#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
GPR32	2854	broad.mit.edu	37	19	51273918	51273918	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr19:51273918C>T	ENST00000270590.4	+	1	198	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	21					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R21C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGTCCTGACACGTGATCGCTC	0.522																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			1	Substitution - Missense(1)	p.R21C(1)	prostate(1)	breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(61-63)Cgt>Tgt		G protein-coupled receptor 32							85.0	68.0	74.0					19																	51273918		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51273918C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.61C>T	19.37:g.51273918C>T	ENSP00000270590:p.Arg21Cys						p.R21C	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	198	+		all_neural(266;0.131)	21					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.61C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	8.311	0.822183	0.16678	.	.	ENSG00000142511	ENST00000270590	T	0.31510	1.49	1.71	-0.602	0.11634	.	.	.	.	.	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	P	0.43477	0.808	B	0.34452	0.183	T	0.14364	-1.0475	9	0.56958	D	0.05	.	4.2852	0.10851	0.0:0.4517:0.0:0.5483	.	21	O75388	GPR32_HUMAN	C	21	ENSP00000270590:R21C	ENSP00000270590:R21C	R	+	1	0	GPR32	55965730	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.259000	0.08721	-0.238000	0.09724	0.313000	0.20887	CGT		0.522	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			15	44	0	0	0	1	0	15	44				
BCL6	604	broad.mit.edu	37	3	187447543	187447543	+	Missense_Mutation	SNP	C	C	T	rs142220629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:187447543C>T	ENST00000406870.2	-	5	1016	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	217					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CACAGGCATCCGGACATCCCG	0.612			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		1	Substitution - Missense(1)	p.R217Q(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(649-651)cGg>cAg		B-cell CLL/lymphoma 6		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	43.0	43.0	43.0		650,650,650	5.4	1.0	3	dbSNP_134	43	0,8600		0,0,4300	no	missense,missense,missense	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	217/707,217/651,217/707	187447543	2,13004	2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447543C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.650G>A	3.37:g.187447543C>T	ENSP00000384371:p.Arg217Gln					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q	p.R217Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1016	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		217					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.650G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994786	0.54041	4.54E-4	0.0	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.12	5.41	5.41	0.78517	.	0.102064	0.64402	D	0.000004	T	0.12902	0.0313	N	0.16478	0.41	0.37023	D	0.896294	B;D	0.64830	0.052;0.994	B;D	0.64042	0.006;0.921	T	0.14839	-1.0458	10	0.38643	T	0.18	.	12.0196	0.53336	0.0:0.9208:0.0:0.0792	.	217;217	B8PSA7;P41182	.;BCL6_HUMAN	Q	217	ENSP00000384371:R217Q;ENSP00000232014:R217Q;ENSP00000413122:R217Q	ENSP00000232014:R217Q	R	-	2	0	BCL6	188930237	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.424000	0.59868	2.729000	0.93468	0.556000	0.70494	CGG		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		20	51	0	0	0	1	0	20	51				
ZFYVE16	9765	broad.mit.edu	37	5	79752812	79752812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr5:79752812G>A	ENST00000338008.5	+	13	4024	c.3844G>A	c.(3844-3846)Gca>Aca	p.A1282T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1282					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.A1282T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAGCATTGGAGCAAGTTTCAG	0.343																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			1	Substitution - Missense(1)	p.A1282T(1)	prostate(1)	breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3844-3846)Gca>Aca		zinc finger, FYVE domain containing 16							87.0	83.0	84.0					5																	79752812		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79752812G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3844G>A	5.37:g.79752812G>A	ENSP00000337159:p.Ala1282Thr					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T	p.A1282T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	13	4024	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1282					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3844G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415002	0.96092	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49139	0.79;0.79;0.79	5.9	5.9	0.94986	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000025	T	0.68118	0.2966	M	0.71036	2.16	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.62560	0.904;0.864	T	0.69420	-0.5150	10	0.87932	D	0	-8.402	19.8771	0.96880	0.0:0.0:1.0:0.0	.	92;1282	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	T	1282	ENSP00000337159:A1282T;ENSP00000423663:A1282T;ENSP00000426848:A1282T	ENSP00000337159:A1282T	A	+	1	0	ZFYVE16	79788568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.609000	0.98334	2.786000	0.95864	0.563000	0.77884	GCA		0.343	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		21	42	0	0	0	1	0	21	42				
