889000	0.34880	0.015000	0.08874	0.114000	0.15520	0.073000	0.16731	-0.768000	0.03414	GAA		0.373	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		10	510	1	0	0.00010058	0.00010058	0.00173709	10	510				
RTN2	6253	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Silent_p.P200P|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	200					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(598-600)ccC>ccT		reticulon 2							56.0	50.0	52.0					19																	45997638		2203	4300	6503	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45997638G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.600C>T	19.37:g.45997638G>A						RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR	p.P200P	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	835	-		Ovarian(192;0.051)|all_neural(266;0.112)	200					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.600C>T	CCDS12665.1																																																																																				0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		31	193	0	0	0	0.000339439	0	31	193				
EXOC1	55763	broad.mit.edu	37	4	56744167	56744167	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000349598.6_Silent_p.R387R|EXOC1_ENST00000346134.7_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1159-1161)Cga>Aga		exocyst complex component 1							145.0	131.0	135.0					4																	56744167		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744167C>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1159C>A	4.37:g.56744167C>A						EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			9	1507	+	Glioma(25;0.08)|all_neural(26;0.101)		387					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.1159C>A	CCDS3502.1																																																																																				0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		8	427	1	0	0.000442599	0.000442599	0.00556767	8	427				
MSN	4478	broad.mit.edu	37	X	64949377	64949377	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.S90S(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGGATGTGTCCGAGGAATTGA	0.517			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	2	Substitution - coding silent(2)	p.S90S(2)	lung(1)|kidney(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(268-270)tcC>tcA		moesin							118.0	96.0	103.0					X																	64949377		2203	4300	6503	SO:0001819	synonymous_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949377C>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.270C>A	X.37:g.64949377C>A							p.S90S	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			4	442	+			90			FERM.			Silent	SNP	ENST00000360270.5	37	c.270C>A	CCDS14382.1																																																																																				0.517	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		9	508	1	0	0.000442599	0.000442599	0.00556767	9	508				
ZNF407	55628	broad.mit.edu	37	18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTACAGTTTTGGTCGATTTGA	0.423																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4060-4062)Ggt>Tgt		zinc finger protein 407							104.0	107.0	106.0					18																	72347035		1883	4119	6002	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347035G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4060G>T	18.37:g.72347035G>T	ENSP00000299687:p.Gly1354Cys					ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C	p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4060	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1354					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4060G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987151	0.53934	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13196	2.61;3.04	5.84	4.06	0.47325	.	0.195350	0.36519	N	0.002550	T	0.20007	0.0481	N	0.19112	0.55	0.32517	N	0.536824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.985	T	0.03060	-1.1077	10	0.59425	D	0.04	.	9.7588	0.40519	0.2094:0.0:0.7906:0.0	.	1354;1354;1354	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1354	ENSP00000299687:G1354C;ENSP00000310359:G1354C	ENSP00000299687:G1354C	G	+	1	0	ZNF407	70476023	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.301000	0.33447	2.754000	0.94517	0.655000	0.94253	GGT		0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		11	548	1	0	9.31168e-06	0.000151284	0.000235695	11	548				
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(64-66)acC>acA		olfactory receptor, family 5, subfamily T, member 1							93.0	103.0	100.0					11																	56043180		2201	4294	6495	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043180C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.66C>A	11.37:g.56043180C>A							p.T22T	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	152	+	Esophageal squamous(21;0.00448)		22					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.66C>A	CCDS31525.1																																																																																				0.299	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		11	705	1	0	3.86212e-05	0.000673444	0.000778902	11	705				
FAM120A	23196	broad.mit.edu	37	9	96261114	96261114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:96261114G>T	ENST00000277165.6	+	5	1170	c.976G>T	c.(976-978)Gga>Tga	p.G326*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	326						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGAGCAATTGGATATTATTC	0.353																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(976-978)Gga>Tga		family with sequence similarity 120A							167.0	171.0	170.0					9																	96261114		2203	4300	6503	SO:0001587	stop_gained	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96261114G>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.976G>T	9.37:g.96261114G>T	ENSP00000277165:p.Gly326*					FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*	p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			5	1170	+			326					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	c.976G>T	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.475131|6.475131	0.97598|0.97598	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893|ENST00000446420	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.167044|.	0.40385|.	N|.	0.001105|.	.|T	.|0.74650	.|0.3744	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73424	.|-0.3987	.|3	0.31617|.	T|.	0.26|.	-7.6021|-7.6021	18.6403|18.6403	0.91393|0.91393	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	326|168	.|.	ENSP00000277165:G326X|.	G|L	+|+	1|3	0|2	FAM120A|FAM120A	95300935|95300935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.183000|7.183000	0.77697|0.77697	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GGA|TTG		0.353	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		11	1145	1	0	0.000157383	0.000157383	0.00254253	11	1145				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				6	23	1	0	2.0095e-06	8.12818e-05	5.78958e-05	6	23				
ZFHX4	79776	broad.mit.edu	37	8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7132-7134)Gcc>Tcc		zinc finger homeobox 4							95.0	95.0	95.0					8																	77766289		1996	4157	6153	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766289G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7132G>T	8.37:g.77766289G>T	ENSP00000430497:p.Ala2378Ser	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	p.A2378S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7580	+			2333			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7132G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535947	0.27475	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.8	3.91	0.45181	.	0.861471	0.09598	U	0.780516	T	0.34483	0.0899	N	0.22421	0.69	0.21105	N	0.99978	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.18561	0.01;0.022;0.022	T	0.14839	-1.0458	10	0.10636	T	0.68	.	13.5636	0.61804	0.0765:0.0:0.9235:0.0	.	2333;2333;2378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2378;2362;2333;2333;2352	ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S	ENSP00000050961:A2333S	A	+	1	0	ZFHX4	77928844	0.860000	0.29831	0.005000	0.12908	0.896000	0.52359	4.707000	0.61852	1.210000	0.43336	0.650000	0.86243	GCC		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		47	314	1	0	1.23103e-26	0.000680045	4.96541e-25	47	314				
RSL1D1	26156	broad.mit.edu	37	16	11933615	11933615	+	Silent	SNP	G	G	T	rs144452977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(1081-1083)tcC>tcA		ribosomal L1 domain containing 1							306.0	266.0	279.0					16																	11933615		2197	4300	6497	SO:0001819	synonymous_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933615G>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1083C>A	16.37:g.11933615G>T						RSL1D1_ENST00000542106.1_Silent_p.S141S	p.S361S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			8	1155	-			361					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	c.1083C>A	CCDS10551.1																																																																																				0.398	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		10	804	1	0	9.31168e-06	0.000151284	0.000235695	10	804				
FBN2	2201	broad.mit.edu	37	5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A	rs371826887		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000508989.1_Missense_Mutation_p.T351M|FBN2_ENST00000262464.4_Missense_Mutation_p.T384M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCATTTTCGTCATTCTCCC	0.542																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1150-1152)aCg>aTg		fibrillin 2		G	MET/THR	0,4406		0,0,2203	87.0	80.0	82.0		1151	4.4	1.0	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	384/2913	127730895	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127730895G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1151C>T	5.37:g.127730895G>A	ENSP00000424571:p.Thr384Met					FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M	p.T384M			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	15	2125	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	384			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1151C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892566	0.52121	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.95412	-3.7;-3.7;-3.7	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.176842	0.36303	N	0.002669	D	0.97586	0.9209	M	0.86502	2.82	0.42420	D	0.992637	D;D	0.71674	0.998;0.984	P;P	0.60345	0.873;0.739	D	0.98218	1.0476	10	0.66056	D	0.02	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	351;384	D6RJI3;P35556	.;FBN2_HUMAN	M	384;384;351	ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M	ENSP00000262464:T384M	T	-	2	0	FBN2	127758794	1.000000	0.71417	0.959000	0.39883	0.816000	0.46133	5.699000	0.68310	2.750000	0.94351	0.655000	0.94253	ACG		0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		23	163	0	0	0	0.000229342	0	23	163				
ATRX	546	broad.mit.edu	37	X	76939312	76939312	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:76939312G>T	ENST00000373344.5	-	9	1650	c.1436C>A	c.(1435-1437)cCa>cAa	p.P479Q	ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	479					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						TTCCTCTGTTGGAACATTCTG	0.368			"""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.(1435-1437)cCa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						193.0	196.0	195.0					X																	76939312		2203	4295	6498	SO:0001583	missense	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:76939312G>T	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.1436C>A	X.37:g.76939312G>T	ENSP00000362441:p.Pro479Gln					ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	p.P479Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1650	-			479					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1436C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	3.654	-0.071015	0.07228	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91843	-2.92;-2.92	4.81	3.94	0.45596	.	1.154860	0.06338	U	0.707442	D	0.91637	0.7357	L	0.44542	1.39	0.80722	D	1	P;P;B;B	0.45212	0.612;0.853;0.429;0.303	B;P;B;B	0.47528	0.278;0.549;0.186;0.091	T	0.81050	-0.1108	10	0.33141	T	0.24	1.7015	12.5503	0.56223	0.0841:0.0:0.9159:0.0	.	479;440;441;479	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	479;441;435	ENSP00000362441:P479Q;ENSP00000378967:P441Q	ENSP00000362441:P479Q	P	-	2	0	ATRX	76825968	0.362000	0.24980	0.054000	0.19295	0.875000	0.50365	1.948000	0.40303	0.822000	0.34565	0.509000	0.49947	CCA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	1717	1	0	2.17888e-05	0.000442599	0.00047966	14	1717				
COL2A1	1280	broad.mit.edu	37	12	48390401	48390401	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:48390401G>A	ENST00000380518.3	-	8	703	c.539C>T	c.(538-540)gCt>gTt	p.A180V	COL2A1_ENST00000337299.6_Missense_Mutation_p.A111V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	180					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A180V(1)|p.A111V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CATCTGGGCAGCAAAGTTCTG	0.468																																						ENST00000380518.3																			2	Substitution - Missense(2)	p.A180V(1)|p.A111V(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(538-540)gCt>gTt		collagen, type II, alpha 1	Collagenase(DB00048)						196.0	196.0	196.0					12																	48390401		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48390401G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.539C>T	12.37:g.48390401G>A	ENSP00000369889:p.Ala180Val					COL2A1_ENST00000337299.6_Missense_Mutation_p.A111V	p.A180V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			8	703	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	180					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.539C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240783	0.58995	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90004	-2.6;-2.58	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	N	0.16368	0.405	0.58432	D	0.999997	B;B	0.34264	0.392;0.446	B;B	0.40165	0.215;0.321	D	0.84424	0.0573	10	0.66056	D	0.02	.	13.4616	0.61231	0.0:0.1584:0.8416:0.0	.	111;180	P02458-1;P02458	.;CO2A1_HUMAN	V	180;111;111	ENSP00000369889:A180V;ENSP00000338213:A111V	ENSP00000338213:A111V	A	-	2	0	COL2A1	46676668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.533000	0.81994	2.644000	0.89710	0.563000	0.77884	GCT		0.468	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		7	1030	0	0	0	8.12818e-05	0	7	1030				
OR9A4	130075	broad.mit.edu	37	7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(7-9)atG>atT		olfactory receptor, family 9, subfamily A, member 4							180.0	180.0	180.0					7																	141618684		2013	4190	6203	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618684G>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.9G>T	7.37:g.141618684G>T	ENSP00000448789:p.Met3Ile					MGAM_ENST00000497554.1_Intron	p.M3I	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	68	+	Melanoma(164;0.0171)		3					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.9G>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	6.763	0.509673	0.12883	.	.	ENSG00000258083	ENST00000548136	T	0.17213	2.29	3.33	-1.9	0.07665	.	.	.	.	.	T	0.07413	0.0187	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	9	0.72032	D	0.01	0.4043	4.3789	0.11284	0.4061:0.3203:0.2735:0.0	.	3	Q8NGU2	OR9A4_HUMAN	I	3	ENSP00000448789:M3I	ENSP00000386148:M3I	M	+	3	0	OR9A4	141265153	0.000000	0.05858	0.002000	0.10522	0.749000	0.42624	-0.453000	0.06778	-0.460000	0.07003	0.637000	0.83480	ATG		0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		9	590	1	0	0.000442599	0.000442599	0.00556767	9	590				
POU2F3	25833	broad.mit.edu	37	11	120117199	120117199	+	Missense_Mutation	SNP	C	C	A	rs150644971		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:120117199C>A	ENST00000543440.2	+	2	220	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	POU2F3_ENST00000260264.4_Missense_Mutation_p.R26S	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	24					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R24C(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CACGGATGCTCGCAGCACTCT	0.488																																						ENST00000260264.4																			1	Substitution - Missense(1)	p.R24C(1)	skin(1)	large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(76-78)Cgc>Agc		POU class 2 homeobox 3							113.0	107.0	109.0					11																	120117199		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120117199C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.70C>A	11.37:g.120117199C>A	ENSP00000441687:p.Arg24Ser					POU2F3_ENST00000543440.2_Missense_Mutation_p.R24S	p.R26S	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	2	110	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	24					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.76C>A	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174274	0.38413	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	D;D	0.83673	-1.73;-1.75	5.22	5.22	0.72569	.	.	.	.	.	T	0.75803	0.3899	N	0.22421	0.69	0.09310	N	0.999999	B	0.26602	0.154	B	0.26202	0.067	T	0.66484	-0.5912	9	0.42905	T	0.14	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	24	Q9UKI9	PO2F3_HUMAN	S	26;24	ENSP00000441687:R26S;ENSP00000260264:R24S	ENSP00000260264:R24S	R	+	1	0	POU2F3	119622409	0.033000	0.19621	0.009000	0.14445	0.556000	0.35491	3.271000	0.51608	2.443000	0.82685	0.563000	0.77884	CGC		0.488	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			7	428	1	0	0.000274275	0.000274275	0.0039602	7	428				
ZNF221	7638	broad.mit.edu	37	19	44469186	44469186	+	Silent	SNP	C	C	A	rs550036064		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:44469186C>A	ENST00000251269.5	+	4	494	c.166C>A	c.(166-168)Cga>Aga	p.R56R	ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(166-168)Cga>Aga		zinc finger protein 221							226.0	219.0	221.0					19																	44469186		2203	4300	6503	SO:0001819	synonymous_variant	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44469186C>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.166C>A	19.37:g.44469186C>A						ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	p.R56R	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			4	494	+		Prostate(69;0.0352)	56			KRAB.		B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	c.166C>A	CCDS12633.1																																																																																				0.522	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			8	832	1	0	0.000673444	0.000673444	0.00785517	8	832				
MFSD1	64747	broad.mit.edu	37	3	158523162	158523162	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:158523162G>T	ENST00000264266.8	+	3	290	c.228G>T	c.(226-228)gtG>gtT	p.V76V	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000415822.2_Silent_p.V125V			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	76					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATGCAAGTGAATACCACGA	0.328																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(373-375)gtG>gtT		major facilitator superfamily domain containing 1							206.0	190.0	196.0					3																	158523162		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158523162G>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.228G>T	3.37:g.158523162G>T						MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Silent_p.V76V	p.V125V	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	516	+			76					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.375G>T																																																																																					0.328	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		12	776	1	0	0.000219431	0.000219431	0.00342116	12	776				
TET1	80312	broad.mit.edu	37	10	70450608	70450608	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1816					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGTGAAACCGAACCCCATT	0.428																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5446-5448)acC>acA		tet methylcytosine dioxygenase 1							84.0	87.0	86.0					10																	70450608		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450608C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5448C>A	10.37:g.70450608C>A							p.T1816T	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	5657	+			1816					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5448C>A	CCDS7281.1																																																																																				0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	455	1	0	0.000673444	0.000673444	0.00785517	8	455				
DDX4	54514	broad.mit.edu	37	5	55109582	55109582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:55109582C>A	ENST00000505374.1	+	19	1789	c.1697C>A	c.(1696-1698)tCa>tAa	p.S566*	DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	566	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAAATATCAACTACAAGT	0.284																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1696-1698)tCa>tAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							69.0	83.0	78.0					5																	55109582		2201	4295	6496	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55109582C>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1697C>A	5.37:g.55109582C>A	ENSP00000424838:p.Ser566*					DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*	p.S566*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			19	1789	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	566			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1697C>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	38	6.851968	0.97885	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	.	.	.	6.17	6.17	0.99709	.	0.279673	0.36167	N	0.002759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.1506	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	532;546;566;532;417	.	ENSP00000334167:S532X	S	+	2	0	DDX4	55145339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.688000	0.54699	2.941000	0.99782	0.655000	0.94253	TCA		0.284	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		9	524	1	0	1.12685e-05	0.000274275	0.000275198	9	524				
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75.0	76.0	75.0					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395839.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		8	349	0	0	0	0.000673444	0	8	349				
OR8H1	219469	broad.mit.edu	37	11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(208-210)Gac>Tac		olfactory receptor, family 8, subfamily H, member 1							274.0	262.0	266.0					11																	56058331		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058331C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.208G>T	11.37:g.56058331C>A	ENSP00000323595:p.Asp70Tyr						p.D70Y	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	235	-	Esophageal squamous(21;0.00448)		70					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.208G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920585	0.33908	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01185	5.21	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.11879	0.0289	H	0.96777	3.88	0.39098	D	0.961238	D	0.71674	0.998	D	0.66979	0.948	T	0.25606	-1.0127	10	0.87932	D	0	.	16.4739	0.84127	0.0:1.0:0.0:0.0	.	70	Q8NGG4	OR8H1_HUMAN	Y	70;66	ENSP00000323595:D70Y	ENSP00000323595:D70Y	D	-	1	0	OR8H1	55814907	0.997000	0.39634	0.932000	0.37286	0.004000	0.04260	4.149000	0.58091	2.147000	0.66899	0.544000	0.68410	GAC		0.413	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		12	1069	1	0	0.000673444	0.000673444	0.00785517	12	1069				
STAT4	6775	broad.mit.edu	37	2	191898700	191898700	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:191898700C>A	ENST00000392320.2	-	19	1966	c.1652G>T	c.(1651-1653)tGg>tTg	p.W551L	STAT4_ENST00000358470.4_Missense_Mutation_p.W551L|AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000470708.1_5'Flank	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	551					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGCCATGTCCAAAAGGTAAA	0.289																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1651-1653)tGg>tTg		signal transducer and activator of transcription 4							124.0	132.0	130.0					2																	191898700		2203	4294	6497	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191898700C>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1652G>T	2.37:g.191898700C>A	ENSP00000376134:p.Trp551Leu					STAT4_ENST00000358470.4_Missense_Mutation_p.W551L	p.W551L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		19	1966	-			551					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1652G>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906762	0.92107	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.95377	-3.69;-3.69	5.65	5.65	0.86999	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98574	1.0647	10	0.87932	D	0	-36.5705	20.0845	0.97795	0.0:1.0:0.0:0.0	.	460;551;551	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	L	551	ENSP00000351255:W551L;ENSP00000376134:W551L	ENSP00000351255:W551L	W	-	2	0	STAT4	191606945	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.010000	0.76353	2.821000	0.97095	0.650000	0.86243	TGG		0.289	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		10	709	1	0	6.40141e-05	6.40141e-05	0.00117365	10	709				
TNXB	7148	broad.mit.edu	37	6	32046907	32046907	+	Silent	SNP	G	G	T	rs375254727		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1513	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCTCCCACGGTGACCTCAC	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4276-4278)acC>acA		tenascin XB							84.0	97.0	93.0					6																	32046907		1309	2566	3875	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046907G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4278C>A	6.37:g.32046907G>T						TNXB_ENST00000375247.2_Silent_p.T1426T	p.T1426T			P22105	TENX_HUMAN			11	4479	-			1513			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4278C>A																																																																																					0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	453	1	0	3.86212e-05	0.000673444	0.000778902	10	453				
DIO1	1733	broad.mit.edu	37	1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	131					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CATTTATGTTCAAATTTGACC	0.393																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(391-393)ttC>ttA		deiodinase, iodothyronine, type I							271.0	244.0	253.0					1																	54370394		1907	4123	6030	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54370394C>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.393C>A	1.37:g.54370394C>A	ENSP00000354643:p.Phe131Leu					DIO1_ENST00000532493.1_Intron|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L	p.F131L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN			2	417	+			131					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.393C>A	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595138	0.28445	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000525202;ENST00000524406	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.57;1.57	5.37	3.49	0.39957	Thioredoxin-like fold (1);	0.395803	0.20764	N	0.086110	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15930	0.002;0.002;0.015	B;B;B	0.15484	0.002;0.003;0.013	T	0.04946	-1.0916	10	0.11182	T	0.66	.	6.6538	0.22977	0.1409:0.6659:0.1215:0.0717	.	131;131;67	P49895-5;P49895;P49895-2	.;IOD1_HUMAN;.	L	88;131;131;67;2	ENSP00000432797:F88L;ENSP00000354643:F131L;ENSP00000323198:F131L;ENSP00000435725:F67L;ENSP00000434152:F2L	ENSP00000323198:F131L	F	+	3	2	DIO1	54142982	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.814000	0.27239	0.637000	0.30526	0.655000	0.94253	TTC		0.393	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			12	696	1	0	7.93312e-07	0.000219431	2.45534e-05	12	696				
ASH1L	55870	broad.mit.edu	37	1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGAGTGATCCGAATTTCACT	0.393																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3904-3906)cGg>cTg		ash1 (absent, small, or homeotic)-like (Drosophila)							100.0	105.0	103.0					1																	155448756		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448756C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3905G>T	1.37:g.155448756C>A	ENSP00000357330:p.Arg1302Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L	p.R1302L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4544	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1302					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3905G>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816696	0.70912	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91068	-2.78;-2.78	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.91199	0.7227	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	D	0.92702	0.6175	10	0.87932	D	0	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1302	ENSP00000357330:R1302L;ENSP00000376204:R1302L	ENSP00000357330:R1302L	R	-	2	0	ASH1L	153715380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.555000	0.86185	0.591000	0.81541	CGG		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	560	1	0	6.40141e-05	6.40141e-05	0.00117365	10	560				
VPS13B	157680	broad.mit.edu	37	8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000358544.2	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTAGCAACTGATTTGGTGCT	0.274																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(586-588)Gat>Tat		vacuolar protein sorting 13 homolog B (yeast)							57.0	60.0	59.0					8																	100123331		2193	4298	6491	SO:0001583	missense	157680				protein transport			g.chr8:100123331G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.586G>T	8.37:g.100123331G>T	ENSP00000351346:p.Asp196Tyr					VPS13B_ENST00000358544.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y	p.D196Y			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		6	697	+	Breast(36;3.73e-07)		196					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.586G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352102	0.82132	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.45;-0.45;-0.16;-1.73	5.32	5.32	0.75619	.	0.058121	0.64402	D	0.000004	D	0.89196	0.6646	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.999;0.98	D;D;D;D;P	0.68039	0.939;0.915;0.911;0.955;0.804	D	0.90092	0.4178	10	0.87932	D	0	.	18.9995	0.92828	0.0:0.0:1.0:0.0	.	196;196;196;196;196	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	196	ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y	ENSP00000347281:D196Y	D	+	1	0	VPS13B	100192507	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.588000	0.98232	2.479000	0.83701	0.555000	0.69702	GAT		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	318	1	0	3.07112e-06	6.40141e-05	8.57171e-05	9	318				
NRXN1	9378	broad.mit.edu	37	2	50765565	50765565	+	Silent	SNP	G	G	T	rs200844126		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:50765565G>T	ENST00000406316.2	-	10	3445	c.1969C>A	c.(1969-1971)Cgg>Agg	p.R657R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000404971.1_Silent_p.R697R|NRXN1_ENST00000401669.2_Silent_p.R657R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCATTTGCCGGATATCTTTG	0.502																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2089-2091)Cgg>Agg		neurexin 1							262.0	273.0	269.0					2																	50765565		2194	4294	6488	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765565G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1969C>A	2.37:g.50765565G>T						NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000401669.2_Silent_p.R657R	p.R697R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3428	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	657			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2089C>A	CCDS54360.1																																																																																				0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			12	1285	1	0	0.000274275	0.000274275	0.0039602	12	1285				
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130.0	132.0	131.0					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	735	0	0	0	8.12818e-05	0	6	735				
VCAN	1462	broad.mit.edu	37	5	82868255	82868255	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:82868255C>A	ENST00000265077.3	+	13	10321	c.9756C>A	c.(9754-9756)ccC>ccA	p.P3252P	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN_ENST00000502527.2_Silent_p.P511P|VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN_ENST00000343200.5_Silent_p.P2265P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3252	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTGGAGACCCAACCAGCCAG	0.423																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9754-9756)ccC>ccA		versican							131.0	131.0	131.0					5																	82868255		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82868255C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9756C>A	5.37:g.82868255C>A						VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000502527.2_Silent_p.P511P	p.P3252P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	13	10321	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3252			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9756C>A	CCDS4060.1																																																																																				0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		8	630	1	0	1.58986e-06	0.000673444	4.62318e-05	8	630				
DNTT	1791	broad.mit.edu	37	10	98092312	98092312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:98092312G>T	ENST00000371174.2	+	9	1420	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.E440*			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	440	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTGCCCCTACGAGCGTCGTGC	0.542																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1318-1320)Gag>Tag		DNA nucleotidylexotransferase							210.0	178.0	189.0					10																	98092312		2203	4300	6503	SO:0001587	stop_gained	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98092312G>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1318G>T	10.37:g.98092312G>T	ENSP00000360216:p.Glu440*					DNTT_ENST00000371174.2_Nonsense_Mutation_p.E440*	p.E440*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	9	1488	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	440			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	ENST00000371174.2	37	c.1318G>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016755	0.93404	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.81	4.9	0.64082	.	0.293454	0.37577	N	0.002031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.7521	14.7956	0.69876	0.0:0.1449:0.8551:0.0	.	.	.	.	X	440	.	ENSP00000360216:E440X	E	+	1	0	DNTT	98082302	1.000000	0.71417	0.062000	0.19696	0.261000	0.26267	7.045000	0.76585	1.452000	0.47756	0.655000	0.94253	GAG		0.542	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		8	576	1	0	0.000673444	0.000673444	0.00785517	8	576				
HTR3A	3359	broad.mit.edu	37	11	113856786	113856786	+	Silent	SNP	C	C	A	rs375398394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	198					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGGTGAAATCCGACAGGAGTG	0.502																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(592-594)tcC>tcA		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						190.0	199.0	196.0					11																	113856786		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856786C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.594C>A	11.37:g.113856786C>A						HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Silent_p.S204S	p.S198S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1039	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	198					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.594C>A																																																																																					0.502	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		10	894	1	0	0.000442599	0.000442599	0.00556767	10	894				
PCP4	5121	broad.mit.edu	37	21	41300976	41300976	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463																																						ENST00000328619.5																			1	Substitution - coding silent(1)	p.A43A(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(127-129)gcG>gcA		Purkinje cell protein 4							102.0	94.0	97.0					21																	41300976		2203	4300	6503	SO:0001819	synonymous_variant	5121				central nervous system development	cytosol|nucleus		g.chr21:41300976G>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.129G>A	21.37:g.41300976G>A						PCP4_ENST00000468717.1_3'UTR	p.A43A	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN			3	314	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	43			IQ.		A6NDJ9|Q6ICS4|Q93059	Silent	SNP	ENST00000328619.5	37	c.129G>A	CCDS33563.1																																																																																				0.463	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		25	322	0	0	0	0.000227799	0	25	322				
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413																																						ENST00000431561.3																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						c.(736-738)cGg>cTg		zinc finger protein 200							124.0	115.0	118.0					16																	3274343		2197	4300	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274343C>A	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.737G>T	16.37:g.3274343C>A	ENSP00000395723:p.Arg246Leu					ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L	p.R246L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN			5	1349	-			246					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.737G>T	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650617	0.14516	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07216	3.21;3.24;3.25;3.31	5.17	2.19	0.27852	.	0.401360	0.18508	N	0.139141	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31485	0.218;0.218;0.325	B;B;B	0.32724	0.072;0.072;0.151	T	0.31392	-0.9945	10	0.66056	D	0.02	-20.7119	6.6597	0.23007	0.0:0.631:0.0:0.369	.	245;246;245	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	L	246;245;245;245;246	ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L	ENSP00000380077:R245L	R	-	2	0	ZNF200	3214344	0.037000	0.19845	0.016000	0.15963	0.707000	0.40811	0.023000	0.13533	0.348000	0.23949	0.455000	0.32223	CGG		0.413	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			7	560	1	0	0.000274275	0.000274275	0.0039602	7	560				
PTPRA	5786	broad.mit.edu	37	20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2107-2109)atC>atG		protein tyrosine phosphatase, receptor type, A							100.0	91.0	94.0					20																	3016525		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3016525C>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2109C>G	20.37:g.3016525C>G	ENSP00000216877:p.Ile703Met					PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M	p.I703M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			21	2509	+			712			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2109C>G	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091247	0.55968	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.57	4.63	0.57726	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.060068	0.64402	U	0.000008	T	0.13030	0.0316	N	0.13140	0.3	0.54753	D	0.999987	B;P;B	0.49559	0.024;0.925;0.13	B;P;B	0.53549	0.03;0.729;0.158	T	0.12319	-1.0552	10	0.42905	T	0.14	.	14.6291	0.68643	0.0:0.9297:0.0:0.0703	.	723;712;703	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	712;703;712;568;322;723;703;703	ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M	ENSP00000216877:I703M	I	+	3	3	PTPRA	2964525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	1.339000	0.45563	0.563000	0.77884	ATC		0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			60	273	0	0	0	0.000781405	0	60	273				
ZNF511	118472	broad.mit.edu	37	10	135126314	135126314	+	3'UTR	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:135126314G>T	ENST00000359035.3	+	0	1652				ZNF511_ENST00000361518.5_Missense_Mutation_p.G235C|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CATCTGCTTTGGTCAGGGTGC	0.473																																						ENST00000361518.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(703-705)Ggt>Tgt		zinc finger protein 511							181.0	191.0	188.0					10																	135126314		2203	4300	6503	SO:0001624	3_prime_UTR_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135126314G>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.*860G>T	10.37:g.135126314G>T						ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000359035.3_3'UTR|ZNF511_ENST00000368554.4_Intron	p.G235C	NM_145806.2	NP_665805.2	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	6	1172	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	0					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.703G>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.947330	0.73672	.	.	ENSG00000198546	ENST00000361518	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	T	0.79088	0.4387	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82080	-0.0634	7	0.87932	D	0	.	15.0696	0.72024	0.0:0.0:1.0:0.0	.	235	Q8NB15-2	.	C	235	.	ENSP00000355251:G235C	G	+	1	0	ZNF511	134976304	1.000000	0.71417	0.923000	0.36655	0.675000	0.39556	7.514000	0.81750	2.408000	0.81797	0.655000	0.94253	GGT		0.473	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		10	968	1	0	6.40141e-05	6.40141e-05	0.00117365	10	968				
DEK	7913	broad.mit.edu	37	6	18222194	18222194	+	IGR	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:18222194C>A	ENST00000397239.3	-	0	3427				KDM1B_ENST00000388870.2_Silent_p.R815R|KDM1B_ENST00000546309.2_Silent_p.R105R|KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000397244.1_Silent_p.R583R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene						chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GAGTGGCGTTCGAGAAGCAAG	0.403			T	NUP214	AML																																	ENST00000388870.2				Dom	yes		6	6p23	7913		DEK oncogene (DNA binding)			L					0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2443-2445)Cga>Aga		lysine (K)-specific demethylase 1B							160.0	151.0	154.0					6																	18222194		2203	4300	6503	SO:0001628	intergenic_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18222194C>A	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319		6.37:g.18222194C>A						KDM1B_ENST00000397244.1_Silent_p.R583R|KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000546309.2_Silent_p.R105R	p.R815R			Q8NB78	KDM1B_HUMAN			22	2684	+			814					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Silent	SNP	ENST00000397239.3	37	c.2443C>A	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	9.377	1.071910	0.20147	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.72179	0.3428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68588	-0.5369	4	.	.	.	-6.628	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	L	631	.	.	F	+	3	2	KDM1B	18330173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.740000	0.68629	2.824000	0.97209	0.655000	0.94253	TTC		0.403	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			9	515	1	0	6.40141e-05	6.40141e-05	0.00117365	9	515				
MCF2L2	23101	broad.mit.edu	37	3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	997							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTGGAGGCCGGGTCTTCCTT	0.493																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2989-2991)cCg>cAg		MCF.2 cell line derived transforming sequence-like 2							205.0	179.0	188.0					3																	182910813		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182910813G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2990C>A	3.37:g.182910813G>T	ENSP00000328118:p.Pro997Gln					MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q|MCF2L2_ENST00000468976.1_5'UTR	p.P997Q	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		27	3287	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		997					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2990C>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558511	0.27827	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01787	4.64;4.65	2.97	2.97	0.34412	.	1.214100	0.06023	N	0.651619	T	0.02455	0.0075	N	0.19112	0.55	0.31814	N	0.626829	D	0.53619	0.961	P	0.48454	0.578	T	0.46965	-0.9153	10	0.27785	T	0.31	.	9.6801	0.40065	0.0:0.0:1.0:0.0	.	997	Q86YR7	MF2L2_HUMAN	Q	997	ENSP00000328118:P997Q;ENSP00000420070:P997Q	ENSP00000328118:P997Q	P	-	2	0	MCF2L2	184393507	0.000000	0.05858	0.091000	0.20842	0.066000	0.16364	0.072000	0.14617	1.953000	0.56701	0.467000	0.42956	CCG		0.493	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		8	519	1	0	0.000673444	0.000673444	0.00785517	8	519				
AOX1	316	broad.mit.edu	37	2	201534342	201534342	+	Missense_Mutation	SNP	C	C	A	rs150685936	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201534342C>A	ENST00000374700.2	+	34	4084	c.3843C>A	c.(3841-3843)ttC>ttA	p.F1281L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1281					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3841-3843)ttC>ttA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						201.0	197.0	198.0					2																	201534342		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201534342C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3843C>A	2.37:g.201534342C>A	ENSP00000363832:p.Phe1281Leu					AOX1_ENST00000485106.1_3'UTR	p.F1281L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			34	4084	+			1281					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3843C>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631444	0.46944	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.69306	-0.39;-0.39;-0.39	5.41	-4.33	0.03677	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.107097	0.64402	D	0.000004	T	0.65647	0.2711	M	0.76328	2.33	0.58432	D	0.999999	B	0.24721	0.11	B	0.32289	0.143	T	0.58142	-0.7688	10	0.54805	T	0.06	-35.6289	16.4908	0.84200	0.0:0.1033:0.0:0.8967	.	1281	Q06278	ADO_HUMAN	L	1281;145;121	ENSP00000363832:F1281L;ENSP00000260930:F145L;ENSP00000413326:F121L	ENSP00000260930:F145L	F	+	3	2	AOX1	201242587	0.610000	0.26983	0.827000	0.32855	0.299000	0.27559	-0.236000	0.09003	-0.991000	0.03476	0.557000	0.71058	TTC		0.522	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		10	771	1	0	6.40141e-05	6.40141e-05	0.00117365	10	771				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		8	1033	0	0	0	3.59834e-05	0	8	1033				
THOC2	57187	broad.mit.edu	37	X	122800961	122800961	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:122800961G>T	ENST00000245838.8	-	11	1217	c.1186C>A	c.(1186-1188)Cga>Aga	p.R396R	THOC2_ENST00000491737.1_Silent_p.R281R|THOC2_ENST00000355725.4_Silent_p.R396R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	396					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACATACCTTCGGTAGAGAGGC	0.348																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1186-1188)Cga>Aga		THO complex 2							109.0	94.0	99.0					X																	122800961		1862	4080	5942	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122800961G>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1186C>A	X.37:g.122800961G>T						THOC2_ENST00000355725.4_Silent_p.R396R|THOC2_ENST00000491737.1_Silent_p.R281R	p.R396R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			11	1217	-			396					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.1186C>A	CCDS43988.1																																																																																				0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			10	871	1	0	0.000442599	0.000442599	0.00556767	10	871				
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A	rs184895201		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000370010.2_Silent_p.R1065R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125.0	118.0	120.0					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	6.37:g.76425185C>A						SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000447266.2_Silent_p.R1072R	p.R1072R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			24	3833	+		all_hematologic(105;0.189)	1072			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.3214C>A	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		9	469	1	0	7.48243e-07	0.000442599	2.35076e-05	9	469				
PSG3	5671	broad.mit.edu	37	19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(499-501)ttA>ttC		pregnancy specific beta-1-glycoprotein 3							206.0	201.0	203.0					19																	43237144		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237144T>G		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.501A>C	19.37:g.43237144T>G	ENSP00000332215:p.Leu167Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	p.L167F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	685	-		Prostate(69;0.00682)	167			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.501A>C	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	9.036	0.988549	0.18966	.	.	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.59	0.52	0.17040	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33411	0.0862	M	0.64170	1.965	0.09310	N	1	D;B	0.64830	0.994;0.395	D;B	0.70227	0.968;0.316	T	0.14896	-1.0456	9	0.34782	T	0.22	.	2.9502	0.05859	0.0:0.277:0.0:0.723	.	145;167	Q08266;Q16557	.;PSG3_HUMAN	F	167	ENSP00000332215:L167F	ENSP00000332215:L167F	L	-	3	2	PSG3	47928984	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.662000	0.05305	0.725000	0.32318	0.324000	0.21423	TTA		0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		29	895	0	0	0	0.000409698	0	29	895				
TTLL6	284076	broad.mit.edu	37	17	46862366	46862366	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1957-1959)tcG>tcA		tubulin tyrosine ligase-like family, member 6							126.0	126.0	126.0					17																	46862366		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862366C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1959G>A	17.37:g.46862366C>T						TTLL6_ENST00000433608.2_Silent_p.S346S	p.S653S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			13	2100	-			605						Silent	SNP	ENST00000393382.3	37	c.1959G>A	CCDS45724.1																																																																																				0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		70	398	0	0	0	0.000781405	0	70	398				
CBX4	8535	broad.mit.edu	37	17	77808649	77808649	+	Silent	SNP	G	G	T	rs369332437		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:77808649G>T	ENST00000269397.4	-	5	969	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	264	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTCATCACGATCACGATGC	0.582											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(790-792)atC>atA		chromobox homolog 4							259.0	237.0	244.0					17																	77808649		2201	4297	6498	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808649G>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.792C>A	17.37:g.77808649G>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.I264I	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	969	-			264			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.792C>A	CCDS32758.1																																																																																				0.582	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		13	1259	1	0	7.48243e-07	0.000442599	2.35076e-05	13	1259				
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000333229.2	-	37	4649	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4321-4323)cGg>cTg		bromodomain and WD repeat domain containing 1							126.0	133.0	130.0					21																	40578076		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578076C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4322G>T	21.37:g.40578076C>A	ENSP00000330753:p.Arg1441Leu					BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441L	p.R1441L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4400	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4322G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126374	0.20959	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.59224	0.28;0.31;0.38	4.87	2.09	0.27110	.	0.173450	0.35970	N	0.002879	T	0.49150	0.1540	L	0.58101	1.795	0.09310	N	1	P;P;B	0.41546	0.632;0.754;0.358	B;B;B	0.38428	0.273;0.256;0.067	T	0.44952	-0.9294	10	0.72032	D	0.01	-0.1605	7.9196	0.29837	0.0:0.6:0.0:0.4	.	1441;1441;1441	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	L	1441;1441;1441;397	ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L	ENSP00000330753:R1441L	R	-	2	0	BRWD1	39499946	0.025000	0.19082	0.345000	0.25642	0.581000	0.36288	0.356000	0.20181	0.141000	0.18875	-0.258000	0.10820	CGG		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		9	869	1	0	0.000673444	0.000673444	0.00785517	9	869				
IKZF1	10320	broad.mit.edu	37	7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(622-624)Cga>Tga		IKAROS family zinc finger 1 (Ikaros)							55.0	55.0	55.0					7																	50455075		1865	4095	5960	SO:0001587	stop_gained	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50455075C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.622C>T	7.37:g.50455075C>T	ENSP00000331614:p.Arg208*					IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*	p.R208*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			6	777	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	208					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	37	c.622C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.427115	0.98279	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6208	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	121;208;121	.	ENSP00000331614:R208X	R	+	1	2	IKZF1	50422569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CGA		0.473	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		19	124	0	0	0	9.7654e-05	0	19	124				
PDSS1	23590	broad.mit.edu	37	10	26998640	26998640	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:26998640G>T	ENST00000376215.5	+	5	463	c.410G>T	c.(409-411)cGa>cTa	p.R137L	PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAAGCCTTTCGACCAATTATT	0.383																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(409-411)cGa>cTa		prenyl (decaprenyl) diphosphate synthase, subunit 1							146.0	146.0	146.0					10																	26998640		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26998640G>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.410G>T	10.37:g.26998640G>T	ENSP00000365388:p.Arg137Leu					PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			5	463	+			137					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.410G>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249578	0.95305	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D;D	0.89123	-2.47;-2.47	5.26	5.26	0.73747	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	H	0.99764	4.76	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.78314	0.991;0.957	D	0.99305	1.0902	10	0.87932	D	0	-16.9866	18.8227	0.92103	0.0:0.0:1.0:0.0	.	137;137	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	L	137;137;98	ENSP00000365388:R137L;ENSP00000365376:R137L	ENSP00000365376:R137L	R	+	2	0	PDSS1	27038646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.280000	0.95786	2.619000	0.88677	0.650000	0.86243	CGA		0.383	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			11	667	1	0	0.000151284	0.000151284	0.00252221	11	667				
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.e10-1		DAZ interacting zinc finger protein 3							65.0	67.0	67.0					3																	108353719		2198	4295	6493	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353719G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>C	3.37:g.108353719G>C						DZIP3_ENST00000463306.1_Splice_Site_p.G273_splice	p.G273_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			10	1048	+			273					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	37	c.816_splice	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934030	0.52866	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.30885	0.0779	N	0.19112	0.55	0.39140	D	0.96201	P	0.38020	0.615	B	0.37480	0.251	T	0.33111	-0.9881	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	A	273	ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A	ENSP00000355028:G273A	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA		0.254	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Missense_Mutation	13	318	0	0	0	0.000219431	0	13	318				
SUPT5H	6829	broad.mit.edu	37	19	39963541	39963541	+	Silent	SNP	C	C	A	rs146582409	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:39963541C>A	ENST00000599117.1	+	23	2494	c.2127C>A	c.(2125-2127)acC>acA	p.T709T	SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T|SUPT5H_ENST00000359191.6_Silent_p.T705T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	709	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGGCCAGACCGTGCGCATCT	0.677																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2125-2127)acC>acA		suppressor of Ty 5 homolog (S. cerevisiae)							47.0	47.0	47.0					19																	39963541		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963541C>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2127C>A	19.37:g.39963541C>A						SUPT5H_ENST00000359191.6_Silent_p.T705T|SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T	p.T709T			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2494	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		709			KOW 5.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2127C>A	CCDS12536.1																																																																																				0.677	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		5	180	1	0	8.12818e-05	8.12818e-05	0.00148589	5	180				
WWC3	55841	broad.mit.edu	37	X	10090729	10090729	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	567					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CATGTCTGTCGGATTATTCGC	0.522																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1699-1701)tcG>tcT		WWC family member 3							258.0	234.0	242.0					X																	10090729		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10090729G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1701G>T	X.37:g.10090729G>T						WWC3_ENST00000454666.1_Silent_p.S567S	p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			12	2092	+			567					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1701G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186238	0.01620	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7766	1.7556	0.02981	0.4469:0.1995:0.1384:0.2152	.	.	.	.	X	572	.	.	G	+	1	0	WWC3	10050729	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-1.599000	0.02085	-3.243000	0.00206	-0.926000	0.02714	GGA		0.522	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		14	1297	1	0	0.000274275	0.000274275	0.0039602	14	1297				
B4GALT2	8704	broad.mit.edu	37	1	44455983	44455983	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:44455983C>A	ENST00000356836.6	+	7	1772	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K|CCDC24_ENST00000372318.3_5'Flank	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	328					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TACCAAGATTCAAAACACGAA	0.473																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(982-984)Caa>Aaa		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						234.0	259.0	250.0					1																	44455983		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455983C>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.982C>A	1.37:g.44455983C>A	ENSP00000349293:p.Gln328Lys					B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K	p.Q328K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			7	1772	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	328					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.982C>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291477	0.10567	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.37630	1.12	0.54753	D	0.999985	B;B;B	0.24882	0.013;0.113;0.069	B;B;B	0.26517	0.004;0.07;0.032	T	0.04650	-1.0936	10	0.05721	T	0.95	-5.8311	15.6663	0.77234	0.1383:0.8617:0.0:0.0	.	357;262;328	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	K	328;262;328;357	ENSP00000361399:Q328K;ENSP00000407468:Q262K;ENSP00000349293:Q328K;ENSP00000310696:Q357K	ENSP00000310696:Q357K	Q	+	1	0	B4GALT2	44228570	0.962000	0.33011	1.000000	0.80357	0.990000	0.78478	1.823000	0.39062	1.356000	0.45884	0.543000	0.68304	CAA		0.473	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		14	1226	1	0	5.3912e-06	0.00074312	0.000142319	14	1226				
ZBED9	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1117-1119)tCa>tAa		SCAN domain containing 3							114.0	117.0	116.0					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543364G>T																												ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*						p.S373*	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1735	-			373			Integrase catalytic.			Nonsense_Mutation	SNP	ENST00000452236.2	37	c.1118C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			9	548	1	0	1.12685e-05	0.000274275	0.000275198	9	548				
ASB15	142685	broad.mit.edu	37	7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000275699.3_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1042-1044)Gat>Aat		ankyrin repeat and SOCS box containing 15							178.0	161.0	167.0					7																	123269090		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269090G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1042G>A	7.37:g.123269090G>A	ENSP00000397655:p.Asp348Asn					ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N	p.D348N			Q8WXK1	ASB15_HUMAN			12	1563	+			348					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1042G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286594	0.95517	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.11789	0.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.26408	T	0.33	-59.0637	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348	Q8WXK1	ASB15_HUMAN	N	348;348;348;348;137;348	ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N	ENSP00000275699:D348N	D	+	1	0	ASB15	123056326	1.000000	0.71417	0.606000	0.28943	0.963000	0.63663	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GAT		0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			72	525	0	0	0	0.000781405	0	72	525				
ZNF217	7764	broad.mit.edu	37	20	52193233	52193233	+	Silent	SNP	G	G	T	rs377601068		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF217_ENST00000302342.3_Silent_p.S690S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	690					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGCCCCCACGGATAAATTTA	0.428																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2068-2070)tcC>tcA		zinc finger protein 217							90.0	99.0	96.0					20																	52193233		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193233G>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2070C>A	20.37:g.52193233G>T						ZNF217_ENST00000302342.3_Silent_p.S690S	p.S690S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2495	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		690					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.2070C>A	CCDS13443.1																																																																																				0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		11	595	1	0	0.00010058	0.00010058	0.00173709	11	595				
PAXBP1	94104	broad.mit.edu	37	21	34109641	34109641	+	Silent	SNP	G	G	T	rs199507974		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:34109641G>T	ENST00000331923.4	-	17	2749	c.2560C>A	c.(2560-2562)Cga>Aga	p.R854R	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	854					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAAGGTATCGGCAAAAGTTT	0.343																																						ENST00000331923.4																			0											c.(2560-2562)Cga>Aga		PAX3 and PAX7 binding protein 1							80.0	78.0	79.0					21																	34109641		2203	4298	6501	SO:0001819	synonymous_variant	94104							g.chr21:34109641G>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2560C>A	21.37:g.34109641G>T						PAXBP1-AS1_ENST00000440052.1_RNA	p.R854R	NM_016631.3	NP_057715.2					17	2749	-								D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	c.2560C>A	CCDS13619.1																																																																																				0.343	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		9	424	1	0	0.000442599	0.000442599	0.00556767	9	424				
TRIM42	287015	broad.mit.edu	37	3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R245C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCAACAAGCGCATCGCTTA	0.617																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.R245C(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(733-735)Cgc>Tgc		tripartite motif containing 42							81.0	77.0	78.0					3																	140401695		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401695C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.733C>T	3.37:g.140401695C>T	ENSP00000286349:p.Arg245Cys						p.R245C	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	924	+			245					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.733C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565527	0.27915	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.2	3.2	0.36748	.	0.322034	0.24884	N	0.034840	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	0.999999	D	0.71674	0.998	P	0.47528	0.549	T	0.26467	-1.0102	10	0.87932	D	0	-34.1415	9.6896	0.40120	0.4607:0.5393:0.0:0.0	.	245	Q8IWZ5	TRI42_HUMAN	C	245	ENSP00000286349:R245C	ENSP00000286349:R245C	R	+	1	0	TRIM42	141884385	0.002000	0.14202	0.157000	0.22605	0.010000	0.07245	1.370000	0.34238	1.193000	0.43086	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		42	348	0	0	0	0.000509022	0	42	348				
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74.0	81.0	78.0					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		6	336	0	0	0	3.59834e-05	0	6	336				
GATA2	2624	broad.mit.edu	37	3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAGGGCAGCTGCACTGAAGGG	0.612			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1288-1290)gCa>gAa		GATA binding protein 2							131.0	114.0	119.0					3																	128200016		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200016G>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1289C>A	3.37:g.128200016G>T	ENSP00000345681:p.Ala430Glu					GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000489987.1_5'UTR	p.A430E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1620	-			430					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.1289C>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846692	0.51164	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.33;-4.32;-4.33	4.77	4.77	0.60923	.	0.238659	0.42294	D	0.000725	D	0.94202	0.8139	L	0.29908	0.895	0.50039	D	0.999841	P;B	0.36535	0.557;0.049	B;B	0.36845	0.234;0.044	D	0.93760	0.7066	10	0.36615	T	0.2	-15.2932	18.1584	0.89701	0.0:0.0:1.0:0.0	.	416;430	P23769-2;P23769	.;GATA2_HUMAN	E	430;416;430	ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E	ENSP00000345681:A430E	A	-	2	0	GATA2	129682706	1.000000	0.71417	0.603000	0.28903	0.746000	0.42486	3.841000	0.55850	2.355000	0.79922	0.491000	0.48974	GCA		0.612	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		29	284	1	0	1.80694e-10	0.000279167	7.01678e-09	29	284				
DEPDC1	55635	broad.mit.edu	37	1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	652	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAACACACATCGAGAAAAGGT	0.333																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1954-1956)cGa>cTa		DEP domain containing 1							56.0	51.0	52.0					1																	68944984		2203	4298	6501	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68944984C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1955G>T	1.37:g.68944984C>A	ENSP00000412292:p.Arg652Leu					RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L	p.R652L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	10	2069	-			652			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1955G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981842	0.93044	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.40476	1.03;1.03	5.67	5.67	0.87782	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.060315	0.64402	D	0.000001	T	0.61211	0.2329	M	0.76328	2.33	0.41882	D	0.990322	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.979	T	0.63651	-0.6589	10	0.66056	D	0.02	0.652	19.76	0.96311	0.0:1.0:0.0:0.0	.	652;368	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	L	652;368	ENSP00000412292:R652L;ENSP00000360005:R368L	ENSP00000360005:R368L	R	-	2	0	DEPDC1	68717572	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.996000	0.76263	2.670000	0.90874	0.585000	0.79938	CGA		0.333	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		6	221	1	0	0.000157383	0.000157383	0.00254253	6	221				
KIAA2022	340533	broad.mit.edu	37	X	73963428	73963428	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438																																						ENST00000373468.1																			1	Substitution - Nonsense(1)	p.R322*(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(964-966)Cga>Aga		KIAA2022							91.0	78.0	83.0					X																	73963428		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963428G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.964C>A	X.37:g.73963428G>T						KIAA2022_ENST00000055682.5_Silent_p.R322R	p.R322R			Q5QGS0	K2022_HUMAN			3	1615	-			322					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.964C>A	CCDS35337.1																																																																																				0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	592	1	0	0.000274275	0.000274275	0.0039602	8	592				
NXF5	55998	broad.mit.edu	37	X	101097757	101097757	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:101097757C>A	ENST00000361708.2	-	3	367	c.8G>T	c.(7-9)cGg>cTg	p.R3L	NXF5_ENST00000473265.2_Missense_Mutation_p.R3L|NXF5_ENST00000537026.1_Missense_Mutation_p.R3L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	3					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTGTGTGTTCCGCCTCATTTT	0.423																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(7-9)cGg>cTg		nuclear RNA export factor 5							369.0	299.0	322.0					X																	101097757		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101097757C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.8G>T	X.37:g.101097757C>A	ENSP00000355286:p.Arg3Leu					NXF5_ENST00000361708.2_Missense_Mutation_p.R3L|NXF5_ENST00000473265.2_Missense_Mutation_p.R3L	p.R3L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN			3	367	-			3					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.8G>T		.	.	.	.	.	.	.	.	.	.	C	4.470	0.087126	0.08583	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.42900	0.96;0.96;0.96	2.02	-0.809	0.10864	.	1.140210	0.06916	U	0.808583	T	0.21962	0.0529	N	0.20986	0.625	0.09310	N	1	B	0.30104	0.268	B	0.18871	0.023	T	0.14254	-1.0479	10	0.34782	T	0.22	.	1.7519	0.02973	0.2969:0.1939:0.0:0.5092	.	3	A2RRM0	.	L	3	ENSP00000442401:R3L;ENSP00000426978:R3L;ENSP00000355286:R3L	ENSP00000263032:R3L	R	-	2	0	NXF5	100984413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.505000	0.06367	-0.274000	0.09232	-0.989000	0.02550	CGG		0.423	NXF5-201	KNOWN	basic	protein_coding	protein_coding				11	1017	1	0	3.09899e-07	0.000274275	9.98704e-06	11	1017				
IKBKAP	8518	broad.mit.edu	37	9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T	rs374814563		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(946-948)cCg>cAg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							137.0	140.0	139.0					9																	111678495		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111678495G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.947C>A	9.37:g.111678495G>T	ENSP00000363779:p.Pro316Gln					IKBKAP_ENST00000537196.1_5'UTR	p.P316Q	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			10	1254	-			316					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.947C>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337794	0.24253	.	.	ENSG00000070061	ENST00000374647	T	0.20200	2.09	5.61	-1.68	0.08212	.	0.937565	0.09059	N	0.854523	T	0.28267	0.0698	L	0.58101	1.795	0.09310	N	0.999999	D	0.53462	0.96	P	0.58873	0.847	T	0.33471	-0.9867	10	0.13108	T	0.6	0.1594	4.912	0.13827	0.3142:0.3299:0.3559:0.0	.	316	O95163	ELP1_HUMAN	Q	316	ENSP00000363779:P316Q	ENSP00000363779:P316Q	P	-	2	0	IKBKAP	110718316	0.083000	0.21467	0.028000	0.17463	0.086000	0.17979	0.861000	0.27885	-0.103000	0.12175	-1.004000	0.02495	CCG		0.453	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			10	491	1	0	2.17888e-05	0.000442599	0.00047966	10	491				
KDELC1	79070	broad.mit.edu	37	13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A	rs565697033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(811-813)Gat>Tat		KDEL (Lys-Asp-Glu-Leu) containing 1							260.0	276.0	271.0					13																	103443642		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443642C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.811G>T	13.37:g.103443642C>A	ENSP00000365172:p.Asp271Tyr					KDELC1_ENST00000460338.1_5'UTR	p.D271Y	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1147	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		271					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.811G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078147	0.76528	.	.	ENSG00000134901	ENST00000376004	T	0.24723	1.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	271	Q6UW63	KDEL1_HUMAN	Y	271	ENSP00000365172:D271Y	ENSP00000365172:D271Y	D	-	1	0	KDELC1	102241643	1.000000	0.71417	0.884000	0.34674	0.466000	0.32739	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT		0.453	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			12	1214	1	0	0.00010058	0.00010058	0.00173709	12	1214				
FAM114A2	10827	broad.mit.edu	37	5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	391							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGGAATAGTTCAATTGAGCAG	0.443																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1171-1173)Gaa>Taa		family with sequence similarity 114, member A2							136.0	129.0	131.0					5																	153381896		2203	4300	6503	SO:0001587	stop_gained	10827						purine nucleotide binding	g.chr5:153381896C>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1171G>T	5.37:g.153381896C>A	ENSP00000341597:p.Glu391*					FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*|FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*	p.E391*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			11	1247	-			391					B2R8D8|Q9H7E0	Nonsense_Mutation	SNP	ENST00000351797.4	37	c.1171G>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870452	0.97901	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.3981	19.2161	0.93778	0.0:1.0:0.0:0.0	.	.	.	.	X	391;391;391;321	.	ENSP00000341597:E391X	E	-	1	0	FAM114A2	153362089	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.954000	0.70298	2.834000	0.97654	0.655000	0.94253	GAA		0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		9	491	1	0	6.40141e-05	6.40141e-05	0.00117365	9	491				
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423																																						ENST00000403687.3																			2	Substitution - Missense(2)	p.R97S(2)	urinary_tract(1)|lung(1)	large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(289-291)Cgt>Agt		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							258.0	252.0	254.0					2																	33745672		1894	4112	6006	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745672C>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.289C>A	2.37:g.33745672C>A	ENSP00000384192:p.Arg97Ser					RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S	p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1029	+	all_hematologic(175;0.115)		97			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.289C>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486860	0.63962	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.187977	0.48767	D	0.000170	T	0.44008	0.1273	L	0.33485	1.01	0.43698	D	0.996152	P;P	0.38048	0.616;0.616	P;P	0.44597	0.454;0.454	T	0.11991	-1.0565	10	0.33141	T	0.24	-7.3146	20.1218	0.97964	0.0:1.0:0.0:0.0	.	97;97	D6W583;Q8IV61	.;GRP3_HUMAN	S	97	ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S	ENSP00000385886:R97S	R	+	1	0	RASGRP3	33599176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.883000	0.48554	2.763000	0.94921	0.561000	0.74099	CGT		0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		10	844	1	0	0.000442599	0.000442599	0.00556767	10	844				
LRP1B	53353	broad.mit.edu	37	2	141946086	141946086	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141946086C>A	ENST00000389484.3	-	7	1888	c.917G>T	c.(916-918)cGg>cTg	p.R306L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	306					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R306Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAAAGATCCGGTCACCGAC	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.R306Q(1)	lung(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(916-918)cGg>cTg		low density lipoprotein receptor-related protein 1B							108.0	96.0	100.0					2																	141946086		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141946086C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.917G>T	2.37:g.141946086C>A	ENSP00000374135:p.Arg306Leu	TSP Lung(27;0.18)					p.R306L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	7	1888	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	306					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.917G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146250	0.77888	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94457	-3.43	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073163	0.53938	U	0.000060	D	0.94814	0.8325	M	0.82823	2.61	0.35523	D	0.801614	P	0.40970	0.734	B	0.43155	0.41	D	0.96461	0.9341	10	0.30078	T	0.28	.	15.1366	0.72572	0.0:0.8583:0.1417:0.0	.	306	Q9NZR2	LRP1B_HUMAN	L	306;244	ENSP00000374135:R306L	ENSP00000374135:R306L	R	-	2	0	LRP1B	141662556	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.923000	0.48868	2.406000	0.81754	0.655000	0.94253	CGG		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	422	1	0	6.40141e-05	6.40141e-05	0.00117365	10	422				
MLLT4	4301	broad.mit.edu	37	6	168265341	168265341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:168265341C>A	ENST00000447894.2	+	2	216	c.216C>A	c.(214-216)atC>atA	p.I72I	MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000366806.2_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	72	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTAATCGAAACGCTCG	0.438			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(214-216)atC>atA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							190.0	203.0	199.0					6																	168265341		2203	4296	6499	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168265341C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.216C>A	6.37:g.168265341C>A						MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000447894.2_Silent_p.I72I|MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I	p.I72I			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	2	358	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	72			Ras-associating 1.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.216C>A																																																																																					0.438	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		9	950	1	0	0.000274275	0.000274275	0.0039602	9	950				
ZNF181	339318	broad.mit.edu	37	19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000492450.1	+	4	352	c.263C>A	c.(262-264)tCa>tAa	p.S88*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	88					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAATTATCAACAAAGAAG	0.264																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(394-396)tCa>tAa		zinc finger protein 181							72.0	86.0	82.0					19																	35231549		2170	4271	6441	SO:0001587	stop_gained	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231549C>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.263C>A	19.37:g.35231549C>A	ENSP00000420727:p.Ser88*					ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S88*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S87*	p.S132*			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	563	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		88					B7ZKX3|Q49A75	Nonsense_Mutation	SNP	ENST00000492450.1	37	c.395C>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176182	0.57692	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	.	.	.	3.42	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	3.7581	0.08593	0.2346:0.6242:0.0:0.1412	.	.	.	.	X	132;87;88;87	.	ENSP00000376065:S132X	S	+	2	0	ZNF181	39923389	0.000000	0.05858	0.079000	0.20413	0.847000	0.48162	0.129000	0.15830	0.718000	0.32166	0.491000	0.48974	TCA		0.264	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		12	602	1	0	3.27435e-08	0.000219431	1.13729e-06	12	602				
CXorf22	170063	broad.mit.edu	37	X	35993949	35993949	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	878										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGTATAATCGTCAGAATTG	0.403																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2632-2634)Cgt>Agt		chromosome X open reading frame 22							175.0	156.0	163.0					X																	35993949		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993949C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2632C>A	X.37:g.35993949C>A	ENSP00000297866:p.Arg878Ser						p.R878S	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			15	2698	+			878					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2632C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766948	0.15983	.	.	ENSG00000165164	ENST00000297866	T	0.14022	2.54	5.31	3.49	0.39957	.	0.893270	0.09773	N	0.757696	T	0.10465	0.0256	L	0.38175	1.15	0.09310	N	0.999997	P	0.37141	0.584	B	0.37047	0.24	T	0.24977	-1.0145	10	0.09084	T	0.74	-2.0E-4	7.3829	0.26866	0.1665:0.7418:0.0:0.0917	.	878	Q6ZTR5	CX022_HUMAN	S	878	ENSP00000297866:R878S	ENSP00000297866:R878S	R	+	1	0	CXorf22	35903870	0.970000	0.33590	0.244000	0.24202	0.047000	0.14425	2.312000	0.43726	0.409000	0.25649	0.600000	0.82982	CGT		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		13	859	1	0	0.000308642	0.000308642	0.00435582	13	859				
PCDH11X	27328	broad.mit.edu	37	X	91090850	91090850	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.P116Q(3)		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						GCCATTTTGCCGGATGAAATA	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			3	Substitution - Missense(3)	p.P116Q(3)	lung(3)	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.(346-348)cCg>cAg		protocadherin 11 X-linked							78.0	72.0	74.0					X																	91090850		2202	4281	6483	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090850C>A	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.347C>A	X.37:g.91090850C>A	ENSP00000362186:p.Pro116Gln					PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q	p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1192	+			116			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.347C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244372	0.59103	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.56;0.62;0.63;0.55;0.64;0.6;0.61;0.63;0.64	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.59912	1.85	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.65319	-0.6197	10	0.31617	T	0.26	.	15.4133	0.74943	0.0:1.0:0.0:0.0	.	116;116;116;116;116;116;116;116	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Q	116	ENSP00000378746:P116Q;ENSP00000362186:P116Q;ENSP00000362189:P116Q;ENSP00000355040:P116Q;ENSP00000362180:P116Q;ENSP00000423762:P116Q;ENSP00000355105:P116Q;ENSP00000384758:P116Q;ENSP00000298274:P116Q	ENSP00000298274:P116Q	P	+	2	0	PCDH11X	90977506	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.983000	0.76180	2.173000	0.68751	0.506000	0.49869	CCG		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		9	469	1	0	0.000442599	0.000442599	0.00556767	9	469				
GSR	2936	broad.mit.edu	37	8	30539560	30539560	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:30539560C>A	ENST00000221130.5	-	11	1262	c.1172G>T	c.(1171-1173)cGa>cTa	p.R391L	GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	391					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GGCAAGTTTTCGGCCAGCAGC	0.383																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1171-1173)cGa>cTa		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						98.0	105.0	103.0					8																	30539560		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539560C>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1172G>T	8.37:g.30539560C>A	ENSP00000221130:p.Arg391Leu					GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L|GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L	p.R391L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1262	-			391					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1172G>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501103	0.85176	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;D;T	0.81659	1.76;1.76;-0.5;-1.52;-0.84	5.56	4.69	0.59074	.	0.104320	0.64402	D	0.000006	D	0.92113	0.7500	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93624	0.6950	10	0.87932	D	0	-22.4432	12.3051	0.54898	0.0:0.9179:0.0:0.0821	.	391	P00390	GSHR_HUMAN	L	391;348;362;338;309	ENSP00000221130:R391L;ENSP00000390065:R348L;ENSP00000445516:R362L;ENSP00000444559:R338L;ENSP00000438845:R309L	ENSP00000221130:R391L	R	-	2	0	GSR	30659102	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.924000	0.75823	1.359000	0.45940	-0.151000	0.13558	CGA		0.383	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			10	582	1	0	5.50884e-06	0.00010058	0.000142319	10	582				
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1518	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4552-4554)acC>acA		ankyrin 2, neuronal							75.0	76.0	76.0					4																	114274328		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274328C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4554C>A	4.37:g.114274328C>A						ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	p.T1518T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4607	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1485					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4554C>A	CCDS3702.1																																																																																				0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	522	1	0	0.000673444	0.000673444	0.00785517	9	522				
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A						ZNF557_ENST00000439035.2_Silent_p.R126R|ZNF557_ENST00000252840.6_Silent_p.R133R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		7	368	1	0	0.000673444	0.000673444	0.00785517	7	368				
DNAJC10	54431	broad.mit.edu	37	2	183622482	183622482	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:183622482C>A	ENST00000264065.7	+	19	2288	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTGTGCCCAGGAAAACGT	0.333																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1873-1875)Cag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 10							86.0	91.0	90.0					2																	183622482		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183622482C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1873C>A	2.37:g.183622482C>A	ENSP00000264065:p.Gln625Lys						p.Q625K	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2288	+			625			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1873C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294766	0.23564	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.35789	1.29	5.87	2.93	0.34026	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.376195	0.31963	N	0.006798	T	0.21550	0.0519	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.22080	0.001;0.064	B;B	0.27170	0.004;0.077	T	0.04693	-1.0933	10	0.25106	T	0.35	.	10.7484	0.46194	0.0:0.6612:0.2707:0.0681	.	579;625	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	625;579	ENSP00000264065:Q625K	ENSP00000264065:Q625K	Q	+	1	0	DNAJC10	183330727	0.962000	0.33011	0.998000	0.56505	0.992000	0.81027	1.867000	0.39499	0.913000	0.36797	0.655000	0.94253	CAG		0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		7	480	1	0	0.000274275	0.000274275	0.0039602	7	480				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		6	76	0	0	0	8.12818e-05	0	6	76				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	183	0	0	0	0.00024832	0	4	183				
OBFC1	79991	broad.mit.edu	37	10	105664909	105664909	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:105664909C>A	ENST00000224950.3	-	4	402	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	79					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGTGCTGTCATCCACTGCA	0.398																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(235-237)Gac>Tac		oligonucleotide/oligosaccharide-binding fold containing 1							133.0	141.0	138.0					10																	105664909		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105664909C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.235G>T	10.37:g.105664909C>A	ENSP00000224950:p.Asp79Tyr					OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	p.D79Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	4	402	-		Colorectal(252;0.178)	79					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.235G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282127	0.59867	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.78816	-1.21;-1.21	5.43	4.5	0.54988	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.042369	0.85682	D	0.000000	D	0.87884	0.6290	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89490	0.3756	10	0.87932	D	0	-20.8298	14.0399	0.64669	0.0:0.8475:0.1525:0.0	.	79	Q9H668	STN1_HUMAN	Y	79	ENSP00000224950:D79Y;ENSP00000358779:D79Y	ENSP00000224950:D79Y	D	-	1	0	OBFC1	105654899	1.000000	0.71417	0.384000	0.26145	0.844000	0.47949	5.692000	0.68256	1.365000	0.46057	0.561000	0.74099	GAC		0.398	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		10	568	1	0	0.000442599	0.000442599	0.00556767	10	568				
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.H514D(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1540-1542)Cat>Gat		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp					ZNF844_ENST00000441304.2_3'UTR	p.H514D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1715	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			7	265	0	0	0	0.000442599	0	7	265				
EP400	57634	broad.mit.edu	37	12	132537935	132537935	+	Silent	SNP	A	A	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:132537935A>C	ENST00000333577.4	+	44	7738	c.7629A>C	c.(7627-7629)ccA>ccC	p.P2543P	EP400_ENST00000330386.6_Silent_p.P2426P|EP400_ENST00000389561.2_Silent_p.P2507P|EP400_ENST00000332482.4_Silent_p.P2470P|EP400_ENST00000389562.2_Silent_p.P2506P			Q96L91	EP400_HUMAN	E1A binding protein p400	2543	Interaction with ZNF42. {ECO:0000250}.|Poly-Pro.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGCCCAgccacccccgcccc	0.731																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(7627-7629)ccA>ccC		E1A binding protein p400																																				SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132537935A>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7629A>C	12.37:g.132537935A>C						EP400_ENST00000330386.6_Silent_p.P2426P|EP400_ENST00000389562.2_Silent_p.P2506P|EP400_ENST00000332482.4_Silent_p.P2470P|EP400_ENST00000389561.2_Silent_p.P2507P	p.P2543P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	44	7738	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2543			Interaction with ZNF42 (By similarity).|Poly-Pro.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.7629A>C																																																																																					0.731	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	69	0	0	0	0.000308642	0	10	69				
ING5	84289	broad.mit.edu	37	2	242650884	242650884	+	Silent	SNP	C	C	A	rs142180451	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:242650884C>A	ENST00000313552.6	+	4	395	c.369C>A	c.(367-369)tcC>tcA	p.S123S	ING5_ENST00000406941.1_Silent_p.S123S|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(367-369)tcC>tcA		inhibitor of growth family, member 5							129.0	145.0	140.0					2																	242650884		2203	4296	6499	SO:0001819	synonymous_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650884C>A	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.369C>A	2.37:g.242650884C>A						ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.S123S	p.S123S	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	395	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	123					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	ENST00000313552.6	37	c.369C>A	CCDS33425.1																																																																																				0.393	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		12	801	1	0	1.3612e-06	0.000308642	4.17169e-05	12	801				
GPR107	57720	broad.mit.edu	37	9	132854660	132854660	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:132854660G>T	ENST00000372406.1	+	9	1370	c.863G>T	c.(862-864)cGg>cTg	p.R288L	GPR107_ENST00000347136.6_Splice_Site_p.R288L|GPR107_ENST00000372410.3_Splice_Site_p.R288L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	288						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGAAAACGACGGTAAACTATT	0.418																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.e9+1		G protein-coupled receptor 107							125.0	123.0	124.0					9																	132854660		2203	4300	6503	SO:0001630	splice_region_variant	0					integral to membrane		g.chr9:132854660G>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.863+1G>T	9.37:g.132854660G>T						GPR107_ENST00000347136.6_Splice_Site_p.R288_splice|GPR107_ENST00000372410.3_Splice_Site_p.R288_splice	p.R288_splice	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			9	1370	+		Ovarian(14;0.000531)	288					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	ENST00000372406.1	37	c.863_splice	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842525	0.71488	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.26810	1.71;1.74;1.74	5.56	5.56	0.83823	.	0.081892	0.48286	D	0.000183	T	0.26304	0.0642	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.19200	0.01;0.034;0.004	B;B;B	0.26416	0.011;0.069;0.01	T	0.07271	-1.0781	10	0.11794	T	0.64	-11.1396	18.183	0.89785	0.0:0.0:1.0:0.0	.	288;288;288	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	288	ENSP00000361483:R288L;ENSP00000336988:R288L;ENSP00000361487:R288L	ENSP00000336988:R288L	R	+	2	0	GPR107	131894481	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	6.612000	0.74187	2.638000	0.89438	0.603000	0.83216	CGG		0.418	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		Missense_Mutation	8	606	1	0	5.50884e-06	0.00010058	0.000142319	8	606				
C6orf136	221545	broad.mit.edu	37	6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T	rs554711801		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000376473.5	+	4	734	c.575G>T	c.(574-576)tGg>tTg	p.W192L	C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1117-1119)tGg>tTg		chromosome 6 open reading frame 136							254.0	255.0	255.0					6																	30619054		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619054G>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.575G>T	6.37:g.30619054G>T	ENSP00000365656:p.Trp192Leu					C6orf136_ENST00000376473.5_Missense_Mutation_p.W192L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L	p.W373L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			4	1311	+			192					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.1118G>T	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207852	0.22205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	4.72	0.6	0.17524	.	0.571491	0.18568	N	0.137403	T	0.07143	0.0181	N	0.08118	0	0.25418	N	0.9883	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.41466	-0.9507	9	0.11485	T	0.65	-1.7055	13.3791	0.60757	0.0:0.0:0.2885:0.7115	.	58;373;192	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	373;192;58;310;49;14;5	.	ENSP00000293604:W373L	W	+	2	0	C6orf136	30727033	0.987000	0.35691	0.981000	0.43875	0.980000	0.70556	0.475000	0.22164	-0.006000	0.14370	-0.152000	0.13540	TGG		0.493	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		17	1621	1	0	2.31682e-05	0.000308642	0.000501203	17	1621				
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1321-1323)Cga>Aga		low density lipoprotein receptor-related protein 1B							102.0	105.0	104.0					2																	141816539		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816539G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1321C>A	2.37:g.141816539G>T		TSP Lung(27;0.18)					p.R441R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2292	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	441					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1321C>A	CCDS2182.1																																																																																				0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	494	1	0	1.58986e-06	0.000673444	4.62318e-05	11	494				
CACNA1S	779	broad.mit.edu	37	1	201019522	201019522	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(4234-4236)gaG>gaA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						85.0	82.0	83.0					1																	201019522		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201019522C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4236G>A	1.37:g.201019522C>T						CACNA1S_ENST00000367338.3_Silent_p.E1393E	p.E1412E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			34	4462	-			1412					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.4236G>A	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		25	223	0	0	0	0.00047179	0	25	223				
SNAPC3	6619	broad.mit.edu	37	9	15459726	15459726	+	Silent	SNP	G	G	T	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(1096-1098)acG>acT		small nuclear RNA activating complex, polypeptide 3, 50kDa							137.0	129.0	131.0					9																	15459726		2203	4300	6503	SO:0001819	synonymous_variant	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15459726G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.1098G>T	9.37:g.15459726G>T							p.T366T	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	9	1274	+			366					D3DRI8|Q2VPI6|Q5T285	Silent	SNP	ENST00000380821.3	37	c.1098G>T	CCDS6478.1																																																																																				0.373	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		8	504	1	0	6.40141e-05	6.40141e-05	0.00117365	8	504				
KLHL5	51088	broad.mit.edu	37	4	39077672	39077672	+	Silent	SNP	C	C	A	rs183165327		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39077672C>A	ENST00000504108.1	+	2	892	c.609C>A	c.(607-609)gcC>gcA	p.A203A	KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000261425.3_Silent_p.A157A|KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000359687.2_Silent_p.A203A	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	203						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTAATCATGCCGAGCAAACAT	0.368																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(469-471)gcC>gcA		kelch-like family member 5							115.0	115.0	115.0					4																	39077672		2203	4300	6503	SO:0001819	synonymous_variant	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39077672C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.609C>A	4.37:g.39077672C>A						KLHL5_ENST00000504108.1_Silent_p.A203A|KLHL5_ENST00000359687.2_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000261426.5_Intron	p.A157A	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			3	623	+			203					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	c.471C>A	CCDS33974.1																																																																																				0.368	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			8	526	1	0	0.000274275	0.000274275	0.0039602	8	526				
SLC26A7	115111	broad.mit.edu	37	8	92364116	92364116	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.e10+1		solute carrier family 26 (anion exchanger), member 7							190.0	172.0	178.0					8																	92364116		2203	4300	6503	SO:0001630	splice_region_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92364116G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1218+1G>C	8.37:g.92364116G>C						SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site		NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		10	1457	+									Splice_Site	SNP	ENST00000276609.3	37		CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92433292	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	6.331000	0.72929	2.610000	0.88304	0.591000	0.81541	.		0.343	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		Intron	77	636	0	0	0	0.000781405	0	77	636				
CCNB3	85417	broad.mit.edu	37	X	50053963	50053963	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2794-2796)Gct>Act		cyclin B3							87.0	80.0	83.0					X																	50053963		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053963G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2794G>A	X.37:g.50053963G>A	ENSP00000365210:p.Ala932Thr					CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T	p.A932T			Q8WWL7	CCNB3_HUMAN			6	3092	+	Ovarian(276;0.236)		932					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2794G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599279	0.13939	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.21361	2.01;2.01	3.34	-0.792	0.10925	.	264.062000	0.00166	N	0.000000	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.10268	-1.0637	9	.	.	.	.	2.7285	0.05220	0.2455:0.0:0.3704:0.3841	.	932	Q8WWL7	CCNB3_HUMAN	T	932	ENSP00000365210:A932T;ENSP00000276014:A932T	.	A	+	1	0	CCNB3	50070703	0.008000	0.16893	0.000000	0.03702	0.005000	0.04900	0.478000	0.22212	-0.326000	0.08564	-0.330000	0.08379	GCT		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	413	0	0	0	3.59834e-05	0	6	413				
EPB41L3	23136	broad.mit.edu	37	18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1069-1071)Gaa>Taa		erythrocyte membrane protein band 4.1-like 3							80.0	85.0	84.0					18																	5424355		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5424355C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1069G>T	18.37:g.5424355C>A	ENSP00000343158:p.Glu357*					EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*	p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			10	1409	-			357			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.1069G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258930	0.99117	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	6.06	0.98353	.	0.129804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6186	0.99473	0.0:1.0:0.0:0.0	.	.	.	.	X	357;248;357;248;357;357	.	ENSP00000343158:E357X	E	-	1	0	EPB41L3	5414355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.876000	0.98609	0.643000	0.83706	GAA		0.323	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	480	1	0	5.50884e-06	0.00010058	0.000142319	12	480				
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000269491.1	+	7	902	c.902G>T	c.(901-903)cGg>cTg	p.R301L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(961-963)cGg>cTg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							180.0	177.0	178.0					18																	61233928		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61233928G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.902G>T	18.37:g.61233928G>T	ENSP00000269491:p.Arg301Leu					SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L	p.R321L			Q96P63	SPB12_HUMAN			7	962	+			301					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.962G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304108	0.40795	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84223	-1.82;-1.82	5.81	1.97	0.26223	Serpin domain (3);	0.299003	0.29246	N	0.012717	D	0.87111	0.6096	M	0.91872	3.25	0.09310	N	0.999998	P;B	0.37781	0.608;0.182	B;B	0.38655	0.278;0.098	T	0.80381	-0.1406	10	0.87932	D	0	.	10.0287	0.42087	0.5897:0.0:0.4103:0.0	.	321;301	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	301;321	ENSP00000269491:R301L;ENSP00000372218:R321L	ENSP00000269491:R301L	R	+	2	0	SERPINB12	59384908	0.000000	0.05858	0.999000	0.59377	0.943000	0.58893	0.120000	0.15647	0.135000	0.18707	-0.290000	0.09829	CGG		0.448	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		14	786	1	0	0.000566183	0.000566183	0.00706542	14	786				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		8	455	0	0	0	0.000673444	0	8	455				
KRT33B	3884	broad.mit.edu	37	17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(970-972)Cag>Aag		keratin 33B							48.0	55.0	53.0					17																	39521158		2189	4296	6485	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521158G>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.970C>A	17.37:g.39521158G>T	ENSP00000251646:p.Gln324Lys						p.Q324K	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			6	1019	-		Breast(137;0.000496)	324			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.970C>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304063	0.60305	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.29	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000010	D	0.95544	0.8552	H	0.97023	3.925	0.32020	N	0.600921	D	0.55172	0.97	P	0.59012	0.85	D	0.95999	0.8992	10	0.87932	D	0	.	14.3715	0.66843	0.0:0.1494:0.8506:0.0	.	324	Q14525	KT33B_HUMAN	K	324	ENSP00000251646:Q324K	ENSP00000251646:Q324K	Q	-	1	0	KRT33B	36774684	0.605000	0.26941	0.960000	0.40013	0.526000	0.34562	0.833000	0.27504	2.666000	0.90696	0.650000	0.86243	CAG		0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		16	291	1	0	5.3912e-06	0.00074312	0.000142319	16	291				
ASPM	259266	broad.mit.edu	37	1	197062302	197062302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197062302G>T	ENST00000367409.4	-	21	9430	c.9174C>A	c.(9172-9174)atC>atA	p.I3058I	ASPM_ENST00000367408.1_Silent_p.I723I|ASPM_ENST00000294732.7_Silent_p.I1473I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3058	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTTTGTATGATCAAAGCAG	0.383																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9172-9174)atC>atA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							72.0	77.0	75.0					1																	197062302		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062302G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9174C>A	1.37:g.197062302G>T						ASPM_ENST00000367408.1_Silent_p.I723I|ASPM_ENST00000294732.7_Silent_p.I1473I	p.I3058I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			21	9430	-			3058			IQ 36.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9174C>A	CCDS1389.1																																																																																				0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	578	1	0	0.000442599	0.000442599	0.00556767	10	578				
NAALAD2	10003	broad.mit.edu	37	11	89914807	89914807	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1876-1878)gtG>gtT		N-acetylated alpha-linked acidic dipeptidase 2							33.0	37.0	36.0					11																	89914807		2196	4290	6486	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89914807G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1878G>T	11.37:g.89914807G>T						NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.V593V	p.V626V	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			17	2108	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	626					B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1878G>T	CCDS8288.1																																																																																				0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		10	589	1	0	0.00010058	0.00010058	0.00173709	10	589				
SCLT1	132320	broad.mit.edu	37	4	129873955	129873955	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:129873955C>A	ENST00000281142.5	-	14	1690	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	396					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGTTAATCGAGAAATTTG	0.264																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1186-1188)cGa>cTa		sodium channel and clathrin linker 1							127.0	131.0	129.0					4																	129873955		2200	4295	6495	SO:0001583	missense	132320					centrosome		g.chr4:129873955C>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1187G>T	4.37:g.129873955C>A	ENSP00000281142:p.Arg396Leu					SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	p.R396L	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			14	1690	-			396					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1187G>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507759	0.27036	.	.	ENSG00000151466	ENST00000281142	T	0.09723	2.95	4.49	-5.45	0.02616	.	0.539905	0.19485	N	0.113122	T	0.09069	0.0224	L	0.46157	1.445	0.20196	N	0.99992	P	0.43701	0.815	B	0.38985	0.287	T	0.01956	-1.1240	9	.	.	.	0.1314	15.4628	0.75373	0.0:0.2633:0.0:0.7367	.	396	Q96NL6	SCLT1_HUMAN	L	396	ENSP00000281142:R396L	.	R	-	2	0	SCLT1	130093405	0.001000	0.12720	0.000000	0.03702	0.636000	0.38137	-0.598000	0.05706	-1.407000	0.02043	-0.136000	0.14681	CGA		0.264	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		10	843	1	0	0.000219431	0.000219431	0.00342116	10	843				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				6	24	0	0	0	8.12818e-05	0	6	24				