GUCY1A2	2977	broad.mit.edu	37	11	106558447	106558447	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr11:106558447G>A	ENST00000526355.2	-	8	2495	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.P676L(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ACGAGACCGCGGAATGAATGT	0.418																																						ENST00000526355.1																			2	Substitution - Missense(2)	p.P676L(2)	prostate(2)	breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2026-2028)cCg>cTg		guanylate cyclase 1, soluble, alpha 2							95.0	98.0	97.0					11																	106558447		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558447G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2027C>T	11.37:g.106558447G>A	ENSP00000431245:p.Pro676Leu					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L	p.P676L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2495	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	676					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2027C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375737	0.82682	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.80566	-1.39;-1.39;-1.39	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.44902	U	0.000403	D	0.87807	0.6270	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.867;1.0	D;B;D	0.97110	1.0;0.329;1.0	D	0.84572	0.0656	10	0.27785	T	0.31	.	18.7903	0.91971	0.0:0.0:1.0:0.0	.	697;707;676	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	676;707;697	ENSP00000431245:P676L;ENSP00000282249:P707L;ENSP00000344874:P697L	ENSP00000282249:P707L	P	-	2	0	GUCY1A2	106063657	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.340000	0.97038	2.762000	0.94881	0.467000	0.42956	CCG		0.418	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			63	134	0	0	0	1	0	63	134				
ACTBL2	345651	broad.mit.edu	37	5	56778328	56778328	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr5:56778328C>A	ENST00000423391.1	-	1	308	c.207G>T	c.(205-207)aaG>aaT	p.K69N	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	69						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.K69N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CGATAGGATACTTCAGGGTCA	0.547																																						ENST00000423391.1																			1	Substitution - Missense(1)	p.K69N(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(205-207)aaG>aaT		actin, beta-like 2							105.0	82.0	90.0					5																	56778328		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778328C>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.207G>T	5.37:g.56778328C>A	ENSP00000416706:p.Lys69Asn					CTD-2023N9.1_ENST00000506106.1_RNA	p.K69N	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	308	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	69					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.207G>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978830	0.18812	.	.	ENSG00000169067	ENST00000423391	D	0.90676	-2.71	4.78	2.05	0.26809	.	0.075099	0.49916	D	0.000121	D	0.89822	0.6826	M	0.73217	2.22	0.44469	D	0.997403	B	0.31054	0.306	B	0.40165	0.321	D	0.86018	0.1505	10	0.87932	D	0	.	7.6023	0.28083	0.0:0.7185:0.0:0.2815	.	69	Q562R1	ACTBL_HUMAN	N	69	ENSP00000416706:K69N	ENSP00000416706:K69N	K	-	3	2	ACTBL2	56814085	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.238000	0.51352	0.242000	0.21303	0.563000	0.77884	AAG		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		21	42	1	0	1.64293e-13	1	1.68401e-13	21	42				
EML4	27436	broad.mit.edu	37	2	42543187	42543187	+	Missense_Mutation	SNP	A	A	T	rs374261901		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:42543187A>T	ENST00000318522.5	+	18	2315	c.2053A>T	c.(2053-2055)Ata>Tta	p.I685L	EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Missense_Mutation_p.I627L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	685					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.I685L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCGCTACTCAATAGGTAGGCA	0.423			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	1	Substitution - Missense(1)	p.I685L(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2053-2055)Ata>Tta		echinoderm microtubule associated protein like 4							80.0	77.0	78.0					2																	42543187		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42543187A>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2053A>T	2.37:g.42543187A>T	ENSP00000320663:p.Ile685Leu					EML4_ENST00000402711.2_Missense_Mutation_p.I627L|EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron	p.I685L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			18	2315	+			685					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2053A>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252229	0.80135	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56103	0.48;0.48;0.48	5.98	-4.24	0.03777	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.554233	0.20197	N	0.097198	T	0.25901	0.0631	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.06023	-1.0850	10	0.72032	D	0.01	-0.0492	4.078	0.09912	0.398:0.0925:0.4155:0.094	.	627;627;696;685	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	L	685;627;696	ENSP00000320663:I685L;ENSP00000385059:I627L;ENSP00000384939:I696L	ENSP00000320663:I685L	I	+	1	0	EML4	42396691	0.912000	0.30974	0.096000	0.21009	0.994000	0.84299	0.528000	0.23002	-0.711000	0.04995	0.482000	0.46254	ATA		0.423	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		34	75	0	0	0	1	0	34	75				
MUC3A	4584	broad.mit.edu	37	7	100607821	100607821	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:100607821G>A	ENST00000319509.7	+	5	1968	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2321	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.E656E(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCGAGTATGAGCAGGTGAAGA	0.637																																						ENST00000319509.7																			2	Substitution - coding silent(2)	p.E656E(2)	prostate(2)	breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1966-1968)gaG>gaA		mucin 3A, cell surface associated							117.0	104.0	108.0					7																	100607821		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100607821G>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1968G>A	7.37:g.100607821G>A						RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA	p.E656E							5	1968	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.1968G>A																																																																																					0.637	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		17	130	0	0	0	1	0	17	130				
KLHDC7B	113730	broad.mit.edu	37	22	50987891	50987891	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr22:50987891G>A	ENST00000395676.2	+	1	1430	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432								p.A333A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCACGCGCGCCACTCCCCG	0.672																																						ENST00000395676.2																			1	Substitution - coding silent(1)	p.A333A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1294-1296)gcG>gcA		kelch domain containing 7B							73.0	75.0	74.0					22																	50987891		2201	4298	6499	SO:0001819	synonymous_variant	113730							g.chr22:50987891G>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1296G>A	22.37:g.50987891G>A							p.A432A	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1430	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	432						Silent	SNP	ENST00000395676.2	37	c.1296G>A	CCDS14097.2																																																																																				0.672	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		51	116	0	0	0	1	0	51	116				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	71	0	0	0	1	0	9	71				
KIAA1210	57481	broad.mit.edu	37	X	118238971	118238971	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chrX:118238971C>A	ENST00000402510.2	-	7	1051	c.1052G>T	c.(1051-1053)aGt>aTt	p.S351I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	351										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CGCTGTCAAACTCTTATGTGG	0.418																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1051-1053)aGt>aTt		KIAA1210							151.0	146.0	147.0					X																	118238971		1899	4118	6017	SO:0001583	missense	57481							g.chrX:118238971C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1052G>T	X.37:g.118238971C>A	ENSP00000384670:p.Ser351Ile						p.S351I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			7	1051	-			351					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1052G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	3.741	-0.053525	0.07362	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10960	2.82	4.55	-3.46	0.04767	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	9	0.02654	T	1	.	0.9924	0.01459	0.367:0.2997:0.1892:0.1441	.	351	Q9ULL0	K1210_HUMAN	I	351;187	ENSP00000384670:S351I	ENSP00000396164:S187I	S	-	2	0	RP13-347D8.5;RP13-347D8.6	118122999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-0.884000	0.03976	-0.474000	0.04947	AGT		0.418	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		9	195	1	0	0.000673444	1	0.000673444	9	195				
KIAA1467	57613	broad.mit.edu	37	12	13208628	13208628	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:13208628G>A	ENST00000197268.8	+	2	301	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral component of membrane (GO:0016021)		p.D61N(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCAGAACCCGACTCAGATGC	0.557																																						ENST00000197268.8																			1	Substitution - Missense(1)	p.D61N(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(181-183)Gac>Aac		KIAA1467							65.0	63.0	64.0					12																	13208628		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208628G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.181G>A	12.37:g.13208628G>A	ENSP00000197268:p.Asp61Asn						p.D61N	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	301	+		Prostate(47;0.184)	61					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.181G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234312	0.58886	.	.	ENSG00000084444	ENST00000197268	T	0.25579	1.79	5.35	5.35	0.76521	.	0.160733	0.53938	D	0.000041	T	0.41073	0.1143	M	0.62723	1.935	0.39430	D	0.967069	D	0.69078	0.997	P	0.56751	0.805	T	0.31364	-0.9946	10	0.52906	T	0.07	-11.622	12.4301	0.55569	0.0766:0.0:0.9234:0.0	.	61	A2RU67	K1467_HUMAN	N	61	ENSP00000197268:D61N	ENSP00000197268:D61N	D	+	1	0	KIAA1467	13099895	1.000000	0.71417	0.947000	0.38551	0.132000	0.20833	4.306000	0.59117	2.499000	0.84300	0.603000	0.83216	GAC		0.557	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		47	86	0	0	0	1	0	47	86				
PLCH1	23007	broad.mit.edu	37	3	155206588	155206588	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:155206588G>A	ENST00000340059.7	-	19	2363	c.2364C>T	c.(2362-2364)aaC>aaT	p.N788N	PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000334686.6_Silent_p.N770N|PLCH1_ENST00000460012.1_Silent_p.N770N|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Silent_p.N788N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	788	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.N770N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCACACAGGGTTAAATCCTC	0.428																																						ENST00000460012.1																			1	Substitution - coding silent(1)	p.N770N(1)	prostate(1)	NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2308-2310)aaC>aaT		phospholipase C, eta 1							90.0	84.0	86.0					3																	155206588		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206588G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2364C>T	3.37:g.155206588G>A						PLCH1_ENST00000447496.2_Silent_p.N788N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000340059.7_Silent_p.N788N|PLCH1_ENST00000334686.6_Silent_p.N770N	p.N770N			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		20	2667	-			788			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2310C>T	CCDS46939.1																																																																																				0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		22	46	0	0	0	1	0	22	46				