TMEM198	130612	broad.mit.edu	37	2	220412305	220412305	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R			Q66K66	TM198_HUMAN	transmembrane protein 198	82	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTCTGCTACCGAGAGCGGGT	0.632																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(244-246)Cga>Aga		transmembrane protein 198							245.0	240.0	242.0					2																	220412305		2203	4300	6503	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412305C>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.244C>A	2.37:g.220412305C>A						TMEM198_ENST00000373883.3_Silent_p.R82R|RP11-256I23.1_ENST00000596829.1_RNA	p.R82R			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	829	+		Renal(207;0.0376)	82			Leu-rich.			Silent	SNP	ENST00000344458.2	37	c.244C>A	CCDS33385.1																																																																																				0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		10	991	1	0	6.40141e-05	6.40141e-05	0.00117365	10	991				
FLG	2312	broad.mit.edu	37	1	152278046	152278046	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152278046C>A	ENST00000368799.1	-	3	9351	c.9316G>T	c.(9316-9318)Ggt>Tgt	p.G3106C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3106	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCGTATTGGGAT	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9316-9318)Ggt>Tgt		filaggrin							195.0	253.0	235.0					1																	152278046		1968	4219	6187	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278046C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9316G>T	1.37:g.152278046C>A	ENSP00000357789:p.Gly3106Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3106C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9351	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3106			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9316G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393587	0.25205	.	.	ENSG00000143631	ENST00000368799	T	0.07800	3.16	4.17	-3.75	0.04372	.	.	.	.	.	T	0.05181	0.0138	M	0.77616	2.38	0.09310	N	1	D	0.60575	0.988	P	0.45639	0.488	T	0.18777	-1.0326	9	0.56958	D	0.05	.	8.0889	0.30788	0.0:0.2914:0.5653:0.1432	.	3106	P20930	FILA_HUMAN	C	3106	ENSP00000357789:G3106C	ENSP00000357789:G3106C	G	-	1	0	FLG	150544670	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.414000	0.07114	-0.500000	0.06614	0.449000	0.29647	GGT		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	1230	1	0	0.00010058	0.00010058	0.00173709	11	1230				
SRBD1	55133	broad.mit.edu	37	2	45826684	45826684	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:45826684G>T	ENST00000263736.4	-	4	614	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	184					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAGTCTTGATTTTCTTTA	0.448																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(550-552)atC>atA		S1 RNA binding domain 1							254.0	243.0	247.0					2																	45826684		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45826684G>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.552C>A	2.37:g.45826684G>T							p.I184I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		4	614	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	184					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.552C>A	CCDS1823.1																																																																																				0.448	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		10	801	1	0	0.000673444	0.000673444	0.00785517	10	801				
AMPH	273	broad.mit.edu	37	7	38471789	38471789	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38471789C>T	ENST00000356264.2	-	13	1373	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Splice_Site_p.T386T|AMPH_ENST00000325590.5_Splice_Site_p.T386T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	386					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.T386T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGCTTACCGTCCATAGGT	0.323																																						ENST00000356264.2																			1	Substitution - coding silent(1)	p.T386T(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.e13+1		amphiphysin							106.0	108.0	108.0					7																	38471789		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471789C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1158+1G>A	7.37:g.38471789C>T						AMPH_ENST00000428293.2_Splice_Site_p.T386_splice|AMPH_ENST00000325590.5_Splice_Site_p.T386_splice	p.T386_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			13	1373	-			386					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.1158_splice	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409493	0.42715	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.55	4.67	0.58626	.	.	.	.	.	T	0.70168	0.3193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69250	-0.5194	4	.	.	.	-16.0735	14.2603	0.66080	0.0:0.9282:0.0:0.0718	.	.	.	.	N	137	.	.	D	-	1	0	AMPH	38438314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.749000	0.47492	1.336000	0.45506	0.655000	0.94253	GAC		0.323	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Silent	52	408	0	0	0	0.000781405	0	52	408				
SPANXN2	494119	broad.mit.edu	37	X	142803706	142803706	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:142803706G>T	ENST00000370498.1	-	1	810	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTATTGGATTCACAGG	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(55-57)tcC>tcA		SPANX family, member N2							239.0	224.0	229.0					X																	142803706		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142803706G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.57C>A	X.37:g.142803706G>T							p.S19S	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	810	-	Acute lymphoblastic leukemia(192;6.56e-05)		19					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.57C>A	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		11	997	1	0	2.52707e-12	0.000442599	9.93662e-11	11	997				
NEUROD6	63974	broad.mit.edu	37	7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	94	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGTCTCCTGAACTTGACCC	0.498																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(280-282)ttC>ttA		neuronal differentiation 6							258.0	253.0	255.0					7																	31378601		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378601G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.282C>A	7.37:g.31378601G>T	ENSP00000297142:p.Phe94Leu						p.F94L	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	604	-			94					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.282C>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553653	0.03996	.	.	ENSG00000164600	ENST00000297142	D	0.94576	-3.46	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (1);	0.108239	0.64402	D	0.000011	D	0.86070	0.5845	N	0.11064	0.09	0.41174	D	0.98618	B	0.02656	0.0	B	0.01281	0.0	T	0.81263	-0.1012	10	0.06891	T	0.86	-22.1205	14.1906	0.65635	0.0:0.0:0.8505:0.1495	.	94	Q96NK8	NDF6_HUMAN	L	94	ENSP00000297142:F94L	ENSP00000297142:F94L	F	-	3	2	NEUROD6	31345126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.206000	0.51098	2.569000	0.86673	0.650000	0.86243	TTC		0.498	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		15	805	1	0	2.4624e-09	0.000132079	9.16363e-08	15	805				
ZNF14	7561	broad.mit.edu	37	19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					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)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1084-1086)cCa>cAa		zinc finger protein 14							81.0	81.0	81.0					19																	19823005		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823005G>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1085C>A	19.37:g.19823005G>T	ENSP00000340514:p.Pro362Gln						p.P362Q	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1223	-		Renal(1328;0.0474)	362					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1085C>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448100	0.63178	.	.	ENSG00000105708	ENST00000344099	T	0.17213	2.29	1.86	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	M	0.86028	2.79	0.24605	N	0.993751	D	0.89917	1.0	D	0.76575	0.988	T	0.14062	-1.0486	9	0.87932	D	0	.	7.6356	0.28264	0.0:0.2677:0.7323:0.0	.	362	P17017	ZNF14_HUMAN	Q	362	ENSP00000340514:P362Q	ENSP00000340514:P362Q	P	-	2	0	ZNF14	19684005	0.060000	0.20803	0.200000	0.23457	0.719000	0.41307	0.746000	0.26275	0.084000	0.17077	0.467000	0.42956	CCA		0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		8	416	1	0	0.000274275	0.000274275	0.0039602	8	416				
ZNF610	162963	broad.mit.edu	37	19	52857575	52857575	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52857575C>A	ENST00000403906.3	+	5	718	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000601151.1_Intron	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCTGCAAAGTCAAGTTAAAAT	0.378																																						ENST00000403906.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(262-264)Caa>Aaa		zinc finger protein 610							81.0	84.0	83.0					19																	52857575		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52857575C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.262C>A	19.37:g.52857575C>A	ENSP00000383922:p.Gln88Lys					ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000601151.1_Intron	p.Q88K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	718	+			88			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.262C>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056483	0.01965	.	.	ENSG00000167554	ENST00000403906;ENST00000327920	T;T	0.04809	3.55;3.55	1.21	-2.43	0.06522	Krueppel-associated box (1);	.	.	.	.	T	0.01976	0.0062	N	0.04820	-0.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	9	0.20519	T	0.43	.	3.921	0.09244	0.2004:0.5011:0.2985:0.0	.	88	Q8N9Z0	ZN610_HUMAN	K	88	ENSP00000383922:Q88K;ENSP00000327597:Q88K	ENSP00000327597:Q88K	Q	+	1	0	ZNF610	57549387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.922000	0.04004	-0.998000	0.03446	-1.241000	0.01538	CAA		0.378	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		8	444	1	0	1.12685e-05	0.000274275	0.000275198	8	444				
PRDM2	7799	broad.mit.edu	37	1	14108532	14108532	+	Silent	SNP	G	G	T	rs559689099		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:14108532G>T	ENST00000235372.7	+	8	5098	c.4242G>T	c.(4240-4242)tcG>tcT	p.S1414S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.S1213S|PRDM2_ENST00000311066.5_Silent_p.S1414S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1414	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGTCGTCGAATAAGCTCA	0.393																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4240-4242)tcG>tcT		PR domain containing 2, with ZNF domain							69.0	75.0	73.0					1																	14108532		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108532G>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4242G>T	1.37:g.14108532G>T						PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.S1213S	p.S1414S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5098	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1414			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.4242G>T	CCDS150.1																																																																																				0.393	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		9	412	1	0	3.86212e-05	0.000673444	0.000778902	9	412				
ATPAF1	64756	broad.mit.edu	37	1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000371937.4	-	9	955	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458																																					Melanoma(138;107 1777 21672 30337 52312)	ENST00000576409.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(919-921)cGg>cTg		ATP synthase mitochondrial F1 complex assembly factor 1							219.0	218.0	219.0					1																	47101584		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47101584C>A	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.851G>T	1.37:g.47101584C>A	ENSP00000361005:p.Arg284Leu					ATPAF1_ENST00000371937.4_Missense_Mutation_p.R284L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L	p.R307L			Q5TC12	ATPF1_HUMAN			9	982	-	Acute lymphoblastic leukemia(166;0.155)		284					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.920G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059769|3.059769	0.55325|0.55325	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	.|T	.|0.46063	.|0.88	6.02|6.02	4.17|4.17	0.49024|0.49024	.|.	.|0.145674	.|0.64402	.|D	.|0.000009	.|T	.|0.54415	.|0.1857	M|M	0.68952|0.68952	2.095|2.095	0.48341|0.48341	D|D	0.999639|0.999639	.|P;D;P	.|0.71674	.|0.867;0.998;0.943	.|P;D;P	.|0.71870	.|0.483;0.975;0.718	.|T	.|0.58451	.|-0.7634	.|10	.|0.02654	.|T	.|1	-10.3176|-10.3176	12.6294|12.6294	0.56649|0.56649	0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327	.|.	.|196;216;284	.|B7Z7I6;A8MRA7;Q5TC12	.|.;.;ATPF1_HUMAN	X|L	139|284;88;130;133;216;196	.|ENSP00000361005:R284L	.|ENSP00000330685:R216L	G|R	-|-	1|2	0|0	ATPAF1|ATPAF1	46874171|46874171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.569000|5.569000	0.67391|0.67391	0.885000|0.885000	0.36088|0.36088	-0.145000|-0.145000	0.13849|0.13849	GGA|CGG		0.458	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		10	926	1	0	0.000673444	0.000673444	0.00785517	10	926				
ZNF99	7652	broad.mit.edu	37	19	22941336	22941336	+	Missense_Mutation	SNP	T	T	C	rs386808002|rs188302239	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:22941336T>C	ENST00000596209.1	-	4	1465	c.1375A>G	c.(1375-1377)Agc>Ggc	p.S459G	ZNF99_ENST00000397104.3_Missense_Mutation_p.S368G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCTGCATTCTTCA	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1102-1104)Agc>Ggc		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941336T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1375A>G	19.37:g.22941336T>C	ENSP00000472969:p.Ser459Gly					ZNF99_ENST00000596209.1_Missense_Mutation_p.S459G	p.S368G							5	1101	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1102A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.143342	0.00332	.	.	ENSG00000213973	ENST00000397104	T	0.07688	3.17	1.28	0.0685	0.14370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.00514	-1.41	0.20074	N	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	9	0.02654	T	1	.	3.8246	0.08849	0.0:0.5767:0.2474:0.1759	.	368	A8MXY4	ZNF99_HUMAN	G	368	ENSP00000380293:S368G	ENSP00000380293:S368G	S	-	1	0	ZNF99	22733176	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.289000	0.18957	-0.133000	0.11537	-0.751000	0.03497	AGC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	293	0	0	0	3.59834e-05	0	5	293				
VCPIP1	80124	broad.mit.edu	37	8	67577279	67577279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:67577279C>A	ENST00000310421.4	-	1	2173	c.1915G>T	c.(1915-1917)Ggg>Tgg	p.G639W	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	639					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTTCACTCCCAAATTCACCT	0.363																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1915-1917)Ggg>Tgg		valosin containing protein (p97)/p47 complex interacting protein 1							139.0	146.0	144.0					8																	67577279		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577279C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1915G>T	8.37:g.67577279C>A	ENSP00000309031:p.Gly639Trp						p.G639W	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2173	-		Lung NSC(129;0.142)|all_lung(136;0.227)	639					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1915G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188916	0.57909	.	.	ENSG00000175073	ENST00000310421	T	0.49720	0.77	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70676	-0.4806	10	0.87932	D	0	-9.9769	19.2059	0.93729	0.0:1.0:0.0:0.0	.	639	Q96JH7	VCIP1_HUMAN	W	639	ENSP00000309031:G639W	ENSP00000309031:G639W	G	-	1	0	VCPIP1	67739833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.587000	0.87381	0.655000	0.94253	GGG		0.363	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			10	724	1	0	2.17888e-05	0.000442599	0.00047966	10	724				
SNHG14	104472715	broad.mit.edu	37	15	25327982	25327982	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:25327982C>A	ENST00000546682.1	+	0	188				SNHG14_ENST00000553108.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AACTCTATACCGTCATCCTCG	0.468																																						ENST00000546682.1																			0																				284.0	237.0	252.0					15																	25327982		876	1989	2865			0							g.chr15:25327982C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327982C>A						SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA		NR_003361.1						0	188	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.468	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			15	1283	1	0	0.000219431	0.000219431	0.00342116	15	1283				
EBAG9	9166	broad.mit.edu	37	8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K|EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(616-618)aaC>aaA		estrogen receptor binding site associated, antigen, 9							135.0	135.0	135.0					8																	110576764		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110576764C>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.618C>A	8.37:g.110576764C>A	ENSP00000337675:p.Asn206Lys					EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K	p.N206K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		7	918	+			206					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.618C>A	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926951	0.52759	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000531677	.	.	.	5.52	1.68	0.24146	.	0.215116	0.40728	N	0.001032	T	0.32071	0.0817	N	0.19112	0.55	0.42409	D	0.992594	B	0.33238	0.403	B	0.22601	0.04	T	0.05971	-1.0853	9	0.31617	T	0.26	-24.8557	12.9693	0.58503	0.0:0.7392:0.0:0.2608	.	206	O00559	RCAS1_HUMAN	K	206;206;251	.	ENSP00000337675:N206K	N	+	3	2	EBAG9	110645940	0.037000	0.19845	0.991000	0.47740	0.958000	0.62258	0.178000	0.16820	0.110000	0.17919	-0.797000	0.03246	AAC		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		42	323	1	0	1.06644e-07	0.000319135	3.66341e-06	42	323				
ZNF845	91664	broad.mit.edu	37	19	53855197	53855197	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53855197G>A	ENST00000595091.1	+	5	1488	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423I			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1267-1269)atG>atA		zinc finger protein 845							45.0	41.0	42.0					19																	53855197		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855197G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1269G>A	19.37:g.53855197G>A	ENSP00000470005:p.Met423Ile					ZNF845_ENST00000595091.1_Missense_Mutation_p.M423I	p.M423I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1386	+			423						Missense_Mutation	SNP	ENST00000595091.1	37	c.1269G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.889779	0.02511	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.34275	1.37	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.05487	-0.04	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.08249	-1.0731	9	0.34782	T	0.22	.	2.3006	0.04161	0.1137:0.3445:0.3108:0.231	.	423	Q96IR2	ZN845_HUMAN	I	423	ENSP00000388311:M423I	ENSP00000412086:M423I	M	+	3	0	ZNF845	58547009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.502000	0.00035	-2.361000	0.00609	-0.718000	0.03613	ATG		0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	561	0	0	0	0.000673444	0	8	561				
SCN9A	6335	broad.mit.edu	37	2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000409435.1	-	23	4383	c.4384C>A	c.(4384-4386)Caa>Aaa	p.Q1462K	SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1462					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCTGTTGGTTGAAATTA	0.264																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4387-4389)Caa>Aaa		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						42.0	42.0	42.0					2																	167083091		2080	4252	6332	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167083091G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4384C>A	2.37:g.167083091G>T	ENSP00000386330:p.Gln1462Lys					SCN9A_ENST00000409435.1_Missense_Mutation_p.Q1462K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|AC010127.3_ENST00000447809.2_RNA	p.Q1463K			Q15858	SCN9A_HUMAN			24	4727	-			1462					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4387C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628730	0.87560	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.97895	0.9308	M	0.80847	2.515	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	D	0.98554	1.0638	10	0.87932	D	0	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	1451	E7EUN6	.	K	1451;1463;1463;1462	ENSP00000386306:Q1451K;ENSP00000364536:Q1463K;ENSP00000304748:Q1463K;ENSP00000386330:Q1462K	ENSP00000304748:Q1463K	Q	-	1	0	SCN9A	166791337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	2.559000	0.86315	0.591000	0.81541	CAA		0.264	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		6	144	1	0	0.000157383	0.000157383	0.00254253	6	144				
LPAR1	1902	broad.mit.edu	37	9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A	rs569190522		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(742-744)cGg>cTg		lysophosphatidic acid receptor 1							84.0	85.0	84.0					9																	113703751		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703751C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.743G>T	9.37:g.113703751C>A	ENSP00000363553:p.Arg248Leu					LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L	p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	1126	-			248					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.743G>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229298	0.79688	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.924;0.973	T	0.73004	-0.4119	10	0.87932	D	0	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	249;249;248	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	248;249;248;248;230;249	ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L	ENSP00000351755:R248L	R	-	2	0	LPAR1	112743572	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	6.089000	0.71384	2.437000	0.82529	0.563000	0.77884	CGG		0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		10	367	1	0	0.000442599	0.000442599	0.00556767	10	367				
LYST	1130	broad.mit.edu	37	1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000389793.2_Missense_Mutation_p.R3398L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10192-10194)cGa>cTa		lysosomal trafficking regulator							139.0	141.0	140.0					1																	235866228		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866228C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10193G>T	1.37:g.235866228C>A	ENSP00000374444:p.Arg3398Leu					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L	p.R3398L			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3398			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10193G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384645	0.61845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80123	-1.34;-1.34	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.85655	0.1285	10	0.72032	D	0.01	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3398	Q99698	LYST_HUMAN	L	3398	ENSP00000374444:R3398L;ENSP00000374443:R3398L	ENSP00000374443:R3398L	R	-	2	0	LYST	233932851	1.000000	0.71417	0.557000	0.28306	0.141000	0.21300	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	CGA		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			11	688	1	0	0.000673444	0.000673444	0.00785517	11	688				
MTUS1	57509	broad.mit.edu	37	8	17570754	17570754	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17570754C>A	ENST00000262102.6	-	6	2816	c.2592G>T	c.(2590-2592)tcG>tcT	p.S864S	MTUS1_ENST00000544260.1_Silent_p.S9S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000381869.3_Silent_p.S810S	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	864					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTTTTTCTCGAAGGACCTA	0.264																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2428-2430)tcG>tcT		microtubule associated tumor suppressor 1							93.0	94.0	94.0					8																	17570754		1813	4068	5881	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17570754C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2592G>T	8.37:g.17570754C>A						MTUS1_ENST00000262102.6_Silent_p.S864S|MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000544260.1_Silent_p.S9S	p.S810S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	5	2903	-			864					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2430G>T	CCDS43717.1																																																																																				0.264	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		12	663	1	0	3.27435e-08	0.000219431	1.13729e-06	12	663				
PRCP	5547	broad.mit.edu	37	11	82549486	82549486	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:82549486C>A	ENST00000313010.3	-	8	1411	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	PRCP_ENST00000535099.1_Missense_Mutation_p.W301L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.W427L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	406					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTAGTGATCCAGGAGGGCCT	0.413																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1216-1218)tGg>tTg		prolylcarboxypeptidase (angiotensinase C)							139.0	125.0	130.0					11																	82549486		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549486C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1217G>T	11.37:g.82549486C>A	ENSP00000317362:p.Trp406Leu					PRCP_ENST00000535099.1_Missense_Mutation_p.W301L|PRCP_ENST00000393399.2_Missense_Mutation_p.W427L|PRCP_ENST00000525772.1_5'UTR	p.W406L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			8	1411	-			406					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1217G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933134	0.73442	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	D;D;D	0.91180	-2.8;-2.8;-2.8	6.06	6.06	0.98353	.	0.056069	0.85682	D	0.000000	D	0.93288	0.7861	M	0.81614	2.55	0.80722	D	1	P;B	0.49090	0.919;0.356	P;P	0.47827	0.558;0.477	D	0.92488	0.5998	9	.	.	.	-9.9724	20.6208	0.99490	0.0:1.0:0.0:0.0	.	406;427	P42785;A8MU24	PCP_HUMAN;.	L	406;427;301	ENSP00000317362:W406L;ENSP00000377055:W427L;ENSP00000442077:W301L	.	W	-	2	0	PRCP	82227134	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	TGG		0.413	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		9	445	1	0	3.09899e-07	0.000274275	9.98704e-06	9	445				
SUGT1	10910	broad.mit.edu	37	13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000343788.6	+	3	230	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K|SUGT1_ENST00000535397.1_5'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	50					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTATTATTGTCAAAGAGCTTA	0.353																																						ENST00000310528.7																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(148-150)Caa>Aaa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							106.0	93.0	97.0					13																	53231718		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53231718C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.148C>A	13.37:g.53231718C>A	ENSP00000367208:p.Gln50Lys					SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q50K	p.Q50K	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	3	203	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	50					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.148C>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383544	0.42207	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.59364	0.27;0.27	4.21	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059373	0.64402	D	0.000002	T	0.43433	0.1247	N	0.21508	0.67	0.80722	D	1	P;P	0.36599	0.56;0.459	B;B	0.40659	0.336;0.175	T	0.37079	-0.9721	10	0.02654	T	1	-2.4714	15.6949	0.77488	0.0:1.0:0.0:0.0	.	50;50	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	50	ENSP00000367208:Q50K;ENSP00000308067:Q50K	ENSP00000308067:Q50K	Q	+	1	0	SUGT1	52129719	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.484000	0.66844	2.047000	0.60756	0.467000	0.42956	CAA		0.353	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			8	361	1	0	0.000442599	0.000442599	0.00556767	8	361				
PCBP3	54039	broad.mit.edu	37	21	47359992	47359992	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:47359992C>A	ENST00000400314.1	+	15	1296	c.958C>A	c.(958-960)Cga>Aga	p.R320R	PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000400308.1_Silent_p.R294R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	320	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGAAATTCGACAGATGTC	0.537																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(958-960)Cga>Aga		poly(rC) binding protein 3							73.0	78.0	77.0					21																	47359992		2062	4217	6279	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47359992C>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.958C>A	21.37:g.47359992C>A						PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400308.1_Silent_p.R294R	p.R320R			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1296	+	all_hematologic(128;0.24)		320			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.958C>A	CCDS42974.2																																																																																				0.537	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			16	686	1	0	3.32936e-07	0.00074312	1.06744e-05	16	686				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		6	311	0	0	0	0.000274275	0	6	311				
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T	rs533940451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16597	0.0		0.0	False		,,,				2504	0.0					ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2626-2628)Ggg>Agg		SRC kinase signaling inhibitor 1							37.0	43.0	41.0					17																	36708223		1921	4117	6038	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708223C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2626G>A	17.37:g.36708223C>T	ENSP00000264659:p.Gly876Arg					SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	p.G876R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			14	2850	-			748			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2626G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413836	0.62511	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46451	0.87	4.69	4.69	0.59074	.	0.232419	0.43260	D	0.000583	T	0.52403	0.1732	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	P;P;P;P	0.58266	0.836;0.677;0.677;0.677	T	0.52132	-0.8616	10	0.51188	T	0.08	-29.8471	16.9082	0.86133	0.0:1.0:0.0:0.0	.	182;748;748;876	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	876;657;730	ENSP00000264659:G876R	ENSP00000264659:G876R	G	-	1	0	SRCIN1	33961749	0.740000	0.28207	0.745000	0.31077	0.073000	0.16967	2.370000	0.44240	2.606000	0.88127	0.561000	0.74099	GGG		0.602	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		31	230	0	0	0	0.000409698	0	31	230				
AHNAK	79026	broad.mit.edu	37	11	62297572	62297572	+	Missense_Mutation	SNP	G	G	T	rs141288622	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:62297572G>T	ENST00000378024.4	-	5	4591	c.4317C>A	c.(4315-4317)ttC>ttA	p.F1439L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1439					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGAATTTGGGAC	0.403																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4315-4317)ttC>ttA		AHNAK nucleoprotein							204.0	213.0	210.0					11																	62297572		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297572G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4317C>A	11.37:g.62297572G>T	ENSP00000367263:p.Phe1439Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.F1439L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4591	-		Melanoma(852;0.155)	1439					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4317C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	9.761	1.170168	0.21621	.	.	ENSG00000124942	ENST00000378024	T	0.11821	2.74	4.32	-2.06	0.07298	.	.	.	.	.	T	0.24890	0.0604	M	0.76170	2.325	0.33910	D	0.639632	D	0.61697	0.99	P	0.59424	0.857	T	0.45469	-0.9259	9	0.10377	T	0.69	.	11.3291	0.49467	0.4092:0.0:0.5908:0.0	.	1439	Q09666	AHNK_HUMAN	L	1439	ENSP00000367263:F1439L	ENSP00000367263:F1439L	F	-	3	2	AHNAK	62054148	0.032000	0.19561	0.851000	0.33527	0.106000	0.19336	-0.846000	0.04336	-0.357000	0.08175	-0.387000	0.06579	TTC		0.403	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	1018	1	0	0.000151284	0.000151284	0.00252221	14	1018				
FLNB	2317	broad.mit.edu	37	3	58108948	58108948	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000295956.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3253-3255)atC>atA		filamin B, beta							162.0	146.0	151.0					3																	58108948		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108948C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3255C>A	3.37:g.58108948C>A						FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I	p.I1085I			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3420	+			1085					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3255C>A	CCDS2885.1																																																																																				0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		9	545	1	0	0.000442599	0.000442599	0.00556767	9	545				
ADAMTS1	9510	broad.mit.edu	37	21	28212612	28212612	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:28212612C>A	ENST00000284984.3	-	5	2102	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	550	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1648-1650)Gac>Tac		ADAM metallopeptidase with thrombospondin type 1 motif, 1							101.0	95.0	97.0					21																	28212612		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212612C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1648G>T	21.37:g.28212612C>A	ENSP00000284984:p.Asp550Tyr						p.D550Y	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	5	2102	-		Breast(209;0.000962)	550			Disintegrin.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1648G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649884	0.87958	.	.	ENSG00000154734	ENST00000284984	T	0.63744	-0.06	5.13	5.13	0.70059	.	.	.	.	.	T	0.73489	0.3593	L	0.58302	1.8	0.80722	D	1	D	0.55605	0.972	P	0.57152	0.814	T	0.75534	-0.3284	9	0.72032	D	0.01	.	19.128	0.93393	0.0:1.0:0.0:0.0	.	550	Q9UHI8	ATS1_HUMAN	Y	550	ENSP00000284984:D550Y	ENSP00000284984:D550Y	D	-	1	0	ADAMTS1	27134483	0.993000	0.37304	0.987000	0.45799	0.985000	0.73830	2.920000	0.48844	2.824000	0.97209	0.655000	0.94253	GAC		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			7	479	1	0	0.000442599	0.000442599	0.00556767	7	479				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	187	0	0	0	0.000589545	0	38	187				
RNF19A	25897	broad.mit.edu	37	8	101276930	101276930	+	Silent	SNP	G	G	T	rs202024866		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	425					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGGAGACACGATTACAGACA	0.363																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1273-1275)atC>atA		ring finger protein 19A, RBR E3 ubiquitin protein ligase							218.0	192.0	201.0					8																	101276930		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101276930G>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1275C>A	8.37:g.101276930G>T						RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	p.I425I	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		7	1591	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		425					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.1275C>A	CCDS6286.1																																																																																				0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		10	546	1	0	0.000673444	0.000673444	0.00785517	10	546				
SYT16	83851	broad.mit.edu	37	14	62551020	62551020	+	Nonsense_Mutation	SNP	C	C	A	rs191032067		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:62551020C>A	ENST00000430451.2	+	5	1738	c.1541C>A	c.(1540-1542)tCg>tAg	p.S514*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	514	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGGGGCTCTCGTACAATGCC	0.547																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1540-1542)tCg>tAg		synaptotagmin XVI							83.0	83.0	83.0					14																	62551020		2008	4156	6164	SO:0001587	stop_gained	83851							g.chr14:62551020C>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1541C>A	14.37:g.62551020C>A	ENSP00000394700:p.Ser514*						p.S514*	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1738	+			514			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	ENST00000430451.2	37	c.1541C>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684779	0.98431	.	.	ENSG00000139973	ENST00000430451	.	.	.	5.44	3.54	0.40534	.	0.187548	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2436	10.2901	0.43590	0.0:0.7905:0.1341:0.0754	.	.	.	.	X	514	.	ENSP00000394700:S514X	S	+	2	0	SYT16	61620773	0.912000	0.30974	0.917000	0.36280	0.990000	0.78478	1.901000	0.39838	0.779000	0.33543	0.643000	0.83706	TCG		0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		8	446	1	0	3.09899e-07	0.000274275	9.98704e-06	8	446				
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000437473.2	-	2	436	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343										HNSCC(66;0.2)																												ENST00000504921.2																			3	Substitution - Missense(3)	p.Q7E(3)	lung(3)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(19-21)Cag>Aag		myocyte enhancer factor 2C							304.0	304.0	304.0					5																	88119587		1825	4071	5896	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119587G>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.19C>A	5.37:g.88119587G>T	ENSP00000396219:p.Gln7Lys	HNSCC(66;0.2)				MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K	p.Q7K			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	691	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	7			Lys-rich (basic).|MADS-box.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.19C>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262694	0.80358	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	D	0.82291	0.5005	N	0.11892	0.195	0.80722	D	1	B;D;P;D	0.89917	0.166;1.0;0.909;0.999	B;D;D;D	0.83275	0.149;0.996;0.91;0.993	D	0.86237	0.1641	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	7	ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K	ENSP00000340874:Q7K	Q	-	1	0	MEF2C	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG		0.343	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		22	1138	1	0	0.00074312	0.00074312	0.00863566	22	1138				
C14orf37	145407	broad.mit.edu	37	14	58605921	58605921	+	Silent	SNP	G	G	T	rs377287561		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58605921G>T	ENST00000267485.7	-	2	350	c.156C>A	c.(154-156)acC>acA	p.T52T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	52						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTAGGTCATCGGTGTTCATCT	0.478																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(154-156)acC>acA		chromosome 14 open reading frame 37							272.0	268.0	269.0					14																	58605921		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605921G>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.156C>A	14.37:g.58605921G>T						C14orf37_ENST00000334342.5_5'UTR	p.T52T	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	350	-			52					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.156C>A	CCDS32089.1																																																																																				0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		9	963	1	0	2.17888e-05	0.000442599	0.00047966	9	963				
HERC2	8924	broad.mit.edu	37	15	28478313	28478313	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCGTTCTCGAATTATCTTT	0.383																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4654-4656)Cga>Aga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97.0	102.0	100.0					15																	28478313		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478313G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4654C>A	15.37:g.28478313G>T							p.R1552R	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	30	4762	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1552						Silent	SNP	ENST00000261609.7	37	c.4654C>A	CCDS10021.1																																																																																				0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	636	1	0	3.45872e-05	0.000422831	0.000740545	14	636				
NEB	4703	broad.mit.edu	37	2	152420173	152420173	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152420173C>A	ENST00000172853.10	-	91	13684	c.13537G>T	c.(13537-13539)Ggt>Tgt	p.G4513C	NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C|NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000427231.2_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C			P20929	NEBU_HUMAN	nebulin	4513					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATTCACCGATCACTTTT	0.438																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18640-18642)Ggt>Tgt		nebulin							332.0	311.0	317.0					2																	152420173		1920	4137	6057	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420173C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13537G>T	2.37:g.152420173C>A	ENSP00000172853:p.Gly4513Cys					NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000172853.10_Missense_Mutation_p.G4513C|NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C	p.G6214C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18842	-			6196					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18640G>T		.	.	.	.	.	.	.	.	.	.	C	16.83	3.232555	0.58777	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06687	3.3;3.28;3.29;3.27;3.3	5.54	-1.62	0.08372	.	0.415688	0.27258	N	0.020192	T	0.13030	0.0316	L	0.60067	1.865	0.09310	N	1	P;P	0.50066	0.92;0.931	P;P	0.52909	0.713;0.696	T	0.06588	-1.0818	10	0.62326	D	0.03	.	7.5055	0.27542	0.0:0.2894:0.1079:0.6027	.	4513;944	P20929;Q14215	NEBU_HUMAN;.	C	4513;6214;6214;562;944;4513	ENSP00000386259:G4513C;ENSP00000380505:G6214C;ENSP00000416578:G6214C;ENSP00000410961:G944C;ENSP00000172853:G4513C	ENSP00000172853:G4513C	G	-	1	0	NEB	152128419	0.952000	0.32445	0.428000	0.26697	0.966000	0.64601	1.256000	0.32921	-0.425000	0.07371	-0.262000	0.10625	GGT		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		11	1023	1	0	0.000673444	0.000673444	0.00785517	11	1023				
YEATS2	55689	broad.mit.edu	37	3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408																																						ENST00000305135.5																			1	Substitution - Missense(1)	p.G568W(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1702-1704)Ggg>Tgg		YEATS domain containing 2							159.0	155.0	156.0					3																	183479340		1869	4091	5960	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479340G>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1702G>T	3.37:g.183479340G>T	ENSP00000306983:p.Gly568Trp						p.G568W	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1897	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		568					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1702G>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393441	0.83011	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30714	1.52	6.03	6.03	0.97812	.	0.361792	0.27691	N	0.018248	T	0.47248	0.1435	L	0.27053	0.805	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	T	0.43925	-0.9361	10	0.87932	D	0	-17.9952	20.5666	0.99351	0.0:0.0:1.0:0.0	.	568	Q9ULM3	YETS2_HUMAN	W	568	ENSP00000306983:G568W	ENSP00000306983:G568W	G	+	1	0	YEATS2	184962034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.854000	0.98071	0.655000	0.94253	GGG		0.408	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		9	756	1	0	6.40141e-05	6.40141e-05	0.00117365	9	756				
HSPB11	51668	broad.mit.edu	37	1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	65					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAGTAACTTTGGATTACAAGC	0.318																																						ENST00000194214.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						c.(193-195)Caa>Aaa		heat shock protein family B (small), member 11							81.0	75.0	77.0					1																	54395724		1794	4060	5854	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54395724G>T	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.193C>A	1.37:g.54395724G>T	ENSP00000194214:p.Gln65Lys					HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K	p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN			3	582	-			65					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.193C>A	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798150	0.31777	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.237149	0.43260	D	0.000593	D	0.96614	0.8895	L	0.55103	1.725	0.40074	D	0.976054	B;B	0.28801	0.223;0.052	B;B	0.32724	0.151;0.038	D	0.95288	0.8392	10	0.13853	T	0.58	-16.6923	15.9014	0.79380	0.0:0.0:1.0:0.0	.	65;65	A6NIR2;Q9Y547	.;HSB11_HUMAN	K	65	ENSP00000194214:Q65K;ENSP00000360429:Q65K;ENSP00000360428:Q65K;ENSP00000360427:Q65K	ENSP00000194214:Q65K	Q	-	1	0	HSPB11	54168312	1.000000	0.71417	0.831000	0.32960	0.703000	0.40648	5.895000	0.69814	2.833000	0.97629	0.591000	0.81541	CAA		0.318	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		9	373	1	0	1.58986e-06	0.000673444	4.62318e-05	9	373				
FAT4	79633	broad.mit.edu	37	4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T	rs200719060		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2324	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2324Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTGGATCGGGAAACAAAA	0.418																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.R2324Q(2)	large_intestine(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6970-6972)cGg>cTg		FAT atypical cadherin 4							236.0	229.0	231.0					4																	126337730		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337730G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6971G>T	4.37:g.126337730G>T	ENSP00000377862:p.Arg2324Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	p.R2324L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6984	+			2324			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6971G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847652	0.71603	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01599	4.74;4.74	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.32106	U	0.006577	T	0.11196	0.0273	M	0.80847	2.515	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	D;D	0.69479	0.942;0.964	T	0.02789	-1.1110	10	0.37606	T	0.19	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	622;2324	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2324;622	ENSP00000377862:R2324L;ENSP00000335169:R622L	ENSP00000335169:R622L	R	+	2	0	FAT4	126557180	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	9.657000	0.98554	2.493000	0.84123	0.637000	0.83480	CGG		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	631	1	0	0.000219431	0.000219431	0.00342116	9	631				
KIF2C	11004	broad.mit.edu	37	1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372224.4	+	7	679	c.566G>T	c.(565-567)cGg>cTg	p.R189L	KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(403-405)cGg>cTg		kinesin family member 2C							58.0	66.0	63.0					1																	45219408		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45219408G>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.566G>T	1.37:g.45219408G>T	ENSP00000361298:p.Arg189Leu					KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372224.4_Missense_Mutation_p.R189L|KIF2C_ENST00000493027.1_3'UTR	p.R135L			Q99661	KIF2C_HUMAN			6	755	+	Acute lymphoblastic leukemia(166;0.155)		189			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.404G>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	32	5.129278	0.94473	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.75589	1.03;-0.94;-0.77;0.76;-0.92;-0.95	6.08	6.08	0.98989	.	0.055839	0.64402	D	0.000002	T	0.76630	0.4014	L	0.38175	1.15	0.53005	D	0.999969	B;P;P	0.47762	0.244;0.9;0.839	B;P;P	0.51135	0.098;0.66;0.542	T	0.76908	-0.2785	10	0.59425	D	0.04	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	148;135;189	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	148;189;148;180;76;135	ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L	ENSP00000361291:R135L	R	+	2	0	KIF2C	44991995	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.906000	0.87423	2.894000	0.99253	0.655000	0.94253	CGG		0.398	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		7	225	1	0	1.12685e-05	0.000274275	0.000275198	7	225				
IFIT1	3434	broad.mit.edu	37	10	91162663	91162663	+	Missense_Mutation	SNP	C	C	A	rs562615704	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:91162663C>A	ENST00000371804.3	+	2	798	c.631C>A	c.(631-633)Cgc>Agc	p.R211S	IFIT1_ENST00000546318.1_Missense_Mutation_p.R180S|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	211					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGGCTGTCCGCTTAAATCC	0.458																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(538-540)Cgc>Agc		interferon-induced protein with tetratricopeptide repeats 1							230.0	235.0	233.0					10																	91162663		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162663C>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.631C>A	10.37:g.91162663C>A	ENSP00000360869:p.Arg211Ser					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.R211S	p.R180S	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1825	+			211					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.538C>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685494	0.29872	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73363	-0.74;-0.74	5.39	2.98	0.34508	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.660597	0.15292	N	0.270123	T	0.65176	0.2666	L	0.43757	1.38	0.23366	N	0.997826	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.50432	-0.8829	10	0.27082	T	0.32	.	11.599	0.50990	0.7141:0.2859:0.0:0.0	.	211;211	Q5T7J1;P09914	.;IFIT1_HUMAN	S	211;180	ENSP00000360869:R211S;ENSP00000441968:R180S	ENSP00000360869:R211S	R	+	1	0	IFIT1	91152643	0.023000	0.18921	0.085000	0.20634	0.025000	0.11179	1.287000	0.33284	0.391000	0.25143	-0.375000	0.07067	CGC		0.458	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		11	1340	1	0	0.000274275	0.000274275	0.0039602	11	1340				
SEC22B	9554	broad.mit.edu	37	1	145109678	145109678	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:145109678G>T	ENST00000453618.1	+	0	667							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTCCTTTATTGAATTTGGTAA	0.383																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							570.0	566.0	567.0					1																	145109678		1964	4150	6114			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109678G>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109678G>T										O75396	SC22B_HUMAN			0	667	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.383	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		20	2414	1	0	0.000151284	0.000151284	0.00252221	20	2414				
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:71347033C>T	ENST00000304887.5	+	3	762	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000413702.1_Missense_Mutation_p.A191V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587																																						ENST00000413702.1																			1	Substitution - Missense(1)	p.A191V(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(571-573)gCc>gTc		mucin 7, secreted							359.0	290.0	314.0					4																	71347033		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347033C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.572C>T	4.37:g.71347033C>T	ENSP00000302021:p.Ala191Val					MUC7_ENST00000304887.5_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	860	+			191			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.572C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097885	0.20552	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59772	0.24;0.24;0.24	1.73	1.73	0.24493	.	.	.	.	.	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	1	B	0.32573	0.376	B	0.32583	0.148	T	0.17228	-1.0376	8	.	.	.	.	4.1514	0.10240	0.0:0.792:0.0:0.208	.	191	Q8TAX7	MUC7_HUMAN	V	191	ENSP00000407422:A191V;ENSP00000400585:A191V;ENSP00000302021:A191V	.	A	+	2	0	MUC7	71381622	0.000000	0.05858	0.058000	0.19502	0.018000	0.09664	0.323000	0.19593	1.273000	0.44346	0.655000	0.94253	GCC		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	475	0	0	0	8.12818e-05	0	6	475				
CAPRIN2	65981	broad.mit.edu	37	12	30881820	30881820	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:30881820C>A	ENST00000395805.2	-	8	2091	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000538387.1_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGGTGTCCAAGACTTTGG	0.473																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1543-1545)tGg>tTg		caprin family member 2							188.0	177.0	181.0					12																	30881820		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881820C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1544G>T	12.37:g.30881820C>A	ENSP00000379150:p.Trp515Leu					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W515L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L	p.W515L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2294	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		515						Missense_Mutation	SNP	ENST00000395805.2	37	c.1544G>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017222	0.75161	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.77620	2.24;-0.87;2.69;-0.79;-1.11;2.66;2.3	4.65	4.65	0.58169	.	0.276934	0.38217	N	0.001766	T	0.79924	0.4530	N	0.19112	0.55	0.42313	D	0.992223	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.994;0.996;0.994	T	0.80817	-0.1213	10	0.39692	T	0.17	-4.407	16.085	0.81038	0.0:1.0:0.0:0.0	.	515;241;515;515;515;515;515	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	L	261;515;515;515;182;515;241;434	ENSP00000415407:W261L;ENSP00000298892:W515L;ENSP00000379150:W515L;ENSP00000251071:W515L;ENSP00000309785:W182L;ENSP00000391479:W515L;ENSP00000438010:W434L	ENSP00000251071:W515L	W	-	2	0	CAPRIN2	30773087	1.000000	0.71417	0.977000	0.42913	0.902000	0.53008	4.524000	0.60552	2.299000	0.77371	0.561000	0.74099	TGG		0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		8	544	1	0	0.000442599	0.000442599	0.00556767	8	544				
POTEH	23784	broad.mit.edu	37	22	16279236	16279236	+	Silent	SNP	G	G	T	rs560275562	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:16279236G>T	ENST00000343518.6	-	4	1038	c.987C>A	c.(985-987)atC>atA	p.I329I	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTTTTTCTTGATTAAAAATT	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		68832	0.0		0.0	False		,,,				2504	0.002					ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(985-987)atC>atA		POTE ankyrin domain family, member H																																				SO:0001819	synonymous_variant	23784							g.chr22:16279236G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.987C>A	22.37:g.16279236G>T							p.I329I	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1038	-			329					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.987C>A	CCDS46658.1																																																																																				0.333	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		29	2649	1	0	0.000566183	0.000566183	0.00706542	29	2649				