HPGD	3248	broad.mit.edu	37	4	175416699	175416699	+	Splice_Site	SNP	C	C	A	rs200828629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:175416699C>A	ENST00000296522.6	-	5	944	c.498G>T	c.(496-498)gcG>gcT	p.A166A	HPGD_ENST00000510901.1_Splice_Site_p.A45A|HPGD_ENST00000541923.1_Splice_Site_p.A45A|HPGD_ENST00000422112.2_Splice_Site_p.A98A|HPGD_ENST00000296521.7_Splice_Site_p.A166A|HPGD_ENST00000542498.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	166					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.A166A(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		GTAGCCTCACCGCTGCTGAGC	0.408																																						ENST00000296522.6																			1	Substitution - coding silent(1)	p.A166A(1)	prostate(1)	kidney(1)|lung(3)|prostate(3)	7						c.e5+1		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						91.0	81.0	85.0					4																	175416699		2203	4300	6503	SO:0001630	splice_region_variant	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175416699C>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.498+1G>T	4.37:g.175416699C>A						HPGD_ENST00000510901.1_Splice_Site_p.A45_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000422112.2_Splice_Site_p.A98_splice|HPGD_ENST00000296521.7_Splice_Site_p.A166_splice|HPGD_ENST00000541923.1_Splice_Site_p.A45_splice	p.A166_splice	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	5	944	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	166					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Splice_Site	SNP	ENST00000296522.6	37	c.498_splice	CCDS3821.1																																																																																				0.408	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3		Silent	39	51	1	0	9.39024e-22	1	1.01316e-21	39	51				
SSH1	54434	broad.mit.edu	37	12	109192926	109192926	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:109192926G>A	ENST00000326495.5	-	13	1292	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	SSH1_ENST00000360239.3_Missense_Mutation_p.S88L|SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	400	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTGGAGGCCGAGCGACTCAC	0.557																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1198-1200)tCg>tTg		slingshot protein phosphatase 1							57.0	53.0	54.0					12																	109192926		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109192926G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1199C>T	12.37:g.109192926G>A	ENSP00000315713:p.Ser400Leu					SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L|SSH1_ENST00000360239.3_Missense_Mutation_p.S88L	p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			13	1292	-			400			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1199C>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739850	0.69304	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.72942	0.84;-0.7;-0.7;-0.7	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	H	0.99838	4.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;1.0;0.999	D	0.95836	0.8862	10	0.87932	D	0	-19.0027	19.2929	0.94110	0.0:0.0:1.0:0.0	.	411;400;400;88	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	L	88;400;400;411	ENSP00000353374:S88L;ENSP00000315713:S400L;ENSP00000448824:S400L;ENSP00000326107:S411L	ENSP00000326107:S411L	S	-	2	0	SSH1	107717055	1.000000	0.71417	0.068000	0.19968	0.095000	0.18619	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	TCG		0.557	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	37	0	0	0	1	0	6	37				
BAGE2	85319	broad.mit.edu	37	21	11047499	11047499	+	RNA	SNP	G	G	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr21:11047499G>T	ENST00000470054.1	-	0	755							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAGCCGTTGGTTGGTACAG	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047499G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047499G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	755	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		42	572	1	0	3.76604e-16	1	3.95917e-16	42	572				
SCN5A	6331	broad.mit.edu	37	3	38627292	38627292	+	Missense_Mutation	SNP	G	G	A	rs199473171		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:38627292G>A	ENST00000333535.4	-	16	2826	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	893					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R893C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGAGGATGCGGAAGATGATG	0.547																																						ENST00000413689.1																			2	Substitution - Missense(2)	p.R893C(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2677-2679)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						149.0	146.0	147.0					3																	38627292		2201	4300	6501	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38627292G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2677C>T	3.37:g.38627292G>A	ENSP00000328968:p.Arg893Cys					SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C	p.R893C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2870	-	Medulloblastoma(35;0.163)		893					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2677C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759321	0.69763	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.17	4.17	0.49024	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.99011	4.4	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.995;0.959;0.999;0.978	D	0.97617	1.0133	10	0.87932	D	0	.	16.6604	0.85239	0.0:0.0:1.0:0.0	.	893;893;893;893;893;893;893	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	893	ENSP00000398962:R893C;ENSP00000398266:R893C;ENSP00000410257:R893C;ENSP00000388797:R893C;ENSP00000397915:R893C;ENSP00000416634:R893C;ENSP00000328968:R893C;ENSP00000399524:R893C;ENSP00000403355:R893C;ENSP00000413996:R893C	ENSP00000328968:R893C	R	-	1	0	SCN5A	38602296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.207000	0.72159	2.169000	0.68431	0.462000	0.41574	CGC		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	221	0	0	0	1	0	9	221				