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCGGTCTTCCGGGGTGCGCC	0.597																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(532-534)ccG>ccT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						109.0	127.0	121.0					5																	63257013		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257013C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.534G>T	5.37:g.63257013C>A						RP11-158J3.2_ENST00000502882.1_RNA	p.P178P	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	767	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	178					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.534G>T	CCDS34168.1																																																																																				0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		8	805	1	0	0.000442599	0.000442599	0.00556767	8	805				
ADAMTS20	80070	broad.mit.edu	37	12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3184-3186)tCa>tAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							167.0	145.0	152.0					12																	43825211		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43825211G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3185C>A	12.37:g.43825211G>T	ENSP00000374071:p.Ser1062*					ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	p.S1062*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	22	3184	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1062			TSP type-1 5.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.3185C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	g	37	6.446143	0.97572	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.06	0.35304	.	0.504438	0.16887	N	0.195457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0962	0.30829	0.253:0.0:0.747:0.0	.	.	.	.	X	1062;228;216;1062;1062	.	ENSP00000374068:S1062X	S	-	2	0	ADAMTS20	42111478	0.973000	0.33851	0.280000	0.24747	0.557000	0.35523	1.659000	0.37387	2.140000	0.66376	0.651000	0.88453	TCA		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	493	1	0	0.000442599	0.000442599	0.00556767	9	493				
MVB12B	89853	broad.mit.edu	37	9	129154438	129154438	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:129154438G>A	ENST00000361171.3	+	5	584	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q|MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	168	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ATCATGGGCCGGACCAAGCAG	0.512																																						ENST00000361171.3																			0											c.(502-504)cGg>cAg		multivesicular body subunit 12B							107.0	113.0	111.0					9																	129154438		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129154438G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.503G>A	9.37:g.129154438G>A	ENSP00000354772:p.Arg168Gln					MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q|MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q	p.R168Q	NM_033446.2	NP_258257.1					5	584	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.503G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876815	0.97055	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.9	5.9	0.94986	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.996	D;P;D;P	0.87578	0.998;0.773;0.998;0.825	T	0.77194	-0.2677	10	0.66056	D	0.02	-3.0422	19.2671	0.93993	0.0:0.0:1.0:0.0	.	161;153;37;168	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	Q	168;168;153;153;161	ENSP00000354772:R168Q;ENSP00000441988:R168Q;ENSP00000384751:R153Q;ENSP00000401379:R153Q;ENSP00000442846:R161Q	ENSP00000354772:R168Q	R	+	2	0	FAM125B	128194259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.859000	0.75467	2.788000	0.95919	0.650000	0.86243	CGG		0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		6	576	0	0	0	8.12818e-05	0	6	576				
PHF20L1	51105	broad.mit.edu	37	8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(52-54)Cgt>Agt		PHD finger protein 20-like 1							120.0	124.0	123.0					8																	133790126		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133790126C>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.52C>A	8.37:g.133790126C>A	ENSP00000378784:p.Arg18Ser					PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395383.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000315808.10_Missense_Mutation_p.R18S	p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	351	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		18			Tudor 1.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.52C>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586264	0.86851	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.49139	0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41	5.71	5.71	0.89125	Tudor-like, plant (1);Tudor domain (1);	0.156524	0.64402	D	0.000013	T	0.56775	0.2008	L	0.33624	1.015	0.80722	D	1	D;P;D;D;D	0.63046	0.988;0.755;0.992;0.99;0.987	P;B;P;P;P	0.60682	0.878;0.291;0.855;0.729;0.526	T	0.54456	-0.8291	10	0.46703	T	0.11	-8.4742	18.4154	0.90568	0.0:1.0:0.0:0.0	.	18;18;18;18;18	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	S	18	ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S	ENSP00000324519:R18S	R	+	1	0	PHF20L1	133859308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.685000	0.91497	0.585000	0.79938	CGT		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		8	529	1	0	1.76689e-08	0.000442599	6.24103e-07	8	529				
TBC1D8B	54885	broad.mit.edu	37	X	106092492	106092492	+	Intron	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:106092492C>T	ENST00000357242.5	+	12	2011				TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P619S|TBC1D8B_ENST00000276175.3_Intron	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATTTTATGCCACTAGTAAG	0.328																																						ENST00000310452.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1855-1857)Cca>Tca		TBC1 domain family, member 8B (with GRAM domain)							56.0	54.0	54.0					X																	106092492		2203	4300	6503	SO:0001627	intron_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106092492C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1838-763C>T	X.37:g.106092492C>T						TBC1D8B_ENST00000357242.5_Intron|TBC1D8B_ENST00000276175.3_Intron	p.P619S	NM_198881.1	NP_942582.1	Q0IIM8	TBC8B_HUMAN			12	2020	+			0			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1855C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	-	2.460	-0.324381	0.05350	.	.	ENSG00000133138	ENST00000310452	T	0.12774	2.65	.	.	.	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999999	P	0.52842	0.956	P	0.60541	0.876	T	0.10245	-1.0638	6	0.37606	T	0.19	.	.	.	.	.	619	B9A6K6	.	S	619	ENSP00000310675:P619S	ENSP00000310675:P619S	P	+	1	0	TBC1D8B	105979148	0.138000	0.22547	0.098000	0.21074	0.067000	0.16453	0.331000	0.19733	0.378000	0.24764	0.379000	0.24179	CCA		0.328	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		5	330	0	0	0	0.000274275	0	5	330				
PMM2	5373	broad.mit.edu	37	16	8900255	8900255	+	Missense_Mutation	SNP	C	C	A	rs80338700		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:8900255C>A	ENST00000268261.4	+	4	404	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q|PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:11058896, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM971224	PMM2	M	rs80338700	c.(337-339)cCg>cAg		phosphomannomutase 2							76.0	73.0	74.0					16																	8900255		2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900255C>A	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.338C>A	16.37:g.8900255C>A	ENSP00000268261:p.Pro113Gln					PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q	p.P113Q	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			4	404	+			113		P -> L (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.338C>A	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688655	0.88639	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.99394	-5.82;-5.82	5.29	5.29	0.74685	HAD-like domain (1);	0.049768	0.85682	D	0.000000	D	0.99616	0.9860	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.97892	1.0298	10	0.62326	D	0.03	.	17.9324	0.89002	0.0:1.0:0.0:0.0	.	30;113;113	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	Q	113;30	ENSP00000268261:P113Q;ENSP00000445879:P30Q	ENSP00000268261:P113Q	P	+	2	0	PMM2	8807756	1.000000	0.71417	0.944000	0.38274	0.875000	0.50365	7.466000	0.80914	2.466000	0.83321	0.591000	0.81541	CCG		0.403	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		11	391	1	0	3.86212e-05	0.000673444	0.000778902	11	391				
UTP14C	9724	broad.mit.edu	37	13	52603100	52603100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52603100G>T	ENST00000521776.2	+	2	893	c.160G>T	c.(160-162)Gga>Tga	p.G54*	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	54					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTCCCTTGATGGAAAGAATAG	0.458																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(160-162)Gga>Tga		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							203.0	210.0	208.0					13																	52603100		2203	4300	6503	SO:0001587	stop_gained	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603100G>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.160G>T	13.37:g.52603100G>T	ENSP00000428619:p.Gly54*					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.G54*	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	893	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	54					Q5FWG3|Q92555	Nonsense_Mutation	SNP	ENST00000521776.2	37	c.160G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	40	8.021356	0.98613	.	.	ENSG00000253797	ENST00000521776	.	.	.	2.69	2.69	0.31865	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.8199	11.1082	0.48216	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000428619:G54X	G	+	1	0	UTP14C	51501101	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.303000	0.51858	1.515000	0.48885	0.551000	0.68910	GGA		0.458	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		12	874	1	0	0.000422831	0.000422831	0.00556767	12	874				
SDR42E1	93517	broad.mit.edu	37	16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(520-522)gGc>gAc		short chain dehydrogenase/reductase family 42E, member 1							84.0	85.0	85.0					16																	82033377		2045	4198	6243	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033377C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.521G>A	16.37:g.82033377C>T	ENSP00000332407:p.Gly174Asp					SDR42E1_ENST00000534209.1_5'UTR	p.G174D	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	648	-			174					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.521G>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876151	0.17395	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.86297	-2.1;-2.1	5.76	4.81	0.61882	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.402695	0.32459	N	0.006073	D	0.83695	0.5310	L	0.58510	1.815	0.09310	N	0.999999	B	0.12630	0.006	B	0.18263	0.021	T	0.73616	-0.3926	10	0.41790	T	0.15	-2.9917	10.2802	0.43534	0.0:0.8505:0.0:0.1495	.	174	Q8WUS8	D42E1_HUMAN	D	174;171	ENSP00000332407:G174D;ENSP00000434529:G171D	ENSP00000332407:G174D	G	-	2	0	SDR42E1	80590878	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.918000	0.40006	1.431000	0.47355	0.655000	0.94253	GGC		0.557	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		30	514	0	0	0	0.000227799	0	30	514				
PHKA2	5256	broad.mit.edu	37	X	18911697	18911697	+	Missense_Mutation	SNP	G	G	T	rs137852288		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18911697G>T	ENST00000379942.4	-	33	4279	c.3614C>A	c.(3613-3615)cCg>cAg	p.P1205Q	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1205			P -> L (in GSD9A; type 1). {ECO:0000269|PubMed:7847371}.		carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCCCACTCGGAGCGCTGTC	0.527																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	GRCh37	CM950938	PHKA2	M	rs137852288	c.(3613-3615)cCg>cAg		phosphorylase kinase, alpha 2 (liver)							193.0	187.0	189.0					X																	18911697		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911697G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3614C>A	X.37:g.18911697G>T	ENSP00000369274:p.Pro1205Gln					PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	p.P1205Q	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			33	4279	-	Hepatocellular(33;0.183)		1205		P -> L (in GSD9A; type 1).			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3614C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490124	0.64074	.	.	ENSG00000044446	ENST00000379942	D	0.94537	-3.45	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	-19.5219	19.2244	0.93812	0.0:0.0:1.0:0.0	.	1205	P46019	KPB2_HUMAN	Q	1205	ENSP00000369274:P1205Q	ENSP00000369274:P1205Q	P	-	2	0	PHKA2	18821618	1.000000	0.71417	0.326000	0.25389	0.046000	0.14306	9.361000	0.97122	2.492000	0.84095	0.600000	0.82982	CCG		0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		11	919	1	0	0.00010058	0.00010058	0.00173709	11	919				
RP11-156P1.2	0	broad.mit.edu	37	17	45127368	45127368	+	IGR	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:45127368C>A	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							AAAAAGAGTCCAAAGTTCAGA	0.453																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127368C>A																													17.37:g.45127368C>A														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.453	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			15	1957	1	0	0.000274275	0.000274275	0.0039602	15	1957				
SPATA6	54558	broad.mit.edu	37	1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E207*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGGCTGTTCGTAGTTTTTT	0.408																																						ENST00000371847.3																			1	Substitution - Nonsense(1)	p.E207*(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(619-621)Gaa>Taa		spermatogenesis associated 6							259.0	262.0	261.0					1																	48865184		2203	4300	6503	SO:0001587	stop_gained	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48865184C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.619G>T	1.37:g.48865184C>A	ENSP00000360913:p.Glu207*					SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	p.E207*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			7	783	-			207					Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	37	c.619G>T	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	37	6.599110	0.97692	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.57	5.57	0.84162	.	0.120087	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5334	0.91000	0.0:1.0:0.0:0.0	.	.	.	.	X	207;207;135;48	.	ENSP00000360907:E48X	E	-	1	0	SPATA6	48637771	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.736000	0.38187	2.611000	0.88343	0.555000	0.69702	GAA		0.408	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		19	772	1	0	0.000229342	0.000229342	0.00356678	19	772				
ATP7A	538	broad.mit.edu	37	X	77298876	77298876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:77298876G>T	ENST00000341514.6	+	21	4222	c.4067G>T	c.(4066-4068)cGg>cTg	p.R1356L	ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L|ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1356					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGAGGATTCGGATAAATTTT	0.343																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4066-4068)cGg>cTg		ATPase, Cu++ transporting, alpha polypeptide							151.0	148.0	149.0					X																	77298876		2203	4299	6502	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298876G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4067G>T	X.37:g.77298876G>T	ENSP00000345728:p.Arg1356Leu					ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L|ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L	p.R1356L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			21	4222	+			1356					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4067G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296577	0.81025	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99239	-5.61;-5.61;-5.61	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.65320	2	0.80722	D	1	D	0.60160	0.987	P	0.57846	0.828	D	0.99853	1.1074	10	0.87932	D	0	-22.2346	18.1943	0.89815	0.0:0.0:1.0:0.0	.	1356	Q04656	ATP7A_HUMAN	L	1278;359;1356	ENSP00000343026:R1278L;ENSP00000343678:R359L;ENSP00000345728:R1356L	ENSP00000345728:R1356L	R	+	2	0	ATP7A	77185532	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.545000	0.82128	2.234000	0.73211	0.600000	0.82982	CGG		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		11	841	1	0	6.40141e-05	6.40141e-05	0.00117365	11	841				
SUN1	23353	broad.mit.edu	37	7	888057	888057	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000456758.2	+	9	835	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	SUN1_ENST00000413514.2_5'Flank|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATAGGCGGTGCGTCTTT	0.358																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(835-837)Ggt>Tgt		Sad1 and UNC84 domain containing 1							244.0	248.0	246.0					7																	888057		876	1991	2867	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:888057G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000456758.2:c.835G>T	7.37:g.888057G>T	ENSP00000388743:p.Gly279Cys					SUN1_ENST00000401592.1_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron	p.G279C			O94901	SUN1_HUMAN			9	835	+			0			EMD-binding.|SYNE2-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000456758.2	37	c.835G>T		.	.	.	.	.	.	.	.	.	.	G	18.66	3.672109	0.67928	.	.	ENSG00000164828	ENST00000456758;ENST00000429178	T;T	0.42513	0.97;0.97	5.56	4.67	0.58626	.	.	.	.	.	T	0.65943	0.2740	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70479	-0.4860	8	0.56958	D	0.05	.	16.0363	0.80631	0.0:0.1351:0.8649:0.0	.	221	O94901-3	.	C	279;52	ENSP00000388743:G279C;ENSP00000409909:G52C	ENSP00000409909:G52C	G	+	1	0	SUN1	854583	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	2.856000	0.48341	1.339000	0.45563	0.650000	0.86243	GGT		0.358	SUN1-204	KNOWN	basic	protein_coding	protein_coding		NM_025154		10	736	1	0	0.000219431	0.000219431	0.00342116	10	736				
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GATGAAAATTCGAAAATGGAG	0.313																																						ENST00000358776.4																			1	Substitution - Missense(1)	p.S87L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(259-261)tCg>tAg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						87.0	99.0	95.0					10																	124797320		2203	4296	6499	SO:0001587	stop_gained	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124797320C>A	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.260C>A	10.37:g.124797320C>A	ENSP00000357873:p.Ser87*					ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	p.S87*	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	3	274	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	87					B4DQ51|Q5SQN6|Q96CX7	Nonsense_Mutation	SNP	ENST00000358776.4	37	c.260C>A	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221647	0.95139	.	.	ENSG00000196177	ENST00000358776	.	.	.	5.93	5.01	0.66863	.	0.132878	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357873:S87X	S	+	2	0	ACADSB	124787310	0.964000	0.33143	0.998000	0.56505	0.979000	0.70002	4.641000	0.61375	1.466000	0.48025	0.655000	0.94253	TCG		0.313	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		10	682	1	0	0.000219431	0.000219431	0.00342116	10	682				
FLVCR1	28982	broad.mit.edu	37	1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	448					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTGGGTTTTGAATTTGCTGT	0.383																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1342-1344)Gaa>Taa		feline leukemia virus subgroup C cellular receptor 1							204.0	188.0	194.0					1																	213061865		2203	4300	6503	SO:0001587	stop_gained	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213061865G>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1342G>T	1.37:g.213061865G>T	ENSP00000355938:p.Glu448*					FLVCR1_ENST00000483790.1_3'UTR	p.E448*	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	7	1540	+			448					Q1HE16|Q86XY9|Q9NVR9	Nonsense_Mutation	SNP	ENST00000366971.4	37	c.1342G>T	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.416920|6.416920	0.97550|0.97550	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.87932|.	D|.	0|.	-27.963|-27.963	19.5996|19.5996	0.95554|0.95554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	448|246	.|.	ENSP00000355938:E448X|.	E|L	+|+	1|3	0|2	FLVCR1|FLVCR1	211128488|211128488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.238000|9.238000	0.95380|0.95380	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.383	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		9	462	1	0	2.27111e-07	0.00010058	7.55265e-06	9	462				
KLHL5	51088	broad.mit.edu	37	4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000504108.1	+	1	434	c.151C>A	c.(151-153)Cgt>Agt	p.R51S	KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCTGGTTCTCGTAAAGAGTT	0.433																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(13-15)Cgt>Agt		kelch-like family member 5							215.0	202.0	207.0					4																	39064285		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39064285C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.151C>A	4.37:g.39064285C>A	ENSP00000423897:p.Arg51Ser					KLHL5_ENST00000504108.1_Missense_Mutation_p.R51S|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	p.R5S	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			2	165	+			51					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.13C>A	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761994	0.69763	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.78364	-0.82;-0.88;-0.8;-0.82;-1.17	5.2	5.2	0.72013	.	0.086461	0.45867	D	0.000335	D	0.82724	0.5099	L	0.29908	0.895	0.58432	D	0.999997	D;P;D	0.63046	0.978;0.931;0.992	D;B;D	0.70487	0.969;0.391;0.969	D	0.84906	0.0845	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	51;51;51	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	S	85;5;51;51;51;51	ENSP00000261425:R5S;ENSP00000423897:R51S;ENSP00000352716:R51S;ENSP00000371355:R51S;ENSP00000261426:R51S	ENSP00000261425:R5S	R	+	1	0	KLHL5	38740680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.883000	0.56168	2.578000	0.87016	0.650000	0.86243	CGT		0.433	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			10	713	1	0	6.40141e-05	6.40141e-05	0.00117365	10	713				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000567960.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000564451.1_RNA								0	1198	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	420	0	0	0	0.000274275	0	8	420				
EPHA1	2041	broad.mit.edu	37	7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2014-2016)cGa>cTa		EPH receptor A1							209.0	210.0	210.0					7																	143092480		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143092480C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2015G>T	7.37:g.143092480C>A	ENSP00000275815:p.Arg672Leu		OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1676		p.R672L	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			12	2101	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	672			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2015G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234819	0.95207	.	.	ENSG00000146904	ENST00000275815	D	0.83250	-1.7	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000091	D	0.87912	0.6297	L	0.56280	1.765	0.58432	D	0.999999	D	0.63046	0.992	P	0.59948	0.866	D	0.87806	0.2628	10	0.49607	T	0.09	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	672	P21709	EPHA1_HUMAN	L	672	ENSP00000275815:R672L	ENSP00000275815:R672L	R	-	2	0	EPHA1	142802602	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.820000	0.69250	2.669000	0.90835	0.655000	0.94253	CGA		0.567	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			10	1017	1	0	0.000442599	0.000442599	0.00556767	10	1017				
MRPS7	51081	broad.mit.edu	37	17	73259586	73259586	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:73259586C>A	ENST00000245539.6	+	4	732	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K|MRPS7_ENST00000579761.1_Missense_Mutation_p.Q169K|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000538886.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	169					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCGTTTCTACCAGGTGAATGA	0.507																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(505-507)Cag>Aag		mitochondrial ribosomal protein S7							203.0	197.0	199.0					17																	73259586		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73259586C>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.505C>A	17.37:g.73259586C>A	ENSP00000245539:p.Gln169Lys					MRPS7_ENST00000245539.6_Missense_Mutation_p.Q169K|MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K	p.Q169K			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	732	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		169					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.505C>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095441	0.36952	.	.	ENSG00000125445	ENST00000245539	T	0.55052	0.54	5.13	5.13	0.70059	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85168	0.0996	10	0.87932	D	0	-38.3607	18.9531	0.92647	0.0:1.0:0.0:0.0	.	169	Q9Y2R9	RT07_HUMAN	K	169	ENSP00000245539:Q169K	ENSP00000245539:Q169K	Q	+	1	0	MRPS7	70771181	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.776000	0.85560	2.532000	0.85374	0.563000	0.77884	CAG		0.507	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		10	910	1	0	3.86212e-05	0.000673444	0.000778902	10	910				
MYO9A	4649	broad.mit.edu	37	15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1187	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAACCCTGAATTTCCAGA	0.358																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3559-3561)Cag>Aag		myosin IXA							160.0	169.0	166.0					15																	72191285		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72191285G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3559C>A	15.37:g.72191285G>T	ENSP00000348349:p.Gln1187Lys					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K	p.Q1187K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4031	-			1187			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3559C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783992	0.16189	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.82893	-1.65;-1.66;-1.65	4.91	1.66	0.24008	.	.	.	.	.	T	0.61261	0.2333	N	0.17082	0.46	0.24994	N	0.991511	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.50947	-0.8767	9	0.02654	T	1	.	3.1569	0.06508	0.0942:0.1287:0.5011:0.276	.	1168;1187	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	K	1187;1187;1168	ENSP00000348349:Q1187K;ENSP00000399162:Q1187K;ENSP00000398250:Q1168K	ENSP00000348349:Q1187K	Q	-	1	0	MYO9A	69978339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.069000	0.41481	1.044000	0.40200	0.585000	0.79938	CAG		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		12	1107	1	0	0.000274275	0.000274275	0.0039602	12	1107				
CYP20A1	57404	broad.mit.edu	37	2	204137450	204137450	+	Silent	SNP	C	C	A	rs201185429		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	220						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAACATGACTCGGAAAAAACA	0.313																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(658-660)Cgg>Agg		cytochrome P450, family 20, subfamily A, polypeptide 1							38.0	41.0	40.0					2																	204137450		2203	4296	6499	SO:0001819	synonymous_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204137450C>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.658C>A	2.37:g.204137450C>A						CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	p.R220R	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			6	781	+			220					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	37	c.658C>A	CCDS2357.1																																																																																				0.313	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		6	247	1	0	0.000274275	0.000274275	0.0039602	6	247				
CA1	759	broad.mit.edu	37	8	86250487	86250487	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Silent_p.R77R			P00915	CAH1_HUMAN	carbonic anhydrase I	77					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393																																						ENST00000523953.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(229-231)Cga>Aga		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						188.0	189.0	189.0					8																	86250487		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86250487G>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.229C>A	8.37:g.86250487G>T						CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R	p.R77R			P00915	CAH1_HUMAN			4	1275	-		all_lung(136;4.89e-06)	77						Silent	SNP	ENST00000523953.1	37	c.229C>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975851	0.02215	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.14	3.31	0.37934	.	.	.	.	.	T	0.68522	0.3010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65549	-0.6141	4	.	.	.	-1.2951	13.4955	0.61424	0.0:0.0:0.7637:0.2363	.	.	.	.	Q	13	.	.	P	-	2	0	CA1	86437739	0.998000	0.40836	0.030000	0.17652	0.077000	0.17291	1.135000	0.31454	0.534000	0.28695	0.591000	0.81541	CCG		0.393	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		11	604	1	0	5.50884e-06	0.00010058	0.000142319	11	604				
BMS1	9790	broad.mit.edu	37	10	43318597	43318597	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:43318597A>G	ENST00000374518.5	+	20	3227	c.3164A>G	c.(3163-3165)aAa>aGa	p.K1055R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1055					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGTGGCCAAATTTGAAGGT	0.428																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3163-3165)aAa>aGa		BMS1 ribosome biogenesis factor							76.0	80.0	79.0					10																	43318597		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318597A>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3164A>G	10.37:g.43318597A>G	ENSP00000363642:p.Lys1055Arg						p.K1055R	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3227	+			1055					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3164A>G	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893074	0.52121	.	.	ENSG00000165733	ENST00000374518	T	0.18174	2.23	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	L	0.54965	1.715	0.48901	D	0.999724	B	0.10296	0.003	B	0.10450	0.005	T	0.05162	-1.0902	10	0.09590	T	0.72	.	14.2326	0.65903	1.0:0.0:0.0:0.0	.	1055	Q14692	BMS1_HUMAN	R	1055	ENSP00000363642:K1055R	ENSP00000363642:K1055R	K	+	2	0	BMS1	42638603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.019000	0.70818	1.825000	0.53177	0.373000	0.22412	AAA		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		5	376	0	0	0	0.000602214	0	5	376				
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2323-2325)Gaa>Taa		dynein, axonemal, heavy chain 7							149.0	138.0	142.0					2																	196825552		1853	4104	5957	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825552C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2323G>T	2.37:g.196825552C>A	ENSP00000311273:p.Glu775*						p.E775*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2423	-			775			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2323G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	41	8.546907	0.98857	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000311273:E775X	E	-	1	0	DNAH7	196533797	0.999000	0.42202	0.920000	0.36463	0.863000	0.49368	4.270000	0.58896	2.708000	0.92522	0.650000	0.86243	GAA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	667	1	0	7.93312e-07	0.000219431	2.45534e-05	12	667				
RTTN	25914	broad.mit.edu	37	18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1515					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTGCTTTCTGAATTTCTATC	0.254																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4543-4545)tCa>tAa		rotatin							66.0	63.0	64.0					18																	67742608		1796	4068	5864	SO:0001587	stop_gained	25914						binding	g.chr18:67742608G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4544C>A	18.37:g.67742608G>T	ENSP00000255674:p.Ser1515*					RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			33	4830	-		Esophageal squamous(42;0.129)	1515					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.4544C>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	41	8.763837	0.98945	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.52	3.73	0.42828	.	1.265960	0.05147	N	0.495368	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1648	0.48537	0.2339:0.0:0.7661:0.0	.	.	.	.	X	1515	.	ENSP00000255674:S1515X	S	-	2	0	RTTN	65893588	0.407000	0.25352	0.006000	0.13384	0.034000	0.12701	1.450000	0.35134	0.303000	0.22785	-1.164000	0.01763	TCA		0.254	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		13	631	1	0	0.000308642	0.000308642	0.00435582	13	631				
EPHA5	2044	broad.mit.edu	37	4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	64	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCGTGAATCCAATAAATTCA	0.308										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(190-192)ttG>ttT		EPH receptor A5							48.0	49.0	49.0					4																	66509135		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66509135C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.192G>T	4.37:g.66509135C>A	ENSP00000273854:p.Leu64Phe	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	p.L64F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			2	792	-			64					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.192G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704062	0.68615	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.52	4.45	0.53987	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000538	T	0.32346	0.0826	M	0.86502	2.82	0.46356	D	0.999002	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.999;1.0	T	0.07481	-1.0770	10	0.87932	D	0	.	13.0437	0.58915	0.0:0.8901:0.0:0.1099	.	64;64;64;64	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	64	ENSP00000273854:L64F;ENSP00000389208:L64F;ENSP00000346899:L64F;ENSP00000427638:L64F	ENSP00000273854:L64F	L	-	3	2	EPHA5	66191730	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.486000	0.53215	2.753000	0.94483	0.467000	0.42956	TTG		0.308	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		8	318	1	0	3.09899e-07	0.000274275	9.98704e-06	8	318				
CAPS2	84698	broad.mit.edu	37	12	75678746	75678746	+	Silent	SNP	G	G	T	rs201652520		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000409445.3	-	16	1763	c.1567C>A	c.(1567-1569)Cga>Aga	p.R523R	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000393284.3_Silent_p.R291R|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Silent_p.R113R	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(871-873)Cga>Aga		calcyphosine 2							90.0	80.0	84.0					12																	75678746		2201	4300	6501	SO:0001819	synonymous_variant	84698						calcium ion binding	g.chr12:75678746G>T	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1567C>A	12.37:g.75678746G>T						CAPS2_ENST00000442339.2_Silent_p.R113R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409445.3_Silent_p.R523R|RP11-560G2.1_ENST00000549953.1_RNA	p.R291R			Q9BXY5	CAYP2_HUMAN			15	1472	-			523					Q6PH84|Q8N242|Q8NAY5	Silent	SNP	ENST00000409445.3	37	c.871C>A	CCDS9008.2																																																																																				0.274	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			10	409	1	0	0.000442599	0.000442599	0.00556767	10	409				
TRBV10-1	28585	broad.mit.edu	37	7	142231714	142231714	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142231714G>T	ENST00000390364.3	-	0	270									T cell receptor beta variable 10-1(gene/pseudogene)																		AACACCATATGAGTAATGGAT	0.512																																						ENST00000390364.3																			0																				180.0	178.0	178.0					7																	142231714		2020	4187	6207			0							g.chr7:142231714G>T	U17050		7q34	2012-02-07	2008-09-12		ENSG00000211717	ENSG00000211717		"""T cell receptors / TRB locus"""	12177	other	T cell receptor gene			"""T cell receptor beta variable 10-1"""			8650574	Standard	NG_001333		Approved	TRBV101, TCRBV10S1, TCRBV12S2A1T, TCRBV12S2			OTTHUMG00000158514		7.37:g.142231714G>T														0	270	-									RNA	SNP	ENST00000390364.3	37																																																																																						0.512	TRBV10-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351220.2	NG_001333		9	685	1	0	6.40141e-05	6.40141e-05	0.00117365	9	685				
MPZL2	10205	broad.mit.edu	37	11	118130817	118130817	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118130817C>A	ENST00000278937.2	-	4	664	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCGCTTTTTCCGGTAATGCTG	0.483																																						ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(535-537)cGg>cTg		myelin protein zero-like 2							222.0	223.0	222.0					11																	118130817		2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118130817C>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.536G>T	11.37:g.118130817C>A	ENSP00000278937:p.Arg179Leu					MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L	p.R179L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	664	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.536G>T	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468572	0.63625	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97404	-4.37;-4.37	5.81	4.9	0.64082	.	0.283692	0.38720	N	0.001590	D	0.92561	0.7637	L	0.27053	0.805	0.40702	D	0.982498	P	0.38745	0.645	B	0.33042	0.157	D	0.91619	0.5309	10	0.22109	T	0.4	-19.4703	14.541	0.67995	0.0:0.9304:0.0:0.0696	.	179	O60487	MPZL2_HUMAN	L	179	ENSP00000278937:R179L;ENSP00000408362:R179L	ENSP00000278937:R179L	R	-	2	0	MPZL2	117636027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.801000	0.38843	1.454000	0.47793	0.655000	0.94253	CGG		0.483	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		9	1246	1	0	0.000673444	0.000673444	0.00785517	9	1246				
CADPS	8618	broad.mit.edu	37	3	62556597	62556597	+	Missense_Mutation	SNP	C	C	A	rs567840502		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:62556597C>A	ENST00000383710.4	-	9	1943	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	CADPS_ENST00000283269.9_Missense_Mutation_p.G532C|CADPS_ENST00000357948.3_Missense_Mutation_p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	532	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACATTCTTACCGATGGCCCAT	0.398																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1594-1596)Ggt>Tgt		Ca++-dependent secretion activator							147.0	149.0	148.0					3																	62556597		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62556597C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1594G>T	3.37:g.62556597C>A	ENSP00000373215:p.Gly532Cys					CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	9	1943	-		Lung SC(41;0.0452)	532			PH.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1594G>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029139	0.75504	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;T	0.77229	-0.15;-0.09;-0.13;-1.08	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.81942	2.565	0.80722	D	1	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;1.0	D	0.89811	0.3982	10	0.87932	D	0	.	17.2657	0.87086	0.0:1.0:0.0:0.0	.	532;532;532;532	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	C	532;532;532;532;27	ENSP00000373215:G532C;ENSP00000350632:G532C;ENSP00000283269:G532C;ENSP00000439528:G27C	ENSP00000283269:G532C	G	-	1	0	CADPS	62531637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.718000	0.68455	2.668000	0.90789	0.655000	0.94253	GGT		0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		9	691	1	0	2.80697e-09	6.40141e-05	1.03231e-07	9	691				
LYSMD3	116068	broad.mit.edu	37	5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(418-420)Gaa>Taa		LysM, putative peptidoglycan-binding, domain containing 3							124.0	116.0	119.0					5																	89815139		1856	4092	5948	SO:0001587	stop_gained	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815139C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.418G>T	5.37:g.89815139C>A	ENSP00000314518:p.Glu140*					LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L	p.E140*	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	562	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	140					Q5H9U0|Q6PEK0|Q9NTE9	Nonsense_Mutation	SNP	ENST00000315948.6	37	c.418G>T	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119638|3.119638	0.56613|0.56613	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.400265|.	0.29537|.	N|.	0.011876|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.54706	.|0.759	.|T	.|0.78585	.|-0.2147	.|7	0.14656|0.87932	T|D	0.56|0	-10.0408|-10.0408	19.8807|19.8807	0.96899|0.96899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120	.|Q7Z3D4-2	.|.	X|L	140|120	.|.	ENSP00000314518:E140X|ENSP00000427683:R120L	E|R	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850895|89850895	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.226000|0.226000	0.24999|0.24999	6.891000|6.891000	0.75639|0.75639	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.373	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		14	486	1	0	0.000308642	0.000308642	0.00435582	14	486				
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(751-753)tCg>tAg		transmembrane protein 38A							158.0	164.0	162.0					19																	16799034		2203	4300	6503	SO:0001587	stop_gained	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799034C>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.752C>A	19.37:g.16799034C>A	ENSP00000187762:p.Ser251*						p.S251*	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	843	+			251					A8K9P9	Nonsense_Mutation	SNP	ENST00000187762.2	37	c.752C>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.198085	0.38806	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.12	1.93	0.25924	.	0.520628	0.22109	N	0.064515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.1108	7.7281	0.28771	0.161:0.7511:0.0:0.0879	.	.	.	.	X	251	.	ENSP00000187762:S251X	S	+	2	0	TMEM38A	16660034	0.085000	0.21516	0.001000	0.08648	0.069000	0.16628	2.684000	0.46951	0.227000	0.20999	0.462000	0.41574	TCG		0.642	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		13	961	1	0	0.000422831	0.000422831	0.00556767	13	961				
RAPGEF2	9693	broad.mit.edu	37	4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	323	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTAATGACCCGAGCCTCAGG	0.343																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(967-969)cCg>cAg		Rap guanine nucleotide exchange factor (GEF) 2							109.0	102.0	105.0					4																	160251634		1822	4076	5898	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251634C>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.968C>A	4.37:g.160251634C>A	ENSP00000264431:p.Pro323Gln						p.P323Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1387	+	all_hematologic(180;0.24)		323			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.968C>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260007	0.80246	.	.	ENSG00000109756	ENST00000264431	T	0.51071	0.72	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.46819	1.47	0.80722	D	1	B	0.32829	0.386	B	0.43413	0.419	T	0.45483	-0.9258	10	0.37606	T	0.19	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	323	Q9Y4G8	RPGF2_HUMAN	Q	323	ENSP00000264431:P323Q	ENSP00000264431:P323Q	P	+	2	0	RAPGEF2	160471084	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.825000	0.62708	2.894000	0.99253	0.655000	0.94253	CCG		0.343	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		11	537	1	0	1.49906e-05	0.000219431	0.000353665	11	537				
RPGRIP1L	23322	broad.mit.edu	37	16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000379925.3	-	3	255	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	69					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R69C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCTGCTTGCGGGCATGCTGT	0.368																																						ENST00000262135.4																			1	Substitution - Missense(1)	p.R69C(1)	large_intestine(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(205-207)Cgc>Agc		RPGRIP1-like							126.0	129.0	128.0					16																	53730088		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730088G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.205C>A	16.37:g.53730088G>T	ENSP00000369257:p.Arg69Ser					RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S	p.R69S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			3	298	-		all_cancers(37;0.0973)	69					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.205C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	6.569	0.473342	0.12461	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.87887	-2.31;-2.31	5.73	0.185	0.15096	.	0.439409	0.24615	N	0.037005	T	0.78329	0.4266	L	0.48642	1.525	0.25924	N	0.983084	B;B;B;B	0.18310	0.005;0.007;0.027;0.01	B;B;B;B	0.15052	0.005;0.011;0.011;0.012	T	0.62765	-0.6785	10	0.27082	T	0.32	-0.0133	6.443	0.21861	0.2592:0.0:0.553:0.1878	.	69;69;69;69	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	69	ENSP00000369257:R69S;ENSP00000262135:R69S	ENSP00000262135:R69S	R	-	1	0	RPGRIP1L	52287589	0.994000	0.37717	0.999000	0.59377	0.978000	0.69477	0.921000	0.28718	0.363000	0.24346	-0.244000	0.11960	CGC		0.368	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		12	871	1	0	0.00010058	0.00010058	0.00173709	12	871				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		8	1006	0	0	0	0.000442599	0	8	1006				
ACSL6	23305	broad.mit.edu	37	5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T	rs374665597		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379240.1	-	7	843	c.690C>A	c.(688-690)ttC>ttA	p.F230L	ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(763-765)ttC>ttA		acyl-CoA synthetase long-chain family member 6							307.0	281.0	290.0					5																	131323807		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131323807G>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.690C>A	5.37:g.131323807G>T	ENSP00000368542:p.Phe230Leu					ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F230L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L	p.F255L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	873	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	230					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.765C>A		.	.	.	.	.	.	.	.	.	.	g	7.687	0.690340	0.15039	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.92	-11.8	0.00035	AMP-dependent synthetase/ligase (1);	0.095334	0.85682	D	0.000000	T	0.20536	0.0494	N	0.17312	0.475	0.30886	N	0.730933	B;B;B;B;B;B;B	0.22909	0.063;0.005;0.007;0.077;0.005;0.005;0.005	B;B;B;B;B;B;B	0.35353	0.127;0.014;0.015;0.201;0.009;0.014;0.014	T	0.40001	-0.9586	10	0.19147	T	0.46	.	18.3368	0.90291	0.7201:0.0:0.2185:0.0614	.	230;245;220;230;195;255;255	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	230;255;245;195;195;255;241;230;139;230;210;230;195	ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L	ENSP00000296869:F255L	F	-	3	2	ACSL6	131351706	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-3.672000	0.00123	-3.369000	0.00041	TTC		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		13	877	1	0	0.000308642	0.000308642	0.00435582	13	877				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	170	0	0	0	0.000602214	0	5	170				
NIFK	84365	broad.mit.edu	37	2	122488581	122488581	+	Missense_Mutation	SNP	C	C	A	rs182148570		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:122488581C>A	ENST00000285814.4	-	4	524	c.452G>T	c.(451-453)cGg>cTg	p.R151L	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		151					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R151L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGTCCGATTCCGATTATACCG	0.353																																						ENST00000285814.4																			1	Substitution - Missense(1)	p.R151L(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(451-453)cGg>cTg									110.0	107.0	108.0					2																	122488581		2203	4299	6502	SO:0001583	missense	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122488581C>A																												ENST00000285814.4:c.452G>T	2.37:g.122488581C>A	ENSP00000285814:p.Arg151Leu						p.R151L	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			4	524	-			151					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.452G>T	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791026	0.31685	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000447132;ENST00000451734	T;T;T	0.46451	2.33;0.87;1.48	5.65	-0.183	0.13284	.	0.805371	0.11532	N	0.554599	T	0.29223	0.0727	L	0.32530	0.975	0.09310	N	1	B;B	0.32040	0.353;0.2	B;B	0.28991	0.097;0.029	T	0.15037	-1.0451	10	0.62326	D	0.03	-1.0E-4	8.7795	0.34783	0.0:0.2839:0.0:0.7161	.	151;151	B4DSM4;Q9BYG3	.;MK67I_HUMAN	L	151;151;46;119	ENSP00000285814:R151L;ENSP00000406227:R46L;ENSP00000398116:R119L	ENSP00000285814:R151L	R	-	2	0	MKI67IP	122205051	0.009000	0.17119	0.002000	0.10522	0.687000	0.40016	0.009000	0.13219	-0.249000	0.09569	-0.345000	0.07892	CGG		0.353	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			10	578	1	0	2.17888e-05	0.000442599	0.00047966	10	578				
MRPL35	51318	broad.mit.edu	37	2	86433238	86433238	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:86433238G>T	ENST00000337109.4	+	2	87	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	18					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGAATCCTACGGCCCCTGAAT	0.368																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(52-54)cGg>cTg		mitochondrial ribosomal protein L35							137.0	135.0	136.0					2																	86433238		2203	4300	6503	SO:0001583	missense	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86433238G>T	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.53G>T	2.37:g.86433238G>T	ENSP00000338389:p.Arg18Leu					MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L	p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			2	87	+			18					A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	ENST00000337109.4	37	c.53G>T	CCDS1988.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297990	0.81025	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.17054	2.31;2.57;2.3	5.62	5.62	0.85841	.	0.049873	0.85682	D	0.000000	T	0.42966	0.1226	M	0.75264	2.295	0.43168	D	0.994969	D	0.76494	0.999	D	0.79784	0.993	T	0.25328	-1.0135	10	0.66056	D	0.02	-10.9098	15.5672	0.76303	0.0:0.0:1.0:0.0	.	18	Q9NZE8	RM35_HUMAN	L	18	ENSP00000254644:R18L;ENSP00000338389:R18L;ENSP00000386255:R18L	ENSP00000254644:R18L	R	+	2	0	MRPL35	86286749	0.967000	0.33354	0.992000	0.48379	0.914000	0.54420	3.300000	0.51834	2.820000	0.97059	0.650000	0.86243	CGG		0.368	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		8	701	1	0	0.000274275	0.000274275	0.0039602	8	701				
ARHGAP15	55843	broad.mit.edu	37	2	144314047	144314047	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(994-996)gtC>gtA		Rho GTPase activating protein 15							166.0	171.0	169.0					2																	144314047		2203	4297	6500	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144314047C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.996C>A	2.37:g.144314047C>A						RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	p.V332V	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1163	+			332			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.996C>A	CCDS2184.1																																																																																				0.318	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		15	807	1	0	3.99206e-14	9.7654e-05	1.5897e-12	15	807				
TTN	7273	broad.mit.edu	37	2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000591111.1	-	209	43801	c.43577G>T	c.(43576-43578)cGa>cTa	p.R14526L	TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATTGGCTGTTCGATCTCTCCA	0.433																																						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.(48499-48501)cGa>cTa		titin							222.0	222.0	222.0					2																	179480172		1978	4153	6131	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480172C>A	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.43577G>T	2.37:g.179480172C>A	ENSP00000465570:p.Arg14526Leu					TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000591111.1_Missense_Mutation_p.R14526L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000589487.1_RNA	p.R16167L	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)		259	48724	-			14526			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48500G>T		.	.	.	.	.	.	.	.	.	.	C	12.85	2.060814	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.05330	-0.07	0.32798	N	0.500288	P;P;P;P	0.38992	0.653;0.653;0.653;0.653	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.56288	-0.8004	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	7102;7227;7294;14526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13599;7102;7294;7227;7102	ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L	ENSP00000340554:R7294L	R	-	2	0	TTN	179188417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.362000	0.52314	2.720000	0.93068	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	900	1	0	0.000422831	0.000422831	0.00556767	15	900				
MKLN1	4289	broad.mit.edu	37	7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	547					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTAGAAATTCATTCTGGATT	0.348																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1639-1641)tCa>tAa		muskelin 1, intracellular mediator containing kelch motifs							104.0	109.0	107.0					7																	131148090		2203	4299	6502	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131148090C>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1640C>A	7.37:g.131148090C>A	ENSP00000323527:p.Ser547*					MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*|MKLN1_ENST00000498778.1_3'UTR	p.S547*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			13	1680	+	Melanoma(18;0.162)		547					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.1640C>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	41	9.090263	0.99062	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3791	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	455;547;37	.	ENSP00000323527:S547X	S	+	2	0	MKLN1	130798630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.818000	0.97014	0.591000	0.81541	TCA		0.348	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		11	587	1	0	6.40141e-05	6.40141e-05	0.00117365	11	587				
CHPF2	54480	broad.mit.edu	37	7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1081-1083)cCt>cTt		chondroitin polymerizing factor 2							73.0	72.0	72.0					7																	150934530		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934530C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1082C>T	7.37:g.150934530C>T	ENSP00000035307:p.Pro361Leu					CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L	p.P361L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	2595	+			361					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1082C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548837	0.65311	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	.	0.090906	0.64402	D	0.000001	T	0.20577	0.0495	L	0.39898	1.24	0.80722	D	1	P;P	0.47034	0.889;0.879	P;P	0.48677	0.534;0.586	T	0.00728	-1.1591	10	0.29301	T	0.29	-29.2158	12.3421	0.55099	0.266:0.734:0.0:0.0	.	361;353	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	353;361;361	ENSP00000418914:P353L;ENSP00000035307:P361L	ENSP00000035307:P361L	P	+	2	0	CHPF2	150565463	0.997000	0.39634	0.951000	0.38953	0.715000	0.41141	3.589000	0.53972	2.652000	0.90054	0.655000	0.94253	CCT		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		36	313	0	0	0	0.000228196	0	36	313				
GABRG2	2566	broad.mit.edu	37	5	161578743	161578743	+	Intron	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:161578743G>T	ENST00000361925.4	+	9	1348				GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000356592.3_Missense_Mutation_p.R379L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGCTTCTTCGGATGTTTTCC	0.279																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1135-1137)cGg>cTg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							86.0	89.0	88.0					5																	161578743		2202	4297	6499	SO:0001627	intron_variant	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161578743G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1129-1356G>T	5.37:g.161578743G>T						GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000361925.4_Intron	p.R379L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	376					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1136G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973387	0.53614	.	.	ENSG00000113327	ENST00000356592;ENST00000414552	D;D	0.86297	-2.1;-2.1	5.84	5.84	0.93424	.	1.959290	0.02012	N	0.047077	D	0.84777	0.5547	N	0.22421	0.69	0.80722	D	1	B;B	0.22146	0.0;0.065	B;B	0.18263	0.003;0.021	T	0.47787	-0.9090	10	0.25751	T	0.34	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	419;379	F5HB82;P18507-2	.;.	L	379;419	ENSP00000349000:R379L;ENSP00000410732:R419L	ENSP00000349000:R379L	R	+	2	0	GABRG2	161511321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.843000	0.92142	2.764000	0.94973	0.650000	0.86243	CGG		0.279	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			8	500	1	0	6.40141e-05	6.40141e-05	0.00117365	8	500				
BTN1A1	696	broad.mit.edu	37	6	26501880	26501880	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(142-144)Ctg>Ttg		butyrophilin, subfamily 1, member A1							36.0	37.0	37.0					6																	26501880		2199	4288	6487	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501880C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.142C>T	6.37:g.26501880C>T							p.L48L	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			2	208	+			48			Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.142C>T	CCDS4614.1																																																																																				0.647	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		13	248	0	0	0	0.000151284	0	13	248				
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19.0	18.0	19.0					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			11	627	0	0	0	0.000566183	0	11	627				
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T	rs564191556		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(862-864)ttC>ttA		minichromosome maintenance complex component 9							118.0	111.0	113.0					6																	119238766		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119238766G>T	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.864C>A	6.37:g.119238766G>T	ENSP00000314505:p.Phe288Leu					MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	5	1150	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	288					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.864C>A	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454336	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.73;3.34	5.81	4.65	0.58169	.	.	.	.	.	T	0.16085	0.0387	M	0.87682	2.9	0.52099	D	0.999949	D	0.89917	1.0	D	0.70016	0.967	T	0.02098	-1.1214	9	0.36615	T	0.2	.	11.7956	0.52098	0.9314:0.0:0.0686:0.0	.	288	Q9NXL9-2	.	L	288	ENSP00000314505:F288L;ENSP00000312870:F288L	ENSP00000312870:F288L	F	-	3	2	MCM9	119280465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.102000	0.57776	1.044000	0.40200	-0.251000	0.11542	TTC		0.378	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		11	660	1	0	0.000151284	0.000151284	0.00252221	11	660				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		8	379	0	0	0	0.000274275	0	8	379				
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423																																						ENST00000261187.4																			2	Substitution - Missense(2)	p.R312Q(1)|p.R312L(1)	large_intestine(1)|lung(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(934-936)cGa>cTa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						144.0	144.0	144.0					12																	60169011		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169011G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.935G>T	12.37:g.60169011G>T	ENSP00000261187:p.Arg312Leu					SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L	p.R312L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1099	+			312					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.935G>T	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710851	0.68730	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261657	0.32533	N	0.005972	D	0.87071	0.6086	L	0.52364	1.645	0.43283	D	0.995255	D	0.65815	0.995	D	0.70935	0.971	D	0.85382	0.1120	9	.	.	.	.	11.3564	0.49617	0.1093:0.0:0.8907:0.0	.	312	O60669	MOT2_HUMAN	L	312;312;312;312;312;213	ENSP00000449547:R312L;ENSP00000448071:R312L;ENSP00000448742:R312L;ENSP00000446722:R312L;ENSP00000261187:R312L;ENSP00000443731:R213L	.	R	+	2	0	SLC16A7	58455278	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.668000	0.54554	2.880000	0.98712	0.650000	0.86243	CGA		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		10	675	1	0	0.000673444	0.000673444	0.00785517	10	675				
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(703-705)Tct>Cct		zinc finger protein 443							126.0	131.0	129.0					19																	12542283		2203	4297	6500	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542283A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.703T>C	19.37:g.12542283A>G	ENSP00000301547:p.Ser235Pro					CTD-3105H18.16_ENST00000595562.1_Intron	p.S235P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	900	-			235						Missense_Mutation	SNP	ENST00000301547.5	37	c.703T>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228421	0.22542	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07688	3.17	1.14	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.43701	1.375	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37957	-0.9683	9	0.38643	T	0.18	.	0.917	0.01307	0.1632:0.1613:0.3196:0.3559	.	235	Q9Y2A4	ZN443_HUMAN	P	235	ENSP00000301547:S235P	ENSP00000301547:S235P	S	-	1	0	ZNF443	12403283	0.000000	0.05858	0.001000	0.08648	0.618000	0.37518	-1.539000	0.02202	-2.594000	0.00455	-1.868000	0.00555	TCT		0.378	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		7	1089	0	0	0	0.000442599	0	7	1089				
IGF1R	3480	broad.mit.edu	37	15	99454613	99454613	+	Missense_Mutation	SNP	G	G	T	rs33958176	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99454613G>T	ENST00000268035.6	+	7	2143	c.1532G>T	c.(1531-1533)cGg>cTg	p.R511L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R511L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	511	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs33958176).		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACCTGGCACCGGTACCGGCCC	0.527																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM071804	IGF1R	M	rs33958176	c.(1531-1533)cGg>cTg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						169.0	140.0	149.0					15																	99454613		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99454613G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1532G>T	15.37:g.99454613G>T	ENSP00000268035:p.Arg511Leu					IGF1R_ENST00000558762.1_Missense_Mutation_p.R511L	p.R511L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		7	2143	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		511		R -> Q (in dbSNP:rs33958176).	Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1532G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178532	0.78564	.	.	ENSG00000140443	ENST00000268035	T	0.68181	-0.31	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000049	T	0.65923	0.2738	M	0.74258	2.255	0.53688	D	0.999978	P;P	0.49961	0.93;0.771	B;B	0.40982	0.345;0.124	T	0.67007	-0.5779	10	0.31617	T	0.26	.	14.326	0.66521	0.071:0.0:0.9289:0.0	.	511;511	C9J5X1;P08069	.;IGF1R_HUMAN	L	511	ENSP00000268035:R511L	ENSP00000268035:R511L	R	+	2	0	IGF1R	97272136	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.891000	0.63185	2.837000	0.97791	0.655000	0.94253	CGG		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		6	286	1	0	0.000157383	0.000157383	0.00254253	6	286				
GJA1	2697	broad.mit.edu	37	6	121768514	121768514	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:121768514G>T	ENST00000282561.3	+	2	678	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	174					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGATCCAGTGGTACATCTAT	0.498																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(520-522)tGg>tTg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						114.0	107.0	109.0					6																	121768514		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768514G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.521G>T	6.37:g.121768514G>T	ENSP00000282561:p.Trp174Leu						p.W174L	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	678	+			174					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.521G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565281	0.65651	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.95103	-3.61	5.66	5.66	0.87406	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	M	0.78223	2.4	0.80722	D	1	P	0.50710	0.938	P	0.52598	0.703	D	0.95969	0.8968	10	0.87932	D	0	.	19.7409	0.96230	0.0:0.0:1.0:0.0	.	174	P17302	CXA1_HUMAN	L	158;174	ENSP00000282561:W174L	ENSP00000282561:W174L	W	+	2	0	GJA1	121810213	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.759000	0.74934	2.682000	0.91365	0.460000	0.39030	TGG		0.498	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		8	418	1	0	0.000442599	0.000442599	0.00556767	8	418				
SEC16B	89866	broad.mit.edu	37	1	177913756	177913756	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483																																						ENST00000308284.6																			1	Substitution - coding silent(1)	p.T608T(1)	lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1819-1821)acG>acT		SEC16 homolog B (S. cerevisiae)							149.0	153.0	152.0					1																	177913756		1904	4130	6034	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913756C>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1821G>T	1.37:g.177913756C>A						RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.T607T	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			15	1910	-			607					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1821G>T	CCDS44281.1																																																																																				0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		9	533	1	0	3.07112e-06	6.40141e-05	8.57171e-05	9	533				
RHOA	387	broad.mit.edu	37	3	49395586	49395586	+	IGR	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:49395586G>T	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Silent_p.I42I|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Silent_p.I42I	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCACATTCTCGATAAGTAGTA	0.711																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(124-126)atC>atA		glutathione peroxidase 1	Glutathione(DB00143)						12.0	14.0	13.0					3																	49395586		1920	4108	6028	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395586G>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395586G>T						GPX1_ENST00000419349.1_Silent_p.I42I|GPX1_ENST00000496791.1_5'UTR	p.I42I	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	447	-			42					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.126C>A	CCDS2795.1																																																																																				0.711	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	59	1	0	2.0095e-06	8.12818e-05	5.78958e-05	4	59				
DOCK3	1795	broad.mit.edu	37	3	51393896	51393896	+	Missense_Mutation	SNP	G	G	T	rs374385144		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:51393896G>T	ENST00000266037.9	+	43	4498	c.4475G>T	c.(4474-4476)cGg>cTg	p.R1492L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1492	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCATCTCTCGGTGGTTTGAA	0.557																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4474-4476)cGg>cTg		dedicator of cytokinesis 3							128.0	122.0	124.0					3																	51393896		2024	4198	6222	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51393896G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4475G>T	3.37:g.51393896G>T	ENSP00000266037:p.Arg1492Leu						p.R1492L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	43	4498	+			1492			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4475G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529687	0.85706	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19669	2.13	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.83312	2.635	0.80722	D	1	B	0.27498	0.18	B	0.28385	0.089	T	0.26815	-1.0092	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1492	Q8IZD9	DOCK3_HUMAN	L	1492;288	ENSP00000266037:R1492L	ENSP00000266037:R1492L	R	+	2	0	DOCK3	51368936	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	CGG		0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		7	476	1	0	0.000442599	0.000442599	0.00556767	7	476				
FOXP3	50943	broad.mit.edu	37	X	49113997	49113997	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(340-342)cGg>cAg		forkhead box P3																																				SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49113997C>T		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.341G>A	X.37:g.49113997C>T	ENSP00000365380:p.Arg114Gln					FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	p.R114Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN			4	528	-	Ovarian(276;0.236)		114					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.341G>A	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079527	0.36662	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98120	-3.67;-3.73;-4.73;-3.73;-4.68;-4.13	5.34	4.47	0.54385	.	0.229124	0.30791	N	0.008864	D	0.92561	0.7637	N	0.19112	0.55	0.28547	N	0.91181	B;B;B;B;B	0.31435	0.174;0.323;0.226;0.174;0.266	B;B;B;B;B	0.21708	0.007;0.018;0.036;0.007;0.027	D	0.87553	0.2466	10	0.38643	T	0.18	.	8.6545	0.34055	0.0:0.8895:0.0:0.1105	.	114;114;79;114;79	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Q	114;79;79;79;64;114	ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q	ENSP00000365369:R64Q	R	-	2	0	FOXP3	49000941	0.999000	0.42202	0.966000	0.40874	0.913000	0.54294	0.873000	0.28052	1.119000	0.41883	0.513000	0.50165	CGG		0.682	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		9	78	0	0	0	0.00010058	0	9	78				
IDH3G	3421	broad.mit.edu	37	X	153053545	153053545	+	Missense_Mutation	SNP	C	C	A	rs370866394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:153053545C>A	ENST00000217901.5	-	6	588	c.392G>T	c.(391-393)cGa>cTa	p.R131L	IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000370092.3_Missense_Mutation_p.R131L|IDH3G_ENST00000497043.1_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	131					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R131Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGTTGTTTCGAGATTTGTG	0.592																																						ENST00000370092.3																			1	Substitution - Missense(1)	p.R131Q(1)	endometrium(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(391-393)cGa>cTa		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						247.0	218.0	228.0					X																	153053545		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053545C>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.392G>T	X.37:g.153053545C>A	ENSP00000217901:p.Arg131Leu					IDH3G_ENST00000217901.5_Missense_Mutation_p.R131L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L|IDH3G_ENST00000497043.1_5'UTR	p.R131L	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			6	577	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		131					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.392G>T	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576108	0.45902	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.74	4.85	0.62838	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.20445	0.575	0.80722	D	1	B;P	0.45827	0.145;0.867	B;B	0.38880	0.111;0.284	T	0.53019	-0.8497	10	0.02654	T	1	.	14.6761	0.68981	0.0:0.8583:0.1417:0.0	.	131;131	E9PDD5;P51553	.;IDH3G_HUMAN	L	131;131;131;73;27;108;71	ENSP00000359110:R131L;ENSP00000217901:R131L;ENSP00000359111:R131L;ENSP00000408529:R73L;ENSP00000401862:R108L;ENSP00000402747:R71L	ENSP00000217901:R131L	R	-	2	0	IDH3G	152706739	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.559000	0.82265	2.411000	0.81874	0.529000	0.55759	CGA		0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			12	1366	1	0	1.12685e-05	0.000274275	0.000275198	12	1366				
STAP1	26228	broad.mit.edu	37	4	68459057	68459057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68459057C>A	ENST00000265404.2	+	8	891	c.809C>A	c.(808-810)tCa>tAa	p.S270*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	270	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTTATATGTTCAACTGATGAA	0.333																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(808-810)tCa>tAa		signal transducing adaptor family member 1							142.0	142.0	142.0					4																	68459057		2203	4300	6503	SO:0001587	stop_gained	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68459057C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.809C>A	4.37:g.68459057C>A	ENSP00000265404:p.Ser270*					STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			8	891	+			270			SH2.		B2R980	Nonsense_Mutation	SNP	ENST00000265404.2	37	c.809C>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500692	0.96371	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	.	.	.	5.65	4.76	0.60689	.	0.741507	0.12341	N	0.477469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-5.1624	11.7349	0.51759	0.0:0.8225:0.1775:0.0	.	.	.	.	X	270	.	ENSP00000265404:S270X	S	+	2	0	STAP1	68141652	0.972000	0.33761	0.991000	0.47740	0.883000	0.51084	2.323000	0.43823	2.665000	0.90641	0.650000	0.86243	TCA		0.333	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		9	474	1	0	5.50884e-06	0.00010058	0.000142319	9	474				
ANKRD36B	57730	broad.mit.edu	37	2	98177188	98177188	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:98177188C>A	ENST00000443455.1	-	0	915							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GAATCTTTGTCGTCACTTGTA	0.323																																						ENST00000443455.1																			0													ankyrin repeat domain 36B							78.0	83.0	81.0					2																	98177188		1013	2192	3205			57730							g.chr2:98177188C>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177188C>A										Q8N2N9	AN36B_HUMAN			0	915	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.323	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		8	436	1	0	6.40141e-05	6.40141e-05	0.00117365	8	436				
ZNF358	140467	broad.mit.edu	37	19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	143					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGTGCTccccgcccccgccag	0.741																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(427-429)Gcc>Tcc		zinc finger protein 358							11.0	13.0	12.0					19																	7584555		2166	4242	6408	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584555G>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.427G>T	19.37:g.7584555G>T	ENSP00000472305:p.Ala143Ser					ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	p.A143S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	597	+			143					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.427G>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318275	0.60524	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07021	3.23	4.59	3.53	0.40419	.	.	.	.	.	T	0.06325	0.0163	N	0.17594	0.5	0.19300	N	0.999978	B	0.33940	0.433	B	0.31290	0.127	T	0.32798	-0.9893	9	0.49607	T	0.09	-17.385	12.6401	0.56705	0.0:0.1684:0.8316:0.0	.	143	Q9NW07	ZN358_HUMAN	S	143	ENSP00000377873:A143S	ENSP00000354703:A143S	A	+	1	0	ZNF358	7490555	0.567000	0.26626	0.366000	0.25914	0.772000	0.43724	2.186000	0.42593	1.041000	0.40125	0.462000	0.41574	GCC		0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			4	125	1	0	2.56e-06	0.00024832	7.3418e-05	4	125				
AKAP13	11214	broad.mit.edu	37	15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4087-4089)tCa>tAa		A kinase (PRKA) anchor protein 13							112.0	107.0	108.0					15																	86128981		2202	4299	6501	SO:0001587	stop_gained	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86128981C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4088C>A	15.37:g.86128981C>A	ENSP00000378026:p.Ser1363*					AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	p.S1363*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			8	4183	+			1363					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	c.4088C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	42	9.723090	0.99248	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9761	0.35937	0.0:0.8295:0.0:0.1705	.	.	.	.	X	1363;1363;1362;1362	.	ENSP00000354718:S1363X	S	+	2	0	AKAP13	83929985	0.001000	0.12720	0.003000	0.11579	0.539000	0.34962	0.903000	0.28475	0.796000	0.33947	0.591000	0.81541	TCA		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		9	380	1	0	0.000442599	0.000442599	0.00556767	9	380				
USP53	54532	broad.mit.edu	37	4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000274030.6	+	19	4339	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(3160-3162)Cat>Aat		ubiquitin specific peptidase 53							51.0	49.0	50.0					4																	120214304		1844	4088	5932	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120214304C>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3160C>A	4.37:g.120214304C>A	ENSP00000274030:p.His1054Asn					USP53_ENST00000274030.6_Missense_Mutation_p.H1054N	p.H1054N			Q70EK8	UBP53_HUMAN			15	3704	+			1054						Missense_Mutation	SNP	ENST00000274030.6	37	c.3160C>A	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357258	0.61293	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53857	0.6;0.6	5.89	4.16	0.48862	.	0.078821	0.53938	D	0.000049	T	0.49626	0.1568	M	0.66939	2.045	0.27596	N	0.949139	P	0.48764	0.915	B	0.40165	0.321	T	0.55730	-0.8095	10	0.87932	D	0	-14.5865	11.5943	0.50964	0.0:0.8585:0.0:0.1415	.	1054	Q70EK8	UBP53_HUMAN	N	1054	ENSP00000274030:H1054N;ENSP00000409906:H1054N	ENSP00000274030:H1054N	H	+	1	0	USP53	120433752	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.876000	0.48498	1.502000	0.48669	0.585000	0.79938	CAT		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		9	438	1	0	0.000274275	0.000274275	0.0039602	9	438				
CEP152	22995	broad.mit.edu	37	15	49034207	49034207	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:49034207C>A	ENST00000380950.2	-	25	4113	c.3926G>T	c.(3925-3927)cGa>cTa	p.R1309L	CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L|CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1309					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCGCATCTTTCGGGCGGTTTC	0.433																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3925-3927)cGa>cTa		centrosomal protein 152kDa							178.0	162.0	167.0					15																	49034207		1899	4117	6016	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49034207C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3926G>T	15.37:g.49034207C>A	ENSP00000370337:p.Arg1309Leu					CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L|CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L	p.R1309L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	25	4113	-		all_lung(180;0.0428)	1253					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3926G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025413	0.75390	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.61274	0.12;0.34;0.18	6.03	5.1	0.69264	.	0.072442	0.53938	D	0.000060	T	0.73148	0.3550	M	0.66939	2.045	0.53005	D	0.999963	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.69479	0.917;0.964;0.964	T	0.75193	-0.3404	10	0.87932	D	0	-15.0506	15.5916	0.76534	0.0:0.9335:0.0:0.0665	.	1216;1309;1253	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	L	1309;1216;1253	ENSP00000370337:R1309L;ENSP00000321000:R1216L;ENSP00000382271:R1253L	ENSP00000321000:R1216L	R	-	2	0	CEP152	46821499	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.664000	0.61540	2.861000	0.98227	0.655000	0.94253	CGA		0.433	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		8	649	1	0	3.86212e-05	0.000673444	0.000778902	8	649				
CDKAL1	54901	broad.mit.edu	37	6	20781448	20781448	+	Missense_Mutation	SNP	C	C	A	rs368733380		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:20781448C>A	ENST00000378610.1	+	6	600	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q|CDKAL1_ENST00000274695.4_Missense_Mutation_p.P197Q			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	197					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGGATTTGCCGAAGATTAGG	0.388																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(589-591)cCg>cAg		CDK5 regulatory subunit associated protein 1-like 1							129.0	127.0	127.0					6																	20781448		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20781448C>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.590C>A	6.37:g.20781448C>A	ENSP00000367873:p.Pro197Gln					RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378610.1_Missense_Mutation_p.P197Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q	p.P197Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		8	757	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		197					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.590C>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056802	0.93793	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.22743	1.94;1.94;1.94	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.92691	3.335	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.933	T	0.63611	-0.6598	10	0.87932	D	0	.	20.5837	0.99426	0.0:1.0:0.0:0.0	.	127;197	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	Q	197;127;197	ENSP00000274695:P197Q;ENSP00000367889:P127Q;ENSP00000367873:P197Q	ENSP00000274695:P197Q	P	+	2	0	CDKAL1	20889427	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	7.477000	0.81069	2.871000	0.98454	0.638000	0.83543	CCG		0.388	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		7	389	1	0	0.000274275	0.000274275	0.0039602	7	389				
FANCM	57697	broad.mit.edu	37	14	45605717	45605717	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:45605717G>A	ENST00000267430.5	+	1	568	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000542564.2_Silent_p.P161P|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGTATCCCGCAATCCCACA	0.502								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(481-483)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							62.0	63.0	62.0					14																	45605717		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605717G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.483G>A	14.37:g.45605717G>A						FANCM_ENST00000542564.2_Silent_p.P161P|FANCM_ENST00000556036.1_Silent_p.P161P	p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	568	+			161			Helicase ATP-binding.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.483G>A	CCDS32070.1																																																																																				0.502	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	287	0	0	0	0.000157383	0	6	287				
PRKCA	5578	broad.mit.edu	37	17	64728884	64728884	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:64728884C>A	ENST00000413366.3	+	9	1023	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CAACCTTGACCGAGTGAAACT	0.478																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(997-999)Cga>Aga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						141.0	140.0	140.0					17																	64728884		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64728884C>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.997C>A	17.37:g.64728884C>A							p.R333R	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		9	1023	+			333					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.997C>A	CCDS11664.1																																																																																				0.478	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			10	719	1	0	0.000442599	0.000442599	0.00556767	10	719				
ACE2	59272	broad.mit.edu	37	X	15610443	15610443	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:15610443C>A	ENST00000252519.3	-	3	450	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_ENST00000427411.1_Missense_Mutation_p.L116F			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	116					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GAATTGTGTTCAACTGCAAAT	0.313																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(346-348)ttG>ttT		angiotensin I converting enzyme 2	Moexipril(DB00691)						141.0	141.0	141.0					X																	15610443		2203	4297	6500	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15610443C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.348G>T	X.37:g.15610443C>A	ENSP00000252519:p.Leu116Phe					ACE2_ENST00000252519.3_Missense_Mutation_p.L116F	p.L116F	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			4	564	-	Hepatocellular(33;0.183)		116					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.348G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	7.521	0.656759	0.14580	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.31510	1.49;1.49	5.6	0.825	0.18824	.	0.075855	0.53938	D	0.000048	T	0.40272	0.1110	M	0.84219	2.685	0.30392	N	0.780935	P	0.47762	0.9	P	0.49665	0.618	T	0.43278	-0.9401	10	0.59425	D	0.04	-10.4956	5.6617	0.17672	0.0:0.5064:0.1256:0.368	.	116	Q9BYF1	ACE2_HUMAN	F	116	ENSP00000252519:L116F;ENSP00000389326:L116F	ENSP00000252519:L116F	L	-	3	2	ACE2	15520364	1.000000	0.71417	0.340000	0.25575	0.120000	0.20174	1.766000	0.38491	0.021000	0.15133	-0.303000	0.09236	TTG		0.313	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			10	713	1	0	2.27111e-07	0.00010058	7.55265e-06	10	713				
PLA1A	51365	broad.mit.edu	37	3	119325737	119325737	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119325737G>T	ENST00000273371.4	+	2	262	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	64					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTAGCTGTGGGCAGCTAGT	0.488																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(190-192)Ggg>Tgg		phospholipase A1 member A							154.0	159.0	157.0					3																	119325737		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325737G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.190G>T	3.37:g.119325737G>T	ENSP00000273371:p.Gly64Trp					PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W|PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000488919.1_Intron	p.G64W	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			2	262	+			64					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.190G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151990	0.57151	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91631	-2.68;-2.88;-2.68	5.04	5.04	0.67666	Lipase, N-terminal (1);	0.150264	0.64402	D	0.000014	D	0.96506	0.8860	M	0.89534	3.04	0.48632	D	0.999682	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95733	0.8776	10	0.38643	T	0.18	-19.1743	15.7681	0.78143	0.0:0.0:1.0:0.0	.	64;64	Q53H76-3;Q53H76	.;PLA1A_HUMAN	W	64;64;48	ENSP00000273371:G64W;ENSP00000417326:G64W;ENSP00000418793:G48W	ENSP00000273371:G64W	G	+	1	0	PLA1A	120808427	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.717000	0.68446	2.791000	0.96007	0.655000	0.94253	GGG		0.488	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			9	634	1	0	2.17888e-05	0.000442599	0.00047966	9	634				
ABCC4	10257	broad.mit.edu	37	13	95847155	95847155	+	Missense_Mutation	SNP	G	G	T	rs200696756		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:95847155G>T	ENST00000376887.4	-	9	1312	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	400					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGCAGCTGACGGTTGCGCTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1198-1200)Cgt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						110.0	97.0	101.0					13																	95847155		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95847155G>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1198C>A	13.37:g.95847155G>T	ENSP00000366084:p.Arg400Ser					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S	p.R400S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			9	1312	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		400					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1198C>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	5.565	0.289104	0.10513	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90900	-2.68;-2.66;-2.75;-2.69	4.98	-5.98	0.02220	ABC transporter, transmembrane domain, type 1 (1);	1.564160	0.03478	N	0.214653	T	0.72953	0.3525	N	0.04705	-0.18	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.67662	-0.5613	10	0.09590	T	0.72	.	2.5393	0.04722	0.1621:0.0945:0.3336:0.4098	.	325;400;400;400;400	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	400;400;325;400	ENSP00000388657:R400S;ENSP00000366084:R400S;ENSP00000442024:R325S;ENSP00000398562:R400S	ENSP00000366084:R400S	R	-	1	0	ABCC4	94645156	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.368000	0.20399	-0.928000	0.03761	0.462000	0.41574	CGT		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	241	1	0	0.000274275	0.000274275	0.0039602	6	241				
SUV420H1	51111	broad.mit.edu	37	11	67941364	67941364	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:67941364C>A	ENST00000304363.4	-	6	913	c.560G>T	c.(559-561)cGa>cTa	p.R187L	SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	187					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAAACATTCGCAAATAAAT	0.318																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(559-561)cGa>cTa		suppressor of variegation 4-20 homolog 1 (Drosophila)							79.0	74.0	76.0					11																	67941364		2199	4292	6491	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941364C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.560G>T	11.37:g.67941364C>A	ENSP00000305899:p.Arg187Leu					SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L	p.R187L	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			6	913	-			187					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.560G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030461	0.93575	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271;ENST00000453170	D;D;D;D;D;D;T	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;0.96	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	N	0.25789	0.76	0.80722	D	1	P;P;D;D	0.76494	0.938;0.67;0.996;0.999	B;P;D;D	0.85130	0.371;0.495;0.992;0.997	D	0.90878	0.4751	10	0.62326	D	0.03	-10.1498	19.0028	0.92841	0.0:1.0:0.0:0.0	.	164;187;187;187	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	L	187;187;187;187;164;15;116	ENSP00000305899:R187L;ENSP00000385965:R187L;ENSP00000385640:R187L;ENSP00000385005:R187L;ENSP00000384724:R164L;ENSP00000433589:R15L;ENSP00000406377:R116L	ENSP00000305899:R187L	R	-	2	0	SUV420H1	67697940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.752000	0.85141	2.669000	0.90835	0.591000	0.81541	CGA		0.318	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		10	674	1	0	1.58986e-06	0.000673444	4.62318e-05	10	674				
LEO1	123169	broad.mit.edu	37	15	52254651	52254651	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:52254651C>A	ENST00000299601.5	-	3	914	c.854G>T	c.(853-855)cGa>cTa	p.R285L	LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	285	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCGTTTCATTCGTAAAACTTC	0.353																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(853-855)cGa>cTa		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							80.0	74.0	76.0					15																	52254651		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52254651C>A	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.854G>T	15.37:g.52254651C>A	ENSP00000299601:p.Arg285Leu					LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	3	914	-			285			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.854G>T	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229986	0.58777	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.54	5.54	0.83059	.	0.062516	0.64402	D	0.000005	T	0.50548	0.1622	L	0.56769	1.78	0.80722	D	1	P;P	0.40515	0.491;0.719	B;B	0.34824	0.19;0.149	T	0.50767	-0.8789	9	0.29301	T	0.29	.	13.4184	0.60982	0.0:0.9236:0.0:0.0764	.	285;285	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	L	285;263;285	.	ENSP00000299601:R285L	R	-	2	0	LEO1	50041943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.653000	0.67967	2.597000	0.87782	0.455000	0.32223	CGA		0.353	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		7	283	1	0	0.000442599	0.000442599	0.00556767	7	283				
STARD3NL	83930	broad.mit.edu	37	7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A	rs553968130	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373																																						ENST00000009041.7																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)ttC>ttA		STARD3 N-terminal like							145.0	130.0	135.0					7																	38247300		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38247300C>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.195C>A	7.37:g.38247300C>A	ENSP00000009041:p.Phe65Leu					STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L	p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN			2	452	+			65			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.195C>A	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253884	0.80135	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	5.02	0.67125	MENTAL domain (2);	0.042989	0.85682	D	0.000000	T	0.61148	0.2324	L	0.53617	1.68	0.50813	D	0.999893	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.904	T	0.57888	-0.7733	10	0.45353	T	0.12	-8.6394	9.8732	0.41187	0.0:0.1389:0.0:0.8611	.	65;65	C9JKL2;O95772	.;MENTO_HUMAN	L	65;58;65;65;65;65;65	ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L	ENSP00000009041:F65L	F	+	3	2	STARD3NL	38213825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.598000	0.36740	0.576000	0.29452	-0.254000	0.11334	TTC		0.373	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			8	331	1	0	0.000442599	0.000442599	0.00556767	8	331				
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(400-402)Cgt>Agt		cytokine-like 1							128.0	115.0	119.0					4																	5016889		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016889G>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.400C>A	4.37:g.5016889G>T	ENSP00000303550:p.Arg134Ser						p.R134S	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	426	-			134						Missense_Mutation	SNP	ENST00000307746.4	37	c.400C>A	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.983|6.983	0.551462|0.551462	0.13374|0.13374	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508	T|.	0.28454|.	1.61|.	4.4|4.4	1.35|1.35	0.21983|0.21983	.|.	2.772270|.	0.00864|.	N|.	0.001945|.	T|.	0.11793|.	0.0287|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.25609|.	0.13|.	B|.	0.19946|.	0.027|.	T|.	0.25537|.	-1.0129|.	10|.	0.21540|.	T|.	0.41|.	0.151|0.151	1.9715|1.9715	0.03407|0.03407	0.1191:0.202:0.4717:0.2072|0.1191:0.202:0.4717:0.2072	.|.	134|.	Q9NRR1|.	CYTL1_HUMAN|.	S|X	134|73	ENSP00000303550:R134S|.	ENSP00000303550:R134S|.	R|S	-|-	1|2	0|0	CYTL1|CYTL1	5067790|5067790	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.318000|0.318000	0.19504|0.19504	0.270000|0.270000	0.21984|0.21984	0.511000|0.511000	0.50034|0.50034	CGT|TCG		0.488	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		9	446	1	0	0.000673444	0.000673444	0.00785517	9	446				
GAB1	2549	broad.mit.edu	37	4	144378878	144378878	+	Intron	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:144378878G>T	ENST00000262994.4	+	7	1887				GAB1_ENST00000262995.4_Missense_Mutation_p.R544L|GAB1_ENST00000505913.1_Intron	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTTTAGAGCGAACTGATTCA	0.338																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1630-1632)cGa>cTa		GRB2-associated binding protein 1							55.0	51.0	52.0					4																	144378878		2203	4299	6502	SO:0001627	intron_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144378878G>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1586-1660G>T	4.37:g.144378878G>T						GAB1_ENST00000505913.1_Intron|GAB1_ENST00000262994.4_Intron	p.R544L	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			7	2058	+	all_hematologic(180;0.158)		526					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1631G>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961256	0.74016	.	.	ENSG00000109458	ENST00000262995	T	0.13657	2.57	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000036	T	0.22475	0.0542	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.14254	-1.0479	10	0.31617	T	0.26	-15.247	18.7266	0.91716	0.0:0.0:1.0:0.0	.	544	Q13480-2	.	L	544	ENSP00000262995:R544L	ENSP00000262995:R544L	R	+	2	0	GAB1	144598328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.426000	0.82243	0.655000	0.94253	CGA		0.338	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		8	341	1	0	0.000442599	0.000442599	0.00556767	8	341				
RP11-645C24.5	0	broad.mit.edu	37	16	21809097	21809097	+	lincRNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:21809097C>A	ENST00000567370.1	-	0	0				RRN3P1_ENST00000546471.1_RNA																							AAAAGTTAACCACTGAGGGCA	0.338																																						ENST00000546471.1																			0																																																			0							g.chr16:21809097C>A																													16.37:g.21809097C>A														0	2098	-									RNA	SNP	ENST00000567370.1	37																																																																																						0.338	RP11-645C24.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430026.1			9	508	1	0	6.40141e-05	6.40141e-05	0.00117365	9	508				
SH2D5	400745	broad.mit.edu	37	1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000444387.2	-	7	1134	c.737G>A	c.(736-738)cGc>cAc	p.R246H	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	246								p.R162H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCCCGAGCGGATCACCTT	0.667																																						ENST00000375031.1																			1	Substitution - Missense(1)	p.R162H(1)	prostate(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(484-486)cGc>cAc		SH2 domain containing 5							46.0	55.0	52.0					1																	21050638		2093	4200	6293	SO:0001583	missense	400745							g.chr1:21050638C>T	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.737G>A	1.37:g.21050638C>T	ENSP00000406026:p.Arg246His					SH2D5_ENST00000444387.2_Missense_Mutation_p.R246H|SH2D5_ENST00000460804.1_5'UTR	p.R162H	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1109	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	162					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.485G>A	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627683	0.87560	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.01	0.46588	SH2 motif (3);	0.138797	0.49305	N	0.000156	T	0.56877	0.2015	L	0.56769	1.78	0.42777	D	0.993855	B	0.25667	0.131	B	0.18871	0.023	T	0.59984	-0.7351	9	0.66056	D	0.02	.	12.202	0.54331	0.0:0.9156:0.0:0.0844	.	246	Q6ZV89	SH2D5_HUMAN	H	162;246	.	ENSP00000364171:R162H	R	-	2	0	SH2D5	20923225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.417000	0.59822	1.303000	0.44873	0.563000	0.77884	CGC		0.667	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		36	215	0	0	0	0.000814825	0	36	215				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	178	0	0	0	0.000602214	0	4	178				
SLC7A2	6542	broad.mit.edu	37	8	17396408	17396408	+	Intron	SNP	G	G	T	rs372780420		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17396408G>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Silent_p.P25P|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000398090.3_Silent_p.P25P	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCCACCGGTTTGCGACA	0.418																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(73-75)ccG>ccT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						100.0	91.0	94.0					8																	17396408		1837	4087	5924	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396408G>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4419G>T	8.37:g.17396408G>T						SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Silent_p.P25P	p.P25P			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	192	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.75G>T	CCDS34852.1																																																																																				0.418	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		8	684	1	0	0.00010058	0.00010058	0.00173709	8	684				
NHS	4810	broad.mit.edu	37	X	17745520	17745520	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:17745520G>T	ENST00000380060.3	+	6	3569	c.3231G>T	c.(3229-3231)ttG>ttT	p.L1077F	NHS_ENST00000398097.3_Missense_Mutation_p.L921F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1098					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATAATGTCTTGAACAAACCAT	0.413																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3229-3231)ttG>ttT		Nance-Horan syndrome (congenital cataracts and dental anomalies)							192.0	177.0	182.0					X																	17745520		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745520G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3231G>T	X.37:g.17745520G>T	ENSP00000369400:p.Leu1077Phe					NHS_ENST00000398097.3_Missense_Mutation_p.L921F	p.L1077F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	3569	+	Hepatocellular(33;0.183)		1077					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3231G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755600	0.15846	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49432	0.78;0.79	5.88	3.1	0.35709	.	0.496191	0.22945	N	0.053721	T	0.58666	0.2138	M	0.62723	1.935	0.39613	D	0.969907	B;B;B;D	0.89917	0.082;0.082;0.082;1.0	B;B;B;D	0.91635	0.058;0.058;0.058;0.999	T	0.58289	-0.7662	10	0.52906	T	0.07	-8.328	4.1375	0.10178	0.1384:0.1238:0.6063:0.1315	.	1098;919;921;1077	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1077;921;919	ENSP00000369400:L1077F;ENSP00000381170:L921F	ENSP00000369397:L919F	L	+	3	2	NHS	17655441	1.000000	0.71417	0.998000	0.56505	0.331000	0.28603	1.744000	0.38268	0.643000	0.30638	-1.070000	0.02257	TTG		0.413	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		11	631	1	0	1.49906e-05	0.000219431	0.000353665	11	631				
ZCCHC10	54819	broad.mit.edu	37	5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	rs143508297		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000509437.1	-	1	35	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642																																						ENST00000324170.3																			0				skin(1)	1						c.(28-30)Gcc>Acc		zinc finger, CCHC domain containing 10							29.0	29.0	29.0					5																	132362202		2203	4300	6503	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132362202C>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.28G>A	5.37:g.132362202C>T	ENSP00000423276:p.Ala10Thr					ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.A10T	p.A10T	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	94	-			10					Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.28G>A		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919083	0.52546	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170	.	.	.	4.84	4.84	0.62591	.	0.059049	0.64402	D	0.000003	T	0.70159	0.3192	.	.	.	0.31611	N	0.651506	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.73708	0.981;0.956;0.981	T	0.73600	-0.3931	8	0.51188	T	0.08	.	15.1619	0.72791	0.0:1.0:0.0:0.0	.	10;10;10	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	T	10	.	ENSP00000324274:A10T	A	-	1	0	ZCCHC10	132390101	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.062000	0.57492	2.683000	0.91414	0.591000	0.81541	GCC		0.642	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		21	178	0	0	0	0.00047179	0	21	178				
RBM6	10180	broad.mit.edu	37	3	50091792	50091792	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000266022.4	+	8	1916	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R	RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000443081.1_Silent_p.R421R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	553					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R553R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGTGGGCACCGATCTTCCTG	0.378																																						ENST00000443081.1																			1	Substitution - coding silent(1)	p.R553R(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(1261-1263)Cga>Aga		RNA binding motif protein 6							195.0	202.0	200.0					3																	50091792		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50091792C>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1657C>A	3.37:g.50091792C>A						RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000266022.4_Silent_p.R553R|RBM6_ENST00000442092.1_Silent_p.R31R	p.R421R			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	8	2180	+			553					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.1261C>A	CCDS2809.1																																																																																				0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		8	793	1	0	1.58986e-06	0.000673444	4.62318e-05	8	793				
COL4A2	1284	broad.mit.edu	37	13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	COL4A1_ENST00000375820.4_5'Flank|COL4A1_ENST00000543140.1_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGAGACCAGCGCGCGGT	0.662																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(13-15)Cag>Aag		collagen, type IV, alpha 2							25.0	32.0	29.0					13																	110960263		1977	4142	6119	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:110960263C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.13C>A	13.37:g.110960263C>A	ENSP00000353654:p.Gln5Lys						p.Q5K	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		2	319	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	5					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.13C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.176863	0.06380	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.90676	-2.71;-2.69	3.37	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.62388	-0.6865	9	0.02654	T	1	.	7.2031	0.25891	0.2652:0.7348:0.0:0.0	.	5	P08572	CO4A2_HUMAN	K	5	ENSP00000383027:Q5K;ENSP00000353654:Q5K	ENSP00000257309:Q5K	Q	+	1	0	COL4A2	109758264	0.001000	0.12720	0.007000	0.13788	0.117000	0.20001	0.298000	0.19120	1.882000	0.54519	0.561000	0.74099	CAG		0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		30	218	1	0	6.50621e-10	0.000491102	2.48029e-08	30	218				
GJA8	2703	broad.mit.edu	37	1	147381108	147381108	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000369235.1	+	1	1026	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000240986.4_Silent_p.A342A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1024-1026)gcC>gcT		gap junction protein, alpha 8, 50kDa							33.0	32.0	32.0					1																	147381108		2202	4299	6501	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381108C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1026C>T	1.37:g.147381108C>T						GJA8_ENST00000369235.1_Silent_p.A342A	p.A342A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1079	+	all_hematologic(923;0.0276)		342					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1026C>T	CCDS30834.1																																																																																				0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		3	27	0	0	0	6.4e-05	0	3	27				
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47.0	50.0	49.0					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	470	0	0	0	8.12818e-05	0	6	470				
DACH1	1602	broad.mit.edu	37	13	72204773	72204773	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000359684.2	-	3	1046	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000305425.4_Silent_p.I349I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	349	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCTAATTTGATTTTTTTCA	0.408																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1045-1047)atC>atA		dachshund homolog 1 (Drosophila)							196.0	176.0	182.0					13																	72204773		1840	4092	5932	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204773G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1047C>A	13.37:g.72204773G>T						DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000359684.2_Silent_p.I349I|DACH1_ENST00000354591.4_Intron	p.I349I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1469	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	347			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1047C>A																																																																																					0.408	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		15	813	1	0	3.52763e-06	0.000566183	9.80211e-05	15	813				