MED13L	23389	broad.mit.edu	37	12	116446812	116446812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:116446812G>A	ENST00000281928.3	-	10	1612	c.1406C>T	c.(1405-1407)aCa>aTa	p.T469I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	469						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T469I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTTCTGCTGTTTTGTGCTT	0.478																																						ENST00000281928.3																			1	Substitution - Missense(1)	p.T469I(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1405-1407)aCa>aTa		mediator complex subunit 13-like							262.0	254.0	257.0					12																	116446812		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446812G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1406C>T	12.37:g.116446812G>A	ENSP00000281928:p.Thr469Ile						p.T469I	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1612	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		469					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1406C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861423	0.51482	.	.	ENSG00000123066	ENST00000281928	T	0.74947	-0.89	5.76	5.76	0.90799	.	0.150133	0.64402	D	0.000013	T	0.69223	0.3087	L	0.52573	1.65	0.39788	D	0.972392	B	0.02656	0.0	B	0.06405	0.002	T	0.65261	-0.6211	10	0.41790	T	0.15	.	14.1668	0.65483	0.0713:0.0:0.9286:0.0	.	469	Q71F56	MD13L_HUMAN	I	469	ENSP00000281928:T469I	ENSP00000281928:T469I	T	-	2	0	MED13L	114931195	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.335000	0.59298	2.732000	0.93576	0.655000	0.94253	ACA		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			101	145	0	0	0	1	0	101	145				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	64	0	0	0	1	0	4	64				
ASB1	51665	broad.mit.edu	37	2	239344476	239344476	+	Missense_Mutation	SNP	C	C	G	rs553675559		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:239344476C>G	ENST00000264607.4	+	3	563	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	106					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGAGGTGGATCTGGTGGACGT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.0					ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(316-318)Ctg>Gtg		ankyrin repeat and SOCS box containing 1							63.0	59.0	61.0					2																	239344476		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344476C>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.316C>G	2.37:g.239344476C>G	ENSP00000264607:p.Leu106Val					ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	p.L106V	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	563	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	106					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.316C>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850296	0.51270	.	.	ENSG00000065802	ENST00000264607	T	0.53206	0.63	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	N	0.26092	0.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.53514	-0.8428	10	0.30854	T	0.27	.	19.5671	0.95398	0.0:1.0:0.0:0.0	.	106	Q9Y576	ASB1_HUMAN	V	106	ENSP00000264607:L106V	ENSP00000264607:L106V	L	+	1	2	ASB1	239009215	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.378000	0.52432	2.629000	0.89072	0.650000	0.86243	CTG		0.632	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		6	104	0	0	0	1	0	6	104				
COL22A1	169044	broad.mit.edu	37	8	139662012	139662012	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:139662012T>C	ENST00000303045.6	-	46	3789	c.3343A>G	c.(3343-3345)Aat>Gat	p.N1115D	COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1115	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.N1115D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCAGTCATTGCACACATCC	0.532										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.N1115D(1)	prostate(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3343-3345)Aat>Gat		collagen, type XXII, alpha 1							53.0	50.0	51.0					8																	139662012		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139662012T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3343A>G	8.37:g.139662012T>C	ENSP00000303153:p.Asn1115Asp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR	p.N1115D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3789	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1115			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3343A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750647	0.15778	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96300	-3.97;-3.97	4.95	2.5	0.30297	.	0.455288	0.18179	U	0.149191	D	0.89181	0.6642	N	0.20483	0.58	0.23010	N	0.998437	B;B	0.19817	0.027;0.039	B;B	0.19391	0.025;0.011	T	0.76482	-0.2943	10	0.11182	T	0.66	.	5.5468	0.17069	0.0:0.094:0.1762:0.7298	.	1095;1115	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	D	1115;1095;808	ENSP00000303153:N1115D;ENSP00000387655:N1095D	ENSP00000303153:N1115D	N	-	1	0	COL22A1	139731194	0.943000	0.32029	0.898000	0.35279	0.702000	0.40608	1.417000	0.34770	0.685000	0.31468	0.379000	0.24179	AAT		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		27	31	0	0	0	1	0	27	31				
GSTT1	2952	broad.mit.edu	37	22	24384213	24384213	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr22:24384213G>A	ENST00000248935.5	-	1	71	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		7	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.L7L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AGCAGGTCCAGGTACAGCTCC	0.587									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			1	Substitution - coding silent(1)	p.L7L(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(19-21)Ctg>Ttg		glutathione S-transferase theta 1	Glutathione(DB00143)						72.0	68.0	69.0					22																	24384213		1703	3600	5303	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24384213G>A																												ENST00000248935.5:c.19C>T	22.37:g.24384213G>A						GSTT1_ENST00000439996.2_5'UTR	p.L7L	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			1	71	-			7			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.19C>T	CCDS13822.1																																																																																				0.587	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			58	81	0	0	0	1	0	58	81				