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1960-1962)Cgc>Tgc		neurexin 3		C	CYS/ARG	0,4406		0,0,2203	136.0	116.0	122.0		1960	6.0	1.0	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434626C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	14.37:g.79434626C>T	ENSP00000451648:p.Arg654Cys					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2451	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1960C>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		43	299	0	0	0	0.000781405	0	43	299				
SHROOM2	357	broad.mit.edu	37	X	9864330	9864330	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2380-2382)ttT>ttC		shroom family member 2							46.0	46.0	46.0					X																	9864330		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864330T>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2382T>C	X.37:g.9864330T>C							p.F794F	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2472	+		Hepatocellular(5;0.000888)	794					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2382T>C	CCDS14135.1																																																																																				0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		36	222	0	0	0	0.000191422	0	36	222				
TCEB1	6921	broad.mit.edu	37	8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000522337.1	-	5	531	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATACTTTCGATAGCACATG	0.398																																						ENST00000518127.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(211-213)tCg>tAg		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							99.0	82.0	88.0					8																	74858992		2203	4300	6503	SO:0001587	stop_gained	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74858992G>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.212C>A	8.37:g.74858992G>T	ENSP00000429906:p.Ser71*					TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Nonsense_Mutation_p.S71*	p.S71*	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	304	-	Breast(64;0.0311)		71					E5RGD9|Q567Q6	Nonsense_Mutation	SNP	ENST00000522337.1	37	c.212C>A	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	37	6.088852	0.97271	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	.	.	.	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.4048	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	X	71;55;71;71;71;71;71;71	.	ENSP00000284811:S71X	S	-	2	0	TCEB1	75021546	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.103000	0.94232	2.669000	0.90835	0.591000	0.81541	TCG		0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		7	269	1	0	0.000274275	0.000274275	0.0039602	7	269				
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9793-9795)Ggg>Tgg		filaggrin							263.0	266.0	265.0					1																	152277569		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277569C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9793G>T	1.37:g.152277569C>A	ENSP00000357789:p.Gly3265Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3265W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9828	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3265			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9793G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090737	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01145	5.27	2.33	2.33	0.28932	.	.	.	.	.	T	0.02193	0.0068	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44528	-0.9322	9	0.72032	D	0.01	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	W	3265;203	ENSP00000357789:G3265W	ENSP00000357786:G203W	G	-	1	0	FLG	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	1429	1	0	0.000673444	0.000673444	0.00785517	11	1429				
USP14	9097	broad.mit.edu	37	18	204644	204644	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:204644C>A	ENST00000261601.7	+	13	1207	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	USP14_ENST00000400266.3_Silent_p.S361S|USP14_ENST00000383589.2_Silent_p.S326S|USP14_ENST00000582707.1_Silent_p.S337S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	372	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTTCGATCCAAATTCAAGG	0.328																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(1114-1116)tcC>tcA		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							85.0	87.0	86.0					18																	204644		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:204644C>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1116C>A	18.37:g.204644C>A						USP14_ENST00000582707.1_Silent_p.S337S|USP14_ENST00000400266.3_Silent_p.S361S|USP14_ENST00000383589.2_Silent_p.S326S	p.S372S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			13	1207	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	372					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.1116C>A	CCDS32780.1																																																																																				0.328	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		10	545	1	0	0.00010058	0.00010058	0.00173709	10	545				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	94	1	0	1.024e-07	0.000602214	3.53704e-06	4	94				
ARID4A	5926	broad.mit.edu	37	14	58814545	58814545	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58814545C>A	ENST00000355431.3	+	15	1726	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000348476.3_Silent_p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	451					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAAATATCGATTCAAACA	0.313																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1351-1353)atC>atA		AT rich interactive domain 4A (RBP1-like)							75.0	79.0	78.0					14																	58814545		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814545C>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1353C>A	14.37:g.58814545C>A						ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000348476.3_Silent_p.I451I	p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			15	1726	+			451					Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.1353C>A	CCDS9732.1																																																																																				0.313	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		10	422	1	0	1.5842e-08	0.000151284	5.6922e-07	10	422				
NCOA6	23054	broad.mit.edu	37	20	33329665	33329665	+	Silent	SNP	C	C	A	rs201911903		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:33329665C>A	ENST00000374796.2	-	12	6965	c.4395G>T	c.(4393-4395)tcG>tcT	p.S1465S	NCOA6_ENST00000359003.2_Silent_p.S1465S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1465					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTTAGGATCCGAAGGCTGCC	0.443																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4393-4395)tcG>tcT		nuclear receptor coactivator 6							106.0	98.0	101.0					20																	33329665		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329665C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4395G>T	20.37:g.33329665C>A						NCOA6_ENST00000359003.2_Silent_p.S1465S	p.S1465S			Q14686	NCOA6_HUMAN			12	6965	-			1465					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.4395G>T	CCDS13241.1																																																																																				0.443	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	566	1	0	0.000673444	0.000673444	0.00785517	8	566				
S100A7	6278	broad.mit.edu	37	1	153431438	153431438	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153431438G>T	ENST00000368723.3	-	2	162	c.52C>A	c.(52-54)Cac>Aac	p.H18N	S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	18	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(52-54)Cac>Aac		S100 calcium binding protein A7							275.0	234.0	248.0					1																	153431438		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153431438G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.52C>A	1.37:g.153431438G>T	ENSP00000357712:p.His18Asn					S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	162	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		18			EF-hand 1.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.52C>A	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	15.36	2.809499	0.50421	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.15256	2.44;2.44	2.1	1.13	0.20643	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.17109	0.0411	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04855	-1.0922	9	0.72032	D	0.01	.	5.0686	0.14594	0.1839:0.0:0.8161:0.0	.	18	P31151	S10A7_HUMAN	N	18	ENSP00000357712:H18N;ENSP00000357711:H18N	ENSP00000357711:H18N	H	-	1	0	S100A7	151698062	0.007000	0.16637	0.003000	0.11579	0.749000	0.42624	0.739000	0.26173	0.441000	0.26529	0.194000	0.17425	CAC		0.438	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		11	562	1	0	0.000422831	0.000422831	0.00556767	11	562				
ANK3	288	broad.mit.edu	37	10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.2	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4115	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCCACTGAAAAATTCAG	0.313																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(12343-12345)tCa>tAa		ankyrin 3, node of Ranvier (ankyrin G)							72.0	76.0	75.0					10																	61824022		2203	4298	6501	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61824022G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12344C>A	10.37:g.61824022G>T	ENSP00000280772:p.Ser4115*					ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	p.S4115*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			39	12535	-			4115			Death.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.12344C>A	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.037921|6.037921	0.97226|0.97226	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.34245	.|N	.|0.004129	T|.	0.53334|.	0.1790|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42816|.	-0.9429|.	4|.	.|0.07813	.|T	.|0.8	.|.	19.1741|19.1741	0.93597|0.93597	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	9;62|4115;1496;94;636;636;1503;1482;737	.|.	.|ENSP00000280772:S4115X	Q|S	-|-	1|2	0|0	ANK3|ANK3	61494028|61494028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.863000|7.863000	0.87023|0.87023	2.530000|2.530000	0.85305|0.85305	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.313	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	398	1	0	0.000442599	0.000442599	0.00556767	9	398				
FOLH1	2346	broad.mit.edu	37	11	49208253	49208253	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000256999.2	-	5	842	c.582C>A	c.(580-582)atC>atA	p.I194I	FOLH1_ENST00000340334.7_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	194				I -> V (in Ref. 9; AAZ66619). {ECO:0000305}.	folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAGAGCAATTGATTTTCATGT	0.363																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(535-537)atC>atA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						75.0	81.0	79.0					11																	49208253		2201	4298	6499	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208253G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.582C>A	11.37:g.49208253G>T						FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000256999.2_Silent_p.I194I|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.I179I	p.I179I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			6	905	-			194					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.537C>A	CCDS7946.1																																																																																				0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		10	602	1	0	5.50884e-06	0.00010058	0.000142319	10	602				
EDA2R	60401	broad.mit.edu	37	X	65819559	65819559	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577																																						ENST00000374719.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(661-663)Gac>Aac		ectodysplasin A2 receptor							78.0	50.0	60.0					X																	65819559		2203	4300	6503	SO:0001583	missense	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819559C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.661G>A	X.37:g.65819559C>T	ENSP00000363851:p.Asp221Asn					EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N|EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N	p.D221N	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN			6	717	-			221					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.661G>A	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868958	0.32977	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.84800	-1.82;-1.82;-1.9;-1.82;-1.9	3.45	3.45	0.39498	.	0.596206	0.13903	N	0.354801	T	0.72859	0.3513	L	0.27053	0.805	0.29256	N	0.871661	P;B;B	0.36125	0.538;0.054;0.004	B;B;B	0.26416	0.069;0.004;0.002	T	0.66602	-0.5882	10	0.32370	T	0.25	-5.3956	11.6654	0.51370	0.0:1.0:0.0:0.0	.	97;242;221	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	N	221;221;97;242;221;242	ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N	ENSP00000253392:D242N	D	-	1	0	EDA2R	65736284	0.005000	0.15991	0.832000	0.32986	0.881000	0.50899	0.252000	0.18278	1.573000	0.49748	0.523000	0.50628	GAC		0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		13	99	0	0	0	0.00010058	0	13	99				
SKIV2L2	23517	broad.mit.edu	37	5	54645456	54645456	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:54645456C>A	ENST00000230640.5	+	12	1550	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	SKIV2L2_ENST00000545714.1_Silent_p.S331S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	432	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTGCTTATCCGATGAAGATA	0.313																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1294-1296)tcC>tcA		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							71.0	77.0	75.0					5																	54645456		2203	4300	6503	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54645456C>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1296C>A	5.37:g.54645456C>A						SKIV2L2_ENST00000545714.1_Silent_p.S331S	p.S432S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			12	1550	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	432			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.1296C>A	CCDS3967.1																																																																																				0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			9	643	1	0	0.000442599	0.000442599	0.00556767	9	643				
GRM4	2914	broad.mit.edu	37	6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	763					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGACCATGAGCAGCATGCTG	0.602																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2287-2289)Ctc>Ttc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						116.0	87.0	96.0					6																	34003600		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003600G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2287C>T	6.37:g.34003600G>A	ENSP00000440556:p.Leu763Phe					GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000538487.1_Missense_Mutation_p.L763F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.1_Missense_Mutation_p.L594F|GRM4_ENST00000545715.1_Missense_Mutation_p.L455F	p.L763F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2456	-			763					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2287C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976898	0.74360	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.47	3.6	0.41247	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.989;0.997;0.997;0.959;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	12.6781	0.56906	0.0805:0.0:0.9195:0.0	.	716;594;623;763;630	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	763;647;455;630;594;763;623	ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F	ENSP00000363292:L647F	L	-	1	0	GRM4	34111578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	1.087000	0.41251	0.455000	0.32223	CTC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			18	162	0	0	0	0.000132079	0	18	162				
MPHOSPH10	10199	broad.mit.edu	37	2	71368410	71368410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:71368410G>T	ENST00000244230.2	+	7	1709	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	453					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGATGCATATGAATATAAAAA	0.363																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1357-1359)Gaa>Taa		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							166.0	180.0	175.0					2																	71368410		2203	4300	6503	SO:0001587	stop_gained	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368410G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1357G>T	2.37:g.71368410G>T	ENSP00000244230:p.Glu453*						p.E453*	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			7	1709	+			453					A0AVJ8	Nonsense_Mutation	SNP	ENST00000244230.2	37	c.1357G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	42	9.318101	0.99135	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	.	.	.	5.52	5.52	0.82312	.	0.151884	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	17.3088	0.87202	0.0:0.0:1.0:0.0	.	.	.	.	X	453;313	.	ENSP00000244230:E453X	E	+	1	0	MPHOSPH10	71221918	1.000000	0.71417	0.944000	0.38274	0.985000	0.73830	5.629000	0.67798	2.769000	0.95229	0.491000	0.48974	GAA		0.363	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		11	883	1	0	1.5842e-08	0.000151284	5.6922e-07	11	883				
TIMM21	29090	broad.mit.edu	37	18	71816100	71816100	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:71816100G>T	ENST00000169551.6	+	1	355	c.57G>T	c.(55-57)tcG>tcT	p.S19S	FBXO15_ENST00000419743.2_5'Flank|FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Silent_p.S19S	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	19					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											ACAGGTCCTCGGCAAAGCGAT	0.458																																						ENST00000580087.1																			0											c.(55-57)tcG>tcT		translocase of inner mitochondrial membrane 21 homolog (yeast)							169.0	168.0	169.0					18																	71816100		2203	4300	6503	SO:0001819	synonymous_variant	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816100G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.57G>T	18.37:g.71816100G>T						TIMM21_ENST00000169551.6_Silent_p.S19S	p.S19S			Q9BVV7	TI21L_HUMAN			1	343	+			19					Q9P010	Silent	SNP	ENST00000169551.6	37	c.57G>T	CCDS12003.1																																																																																				0.458	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		10	850	1	0	0.000673444	0.000673444	0.00785517	10	850				
HFM1	164045	broad.mit.edu	37	1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	698	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATGTTCAATAAGATGT	0.308																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2092-2094)Gaa>Taa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							119.0	110.0	113.0					1																	91816409		1836	4089	5925	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91816409C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2092G>T	1.37:g.91816409C>A	ENSP00000359454:p.Glu698*					HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR	p.E698*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	18	2190	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	698			Helicase C-terminal.		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.2092G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	40	8.503240	0.98838	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	.	.	.	5.32	4.4	0.53042	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7422	0.77910	0.1376:0.8624:0.0:0.0	.	.	.	.	X	698;377;382	.	ENSP00000359450:E382X	E	-	1	0	HFM1	91588997	1.000000	0.71417	0.986000	0.45419	0.768000	0.43524	7.720000	0.84759	1.355000	0.45865	0.460000	0.39030	GAA		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		10	440	1	0	4.36969e-10	0.000151284	1.67603e-08	10	440				
RIC1	57589	broad.mit.edu	37	9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517																																						ENST00000414202.2																			1	Substitution - Missense(1)	p.R688L(1)	lung(1)	breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2299-2301)cGg>cTg		KIAA1432							243.0	220.0	228.0					9																	5763327		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763327G>T																												ENST00000414202.2:c.2300G>T	9.37:g.5763327G>T	ENSP00000416696:p.Arg767Leu					KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L	p.R767L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2491	+		Acute lymphoblastic leukemia(23;0.154)	767						Missense_Mutation	SNP	ENST00000414202.2	37	c.2300G>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794235	0.90453	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	D	0.85507	0.1195	9	0.51188	T	0.08	-19.9006	20.0079	0.97439	0.0:0.0:1.0:0.0	.	651;688;767;767	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	L	767;767;688;688;651	.	ENSP00000251879:R767L	R	+	2	0	KIAA1432	5753327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.726000	0.93360	0.561000	0.74099	CGG		0.517	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			9	835	1	0	0.000274275	0.000274275	0.0039602	9	835				
STAG2	10735	broad.mit.edu	37	X	123200044	123200044	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123200044T>G	ENST00000371160.1	+	22	2406	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTTCAAAGTGGGATTTATT	0.289																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2116-2118)Tgg>Ggg		stromal antigen 2							67.0	68.0	68.0					X																	123200044		2202	4298	6500	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200044T>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2116T>G	X.37:g.123200044T>G	ENSP00000360202:p.Trp706Gly					STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G	p.W706G			Q8N3U4	STAG2_HUMAN			22	2406	+			706	W -> R (in Ref. 5; CAA99732).				B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2116T>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899217	0.52227	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.87456	2.885	0.80722	D	1	B;B	0.30511	0.282;0.185	B;B	0.36244	0.22;0.144	T	0.45483	-0.9258	10	0.40728	T	0.16	-21.7395	15.0823	0.72125	0.0:0.0:0.0:1.0	.	706;706	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	G	706;637;706;706;706;706	ENSP00000218089:W706G;ENSP00000346555:W637G;ENSP00000360202:W706G;ENSP00000360199:W706G;ENSP00000360187:W706G;ENSP00000360186:W706G	ENSP00000218089:W706G	W	+	1	0	STAG2	123027725	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.944000	0.56390	0.486000	0.48141	TGG		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		14	550	0	0	0	9.7654e-05	0	14	550				
TRIM42	287015	broad.mit.edu	37	3	140401487	140401487	+	Silent	SNP	G	G	A	rs574747515		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCAGAAGCACGCCGAGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19979	0.0		0.0	False		,,,				2504	0.0					ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(523-525)aaG>aaA		tripartite motif containing 42							101.0	92.0	95.0					3																	140401487		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401487G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.525G>A	3.37:g.140401487G>A							p.K175K	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	716	+			175					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.525G>A	CCDS3113.1																																																																																				0.607	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		43	349	0	0	0	0.000437636	0	43	349				
DCC	1630	broad.mit.edu	37	18	50961541	50961541	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:50961541C>A	ENST00000442544.2	+	22	3807	c.3191C>A	c.(3190-3192)cCa>cAa	p.P1064Q	DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1064					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTATTGGCCAGTTGATACT	0.299																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3190-3192)cCa>cAa		deleted in colorectal carcinoma							218.0	220.0	219.0					18																	50961541		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50961541C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3191C>A	18.37:g.50961541C>A	ENSP00000389140:p.Pro1064Gln					DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	p.P1064Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	22	3807	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1064						Missense_Mutation	SNP	ENST00000442544.2	37	c.3191C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974234	0.34848	.	.	ENSG00000187323	ENST00000442544	T	0.51817	0.69	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	T	0.50905	0.1643	L	0.53249	1.67	0.42889	D	0.994199	P	0.45044	0.849	P	0.47206	0.541	T	0.43861	-0.9365	10	0.27082	T	0.32	-5.7624	16.0065	0.80367	0.0:1.0:0.0:0.0	.	1064	P43146	DCC_HUMAN	Q	1064	ENSP00000389140:P1064Q	ENSP00000389140:P1064Q	P	+	2	0	DCC	49215539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.011000	0.64011	2.593000	0.87608	0.655000	0.94253	CCA		0.299	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		11	946	1	0	9.70103e-10	0.000673444	3.65366e-08	11	946				
RHOT1	55288	broad.mit.edu	37	17	30521075	30521075	+	Missense_Mutation	SNP	G	G	T	rs116192944		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:30521075G>T	ENST00000333942.6	+	11	1057	c.818G>T	c.(817-819)cGa>cTa	p.R273L	RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000358365.3_Missense_Mutation_p.R273L|RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTGCTTCGACGATTTGGTTAT	0.333																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(817-819)cGa>cTa		ras homolog family member T1							475.0	464.0	468.0					17																	30521075		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30521075G>T	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.818G>T	17.37:g.30521075G>T	ENSP00000334724:p.Arg273Leu					RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000333942.6_Missense_Mutation_p.R273L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L	p.R273L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			11	1045	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	273					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.818G>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613425	0.66672	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.42513	0.97;0.97;0.97	5.97	5.97	0.96955	EF hand associated, type-2 (1);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.987;0.984	D;D;P;P	0.74348	0.917;0.983;0.851;0.875	T	0.73665	-0.3911	10	0.87932	D	0	-5.1279	20.4135	0.99023	0.0:0.0:1.0:0.0	.	273;273;273;273	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	L	273	ENSP00000351132:R273L;ENSP00000378184:R273L;ENSP00000334724:R273L	ENSP00000334724:R273L	R	+	2	0	RHOT1	27545188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.022000	0.88759	2.835000	0.97688	0.591000	0.81541	CGA		0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		13	1521	1	0	3.86212e-05	0.000673444	0.000778902	13	1521				
MGA	23269	broad.mit.edu	37	15	42019576	42019576	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:42019576G>T	ENST00000570161.1	+	9	3629	c.3629G>T	c.(3628-3630)cGg>cTg	p.R1210L	MGA_ENST00000545763.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L|MGA_ENST00000219905.7_Missense_Mutation_p.R1210L|MGA_ENST00000389936.4_Missense_Mutation_p.R1210L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATCTCCACGGTCATATACT	0.398																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3628-3630)cGg>cTg		MGA, MAX dimerization protein							153.0	146.0	148.0					15																	42019576		1856	4093	5949	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42019576G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3629G>T	15.37:g.42019576G>T	ENSP00000457035:p.Arg1210Leu					MGA_ENST00000389936.4_Missense_Mutation_p.R1210L|MGA_ENST00000570161.1_Missense_Mutation_p.R1210L|MGA_ENST00000545763.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L	p.R1210L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	10	3810	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1210					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3629G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224774	0.58668	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86865	-2.15;-2.18;-2.09	5.98	5.07	0.68467	.	0.428361	0.20611	N	0.088972	D	0.88496	0.6452	N	0.24115	0.695	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.947	T	0.82168	-0.0591	10	0.87932	D	0	.	13.2741	0.60178	0.0727:0.0:0.9273:0.0	.	1210;1210	F5H7K2;E7ENI0	.;.	L	1210	ENSP00000219905:R1210L;ENSP00000374586:R1210L;ENSP00000442467:R1210L	ENSP00000219905:R1210L	R	+	2	0	MGA	39806868	0.916000	0.31088	0.010000	0.14722	0.361000	0.29550	2.809000	0.47971	1.541000	0.49316	0.655000	0.94253	CGG		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	658	1	0	0.000442599	0.000442599	0.00556767	9	658				
ANXA11	311	broad.mit.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652																																						ENST00000438331.1																			1	Substitution - Missense(1)	p.N41I(1)	ovary(1)	endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(121-123)aAc>aGc		annexin A11							73.0	65.0	67.0					10																	81930605		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930605T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.122A>G	10.37:g.81930605T>C	ENSP00000398610:p.Asn41Ser					ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S	p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	604	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		41					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.122A>G	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921685	0.33908	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02280	4.55;4.55;4.55;4.55;4.55;4.55;4.36	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.06735	0.0172	N	0.22421	0.69	0.45066	D	0.998081	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.935;0.935	T	0.52124	-0.8617	10	0.08381	T	0.77	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S	ENSP00000265447:N41S	N	-	2	0	ANXA11	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		17	247	0	0	0	0.000132079	0	17	247				
FAM53A	152877	broad.mit.edu	37	4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(796-798)aGt>aCt		family with sequence similarity 53, member A							27.0	24.0	25.0					4																	1656790		2202	4300	6502	SO:0001583	missense	152877					nucleus		g.chr4:1656790C>G	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.797G>C	4.37:g.1656790C>G	ENSP00000310057:p.Ser266Thr					FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T	p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	989	-		all_epithelial(65;0.206)|Breast(71;0.212)	266					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.797G>C	CCDS33939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.723|7.723	0.697617|0.697617	0.15106|0.15106	.|.	.|.	ENSG00000174137|ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	4.51|4.51	-5.78|-5.78	0.02362|0.02362	.|.	0.662582|.	0.12351|.	N|.	0.476531|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.34757|.	0.372;0.467|.	B;B|.	0.32677|.	0.15;0.105|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.66056|.	D|.	0.02|.	-26.8945|-26.8945	4.7646|4.7646	0.13127|0.13127	0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649	.|.	266;266|.	Q6NSI3;C9JYQ7|.	FA53A_HUMAN;.|.	T|L	266|116	ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|.	ENSP00000310057:S266T|.	S|V	-|-	2|1	0|0	FAM53A|FAM53A	1626587|1626587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	0.666000|0.666000	0.25097|0.25097	-1.332000|-1.332000	0.02249|0.02249	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.677	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		17	119	0	0	0	0.000566183	0	17	119				
RNF213	57674	broad.mit.edu	37	17	78338344	78338344	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2027L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3954					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCTTCTTACTAGACAAGG	0.582																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11860-11862)ttA>ttG		ring finger protein 213							70.0	66.0	67.0					17																	78338344		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78338344A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11862A>G	17.37:g.78338344A>G						CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L	p.L3954L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		42	12005	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.11862A>G	CCDS58606.1																																																																																				0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		17	188	0	0	0	9.7654e-05	0	17	188				
TTI2	80185	broad.mit.edu	37	8	33369577	33369577	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:33369577G>A	ENST00000431156.2	-	2	1173	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TTI2_ENST00000520636.1_Silent_p.C185C|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Silent_p.C185C|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	185																	CCACAGAACCGCATTCAGTAA	0.483																																						ENST00000431156.2																			0											c.(553-555)tgC>tgT		TELO2 interacting protein 2							199.0	201.0	200.0					8																	33369577		2203	4300	6503	SO:0001819	synonymous_variant	80185						binding	g.chr8:33369577G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.555C>T	8.37:g.33369577G>A						TTI2_ENST00000360742.5_Silent_p.C185C|TTI2_ENST00000520636.1_Silent_p.C185C	p.C185C	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			2	1173	-			185					D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	c.555C>T	CCDS6090.1																																																																																				0.483	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		8	951	0	0	0	0.000274275	0	8	951				
ARR3	407	broad.mit.edu	37	X	69497974	69497974	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000307959.8	+	11	804	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000374495.3_Missense_Mutation_p.F251L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	251					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGACTGTGTTCATTCAGGAAT	0.512																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(751-753)ttC>ttA		arrestin 3, retinal (X-arrestin)							95.0	70.0	78.0					X																	69497974		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69497974C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.753C>A	X.37:g.69497974C>A	ENSP00000311538:p.Phe251Leu					ARR3_ENST00000307959.8_Missense_Mutation_p.F251L	p.F251L			P36575	ARRC_HUMAN			11	851	+			251					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.753C>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423118	0.43020	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16196	2.36;2.36	4.45	2.62	0.31277	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.463590	0.25622	N	0.029404	T	0.07279	0.0184	N	0.04162	-0.26	0.33290	D	0.563337	P;B	0.38280	0.625;0.001	B;B	0.34931	0.192;0.002	T	0.23547	-1.0185	10	0.44086	T	0.13	.	9.4817	0.38904	0.0:0.8173:0.0:0.1827	.	251;251	P36575;P36575-2	ARRC_HUMAN;.	L	251	ENSP00000363619:F251L;ENSP00000311538:F251L	ENSP00000311538:F251L	F	+	3	2	ARR3	69414699	0.664000	0.27457	0.266000	0.24541	0.988000	0.76386	1.268000	0.33062	0.260000	0.21731	0.513000	0.50165	TTC		0.512	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		8	348	1	0	0.000274275	0.000274275	0.0039602	8	348				
MMGT1	93380	broad.mit.edu	37	X	135049610	135049610	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318																																						ENST00000305963.2																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(175-177)Ggt>Tgt		membrane magnesium transporter 1							131.0	124.0	126.0					X																	135049610		2203	4300	6503	SO:0001583	missense	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135049610C>A	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.175G>T	X.37:g.135049610C>A	ENSP00000306220:p.Gly59Cys					MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	p.G59C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN			3	562	-			59					B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	c.175G>T	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545456	0.86022	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86167	0.1597	9	0.87932	D	0	.	16.9176	0.86155	0.0:1.0:0.0:0.0	.	124;59	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	C	59;124	.	ENSP00000306220:G59C	G	-	1	0	MMGT1	134877276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.289000	0.77006	0.600000	0.82982	GGT		0.318	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		13	880	1	0	0.000151284	0.000151284	0.00252221	13	880				
OR51A4	401666	broad.mit.edu	37	11	4967898	4967898	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:4967898G>T	ENST00000380373.2	-	1	458	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTATTTGGGCAACTCTG	0.428																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(433-435)Caa>Aaa		olfactory receptor, family 51, subfamily A, member 4							216.0	220.0	218.0					11																	4967898		2191	4269	6460	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967898G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.433C>A	11.37:g.4967898G>T	ENSP00000369731:p.Gln145Lys					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Q145K	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	458	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	145						Missense_Mutation	SNP	ENST00000380373.2	37	c.433C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	2.048	-0.418366	0.04766	.	.	ENSG00000205497	ENST00000380373	T	0.71341	-0.56	3.58	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39384	0.1076	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	0.02654	T	1	.	11.0806	0.48057	0.0:0.0:0.4766:0.5234	.	145	Q8NGJ6	O51A4_HUMAN	K	145	ENSP00000369731:Q145K	ENSP00000369731:Q145K	Q	-	1	0	OR51A4	4924474	0.000000	0.05858	0.013000	0.15412	0.779000	0.44077	-0.888000	0.04148	0.227000	0.20999	0.580000	0.79431	CAA		0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		16	2011	1	0	2.27111e-07	0.00010058	7.55265e-06	16	2011				
TRPV6	55503	broad.mit.edu	37	7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1738-1740)Gac>Tac		transient receptor potential cation channel, subfamily V, member 6							147.0	123.0	131.0					7																	142571251		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571251C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1738G>T	7.37:g.142571251C>A	ENSP00000352358:p.Asp580Tyr						p.D580Y	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			13	1983	-	Melanoma(164;0.059)		580					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1738G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048747	0.93740	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.92647	-3.08	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96396	0.9293	10	0.54805	T	0.06	-37.5871	18.5442	0.91040	0.0:1.0:0.0:0.0	.	580	Q9H1D0	TRPV6_HUMAN	Y	580;412	ENSP00000352358:D580Y	ENSP00000310825:D412Y	D	-	1	0	TRPV6	142281373	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.741000	0.84997	2.613000	0.88420	0.655000	0.94253	GAC		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		8	421	1	0	0.000157383	0.000157383	0.00254253	8	421				
TPP2	7174	broad.mit.edu	37	13	103328763	103328763	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103328763C>A	ENST00000376065.4	+	28	3694	c.3658C>A	c.(3658-3660)Caa>Aaa	p.Q1220K	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.Q1233K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1220					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTGTATTCAAGTAAGTGA	0.308																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(3697-3699)Caa>Aaa		tripeptidyl peptidase II							55.0	58.0	57.0					13																	103328763		2198	4289	6487	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103328763C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3658C>A	13.37:g.103328763C>A	ENSP00000365233:p.Gln1220Lys					TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.Q1220K	p.Q1233K			P29144	TPP2_HUMAN			29	3713	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1220					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3697C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183587	0.57800	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.55481	1.735	0.80722	D	1	P	0.44006	0.824	B	0.36092	0.217	T	0.50849	-0.8779	9	0.12430	T	0.62	.	20.0563	0.97651	0.0:1.0:0.0:0.0	.	1220	P29144	TPP2_HUMAN	K	1220;1233	.	ENSP00000365220:Q1233K	Q	+	1	0	TPP2	102126764	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.140000	0.77322	2.746000	0.94184	0.563000	0.77884	CAA		0.308	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			13	745	1	0	2.31682e-05	0.000308642	0.000501203	13	745				
MACF1	23499	broad.mit.edu	37	1	39907708	39907708	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39907708C>A	ENST00000372915.3	+	74	18541	c.18454C>A	c.(18454-18456)Cag>Aag	p.Q6152K	MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000564288.1_Missense_Mutation_p.Q6253K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6152					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTAAAGATCAGTTAAATGA	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18757-18759)Cag>Aag		microtubule-actin crosslinking factor 1							105.0	99.0	101.0					1																	39907708		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907708C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18454C>A	1.37:g.39907708C>A	ENSP00000362006:p.Gln6152Lys					MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K|MACF1_ENST00000372915.3_Missense_Mutation_p.Q6152K	p.Q6253K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		75	19534	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6262					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.18757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762666|4.762666	0.89932|0.89932	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.81861|.	0.4912|.	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.995;1.0|.	D;D|.	0.91635|.	0.983;0.999|.	T|.	0.81797|.	-0.0768|.	10|.	0.87932|.	D|.	0|.	.|.	19.6758|19.6758	0.95932|0.95932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6152;4194|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	K|X	4194;6152;4194;4194;4064;4696|3197	ENSP00000439537:Q4194K;ENSP00000362006:Q6152K;ENSP00000354573:Q4194K;ENSP00000313438:Q4194K;ENSP00000444364:Q4064K;ENSP00000289893:Q4696K|.	ENSP00000289893:Q4696K|.	Q|S	+|+	1|2	0|0	MACF1|MACF1	39680295|39680295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	482	1	0	5.50884e-06	0.00010058	0.000142319	9	482				
SF3B3	23450	broad.mit.edu	37	16	70564776	70564776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:70564776G>T	ENST00000302516.5	+	4	737	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	176					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTAGATGTCGGATTTGAAAA	0.413																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(526-528)Gga>Tga		splicing factor 3b, subunit 3, 130kDa							220.0	212.0	214.0					16																	70564776		2198	4300	6498	SO:0001587	stop_gained	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70564776G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.526G>T	16.37:g.70564776G>T	ENSP00000305790:p.Gly176*						p.G176*	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			4	737	+		Ovarian(137;0.0694)	176					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Nonsense_Mutation	SNP	ENST00000302516.5	37	c.526G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579056	0.98371	.	.	ENSG00000189091	ENST00000302516;ENST00000310750	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.521	0.95184	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000305790:G176X	G	+	1	0	SF3B3	69122277	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.859000	0.99545	2.615000	0.88500	0.579000	0.79373	GGA		0.413	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		10	905	1	0	6.40141e-05	6.40141e-05	0.00117365	10	905				
DMXL2	23312	broad.mit.edu	37	15	51763499	51763499	+	Missense_Mutation	SNP	G	G	T	rs372032462		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51763499G>T	ENST00000251076.5	-	29	7597	c.7310C>A	c.(7309-7311)cCg>cAg	p.P2437Q	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2437						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCAGGCACCGGTGGTGGGGT	0.443																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7309-7311)cCg>cAg		Dmx-like 2							188.0	182.0	184.0					15																	51763499		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51763499G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7310C>A	15.37:g.51763499G>T	ENSP00000251076:p.Pro2437Gln					DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q	p.P2437Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	29	7597	-			2437					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7310C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563561	0.65651	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.22945	2.07;2.07;1.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.43152	1.355	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.666	D;D;D;B	0.91635	0.991;0.997;0.999;0.269	T	0.05402	-1.0887	10	0.27785	T	0.31	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	2438;1801;2437;2438	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2437;2438;1801	ENSP00000251076:P2437Q;ENSP00000441858:P2438Q;ENSP00000400855:P1801Q	ENSP00000251076:P2437Q	P	-	2	0	DMXL2	49550791	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	8.985000	0.93487	2.758000	0.94735	0.561000	0.74099	CCG		0.443	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		9	772	1	0	3.86212e-05	0.000673444	0.000778902	9	772				
THAP1	55145	broad.mit.edu	37	8	42693251	42693251	+	Missense_Mutation	SNP	C	C	T	rs138918468		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:42693251C>T	ENST00000254250.3	-	3	726	c.496G>A	c.(496-498)Gca>Aca	p.A166T	THAP1_ENST00000345117.2_3'UTR|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	166			A -> T (in DYT6). {ECO:0000269|PubMed:20083799}.		cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTGCTGTGCGGTCTTGAGC	0.443																																						ENST00000254250.3																			0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(496-498)Gca>Aca		THAP domain containing, apoptosis associated protein 1		C	THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	143.0	134.0	137.0		496,	5.5	0.9	8	dbSNP_134	137	0,8600		0,0,4300	no	missense,utr-3	THAP1	NM_018105.2,NM_199003.1	58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,	166/214,	42693251	1,13005	2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693251C>T	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.496G>A	8.37:g.42693251C>T	ENSP00000254250:p.Ala166Thr					THAP1_ENST00000345117.2_3'UTR	p.A166T	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	726	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	166					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.496G>A	CCDS6136.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522348	0.44866	2.27E-4	0.0	ENSG00000131931	ENST00000254250	T	0.78126	-1.15	5.52	5.52	0.82312	.	0.172283	0.52532	D	0.000063	T	0.61702	0.2368	L	0.27053	0.805	0.80722	D	1	P	0.39181	0.663	B	0.20184	0.028	T	0.62937	-0.6748	10	0.13108	T	0.6	-24.4747	19.7971	0.96490	0.0:1.0:0.0:0.0	.	166	Q9NVV9	THAP1_HUMAN	T	166	ENSP00000254250:A166T	ENSP00000254250:A166T	A	-	1	0	THAP1	42812408	0.985000	0.35326	0.902000	0.35471	0.978000	0.69477	3.052000	0.49893	2.757000	0.94681	0.585000	0.79938	GCA		0.443	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		9	1026	0	0	0	0.000442599	0	9	1026				
MYO1D	4642	broad.mit.edu	37	17	31039082	31039082	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:31039082C>A	ENST00000318217.5	-	16	2349	c.2045G>T	c.(2044-2046)cGa>cTa	p.R682L	MYO1D_ENST00000394649.4_Missense_Mutation_p.R594L|MYO1D_ENST00000579584.1_Missense_Mutation_p.R682L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	682	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCGGGGTGTTCGAATGAAAAT	0.383																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2044-2046)cGa>cTa		myosin ID							212.0	207.0	208.0					17																	31039082		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31039082C>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2045G>T	17.37:g.31039082C>A	ENSP00000324527:p.Arg682Leu					MYO1D_ENST00000579584.1_Missense_Mutation_p.R682L|MYO1D_ENST00000394649.4_Missense_Mutation_p.R594L	p.R682L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		16	2349	-			682			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2045G>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104240	0.94245	.	.	ENSG00000176658	ENST00000318217	T	0.74632	-0.86	5.09	5.09	0.68999	Myosin head, motor domain (2);	0.000000	0.35378	U	0.003254	D	0.91352	0.7272	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94179	0.7430	10	0.87932	D	0	.	16.0416	0.80687	0.0:1.0:0.0:0.0	.	593;682	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	682	ENSP00000324527:R682L	ENSP00000324527:R682L	R	-	2	0	MYO1D	28063195	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.593000	0.82686	2.646000	0.89796	0.655000	0.94253	CGA		0.383	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			12	807	1	0	0.000219431	0.000219431	0.00342116	12	807				
EIF4G2	1982	broad.mit.edu	37	11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCATGAACGGTCCCTCCAG	0.438																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1063-1065)cCg>cAg		eukaryotic translation initiation factor 4 gamma, 2							139.0	136.0	137.0					11																	10823915		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823915G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1064C>A	11.37:g.10823915G>T	ENSP00000433664:p.Pro355Gln					EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q	p.P355Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1574	-			355						Missense_Mutation	SNP	ENST00000526148.1	37	c.1064C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564900	0.65651	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.22743	2.27;2.27;2.27;2.25;1.94	5.77	5.77	0.91146	.	0.096982	0.64402	D	0.000001	T	0.22627	0.0546	L	0.36672	1.1	0.35089	D	0.764105	P;P;P	0.43578	0.662;0.532;0.811	B;B;B	0.40134	0.32;0.171;0.119	T	0.02668	-1.1126	9	0.51188	T	0.08	-4.9893	20.3626	0.98863	0.0:0.0:1.0:0.0	.	355;355;428	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	Q	355;355;355;355;428;355	ENSP00000433664:P355Q;ENSP00000433371:P355Q;ENSP00000340281:P355Q;ENSP00000379778:P355Q;ENSP00000431583:P355Q	ENSP00000340281:P355Q	P	-	2	0	EIF4G2	10780491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.313000	0.72844	2.885000	0.99019	0.655000	0.94253	CCG		0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		9	767	1	0	6.40141e-05	6.40141e-05	0.00117365	9	767				
BTRC	8945	broad.mit.edu	37	10	103292106	103292106	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000408038.2_Silent_p.R263R|BTRC_ENST00000393441.4_Silent_p.R258R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AATTCACTGCCGAAGTGAAAC	0.398																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(895-897)Cga>Aga		beta-transducin repeat containing E3 ubiquitin protein ligase							147.0	149.0	148.0					10																	103292106		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292106C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.895C>A	10.37:g.103292106C>A						BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	p.R299R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	8	1013	+		Colorectal(252;0.234)	299					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.895C>A	CCDS7512.1																																																																																				0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		16	584	1	0	0.000566183	0.000566183	0.00706542	16	584				
NUFIP2	57532	broad.mit.edu	37	17	27614185	27614185	+	Nonsense_Mutation	SNP	G	G	T	rs147846044		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:27614185G>T	ENST00000225388.4	-	2	885	c.827C>A	c.(826-828)tCg>tAg	p.S276*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	276						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AATGGGCTTCGAACCATCTAC	0.438																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(826-828)tCg>tAg		nuclear fragile X mental retardation protein interacting protein 2							128.0	127.0	127.0					17																	27614185		2203	4300	6503	SO:0001587	stop_gained	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614185G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.827C>A	17.37:g.27614185G>T	ENSP00000225388:p.Ser276*					NUFIP2_ENST00000579665.1_Intron	p.S276*	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	885	-			276					A1L3A6|Q9P2M5	Nonsense_Mutation	SNP	ENST00000225388.4	37	c.827C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211356	0.79240	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.275258	0.31784	N	0.007073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-16.4165	10.4929	0.44760	0.0688:0.1344:0.7967:0.0	.	.	.	.	X	276	.	ENSP00000225388:S276X	S	-	2	0	NUFIP2	24638311	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	3.846000	0.55888	2.941000	0.99782	0.655000	0.94253	TCG		0.438	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	680	1	0	0.000673444	0.000673444	0.00785517	9	680				
AGTPBP1	23287	broad.mit.edu	37	9	88200500	88200500	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:88200500C>A	ENST00000357081.3	-	23	3187	c.3043G>T	c.(3043-3045)Gat>Tat	p.D1015Y	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1015					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCATGATAATCACAATAAACC	0.313																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3043-3045)Gat>Tat		ATP/GTP binding protein 1							103.0	92.0	96.0					9																	88200500		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88200500C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3043G>T	9.37:g.88200500C>A	ENSP00000349592:p.Asp1015Tyr					AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y|AGTPBP1_ENST00000432218.1_Intron	p.D1015Y			Q9UPW5	CBPC1_HUMAN			23	3187	-			1015					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3043G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.052361	0.75960	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.16743	2.32;2.32;2.32	5.42	4.51	0.55191	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71437	-0.4593	10	0.87932	D	0	-28.4007	14.5389	0.67980	0.0:0.9278:0.0:0.0722	.	1027;1015;975	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	Y	1015;975;1027	ENSP00000349592:D1015Y;ENSP00000365251:D975Y;ENSP00000365277:D1027Y	ENSP00000349592:D1015Y	D	-	1	0	AGTPBP1	87390320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.960000	0.70348	2.530000	0.85305	0.591000	0.81541	GAT		0.313	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		11	469	1	0	3.07112e-06	6.40141e-05	8.57171e-05	11	469				