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10.0	10.0	10.0					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		3	3	0	0	0	1	0	3	3				
LRP1B	53353	broad.mit.edu	37	2	141680622	141680622	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:141680622T>G	ENST00000389484.3	-	21	4202	c.3231A>C	c.(3229-3231)aaA>aaC	p.K1077N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1077	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.K1077N(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)		CTTCACAGTCTTTTTCTCCAT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.K1077N(1)	prostate(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.(3229-3231)aaA>aaC		low density lipoprotein receptor-related protein 1B							208.0	183.0	191.0					2																	141680622		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680622T>G	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.3231A>C	2.37:g.141680622T>G	ENSP00000374135:p.Lys1077Asn	TSP Lung(27;0.18)					p.K1077N	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)	21	4202	-		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)	1077			LDL-receptor class A 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3231A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254827	0.39896	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95137	-3.62;-3.62	5.19	0.324	0.15898	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.89726	0.6798	N	0.03281	-0.365	0.45477	D	0.998441	B;D	0.69078	0.254;0.997	B;D	0.72075	0.143;0.976	D	0.83422	0.0033	10	0.15066	T	0.55	.	8.9047	0.35517	0.0:0.6063:0.0:0.3937	.	260;1077	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1077;1015;222	ENSP00000374135:K1077N;ENSP00000413239:K222N	ENSP00000374135:K1077N	K	-	3	2	LRP1B	141397092	0.998000	0.40836	0.974000	0.42286	0.954000	0.61252	0.456000	0.21859	0.037000	0.15575	0.455000	0.32223	AAA		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		47	113	0	0	0	1	0	47	113				
BAZ2B	29994	broad.mit.edu	37	2	160287661	160287661	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:160287661T>C	ENST00000392783.2	-	10	2402	c.1907A>G	c.(1906-1908)gAt>gGt	p.D636G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	636	Asp/Glu-rich (acidic).				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.D636G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAATTACTATCTGATTCTGG	0.343																																						ENST00000392783.2																			1	Substitution - Missense(1)	p.D636G(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1906-1908)gAt>gGt		bromodomain adjacent to zinc finger domain, 2B							106.0	93.0	97.0					2																	160287661		1838	4086	5924	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287661T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1907A>G	2.37:g.160287661T>C	ENSP00000376534:p.Asp636Gly					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	p.D636G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			10	2402	-			636			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1907A>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265777	0.59540	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.21543	2.0;2.0;2.0	5.76	5.76	0.90799	.	0.000000	0.37955	U	0.001870	T	0.32941	0.0846	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;P	0.68765	0.96;0.942;0.877	T	0.03945	-1.0990	10	0.37606	T	0.19	-16.2577	16.0663	0.80878	0.0:0.0:0.0:1.0	.	440;634;636	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	G	634;636;636	ENSP00000376533:D634G;ENSP00000376534:D636G;ENSP00000348087:D636G	ENSP00000348087:D636G	D	-	2	0	BAZ2B	159995907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.597000	0.74118	2.196000	0.70406	0.533000	0.62120	GAT		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			16	34	0	0	0	1	0	16	34				
LAMC1	3915	broad.mit.edu	37	1	183077436	183077436	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:183077436G>A	ENST00000258341.4	+	3	1006	c.749G>A	c.(748-750)aGa>aAa	p.R250K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	250	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R250K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACTGACATCAGAGTAACTCTT	0.378																																						ENST00000258341.4																			2	Substitution - Missense(2)	p.R250K(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(748-750)aGa>aAa		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	134.0	136.0					1																	183077436		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183077436G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.749G>A	1.37:g.183077436G>A	ENSP00000258341:p.Arg250Lys						p.R250K	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			3	1006	+			250			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.749G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730755	0.48939	.	.	ENSG00000135862	ENST00000258341	D	0.83914	-1.78	4.43	4.43	0.53597	Laminin, N-terminal (3);	0.049079	0.85682	D	0.000000	T	0.79311	0.4424	L	0.39397	1.21	0.51233	D	0.999916	B	0.27166	0.17	B	0.30029	0.11	T	0.79011	-0.1977	10	0.59425	D	0.04	.	17.421	0.87515	0.0:0.0:1.0:0.0	.	250	P11047	LAMC1_HUMAN	K	250	ENSP00000258341:R250K	ENSP00000258341:R250K	R	+	2	0	LAMC1	181344059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.503000	0.60407	2.179000	0.69175	0.467000	0.42956	AGA		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		15	106	0	0	0	1	0	15	106				
DST	667	broad.mit.edu	37	6	56417898	56417898	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:56417898C>T	ENST00000361203.3	-	57	15066	c.15059G>A	c.(15058-15060)aGc>aAc	p.S5020N	DST_ENST00000244364.6_Missense_Mutation_p.S2608N|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000370754.5_Missense_Mutation_p.S5200N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N			Q03001	DYST_HUMAN	dystonin	5020					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S2608N(1)|p.S5022N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGCAAGCTATTGGCTGT	0.413																																						ENST00000370754.5																			2	Substitution - Missense(2)	p.S2608N(1)|p.S5022N(1)	prostate(2)	NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15598-15600)aGc>aAc		dystonin							144.0	143.0	143.0					6																	56417898		1883	4131	6014	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417898C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15059G>A	6.37:g.56417898C>T	ENSP00000354508:p.Ser5020Asn					DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N|DST_ENST00000361203.3_Missense_Mutation_p.S5020N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000244364.6_Missense_Mutation_p.S2608N	p.S5200N			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15598	-	Lung NSC(77;0.103)		5020					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15599G>A		.	.	.	.	.	.	.	.	.	.	C	10.30	1.311194	0.23821	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.76	4.88	0.63580	.	0.092777	0.46442	D	0.000281	T	0.16557	0.0398	L	0.43701	1.375	0.24560	N	0.993971	P;B;B;B;B	0.44429	0.835;0.009;0.402;0.002;0.016	B;B;B;B;B	0.40199	0.322;0.019;0.17;0.002;0.028	T	0.03413	-1.1039	9	0.20046	T	0.44	.	11.9901	0.53169	0.0:0.8073:0.124:0.0687	.	2934;5022;5200;5020;2608	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2608;5200;5022;2934;4696;2934;5020	ENSP00000244364:S2608N;ENSP00000359790:S5200N;ENSP00000359805:S5022N;ENSP00000400883:S2934N;ENSP00000393645:S4696N;ENSP00000359824:S2934N;ENSP00000354508:S5020N	ENSP00000244364:S2608N	S	-	2	0	DST	56525857	1.000000	0.71417	0.845000	0.33349	0.996000	0.88848	3.244000	0.51399	2.882000	0.98803	0.655000	0.94253	AGC		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		98	183	0	0	0	1	0	98	183				
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	C	T	rs372559618		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502																																						ENST00000280527.2																			1	Substitution - coding silent(1)	p.G315G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(943-945)ggC>ggT		cysteine rich transmembrane BMP regulator 1 (chordin-like)		C		1,4405	2.1+/-5.4	0,1,2202	307.0	280.0	289.0		945	3.6	1.0	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691752C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.945C>T	2.37:g.36691752C>T							p.G315G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1312	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	315					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.945C>T	CCDS1783.1																																																																																				0.502	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		64	239	0	0	0	1	0	64	239				
DSTYK	25778	broad.mit.edu	37	1	205126469	205126469	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:205126469C>T	ENST00000367162.3	-	10	2314	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	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)	p.V223M(1)|p.V762M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATTCCCTCCACCACATCTAGT	0.473																																						ENST00000367162.3																			2	Substitution - Missense(2)	p.V223M(1)|p.V762M(1)	prostate(2)	breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2284-2286)Gtg>Atg		dual serine/threonine and tyrosine protein kinase							149.0	128.0	135.0					1																	205126469		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126469C>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2284G>A	1.37:g.205126469C>T	ENSP00000356130:p.Val762Met					DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron	p.V762M	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			10	2314	-			762			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2284G>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140890	0.94560	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.23950	1.88;1.88	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059028	0.64402	D	0.000002	T	0.43299	0.1241	L	0.41027	1.25	0.80722	D	1	D;D	0.57571	0.973;0.98	D;P	0.63703	0.917;0.873	T	0.22347	-1.0219	10	0.72032	D	0.01	-20.2178	19.3125	0.94195	0.0:1.0:0.0:0.0	.	762;762	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	M	762	ENSP00000356129:V762M;ENSP00000356130:V762M	ENSP00000356129:V762M	V	-	1	0	DSTYK	203393092	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.744000	0.85034	2.753000	0.94483	0.557000	0.71058	GTG		0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		42	96	0	0	0	1	0	42	96				
DCLRE1A	9937	broad.mit.edu	37	10	115612543	115612543	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr10:115612543T>C	ENST00000361384.2	-	1	1316	c.399A>G	c.(397-399)atA>atG	p.I133M	DCLRE1A_ENST00000476112.1_5'Flank|NHLRC2_ENST00000369301.3_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	133	Nuclear localization region.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTGTCTGCCCTATCAATGAGG	0.413								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(397-399)atA>atG	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							156.0	134.0	141.0					10																	115612543		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115612543T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.399A>G	10.37:g.115612543T>C	ENSP00000355185:p.Ile133Met					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	1	1316	-			133			Nuclear localization region.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.399A>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876105	0.51801	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.94376	-3.41;-3.41	5.5	-2.06	0.07298	.	0.301359	0.27298	N	0.020015	T	0.81616	0.4860	N	0.22421	0.69	0.25277	N	0.98947	P	0.41265	0.744	B	0.30943	0.122	T	0.75935	-0.3142	10	0.72032	D	0.01	-5.9465	5.4679	0.16654	0.1398:0.4269:0.0:0.4332	.	133	Q6PJP8	DCR1A_HUMAN	M	133	ENSP00000355185:I133M;ENSP00000358311:I133M	ENSP00000355185:I133M	I	-	3	3	DCLRE1A	115602533	0.145000	0.22656	0.991000	0.47740	0.959000	0.62525	-0.573000	0.05874	-0.231000	0.09825	0.528000	0.53228	ATA		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		12	128	0	0	0	1	0	12	128				