MYOF	26509	broad.mit.edu	37	10	95115479	95115479	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:95115479G>T	ENST00000359263.4	-	31	3308	c.3309C>A	c.(3307-3309)acC>acA	p.T1103T	MYOF_ENST00000371502.4_Silent_p.T1103T|MYOF_ENST00000358334.5_Silent_p.T1090T|MYOF_ENST00000371501.4_Silent_p.T1103T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1103					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.T1103T(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCCCATCTTCGGTAGTGTCTG	0.458																																						ENST00000371501.4																			1	Substitution - coding silent(1)	p.T1103T(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3307-3309)acC>acA		myoferlin							199.0	191.0	193.0					10																	95115479		1882	4108	5990	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95115479G>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3309C>A	10.37:g.95115479G>T						MYOF_ENST00000371502.4_Silent_p.T1103T|MYOF_ENST00000358334.5_Silent_p.T1090T|MYOF_ENST00000359263.4_Silent_p.T1103T	p.T1103T			Q9NZM1	MYOF_HUMAN			31	3431	-			1103					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.3309C>A	CCDS41551.1																																																																																				0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		9	867	1	0	0.000673444	0.000673444	0.00785517	9	867				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		9	420	0	0	0	0.000308642	0	9	420				
SI	6476	broad.mit.edu	37	3	164793762	164793762	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:164793762C>A	ENST00000264382.3	-	2	101	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	13					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAAGGACAATCAGAGAGATTT	0.284										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(37-39)ctG>ctT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						68.0	68.0	68.0					3																	164793762		2203	4293	6496	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793762C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.39G>T	3.37:g.164793762C>A		HNSCC(35;0.089)					p.L13L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			2	101	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	13					A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.39G>T	CCDS3196.1																																																																																				0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	541	1	0	5.50884e-06	0.00010058	0.000142319	10	541				
SLC4A4	8671	broad.mit.edu	37	4	72319302	72319302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000264485.5	+	12	1530	c.1413G>T	c.(1411-1413)tcG>tcT	p.S471S	SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000340595.3_Silent_p.S427S|SLC4A4_ENST00000351898.6_Silent_p.S471S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471			S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function). {ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGCTCTTTCGGCAATTCTCT	0.413																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1279-1281)tcG>tcT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							203.0	202.0	202.0					4																	72319302		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319302G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1413G>T	4.37:g.72319302G>T						SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000264485.5_Silent_p.S471S	p.S427S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		9	1477	+			471					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1281G>T	CCDS43236.1																																																																																				0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		15	713	1	0	3.45872e-05	0.000422831	0.000740545	15	713				
TBC1D23	55773	broad.mit.edu	37	3	100039700	100039700	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000344949.5_Silent_p.R620R|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	635					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATACAGTCTCGACAAGCGCT	0.353																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1903-1905)Cga>Aga		TBC1 domain family, member 23							91.0	92.0	92.0					3																	100039700		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039700C>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1903C>A	3.37:g.100039700C>A						TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.R620R	p.R635R	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			18	1910	+			635					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.1903C>A	CCDS56265.1																																																																																				0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		9	426	1	0	0.000673444	0.000673444	0.00785517	9	426				
CPE	1363	broad.mit.edu	37	4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	471					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAAATGATGTCAGAAACTTTA	0.303																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1411-1413)tCa>tAa		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70.0	72.0	71.0					4																	166418743		2201	4295	6496	SO:0001587	stop_gained	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166418743C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1412C>A	4.37:g.166418743C>A	ENSP00000386104:p.Ser471*						p.S471*	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	9	1692	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	471					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonsense_Mutation	SNP	ENST00000402744.4	37	c.1412C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	39	7.734767	0.98459	.	.	ENSG00000109472	ENST00000402744	.	.	.	6.08	6.08	0.98989	.	0.158173	0.44688	D	0.000421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7725	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000386104:S471X	S	+	2	0	CPE	166638193	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.891000	0.75639	2.890000	0.99128	0.655000	0.94253	TCA		0.303	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		8	240	1	0	3.86212e-05	0.000673444	0.000778902	8	240				
PTPRN	5798	broad.mit.edu	37	2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTAAGCGTTGGAGAACTGGG	0.557																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(241-243)Caa>Taa		protein tyrosine phosphatase, receptor type, N							74.0	72.0	72.0					2																	220172205		2203	4300	6503	SO:0001587	stop_gained	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220172205G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.241C>T	2.37:g.220172205G>A	ENSP00000295718:p.Gln81*					PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	p.Q81*	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	3	481	-		Renal(207;0.0474)	81					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Nonsense_Mutation	SNP	ENST00000295718.2	37	c.241C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613044	0.87258	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.101357	0.38778	N	0.001570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;48	.	ENSP00000295718:Q81X	Q	-	1	0	PTPRN	219880449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAA		0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			34	214	0	0	0	0.000814825	0	34	214				
ARHGAP24	83478	broad.mit.edu	37	4	86852189	86852189	+	Intron	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:86852189C>A	ENST00000395184.1	+	4	857				ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000264343.4_Silent_p.R36R	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTAGTTTTCGGAAAGGTAG	0.378																																						ENST00000264343.4																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(106-108)Cgg>Agg		Rho GTPase activating protein 24							57.0	60.0	59.0					4																	86852189		2203	4300	6503	SO:0001627	intron_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86852189C>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.391+7266C>A	4.37:g.86852189C>A						ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	p.R36R	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	1	764	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	129			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.106C>A	CCDS34025.1																																																																																				0.378	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		8	300	1	0	0.000157383	0.000157383	0.00254253	8	300				
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000539410.1	+	8	1078	c.692G>T	c.(691-693)cGa>cTa	p.R231L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(379-381)cGa>cTa		growth arrest-specific 2 like 3							129.0	129.0	129.0					12																	101016096		2203	4299	6502	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101016096G>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>T	12.37:g.101016096G>T	ENSP00000439672:p.Arg231Leu					GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L	p.R127L			Q86XJ1	GA2L3_HUMAN			9	1334	+			231			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.380G>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042073	0.75732	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.73;1.73;1.72;1.73	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.41558	0.1164	L	0.31476	0.935	0.35362	D	0.78831	D	0.60575	0.988	D	0.66351	0.943	T	0.44143	-0.9347	10	0.62326	D	0.03	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	L	231;231;127;231	ENSP00000266754:R231L;ENSP00000448955:R231L;ENSP00000442406:R127L;ENSP00000439672:R231L	ENSP00000266754:R231L	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	623	1	0	0.000308642	0.000308642	0.00435582	10	623				
FRMD4A	55691	broad.mit.edu	37	10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1306-1308)cCc>cAc		FERM domain containing 4A							169.0	158.0	162.0					10																	13712473		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712473G>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1307C>A	10.37:g.13712473G>T	ENSP00000350032:p.Pro436His					FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	p.P436H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			17	1675	-			436					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1307C>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874849	0.91664	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.88201	-2.34;-2.35;-2.35;-2.14	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93758	0.7064	10	0.72032	D	0.01	-23.2153	18.8905	0.92399	0.0:0.0:1.0:0.0	.	469;436	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	H	421;436;436;469	ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H	ENSP00000264546:P469H	P	-	2	0	FRMD4A	13752479	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.610000	0.98337	2.707000	0.92482	0.655000	0.94253	CCC		0.502	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		7	353	1	0	5.18039e-06	0.000157383	0.000141431	7	353				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		5	114	0	0	0	0.000673444	0	5	114				
CCDC7	79741	broad.mit.edu	37	10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T	rs368821033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000537047.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	274										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGACTAATCGATTTAATGCC	0.249																																						ENST00000362006.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(820-822)cGa>cTa		coiled-coil domain containing 7							71.0	80.0	77.0					10																	32780874		2203	4295	6498	SO:0001583	missense	221016							g.chr10:32780874G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.821G>T	10.37:g.32780874G>T	ENSP00000355078:p.Arg274Leu					CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L	p.R274L	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN			10	1364	+		Breast(68;0.000207)|Prostate(175;0.0107)	274					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.821G>T	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633269	0.47049	.	.	ENSG00000216937	ENST00000277657;ENST00000362006	T;T	0.38887	1.11;1.11	4.13	-2.58	0.06228	.	.	.	.	.	T	0.34832	0.0911	L	0.34521	1.04	0.09310	N	1	P	0.46064	0.872	P	0.46685	0.524	T	0.35943	-0.9768	9	0.66056	D	0.02	-5.7463	9.3861	0.38345	0.7177:0.0:0.2823:0.0	.	274	Q96M83	CCDC7_HUMAN	L	274	ENSP00000277657:R274L;ENSP00000355078:R274L	ENSP00000277657:R274L	R	+	2	0	CCDC7	32820880	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.418000	0.07080	-0.510000	0.06523	0.561000	0.74099	CGA		0.249	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		19	1161	1	0	0.00074312	0.00074312	0.00863566	19	1161				
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4																			0											c.(1081-1083)caG>caA		zinc finger protein 254							57.0	58.0	58.0					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A						ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		6	412	0	0	0	3.59834e-05	0	6	412				
POFUT2	23275	broad.mit.edu	37	21	46687600	46687600	+	Silent	SNP	G	G	T	rs372635250		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000349485.5	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000331343.7_Silent_p.P347P|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1039-1041)ccC>ccA		protein O-fucosyltransferase 2							174.0	171.0	172.0					21																	46687600		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46687600G>T	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1041C>A	21.37:g.46687600G>T						POFUT2_ENST00000349485.5_Silent_p.P347P|POFUT2_ENST00000471540.1_5'UTR	p.P347P	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	8	1067	-			347					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.1041C>A	CCDS13719.1																																																																																				0.517	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	781	1	0	1.49906e-05	0.000219431	0.000353665	12	781				
KLK13	26085	broad.mit.edu	37	19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A	rs368127123		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512																																						ENST00000595793.1																			1	Substitution - Missense(1)	p.R263L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(787-789)cGa>cTa		kallikrein-related peptidase 13							251.0	236.0	241.0					19																	51559890		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51559890C>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.788G>T	19.37:g.51559890C>A	ENSP00000470555:p.Arg263Leu					KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	p.R263L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	830	-		all_neural(266;0.026)	263			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.788G>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111511	0.37242	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.93366	-3.21	3.78	-3.39	0.04868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.340470	0.05170	N	0.499377	D	0.92061	0.7484	L	0.47016	1.485	0.09310	N	1	P;D;P	0.56287	0.678;0.975;0.671	B;P;B	0.50659	0.136;0.647;0.314	D	0.85149	0.0985	10	0.72032	D	0.01	.	8.6349	0.33941	0.0:0.3664:0.0:0.6336	.	111;190;263	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	L	263;111	ENSP00000334079:R111L	ENSP00000156476:R263L	R	-	2	0	KLK13	56251702	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.309000	0.08145	-0.518000	0.06452	-0.781000	0.03364	CGA		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		10	913	1	0	0.000442599	0.000442599	0.00556767	10	913				
MNS1	55329	broad.mit.edu	37	15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	289	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATTTTCTTGAACTTTTGCC	0.348																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(865-867)Caa>Aaa		meiosis-specific nuclear structural 1							163.0	160.0	161.0					15																	56735874		2192	4291	6483	SO:0001583	missense	55329				meiosis			g.chr15:56735874G>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.865C>A	15.37:g.56735874G>T	ENSP00000260453:p.Gln289Lys					TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	p.Q289K	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	6	1029	-			289			Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.865C>A	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064587	0.08388	.	.	ENSG00000138587	ENST00000260453	T	0.08370	3.1	5.44	5.44	0.79542	.	0.324258	0.33364	N	0.004991	T	0.06600	0.0169	L	0.31065	0.9	0.22305	N	0.999212	B	0.06786	0.001	B	0.13407	0.009	T	0.37753	-0.9692	10	0.05833	T	0.94	-8.4625	14.7812	0.69769	0.0:0.0:0.8554:0.1446	.	289	Q8NEH6	MNS1_HUMAN	K	289	ENSP00000260453:Q289K	ENSP00000260453:Q289K	Q	-	1	0	MNS1	54523166	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.786000	0.55431	2.529000	0.85273	0.637000	0.83480	CAA		0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		10	598	1	0	0.000219431	0.000219431	0.00342116	10	598				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	112	0	0	0	0.000602214	0	4	112				
LDHAL6B	92483	broad.mit.edu	37	15	59499329	59499329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:59499329G>T	ENST00000307144.4	+	1	288	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	64					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTTCACTTCCGAGAAGCCCGT	0.532																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(190-192)Gag>Tag		lactate dehydrogenase A-like 6B	NADH(DB00157)						119.0	108.0	112.0					15																	59499329		2191	4290	6481	SO:0001587	stop_gained	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499329G>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.190G>T	15.37:g.59499329G>T	ENSP00000302393:p.Glu64*					MYO1E_ENST00000288235.4_Intron	p.E64*	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	288	+			64					Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	c.190G>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960368	0.53400	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.47	1.47	0.22746	.	0.084010	0.46758	U	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000302393:E64X	E	+	1	0	LDHAL6B	57286621	1.000000	0.71417	0.011000	0.14972	0.016000	0.09150	2.591000	0.46163	0.784000	0.33661	0.305000	0.20034	GAG		0.532	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		9	444	1	0	0.000274275	0.000274275	0.0039602	9	444				
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						ENST00000561463.1																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)																																																0							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G														0	843	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	217	0	0	0	0.000274275	0	7	217				
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000370398.1	+	2	532	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGGTTGCTTGATTTTGTCAG	0.363																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(421-423)ttG>ttT		potassium voltage-gated channel, KQT-like subfamily, member 5							211.0	172.0	185.0					6																	73713655		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713655G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.423G>T	6.37:g.73713655G>T	ENSP00000359425:p.Leu141Phe					KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F	p.L141F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	2	821	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	141					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.423G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237974	0.79800	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.98563	0.9520	M	0.73962	2.25	0.50813	D	0.999893	P;D;D;D;D;D	0.89917	0.86;1.0;0.989;0.994;1.0;1.0	P;D;P;D;D;D	0.85130	0.743;0.997;0.824;0.915;0.993;0.994	D	0.99264	1.0891	10	0.62326	D	0.03	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	141	ENSP00000345055:L141F;ENSP00000347326:L141F;ENSP00000359425:L141F;ENSP00000359419:L141F;ENSP00000385501:L141F;ENSP00000347853:L141F;ENSP00000384453:L141F;ENSP00000409861:L141F	ENSP00000345055:L141F	L	+	3	2	KCNQ5	73770376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.835000	0.75344	2.769000	0.95229	0.655000	0.94253	TTG		0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		8	388	1	0	0.000673444	0.000673444	0.00785517	8	388				
RNF14	9604	broad.mit.edu	37	5	141354446	141354446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:141354446G>T	ENST00000394520.2	+	4	541	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000394514.2_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	78	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCTGAACTTTGAACTGCCACC	0.413																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(232-234)Gaa>Taa		ring finger protein 14							181.0	160.0	167.0					5																	141354446		2203	4300	6503	SO:0001587	stop_gained	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141354446G>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.232G>T	5.37:g.141354446G>T	ENSP00000378028:p.Glu78*					RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*	p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	541	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	78			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Nonsense_Mutation	SNP	ENST00000394520.2	37	c.232G>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453940	0.96223	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	.	.	.	5.87	5.87	0.94306	.	0.045006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000324956:E78X	E	+	1	0	RNF14	141334630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.795000	0.99099	2.774000	0.95407	0.650000	0.86243	GAA		0.413	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		12	890	1	0	1.49906e-05	0.000219431	0.000353665	12	890				
ZRANB1	54764	broad.mit.edu	37	10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAGAGACGTTCAAAAAGGTAA	0.328																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1222-1224)Caa>Aaa		zinc finger, RAN-binding domain containing 1							122.0	125.0	124.0					10																	126662279		2203	4299	6502	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662279C>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1222C>A	10.37:g.126662279C>A	ENSP00000352676:p.Gln408Lys						p.Q408K	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1593	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	408			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1222C>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995286	0.74703	.	.	ENSG00000019995	ENST00000359653	T	0.20200	2.09	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	M	0.69823	2.125	0.80722	D	1	P	0.43169	0.8	B	0.35899	0.213	T	0.15752	-1.0426	10	0.49607	T	0.09	-25.352	18.3777	0.90440	0.0:1.0:0.0:0.0	.	408	Q9UGI0	ZRAN1_HUMAN	K	408	ENSP00000352676:Q408K	ENSP00000352676:Q408K	Q	+	1	0	ZRANB1	126652269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.562000	0.86427	0.650000	0.86243	CAA		0.328	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		11	816	1	0	6.40141e-05	6.40141e-05	0.00117365	11	816				
DMXL2	23312	broad.mit.edu	37	15	51780219	51780219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51780219C>A	ENST00000251076.5	-	22	5436	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1717						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTTGTTTTCCAAGTAAGGAA	0.348																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(5149-5151)Gga>Tga		Dmx-like 2							142.0	152.0	149.0					15																	51780219		2196	4293	6489	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51780219C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5149G>T	15.37:g.51780219C>A	ENSP00000251076:p.Gly1717*					DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*	p.G1717*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	22	5436	-			1717					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.5149G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	42	9.303235	0.99130	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5735	0.91145	0.0:1.0:0.0:0.0	.	.	.	.	X	1717;1717;1081	.	ENSP00000251076:G1717X	G	-	1	0	DMXL2	49567511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	2.442000	0.82660	0.585000	0.79938	GGA		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		15	1219	1	0	0.000151284	0.000151284	0.00252221	15	1219				
GDI2	2665	broad.mit.edu	37	10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(463-465)cCa>cAa		GDP dissociation inhibitor 2							125.0	122.0	123.0					10																	5827938		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5827938G>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.464C>A	10.37:g.5827938G>T	ENSP00000369538:p.Pro155Gln					GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q|GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q	p.P155Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			5	754	-			155					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.464C>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396501	0.42512	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.31	5.31	0.75309	.	0.364847	0.34932	N	0.003574	T	0.69278	0.3093	M	0.86420	2.815	0.80722	D	1	B;B;B	0.19331	0.035;0.025;0.008	B;B;B	0.31442	0.117;0.13;0.073	T	0.70572	-0.4835	10	0.66056	D	0.02	-11.3866	18.9459	0.92622	0.0:0.0:1.0:0.0	.	159;110;155	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	155;159;110;145;119	ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q	ENSP00000369475:P159Q	P	-	2	0	GDI2	5867944	1.000000	0.71417	0.149000	0.22428	0.114000	0.19823	9.668000	0.98619	2.653000	0.90120	0.655000	0.94253	CCA		0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		7	456	1	0	0.000157383	0.000157383	0.00254253	7	456				
TMEM184C	55751	broad.mit.edu	37	4	148545043	148545043	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:148545043C>A	ENST00000296582.3	+	2	756	c.182C>A	c.(181-183)cCt>cAt	p.P61H	TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	61						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGACTATTCCTATATCACTG	0.308																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(181-183)cCt>cAt		transmembrane protein 184C							129.0	128.0	129.0					4																	148545043		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545043C>A	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.182C>A	4.37:g.148545043C>A	ENSP00000296582:p.Pro61His					TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			2	756	+			61					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.182C>A	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780655	0.90195	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.41758	0.99;0.99	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42464	-0.9450	10	0.15499	T	0.54	-16.4458	19.5645	0.95388	0.0:1.0:0.0:0.0	.	61	Q9NVA4	T184C_HUMAN	H	61	ENSP00000296582:P61H;ENSP00000425940:P61H	ENSP00000296582:P61H	P	+	2	0	TMEM184C	148764493	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.776000	0.85560	2.695000	0.91970	0.557000	0.71058	CCT		0.308	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		8	513	1	0	2.17888e-05	0.000442599	0.00047966	8	513				
ACOT4	122970	broad.mit.edu	37	14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(589-591)cCc>cAc		acyl-CoA thioesterase 4							158.0	148.0	151.0					14																	74060538		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060538C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.590C>A	14.37:g.74060538C>A	ENSP00000323071:p.Pro197His						p.P197H	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	844	+			197					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.590C>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295226	0.60086	.	.	ENSG00000177465	ENST00000326303	T	0.50277	0.75	5.15	5.15	0.70609	.	0.053368	0.85682	D	0.000000	T	0.76564	0.4005	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83418	0.0031	10	0.87932	D	0	-8.5859	13.022	0.58794	0.0:0.9195:0.0:0.0805	.	197	Q8N9L9	ACOT4_HUMAN	H	197	ENSP00000323071:P197H	ENSP00000323071:P197H	P	+	2	0	ACOT4	73130291	0.997000	0.39634	0.887000	0.34795	0.487000	0.33371	4.982000	0.63825	2.394000	0.81467	0.491000	0.48974	CCC		0.468	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		10	780	1	0	5.50884e-06	0.00010058	0.000142319	10	780				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.P503R(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1507-1509)cCt>cGt		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_ENST00000441304.2_3'UTR	p.P503R	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1683	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			6	321	0	0	0	3.59834e-05	0	6	321				
BAZ1B	9031	broad.mit.edu	37	7	72891240	72891240	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72891240G>T	ENST00000339594.4	-	7	2889	c.2551C>A	c.(2551-2553)Caa>Aaa	p.Q851K	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTTAGCTTGAATGGCAAGC	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2551-2553)Caa>Aaa		bromodomain adjacent to zinc finger domain, 1B							184.0	180.0	181.0					7																	72891240		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891240G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2551C>A	7.37:g.72891240G>T	ENSP00000342434:p.Gln851Lys					BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2889	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	851					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2551C>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052651	0.55218	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59364	0.27;0.27	5.7	4.8	0.61643	.	0.050445	0.85682	D	0.000000	T	0.50616	0.1626	L	0.52759	1.655	0.46241	D	0.99894	B	0.22800	0.075	B	0.21151	0.033	T	0.44421	-0.9329	10	0.15952	T	0.53	-20.585	14.9793	0.71301	0.0:0.0:0.8563:0.1437	.	851	Q9UIG0	BAZ1B_HUMAN	K	851	ENSP00000342434:Q851K;ENSP00000385442:Q851K	ENSP00000342434:Q851K	Q	-	1	0	BAZ1B	72529176	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.262000	0.95591	1.379000	0.46325	0.491000	0.48974	CAA		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		16	1046	1	0	0.000422831	0.000422831	0.00556767	16	1046				
SYNM	23336	broad.mit.edu	37	15	99669709	99669709	+	Missense_Mutation	SNP	C	C	A	rs569686388		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99669709C>A	ENST00000560674.1	+	4	755	c.286C>A	c.(286-288)Cgt>Agt	p.R96S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.R381S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	382	Coil 1B.|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						GTCAGGGCACCGTGGATCTCA	0.488																																					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.(1141-1143)Cgt>Agt		synemin, intermediate filament protein							175.0	178.0	177.0					15																	99669709		1942	4137	6079	SO:0001583	missense	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.chr15:99669709C>A	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.286C>A	15.37:g.99669709C>A	ENSP00000453040:p.Arg96Ser					SYNM_ENST00000560674.1_Missense_Mutation_p.R96S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S	p.R381S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1261	+			382			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1141C>A		.	.	.	.	.	.	.	.	.	.	C	7.619	0.676397	0.14841	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.82255	-1.56;-1.59	4.65	-1.51	0.08664	.	.	.	.	.	T	0.66436	0.2789	.	.	.	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.002	T	0.48714	-0.9011	8	0.22109	T	0.4	.	5.6352	0.17532	0.0:0.276:0.168:0.556	.	382;381	O15061;C9JIE4	SYNEM_HUMAN;.	S	381	ENSP00000336775:R381S;ENSP00000330469:R381S	ENSP00000330469:R381S	R	+	1	0	SYNM	97487232	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.153000	0.10144	-0.145000	0.11294	0.585000	0.79938	CGT		0.488	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		8	915	1	0	0.000442599	0.000442599	0.00556767	8	915				
RFX4	5992	broad.mit.edu	37	12	107103179	107103179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:107103179C>A	ENST00000392842.1	+	9	1319	c.905C>A	c.(904-906)cCa>cAa	p.P302Q	RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	302					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACGACCTCCCAGAAAACTTG	0.398																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(904-906)cCa>cAa		regulatory factor X, 4 (influences HLA class II expression)							88.0	78.0	81.0					12																	107103179		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107103179C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.905C>A	12.37:g.107103179C>A	ENSP00000376585:p.Pro302Gln					RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q|RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron	p.P302Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			9	1319	+			302					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.905C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310682	0.95629	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.91464	-0.74;-0.74;-2.85;0.01	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.91635	0.999;0.996;0.996;0.987	D	0.95640	0.8697	10	0.87932	D	0	-10.1755	19.5955	0.95536	0.0:1.0:0.0:0.0	.	208;311;311;302	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	Q	302;311;311;247;208	ENSP00000376585:P302Q;ENSP00000350552:P311Q;ENSP00000448694:P247Q;ENSP00000229387:P208Q	ENSP00000229387:P208Q	P	+	2	0	RFX4	105627309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.626000	0.88956	0.650000	0.86243	CCA		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	333	1	0	2.17888e-05	0.000442599	0.00047966	7	333				
GEN1	348654	broad.mit.edu	37	2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAAGACTCGAATCAGAAAT	0.274								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1216-1218)cGa>cTa	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							79.0	86.0	84.0					2																	17959283		2199	4269	6468	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17959283G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1217G>T	2.37:g.17959283G>T	ENSP00000370653:p.Arg406Leu					GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	p.R406L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			12	1431	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		406					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1217G>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449211	0.84101	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	T	0.66723	0.2818	M	0.76002	2.32	0.50467	D	0.999871	D	0.89917	1.0	D	0.85130	0.997	T	0.70238	-0.4927	10	0.87932	D	0	-14.2737	18.7563	0.91833	0.0:0.0:1.0:0.0	.	406	Q17RS7	GEN_HUMAN	L	406;406;177;43	ENSP00000318977:R406L;ENSP00000370653:R406L;ENSP00000431542:R177L	ENSP00000318977:R406L	R	+	2	0	GEN1	17822764	1.000000	0.71417	0.925000	0.36789	0.894000	0.52154	4.945000	0.63568	2.601000	0.87937	0.655000	0.94253	CGA		0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		11	653	1	0	6.40141e-05	6.40141e-05	0.00117365	11	653				
TSHZ3	57616	broad.mit.edu	37	19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	321					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTTTCTTCCGAGTGGCAGG	0.527																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(961-963)cGg>cTg		teashirt zinc finger homeobox 3							111.0	114.0	113.0					19																	31769737		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769737C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.962G>T	19.37:g.31769737C>A	ENSP00000240587:p.Arg321Leu						p.R321L	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1289	-	Esophageal squamous(110;0.226)		321					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.962G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817102	0.50633	.	.	ENSG00000121297	ENST00000240587	T	0.12569	2.67	5.33	5.33	0.75918	.	0.120599	0.52532	D	0.000061	T	0.16171	0.0389	L	0.40543	1.245	0.58432	D	0.999998	P	0.42757	0.789	B	0.40101	0.319	T	0.01195	-1.1422	10	0.62326	D	0.03	-26.965	19.0278	0.92939	0.0:1.0:0.0:0.0	.	321	Q63HK5	TSH3_HUMAN	L	321	ENSP00000240587:R321L	ENSP00000240587:R321L	R	-	2	0	TSHZ3	36461577	1.000000	0.71417	0.967000	0.41034	0.394000	0.30568	7.487000	0.81328	2.479000	0.83701	0.563000	0.77884	CGG		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	409	1	0	0.000442599	0.000442599	0.00556767	7	409				
DNAJB14	79982	broad.mit.edu	37	4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(211-213)Gat>Tat		DnaJ (Hsp40) homolog, subfamily B, member 14							271.0	240.0	250.0					4																	100851701		2203	4300	6503	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100851701C>A	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.211G>T	4.37:g.100851701C>A	ENSP00000404381:p.Asp71Tyr					DNAJB14_ENST00000471738.1_5'UTR	p.D71Y	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	2	365	-			71					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.211G>T	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503702	0.44558	.	.	ENSG00000164031	ENST00000442697	T	0.64618	-0.11	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.56217	0.1970	L	0.36672	1.1	0.23243	N	0.998052	B	0.12630	0.006	B	0.10450	0.005	T	0.53056	-0.8492	10	0.62326	D	0.03	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	Y	71	ENSP00000404381:D71Y	ENSP00000404381:D71Y	D	-	1	0	DNAJB14	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT		0.428	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		10	688	1	0	0.000673444	0.000673444	0.00785517	10	688				
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	rs200753356	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													C|||	4	0.000798722	0.0	0.0029	5008	,	,		22925	0.0		0.0	False		,,,				2504	0.002					ENST00000344876.4																			2	Substitution - Missense(2)	p.R582H(2)	breast(1)|pancreas(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1744-1746)cGt>cAt		protocadherin 18		C	HIS/ARG	0,4406		0,0,2203	207.0	193.0	197.0		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451498C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1745G>A	4.37:g.138451498C>T	ENSP00000355082:p.Arg582His					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron	p.R582H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2131	-	all_hematologic(180;0.24)		582			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1745G>A	CCDS34064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		98	749	0	0	0	0.000781405	0	98	749				
FAM13B	51306	broad.mit.edu	37	5	137278825	137278825	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(2353-2355)atC>atA		family with sequence similarity 13, member B							95.0	97.0	96.0					5																	137278825		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137278825G>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2355C>A	5.37:g.137278825G>T						FAM13B_ENST00000425075.2_Silent_p.I661I|FAM13B_ENST00000420893.2_Silent_p.I757I	p.I785I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			20	2806	-			785					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.2355C>A	CCDS4195.1																																																																																				0.363	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			8	363	1	0	0.000274275	0.000274275	0.0039602	8	363				
EIF4G3	8672	broad.mit.edu	37	1	21180069	21180069	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000264211.8	-	21	3561	c.3367C>A	c.(3367-3369)Cga>Aga	p.R1123R	EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000602326.1_Silent_p.R1129R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000400422.1_Silent_p.R1123R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1123					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGTCCTTCGGGAATCAAAC	0.507																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3385-3387)Cga>Aga		eukaryotic translation initiation factor 4 gamma, 3							112.0	100.0	104.0					1																	21180069		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21180069G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3367C>A	1.37:g.21180069G>T						EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000264211.8_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R	p.R1129R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	25	3968	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1123					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.3385C>A	CCDS214.1																																																																																				0.507	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		6	172	1	0	5.18039e-06	0.000157383	0.000141431	6	172				
OCA2	4948	broad.mit.edu	37	15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000353809.5_Missense_Mutation_p.V223M|OCA2_ENST00000382996.2_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	223					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(667-669)Gtg>Atg		oculocutaneous albinism II							28.0	24.0	26.0					15																	28263683		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28263683C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.667G>A	15.37:g.28263683C>T	ENSP00000346659:p.Val223Met					OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	7	822	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	223					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.667G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	4.620	0.115289	0.08831	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.54	-10.1	0.00402	.	2.689910	0.01503	N	0.017593	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.006	T	0.27054	-1.0085	10	0.33940	T	0.23	4.2318	0.9888	0.01452	0.1922:0.1624:0.2845:0.3609	.	223;223	Q04671-2;Q04671	.;P_HUMAN	M	223	ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M	ENSP00000261276:V223M	V	-	1	0	OCA2	25937278	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.018000	0.03626	-2.789000	0.00357	-0.794000	0.03295	GTG		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		17	94	0	0	0	0.00074312	0	17	94				
SLC30A7	148867	broad.mit.edu	37	1	101387303	101387303	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:101387303G>T	ENST00000370112.4	+	8	935	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	250					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGAAGTATTGGTGTAATTGC	0.303																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(748-750)Ggt>Tgt		solute carrier family 30 (zinc transporter), member 7							169.0	159.0	163.0					1																	101387303		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101387303G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.748G>T	1.37:g.101387303G>T	ENSP00000359130:p.Gly250Cys					SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	8	935	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	250					B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.748G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471709	0.84533	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.67865	-0.29;-0.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90939	0.4796	10	0.66056	D	0.02	-8.6001	19.3501	0.94379	0.0:0.0:1.0:0.0	.	250	Q8NEW0	ZNT7_HUMAN	C	250	ENSP00000359130:G250C;ENSP00000350278:G250C	ENSP00000350278:G250C	G	+	1	0	SLC30A7	101159891	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.254000	0.95512	2.639000	0.89480	0.655000	0.94253	GGT		0.303	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		10	1041	1	0	1.58986e-06	0.000673444	4.62318e-05	10	1041				
BARHL1	56751	broad.mit.edu	37	9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	181					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCACGCAAGGCGCGCACGGCC	0.677																																						ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(541-543)gCg>gTg		BarH-like homeobox 1							24.0	20.0	21.0					9																	135462791		2198	4299	6497	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135462791C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.542C>T	9.37:g.135462791C>T	ENSP00000263610:p.Ala181Val					BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	2	1155	+			181					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.542C>T	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831568	0.91036	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.96265	-3.96;-3.96	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	N	0.25094	0.71	0.80722	D	1	P	0.39060	0.657	B	0.41723	0.365	D	0.94391	0.7614	10	0.87932	D	0	.	15.5939	0.76562	0.0:1.0:0.0:0.0	.	181	Q9BZE3	BARH1_HUMAN	V	181	ENSP00000263610:A181V;ENSP00000444704:A181V	ENSP00000263610:A181V	A	+	2	0	BARHL1	134452612	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.811000	0.86092	2.269000	0.75478	0.555000	0.69702	GCG		0.677	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			5	39	0	0	0	0.000602214	0	5	39				
MACF1	23499	broad.mit.edu	37	1	39852861	39852861	+	Missense_Mutation	SNP	G	G	T	rs569180777	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39852861G>T	ENST00000372915.3	+	57	14449	c.14362G>T	c.(14362-14364)Gat>Tat	p.D4788Y	MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000564288.1_Missense_Mutation_p.D4783Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4788					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTTCAGCCGATCGCATTAA	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14347-14349)Gat>Tat		microtubule-actin crosslinking factor 1							103.0	116.0	111.0					1																	39852861		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39852861G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14362G>T	1.37:g.39852861G>T	ENSP00000362006:p.Asp4788Tyr					MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y|MACF1_ENST00000372915.3_Missense_Mutation_p.D4788Y	p.D4783Y			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15124	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4788					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14347G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.07|17.07	3.293902|3.293902	0.60086|0.60086	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.35973|.	1.28;1.28;1.28;1.28;1.28;1.28|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.70842|0.70842	0.3270|0.3270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.748;0.701|.	D;B;P|.	0.97110|.	1.0;0.362;0.481|.	T|T	0.64110|0.64110	-0.6484|-0.6484	10|5	0.59425|.	D|.	0.04|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4788;2721;2665|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Y|L	2721;4788;2721;2721;2700;3223|1833	ENSP00000439537:D2721Y;ENSP00000362006:D4788Y;ENSP00000354573:D2721Y;ENSP00000313438:D2721Y;ENSP00000444364:D2700Y;ENSP00000289893:D3223Y|.	ENSP00000289893:D3223Y|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39625448|39625448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.679000|5.679000	0.68160|0.68160	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	634	1	0	0.000442599	0.000442599	0.00556767	8	634				
DDX23	9416	broad.mit.edu	37	12	49237775	49237775	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:49237775G>T	ENST00000308025.3	-	3	347	c.268C>A	c.(268-270)Cga>Aga	p.R90R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	90	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R90R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTCGATCTCGGTCCTTCTTA	0.488																																						ENST00000308025.3																			1	Substitution - coding silent(1)	p.R90R(1)	lung(1)	NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(268-270)Cga>Aga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							417.0	355.0	376.0					12																	49237775		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49237775G>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.268C>A	12.37:g.49237775G>T						DDX23_ENST00000553182.1_5'UTR	p.R90R	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			3	347	-			90			Arg-rich.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.268C>A	CCDS8770.1																																																																																				0.488	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		14	1015	1	0	0.000308642	0.000308642	0.00435582	14	1015				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		7	360	0	0	0	0.000442599	0	7	360				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	48	0	0	0	0.000274275	0	5	48				
KLHL8	57563	broad.mit.edu	37	4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1741-1743)tGg>tTg		kelch-like family member 8							85.0	80.0	82.0					4																	88084792		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88084792C>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1742G>T	4.37:g.88084792C>A	ENSP00000273963:p.Trp581Leu					KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L	p.W581L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	10	2083	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	581					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1742G>T	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081410	0.94050	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.7	5.7	0.88788	Galactose oxidase, beta-propeller (1);	0.061501	0.64402	D	0.000001	D	0.98899	0.9627	H	0.98178	4.165	0.80722	D	1	P;D;D	0.65815	0.896;0.986;0.995	P;P;D	0.67548	0.673;0.907;0.952	D	0.99437	1.0937	10	0.87932	D	0	.	18.0017	0.89199	0.0:1.0:0.0:0.0	.	398;505;581	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	581;505;398;230;581	ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L	ENSP00000273963:W581L	W	-	2	0	KLHL8	88303816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.476000	0.81055	2.693000	0.91896	0.467000	0.42956	TGG		0.398	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			9	304	1	0	0.000442599	0.000442599	0.00556767	9	304				
XRN2	22803	broad.mit.edu	37	20	21327079	21327079	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:21327079G>T	ENST00000377191.3	+	17	1651	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	XRN2_ENST00000539513.1_Missense_Mutation_p.R465L|XRN2_ENST00000430571.2_Missense_Mutation_p.R443L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	519					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAAGCAGCGGTACTACAAG	0.438																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(1555-1557)cGg>cTg		5'-3' exoribonuclease 2							163.0	158.0	159.0					20																	21327079		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21327079G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1556G>T	20.37:g.21327079G>T	ENSP00000366396:p.Arg519Leu					XRN2_ENST00000430571.2_Missense_Mutation_p.R443L|XRN2_ENST00000539513.1_Missense_Mutation_p.R465L	p.R519L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			17	1651	+			519					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.1556G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471937	0.96274	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.24908	1.83;1.83;1.83	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64778	-0.6327	10	0.87932	D	0	-12.6741	20.3495	0.98807	0.0:0.0:1.0:0.0	.	519	Q9H0D6	XRN2_HUMAN	L	519;443;465	ENSP00000366396:R519L;ENSP00000413548:R443L;ENSP00000441113:R465L	ENSP00000366396:R519L	R	+	2	0	XRN2	21275079	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	9.444000	0.97578	2.814000	0.96858	0.591000	0.81541	CGG		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		7	522	1	0	0.000442599	0.000442599	0.00556767	7	522				
PIKFYVE	200576	broad.mit.edu	37	2	209216171	209216171	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:209216171C>A	ENST00000264380.4	+	38	5865	c.5707C>A	c.(5707-5709)Caa>Aaa	p.Q1903K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1903	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAATGCTGTTCAACAAAAGGT	0.348																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(5707-5709)Caa>Aaa		phosphoinositide kinase, FYVE finger containing							142.0	150.0	148.0					2																	209216171		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209216171C>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5707C>A	2.37:g.209216171C>A	ENSP00000264380:p.Gln1903Lys						p.Q1903K	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			38	5865	+			1903			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5707C>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270734	0.59540	.	.	ENSG00000115020	ENST00000264380	T	0.34472	1.36	6.06	6.06	0.98353	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051349	0.85682	D	0.000000	T	0.24431	0.0592	N	0.11201	0.11	0.80722	D	1	P	0.44521	0.837	B	0.40066	0.318	T	0.03795	-1.1003	10	0.18276	T	0.48	-15.0232	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1903	Q9Y2I7	FYV1_HUMAN	K	1903	ENSP00000264380:Q1903K	ENSP00000264380:Q1903K	Q	+	1	0	PIKFYVE	208924416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.614000	0.67695	2.871000	0.98454	0.655000	0.94253	CAA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		11	835	1	0	2.31682e-05	0.000308642	0.000501203	11	835				
SPRR2E	6704	broad.mit.edu	37	1	153066021	153066021	+	Silent	SNP	G	G	C	rs79132921	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153066021G>C	ENST00000368751.1	-	2	281	c.207C>G	c.(205-207)ccC>ccG	p.P69P	SPRR2E_ENST00000368750.3_Silent_p.P69P|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	69					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTGGGTGGACACT	0.522																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(205-207)ccC>ccG		small proline-rich protein 2E							248.0	239.0	242.0					1																	153066021		2203	4300	6503	SO:0001819	synonymous_variant	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066021G>C	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.207C>G	1.37:g.153066021G>C						SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Silent_p.P69P	p.P69P			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	281	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		69					Q5T9T4|Q96RM2	Silent	SNP	ENST00000368751.1	37	c.207C>G	CCDS30866.1																																																																																				0.522	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			9	849	0	0	0	0.000566183	0	9	849				
STX2	2054	broad.mit.edu	37	12	131297527	131297527	+	Silent	SNP	C	C	A	rs372307871		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297527C>A	ENST00000392373.2	-	4	349	c.255G>T	c.(253-255)gcG>gcT	p.A85A	snoU13_ENST00000459050.1_RNA|STX2_ENST00000261653.6_Silent_p.A85A|RP11-989F5.1_ENST00000546264.1_lincRNA|RP11-989F5.3_ENST00000542821.1_lincRNA	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	85					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GAATTTTATTCGCAGTTTTCT	0.249																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(253-255)gcG>gcT		syntaxin 2							97.0	100.0	99.0					12																	131297527		2202	4296	6498	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131297527C>A	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.255G>T	12.37:g.131297527C>A						STX2_ENST00000392373.2_Silent_p.A85A	p.A85A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	4	421	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		85					Q86VW8	Silent	SNP	ENST00000392373.2	37	c.255G>T	CCDS9270.1																																																																																				0.249	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		10	719	1	0	1.05317e-09	0.000219431	3.94277e-08	10	719				
NEB	4703	broad.mit.edu	37	2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A	rs201965465		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000172853.10	-	65	9302	c.9155G>T	c.(9154-9156)cGg>cTg	p.R3052L	NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L			P20929	NEBU_HUMAN	nebulin	3052					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAATGTTCCGGGCTCCAAT	0.438																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9883-9885)cGg>cTg		nebulin							243.0	228.0	233.0					2																	152484296		1901	4118	6019	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484296C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9155G>T	2.37:g.152484296C>A	ENSP00000172853:p.Arg3052Leu					NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000172853.10_Missense_Mutation_p.R3052L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L	p.R3295L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	69	10086	-			3295					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9884G>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.461325	0.84317	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	2.97;3.02;2.99;2.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.45672	0.864	P	0.45037	0.467	T	0.00632	-1.1635	10	0.49607	T	0.09	.	19.5601	0.95368	0.0:1.0:0.0:0.0	.	3052	P20929	NEBU_HUMAN	L	3052;3295;3295;3052	ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L	ENSP00000172853:R3052L	R	-	2	0	NEB	152192542	0.989000	0.36119	0.899000	0.35326	0.954000	0.61252	3.126000	0.50477	2.620000	0.88729	0.650000	0.86243	CGG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	1158	1	0	1.12685e-05	0.000274275	0.000275198	10	1158				
SBNO1	55206	broad.mit.edu	37	12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000602398.1	-	26	3527	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K|SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1134					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGGCATTTTGAACAACTGCA	0.383																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3400-3402)Caa>Aaa		strawberry notch homolog 1 (Drosophila)							146.0	144.0	145.0					12																	123794299		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794299G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3400C>A	12.37:g.123794299G>T	ENSP00000473665:p.Gln1134Lys					SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000602398.1_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K	p.Q1134K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3399	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1134					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3400C>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682710	0.29872	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.28255	1.62;1.62	5.3	4.4	0.53042	.	0.072967	0.56097	D	0.000032	T	0.18467	0.0443	N	0.14661	0.345	0.48632	D	0.999684	B;B;B	0.33777	0.425;0.372;0.005	B;B;B	0.31812	0.136;0.083;0.011	T	0.07539	-1.0767	10	0.26408	T	0.33	-15.4955	14.3194	0.66476	0.0732:0.0:0.9268:0.0	.	1134;1133;245	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	K	1134;1133	ENSP00000387361:Q1134K;ENSP00000267176:Q1133K	ENSP00000267176:Q1133K	Q	-	1	0	SBNO1	122360252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.590000	0.61013	2.471000	0.83476	0.467000	0.42956	CAA		0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		14	801	1	0	4.93089e-13	0.000219431	1.95113e-11	14	801				
TENM1	10178	broad.mit.edu	37	X	123637539	123637539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123637539C>A	ENST00000371130.3	-	19	3379	c.3316G>T	c.(3316-3318)Gaa>Taa	p.E1106*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.E1106*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1106					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTTTCATATTCATATCCCACA	0.373																																						ENST00000422452.2																			0											c.(3316-3318)Gaa>Taa		teneurin transmembrane protein 1							153.0	147.0	149.0					X																	123637539		2203	4300	6503	SO:0001587	stop_gained	10178							g.chrX:123637539C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3316G>T	X.37:g.123637539C>A	ENSP00000360171:p.Glu1106*					TENM1_ENST00000371130.3_Nonsense_Mutation_p.E1106*	p.E1106*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					19	3379	-								B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.3316G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	44	10.590277	0.99433	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8649	0.92287	0.0:1.0:0.0:0.0	.	.	.	.	X	1106	.	ENSP00000360171:E1106X	E	-	1	0	ODZ1	123465220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.402000	0.81655	0.600000	0.82982	GAA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		12	929	1	0	0.000151284	0.000151284	0.00252221	12	929				
URB2	9816	broad.mit.edu	37	1	229763469	229763469	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:229763469G>T	ENST00000258243.2	+	2	225	c.89G>T	c.(88-90)tGg>tTg	p.W30L	TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000477957.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	30						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACTTTGCTTGGATTTCTCAC	0.338																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(88-90)tGg>tTg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							99.0	111.0	107.0					1																	229763469		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229763469G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.89G>T	1.37:g.229763469G>T	ENSP00000258243:p.Trp30Leu						p.W30L	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			2	225	+			30					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.89G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169822	0.78452	.	.	ENSG00000135763	ENST00000258243	T	0.75938	-0.98	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79150	-0.1922	9	.	.	.	-14.7331	18.8725	0.92320	0.0:0.0:1.0:0.0	.	30	Q14146	URB2_HUMAN	L	30	ENSP00000258243:W30L	.	W	+	2	0	URB2	227830092	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.968000	0.70413	2.525000	0.85131	0.561000	0.74099	TGG		0.338	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	542	1	0	3.86212e-05	0.000673444	0.000778902	8	542				
HECW2	57520	broad.mit.edu	37	2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.3	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1319	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3955-3957)aTa>aCa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							141.0	114.0	123.0					2																	197090556		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197090556A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3956T>C	2.37:g.197090556A>G	ENSP00000260983:p.Ile1319Thr					HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	p.I1319T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			23	4138	-			1319			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3956T>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636658	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57907	0.37;0.37	5.17	5.17	0.71159	HECT (4);	0.089981	0.85682	D	0.000000	T	0.62429	0.2427	M	0.64997	1.995	0.80722	D	1	D	0.53619	0.961	P	0.52627	0.704	T	0.67581	-0.5634	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1319	Q9P2P5	HECW2_HUMAN	T	963;1319	ENSP00000386775:I963T;ENSP00000260983:I1319T	ENSP00000260983:I1319T	I	-	2	0	HECW2	196798801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	ATA		0.403	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		36	319	0	0	0	0.000437636	0	36	319				
CSMD2	114784	broad.mit.edu	37	1	33985222	33985222	+	Silent	SNP	G	G	T	rs144356782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:33985222G>T	ENST00000373381.4	-	70	10968	c.10792C>A	c.(10792-10794)Cgg>Agg	p.R3598R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3454W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATGTGGCCCGAACATTGGTG	0.537																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.R3454W(1)	skin(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10792-10794)Cgg>Agg		CUB and Sushi multiple domains 2							316.0	275.0	289.0					1																	33985222		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985222G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10792C>A	1.37:g.33985222G>T							p.R3598R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			70	10968	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3454					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10792C>A																																																																																					0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	1162	1	0	1.49906e-05	0.000219431	0.000353665	15	1162				
SYT9	143425	broad.mit.edu	37	11	7335003	7335003	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:7335003C>A	ENST00000318881.6	+	3	1112	c.875C>A	c.(874-876)cCg>cAg	p.P292Q	SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTTATTTCCGGTTCCCTAC	0.433																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(874-876)cCg>cAg		synaptotagmin IX							204.0	206.0	205.0					11																	7335003		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7335003C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.875C>A	11.37:g.7335003C>A	ENSP00000324419:p.Pro292Gln					SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	p.P292Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1112	+			292			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.875C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958114	0.73902	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.68903	-0.36;-0.36	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.188620	0.37955	N	0.001878	T	0.54631	0.1870	N	0.04387	-0.21	0.58432	D	0.999995	P	0.34743	0.466	P	0.44772	0.46	T	0.54330	-0.8310	9	.	.	.	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	292	Q86SS6	SYT9_HUMAN	Q	260;292	ENSP00000379944:P260Q;ENSP00000324419:P292Q	.	P	+	2	0	SYT9	7291579	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	4.967000	0.63722	2.836000	0.97738	0.655000	0.94253	CCG		0.433	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		9	1028	1	0	0.000442599	0.000442599	0.00556767	9	1028				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		7	48						7	48	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aaafs	p.K464fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K438fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			1	Deletion - Frameshift(1)	p.N439fs*19(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1387-1389)aafs		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							70.0	83.0	79.0					1																	24078404		2195	4299	6494	SO:0001589	frameshift_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078404delA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1387delA	1.37:g.24078404delA	ENSP00000395574:p.Lys464fs		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.K464fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1658	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	464					B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	c.1387delA	CCDS239.2																																																																																				0.413	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		9	753						9	753	---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1.0			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		8	867						8	867	---	---	---	---
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-	rs150759040		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144.0	130.0	135.0					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		7	740						7	740	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171.0	155.0	160.0					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	699						7	699	---	---	---	---
ACBD3	64746	broad.mit.edu	37	1	226352490	226352491	+	Splice_Site	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.568_569insA	c.(568-570)agg>aAgg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e3+1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352490_226352491insT	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1->A	1.37:g.226352499_226352499dupT							p.E190_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	622_623	-	Breast(184;0.158)		190			Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	INS	ENST00000366812.5	37	c.569_splice	CCDS1551.1																																																																																				0.411	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Frame_Shift_Ins	9	451						9	451	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		8	706						8	706	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		12	367						12	367	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000376700.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90.0	96.0	94.0					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000329106.2_Frame_Shift_Del_p.E12fs	p.E12fs			Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		7	646						7	646	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148657040	148657041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:148657040_148657041insA	ENST00000241416.7	+	3	913_914	c.277_278insA	c.(277-279)gaafs	p.E93fs	ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.E93fs|ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGATTGTGTAGAAAAAAAAGAC	0.302																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(277-279)aaafs		activin A receptor, type IIA																																				SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657040_148657041insA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.285dupA	2.37:g.148657048_148657048dupA	ENSP00000241416:p.Glu93fs					AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs|ACVR2A_ENST00000535787.1_5'UTR	p.K93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	913_914	+			93					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	ENST00000241416.7	37	c.277_278insA	CCDS33301.1																																																																																				0.302	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		7	584						7	584	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(571-573)aafs		Sjogren syndrome antigen B (autoantigen La)							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs	p.K192fs			P05455	LA_HUMAN			7	818	+			192					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		8	584						8	584	---	---	---	---
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65.0	72.0	70.0					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		7	573						7	573	---	---	---	---
LINC01237	101927289	broad.mit.edu	37	2	242823746	242823749	+	RNA	DEL	GTGT	GTGT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:242823746_242823749delGTGT	ENST00000429947.1	+	0	0				AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000430555.1_RNA|AC131097.3_ENST00000415434.1_RNA																							GTGGCCCAGCgtgtgtgtgtgtgt	0.691																																						ENST00000430555.1																			0																																																			0							g.chr2:242823746_242823749delGTGT																													2.37:g.242823754_242823757delGTGT						AC131097.3_ENST00000415434.1_RNA|AC131097.3_ENST00000457686.1_RNA								0	116	+									RNA	DEL	ENST00000429947.1	37																																																																																						0.691	AC131097.3-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000322316.1			3	6						3	6	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		8	29						8	29	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1819-1821)del		SATB homeobox 1			,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0.0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391133_18391135delCTG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del					SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del	p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3553_3555	-			607			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1819_1821delCAG	CCDS2631.1																																																																																				0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		7	118						7	118	---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181.0	175.0	177.0					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			8	1169						8	1169	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		9	1198						9	1198	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	192						9	192	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219.0	201.0	207.0					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	844						7	844	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2185-2187)agfs		ZXD family zinc finger C							288.0	315.0	306.0					3																	126178522		2005	4167	6172	SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178522delT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2186delA	3.37:g.126178522delT	ENSP00000374359:p.Lys729fs						p.K729fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2239	-			729					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.2186delA	CCDS43145.1																																																																																				0.522	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		8	1659						8	1659	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133329879	133329880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:133329879_133329880insT	ENST00000260810.5	-	25	4272_4273	c.4141_4142insA	c.(4141-4143)atcfs	p.I1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCTC	0.342								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4141-4143)ccafs	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1																																				SO:0001589	frameshift_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133329879_133329880insT	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4142dupA	3.37:g.133329887_133329887dupT	ENSP00000260810:p.Ile1381fs						p.P1381fs	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			25	4272_4273	-			1381					B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Ins	INS	ENST00000260810.5	37	c.4141_4142insA	CCDS46919.1																																																																																				0.342	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		8	813						8	813	---	---	---	---
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512.0	470.0	484.0					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		7	1078						7	1078	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		9	784						9	784	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		16	693						16	693	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		8	385						8	385	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	263						9	263	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853094	40853094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:40853094delT	ENST00000254691.5	+	3	1859	c.1660delT	c.(1660-1662)tttfs	p.F556fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAGCTGTGTTTTTTTTCAC	0.418																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1660-1662)ttfs		caspase recruitment domain family, member 6							98.0	102.0	101.0					5																	40853094		2203	4300	6503	SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853094delT	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1660delT	5.37:g.40853094delT	ENSP00000254691:p.Phe556fs					CARD6_ENST00000381677.3_Intron	p.F556fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1859	+			556					Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	c.1660delT	CCDS3935.1																																																																																				0.418	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			7	658						7	658	---	---	---	---
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1627-1629)tfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160299_41160300delAC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1628_1629delGT	5.37:g.41160307_41160308delAC	ENSP00000263413:p.Cys543fs					C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1892_1893	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	543			EGF-like.			Frame_Shift_Del	DEL	ENST00000263413.3	37	c.1628_1629delGT	CCDS3936.1																																																																																				0.475	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	515						7	515	---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2671572	2671574	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:2671572_2671574delTTC	ENST00000274643.7	-	12	1470_1472	c.1128_1130delGAA	c.(1126-1131)aagaat>aat	p.K376del	MYLK4_ENST00000268446.5_In_Frame_Del_p.K376del	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	376						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAGCCACGATTCTTCTTCTTCT	0.473																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1126-1131)aat>aa		myosin light chain kinase family, member 4																																				SO:0001651	inframe_deletion	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2671572_2671574delTTC		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.1128_1130delGAA	6.37:g.2671581_2671583delTTC	ENSP00000274643:p.Lys376del					MYLK4_ENST00000268446.5_In_Frame_Del_p.KN376del	p.KN376del	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			12	1470_1472	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	376					A2RUC0|Q5TAW2	In_Frame_Del	DEL	ENST00000274643.7	37	c.1128_1130delGAA	CCDS34330.1																																																																																				0.473	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		7	546						7	546	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572795	30572795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30572795delT	ENST00000376511.2	-	11	1482	c.930delA	c.(928-930)aaafs	p.K310fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	310	Interaction with TOX4. {ECO:0000250}.|Poly-Lys.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGACAGTACTTTTTTTTTCT	0.448																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(928-930)aafs		protein phosphatase 1, regulatory subunit 10				101,3157		43,15,1571	48.0	58.0	54.0			5.1	1.0	6		55	200,6182		91,18,3082	no	frameshift	PPP1R10	NM_002714.2		134,33,4653	A1A1,A1R,RR		3.1338,3.1001,3.1224			30572795	301,9339	1509	2708	4217	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572795delT	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.930delA	6.37:g.30572795delT	ENSP00000365694:p.Lys310fs						p.K310fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			11	1482	-			310			Interaction with TOX4 (By similarity).|Poly-Lys.		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.930delA	CCDS4681.1																																																																																				0.448	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		8	329						8	329	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	310						7	310	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086413	144086414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:144086413_144086414insA	ENST00000427704.2	+	6	807_808	c.677_678insA	c.(676-681)tcaaaafs	p.SK226fs	PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.SK237fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.SK214fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.SK146fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.SK157fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	226							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(676-678)taafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086413_144086414insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.685dupA	6.37:g.144086421_144086421dupA	ENSP00000391763:p.Ser226fs					PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs	p.*226fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	807_808	+			226					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.677_678insA	CCDS47492.1																																																																																				0.396	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		8	610						8	610	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125.0	136.0	132.0					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540delT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>-	6.37:g.152539540delT		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37		CCDS5236.2																																																																																				0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	7	862						7	862	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gagaagfs	p.K94fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K94fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K94fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	94	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.5																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(277-282)gaagfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24910452_24910453delTC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.279_280delGA	7.37:g.24910460_24910461delTC	ENSP00000315410:p.Lys94fs					OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs	p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			5	730_731	-			93			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.279_280delGA	CCDS5390.1																																																																																				0.500	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	483						7	483	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		8	58						8	58	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000333891.9	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)cttfs	p.L2116fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAATCTGTAAGAGACGCTCCT	0.436																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6346-6348)tfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583922_82583923delAG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6346_6347delCT	7.37:g.82583924_82583925delAG	ENSP00000334319:p.Leu2116fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.L2116fs	p.L2116fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6683_6684	-			2047						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.6346_6347delCT	CCDS47630.1																																																																																				0.436	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		21	193						21	193	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856464	89856465	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:89856464_89856465insT	ENST00000287908.3	+	3	1065_1066	c.672_673insT	c.(673-675)tttfs	p.F225fs	STEAP2_ENST00000394626.1_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394621.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394622.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000402625.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394632.1_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394629.2_Frame_Shift_Ins_p.F225fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	225					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCTTGGCCACATTTTTTTTCCT	0.391																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(670-675)acttttfs		STEAP family member 2, metalloreductase																																				SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856464_89856465insT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.680dupT	7.37:g.89856472_89856472dupT	ENSP00000287908:p.Phe225fs					STEAP2_ENST00000394629.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394621.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394622.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000402625.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394626.1_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394632.1_Frame_Shift_Ins_p.TF224fs	p.TF224fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1065_1066	+	all_hematologic(106;0.112)		224					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Ins	INS	ENST00000287908.3	37	c.672_673insT	CCDS5615.1																																																																																				0.391	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		7	615						7	615	---	---	---	---
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-	rs368249579	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AACGAAGAGAAGAGAGAGAGAG	0.391														64	0.0127796	0.028	0.0014	5008	,	,		16418	0.004		0.002	False		,,,				2504	0.0204					ENST00000354926.4																			0											c.(742-747)gaagfs						136,3410		1,134,1638						5.1	1.0			34	290,7544		0,290,3627	no	frameshift	LUC7L2	NM_016019.3		1,424,5265	A1A1,A1R,RR		3.7018,3.8353,3.7434				426,10954				SO:0001589	frameshift_variant	0							g.chr7:139094365_139094366delAG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.744_745delAG	7.37:g.139094375_139094376delAG	ENSP00000347005:p.Glu248fs					C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	p.EE248fs	NM_016019.3	NP_057103.2					7	1098_1099	+									Frame_Shift_Del	DEL	ENST00000354926.4	37	c.744_745delAG	CCDS43656.1																																																																																				0.391	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			8	137						8	137	---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																						ENST00000441159.2																			0				endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						c.(1252-1254)cfs		family with sequence similarity 115, member C			,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				SO:0001589	frameshift_variant	285966							g.chr7:143417404_143417405delCT	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs					FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs	p.L418fs			A6NFQ2	F115C_HUMAN			3	1318_1319	+			418					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	ENST00000441159.2	37	c.1252_1253delCT																																																																																					0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		7	11						7	11	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:52733063delT	ENST00000360540.5	-	7	1328	c.922delA	c.(922-924)atgfs	p.M308fs	PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	308						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.373																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(922-924)tgfs		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							102.0	88.0	92.0					8																	52733063		2203	4300	6503	SO:0001589	frameshift_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733063delT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.922delA	8.37:g.52733063delT	ENSP00000353739:p.Met308fs					PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs	p.M308fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1328	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	308					Q96FK9	Frame_Shift_Del	DEL	ENST00000360540.5	37	c.922delA	CCDS6148.1																																																																																				0.373	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		14	482						14	482	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6358-6360)aafs		ubiquitin protein ligase E3 component n-recognin 5							137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289349delT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs					UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	p.K2120fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2120					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	c.6360delA	CCDS34933.1																																																																																				0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	705						7	705	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000452423.2_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34.0	37.0	36.0					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	7	356						7	356	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:116426269_116426270insT	ENST00000220888.5	-	6	3986_3987	c.3827_3828insA	c.(3826-3828)aatfs	p.N1276fs	TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.N1280fs|TRPS1_ENST00000395715.3_Frame_Shift_Ins_p.N1289fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.N1030fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276	Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome																													ENST00000395715.3																			2	Deletion - Frameshift(2)	p.N1289fs*>6(1)|p.N1276fs*>6(1)	lung(2)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3865-3867)aggfs		trichorhinophalangeal syndrome I																																				SO:0001589	frameshift_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426269_116426270insT	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3828dupA	8.37:g.116426276_116426276dupT	ENSP00000220888:p.Asn1276fs					TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs	p.R1289fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	4443_4444	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1276					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Ins	INS	ENST00000220888.5	37	c.3866_3867insA																																																																																					0.381	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		81	632						81	632	---	---	---	---
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		7	410						7	410	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs369721488|rs150805048		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1.0	0.0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		9	274						9	274	---	---	---	---
LRRC37A5P	652972	broad.mit.edu	37	9	114370698	114370698	+	RNA	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:114370698delA	ENST00000374304.1	-	0	506							Q49AS3	L37A5_HUMAN	leucine rich repeat containing 37, member A5, pseudogene																		TTTTAGTGAGAAAAAAAAAAG	0.348																																						ENST00000374304.1																			0																																																			0							g.chr9:114370698delA	BC031236		9q31.3	2012-10-16	2012-03-07	2012-03-07	ENSG00000204173	ENSG00000204173			23369	pseudogene	pseudogene			"""chromosome 9 open reading frame 29"""	C9orf29			Standard	NR_034087		Approved		uc022bly.1	Q49AS3	OTTHUMG00000020494		9.37:g.114370698delA														0	506	-								Q5JVP0	RNA	DEL	ENST00000374304.1	37																																																																																						0.348	LRRC37A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053655.2	NR_034087		2	4						2	4	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																						ENST00000409012.4																			1	Deletion - In frame(1)	p.E315delE(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1840-1845)gaa>ga		taperin																																				SO:0001651	inframe_deletion	286262				sensory perception of sound	stereocilium		g.chr9:140087025_140087027delTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del					TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	p.EE620del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			2	1928_1930	-			620			Glu-rich.		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	ENST00000409012.4	37	c.1842_1844delGGA	CCDS56594.1																																																																																				0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		10	85						10	85	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		10	214						10	214	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	943						8	943	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000393459.1_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(166-168)gcfs		PDZ domain containing 7							49.0	58.0	55.0					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		8	493						8	493	---	---	---	---
ADD3	120	broad.mit.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1999-2001)aafs		adducin 3 (gamma)							51.0	59.0	56.0					10																	111893350		2198	4295	6493	SO:0001589	frameshift_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111893350delA	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs					ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs	p.K669fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2364	+		Breast(234;0.052)|Lung NSC(174;0.223)	701					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	ENST00000356080.4	37	c.1999delA	CCDS7561.1																																																																																				0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		7	571						7	571	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	3'UTR	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:63525788delT	ENST00000377819.5	+	0	3368				C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000354497.4_Frame_Shift_Del_p.A190fs|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000540798.1_3'UTR	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3						apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348																																						ENST00000354497.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(568-570)gcfs		reticulon 3							48.0	49.0	49.0					11																	63525788		2201	4298	6499	SO:0001624	3_prime_UTR_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63525788delT	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.*115T>-	11.37:g.63525788delT						RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000540798.1_3'UTR	p.A190fs	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN			4	634	+			0					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	ENST00000377819.5	37	c.570delT	CCDS58141.1																																																																																				0.348	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		9	331						9	331	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)gaafs	p.E869fs	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	869	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCGATGGTTTCCACCTGTGGA	0.433																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2605-2607)aafs		guanylate cyclase 2C (heat stable enterotoxin receptor)							168.0	153.0	158.0					12																	14774147		2203	4300	6503	SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14774147delC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2605delG	12.37:g.14774147delC	ENSP00000261170:p.Glu869fs						p.E869fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			23	2741	-			869			Guanylate cyclase.		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	c.2605delG	CCDS8664.1																																																																																				0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			31	390						31	390	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																						ENST00000442789.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(3097-3099)aggfs		myosin IA																																				SO:0001589	frameshift_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422572_57422573insT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs					MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			29	3385_3386	-			1033					Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	c.3098_3099insA	CCDS8929.1																																																																																				0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		8	615						8	615	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72038670	72038670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:72038670delT	ENST00000378743.3	-	4	1624	c.1266delA	c.(1264-1266)aaafs	p.K422fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	422					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TAGTGCTAACTTTTTTGGCCG	0.333																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1264-1266)aafs		zinc finger, C3H1-type containing							194.0	175.0	181.0					12																	72038670		1823	4090	5913	SO:0001589	frameshift_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72038670delT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1266delA	12.37:g.72038670delT	ENSP00000368017:p.Lys422fs						p.K422fs	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			4	1624	-			422					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	c.1266delA	CCDS41813.1																																																																																				0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	766						7	766	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3001-3003)del		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)																																				SO:0001651	inframe_deletion	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120595737_120595739delCTC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3001_3003delGAG	12.37:g.120595746_120595748delCTC	ENSP00000300648:p.Glu1001del						p.E1001del	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			26	3013_3015	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1001					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	In_Frame_Del	DEL	ENST00000300648.6	37	c.3001_3003delGAG	CCDS41847.1																																																																																				0.631	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			8	302						8	302	---	---	---	---
STX2	2054	broad.mit.edu	37	12	131285957	131285958	+	Splice_Site	DEL	CA	CA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131285957_131285958delCA	ENST00000392373.2	-	7	632		c.e7+1		STX2_ENST00000261653.6_Splice_Site	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CACCCCCACTCACGTCGGAAGT	0.505																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.e7+1		syntaxin 2																																				SO:0001630	splice_region_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131285957_131285958delCA	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.537+1TG>-	12.37:g.131285957_131285958delCA						STX2_ENST00000392373.2_Splice_Site		NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	7	704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)							Q86VW8	Splice_Site	DEL	ENST00000392373.2	37		CCDS9270.1																																																																																				0.505	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356	Intron	13	312						13	312	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			15	524						15	524	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-	rs535011015		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)attfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2545-2547)ttfs		protein tyrosine phosphatase, non-receptor type 21							181.0	171.0	175.0					14																	88940113		2203	4300	6503	SO:0001589	frameshift_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940113delT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2545delA	14.37:g.88940113delT	ENSP00000452414:p.Ile849fs					PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2829	-			849						Frame_Shift_Del	DEL	ENST00000556564.1	37	c.2545delA	CCDS9884.1																																																																																				0.393	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			11	554						11	554	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		12	150						12	150	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25328849	25328850	+	RNA	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:25328849_25328850delAG	ENST00000546682.1	+	0	320				SNHG14_ENST00000553108.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATCAGGGGCTAGAGAGAGAGAC	0.46																																						ENST00000546682.1																			0																																																			0							g.chr15:25328849_25328850delAG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328857_25328858delAG						SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	320	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.460	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			7	1015						7	1015	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:19580800_19580802delTCC	ENST00000251143.5	+	3	184_186	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000438132.3_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(439-441)del		chromosome 16 open reading frame 62																																				SO:0001651	inframe_deletion	57020					integral to membrane		g.chr16:19580800_19580802delTCC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.172_174delTCC	16.37:g.19580809_19580811delTCC	ENSP00000251143:p.Ser64del					C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del	p.S153del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			3	487_489	+			64					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	In_Frame_Del	DEL	ENST00000251143.5	37	c.439_441delTCC																																																																																					0.562	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		7	244						7	244	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	1138						7	1138	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2905-2907)del		TAO kinase 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del	p.L974del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3948_3950	+			974			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	282						9	282	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67267852	67267852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:67267852delG	ENST00000258201.4	-	13	2001	c.1754delC	c.(1753-1755)cctfs	p.P587fs		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	587	FH1.|Poly-Pro.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.P585fs*43(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAGTGGGGGAGGGGGGGGTAC	0.622																																						ENST00000258201.4																			1	Deletion - Frameshift(1)	p.P585fs*43(1)	breast(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1753-1755)ctfs		formin homology 2 domain containing 1				50,48,4008		3,0,44,3,42,1961	9.0	11.0	11.0			1.3	1.0	16		10	110,94,7566		4,1,101,4,85,3690	no	codingComplex	FHOD1	NM_013241.2		7,1,145,7,127,5651	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6255,2.3868,2.5429			67267852	160,142,11574	2155	4160	6315	SO:0001589	frameshift_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67267852delG	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1754delC	16.37:g.67267852delG	ENSP00000258201:p.Pro587fs					FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs	p.P587fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	13	2001	-		Ovarian(137;0.0563)	587			FH1.|Poly-Pro.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Frame_Shift_Del	DEL	ENST00000258201.4	37	c.1754delC	CCDS10834.1																																																																																				0.622	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			11	86						11	86	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		7	336						7	336	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acafs	p.T204fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	204					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCACCACTGTCATTAGGA	0.592																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(610-612)acfs		ring finger protein 43							111.0	93.0	99.0					17																	56439980		2203	4300	6503	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439980delT		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.612delA	17.37:g.56439980delT	ENSP00000463069:p.Thr204fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs	p.T204fs			Q68DV7	RNF43_HUMAN			5	2567	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		204					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.612delA	CCDS11607.1																																																																																				0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		47	320						47	320	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			12	424						12	424	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	296						9	296	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		14	335						14	335	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-	rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000342988.3	+	9	1609_1617	c.1071_1079delTGGAGGAGA	c.(1069-1080)tctggaggagat>tct	p.GGD358del	SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del|SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	358	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411																																						ENST00000342988.3																			42	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2)	p.0?(36)|p.G358*(4)|p.?(2)	pancreas(29)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1069-1080)tct>tc		SMAD family member 4																																				SO:0001651	inframe_deletion	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591908_48591916delTGGAGGAGA	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1071_1079delTGGAGGAGA	18.37:g.48591908_48591916delTGGAGGAGA	ENSP00000341551:p.Gly358_Asp360del					SMAD4_ENST00000588745.1_In_Frame_Del_p.SGGD261del|SMAD4_ENST00000398417.2_In_Frame_Del_p.SGGD357del	p.SGGD357del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1609_1617	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	357			MH2.		A8K405	In_Frame_Del	DEL	ENST00000342988.3	37	c.1071_1079delTGGAGGAGA	CCDS11950.1																																																																																				0.411	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		32	304						32	304	---	---	---	---
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cagcgg>cgg	p.Q139del		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(415-420)cgg>c		growth arrest and DNA-damage-inducible, gamma interacting protein 1																																				SO:0001651	inframe_deletion	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065273_13065275delGCT	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.416_418delAGC	19.37:g.13065282_13065284delGCT	ENSP00000323065:p.Gln139del						p.QR139del	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	439_441	-			139			Poly-Gln.		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	In_Frame_Del	DEL	ENST00000316939.1	37	c.416_418delAGC	CCDS12290.1																																																																																				0.635	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		7	468						7	468	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	CTD-3148I10.15_ENST00000595815.1_RNA|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			9	275						9	275	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581679	17581680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:17581679_17581680insT	ENST00000246069.7	+	2	646_647	c.300_301insT	c.(301-303)tttfs	p.F101fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.F84fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	101	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(298-303)atttttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581679_17581680insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.308dupT	20.37:g.17581687_17581687dupT	ENSP00000246069:p.Phe101fs					DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs|DSTN_ENST00000474024.1_3'UTR	p.IF100fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	646_647	+			100			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.300_301insT	CCDS13127.1																																																																																				0.356	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		8	491						8	491	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			0							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	3						3	3	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		9	156						9	156	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		8	212						8	212	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		11	68						11	68	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73072090	73072091	+	lincRNA	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73072090_73072091insA	ENST00000429829.1	-	0	497_498					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATGGGCTAAGGAAAAAAAAATA	0.465																																						ENST00000429829.1																			0																																																			0							g.chrX:73072090_73072091insA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73072099_73072099dupA								NR_001564.2						0	497_498	-									RNA	INS	ENST00000429829.1	37																																																																																						0.465	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		7	139						7	139	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:107430450delT	ENST00000372216.4	-	23	1930	c.1830delA	c.(1828-1830)aaafs	p.K610fs	COL4A6_ENST00000394872.2_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1828-1830)aafs		collagen, type IV, alpha 6							127.0	118.0	121.0					X																	107430450		2203	4300	6503	SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107430450delT	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1830delA	X.37:g.107430450delT	ENSP00000361290:p.Lys610fs					COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs	p.K610fs			Q14031	CO4A6_HUMAN			23	2061	-			610			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	37	c.1830delA	CCDS14541.1																																																																																				0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			9	947						9	947	---	---	---	---