HOOK3	84376	broad.mit.edu	37	8	42852766	42852766	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:42852766T>C	ENST00000307602.4	+	16	1806	c.1606T>C	c.(1606-1608)Tca>Cca	p.S536P		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	536					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.S536P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GGATCAAGGCTCAAAAGCAGA	0.308			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.S536P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1606-1608)Tca>Cca		hook microtubule-tethering protein 3							75.0	77.0	76.0					8																	42852766		2203	4299	6502	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42852766T>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1606T>C	8.37:g.42852766T>C	ENSP00000305699:p.Ser536Pro						p.S536P	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		16	1806	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	536					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1606T>C	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349745	0.61183	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.19806	2.12;2.12	5.29	5.29	0.74685	.	0.202193	0.45361	D	0.000370	T	0.25195	0.0612	M	0.73217	2.22	0.53688	D	0.999974	B	0.12013	0.005	B	0.18871	0.023	T	0.03717	-1.1010	10	0.40728	T	0.16	-13.4155	11.2285	0.48899	0.0:0.0:0.1532:0.8468	.	536	Q86VS8	HOOK3_HUMAN	P	536;12	ENSP00000305699:S536P;ENSP00000433953:S12P	ENSP00000305699:S536P	S	+	1	0	HOOK3	42971923	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.108000	0.57817	2.134000	0.65973	0.533000	0.62120	TCA		0.308	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		15	59	0	0	0	1	0	15	59				
C1orf106	55765	broad.mit.edu	37	1	200878355	200878355	+	Silent	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:200878355C>T	ENST00000367342.4	+	8	1244	c.1044C>T	c.(1042-1044)agC>agT	p.S348S	C1orf106_ENST00000413687.2_Silent_p.S263S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	348	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTTGCAGCAGCCCAGCCACCA	0.602																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1042-1044)agC>agT		chromosome 1 open reading frame 106							39.0	42.0	41.0					1																	200878355		2202	4300	6502	SO:0001819	synonymous_variant	55765							g.chr1:200878355C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1044C>T	1.37:g.200878355C>T						C1orf106_ENST00000413687.2_Silent_p.S263S	p.S348S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			8	1244	+			348			Pro-rich.		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1044C>T																																																																																					0.602	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		34	89	0	0	0	1	0	34	89				
APBA1	320	broad.mit.edu	37	9	72131722	72131722	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr9:72131722G>A	ENST00000265381.4	-	2	627	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	135					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A135A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGGCGTGCTCGGCCTCTGCCT	0.692																																						ENST00000265381.4																			1	Substitution - coding silent(1)	p.A135A(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(403-405)gcC>gcT		amyloid beta (A4) precursor protein-binding, family A, member 1							37.0	33.0	34.0					9																	72131722		2201	4297	6498	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131722G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.405C>T	9.37:g.72131722G>A							p.A135A	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	627	-			135					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.405C>T	CCDS6630.1																																																																																				0.692	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		24	54	0	0	0	1	0	24	54				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	88	0	0	0	1	0	8	88				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA 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 activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	96	0	0	0	1	0	6	96				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		14	107	0	0	0	1	0	14	107				
GPR32	2854	broad.mit.edu	37	19	51273918	51273918	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr19:51273918C>T	ENST00000270590.4	+	1	198	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	21					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R21C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGTCCTGACACGTGATCGCTC	0.522																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			1	Substitution - Missense(1)	p.R21C(1)	prostate(1)	breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(61-63)Cgt>Tgt		G protein-coupled receptor 32							85.0	68.0	74.0					19																	51273918		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51273918C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.61C>T	19.37:g.51273918C>T	ENSP00000270590:p.Arg21Cys						p.R21C	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	198	+		all_neural(266;0.131)	21					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.61C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	8.311	0.822183	0.16678	.	.	ENSG00000142511	ENST00000270590	T	0.31510	1.49	1.71	-0.602	0.11634	.	.	.	.	.	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	P	0.43477	0.808	B	0.34452	0.183	T	0.14364	-1.0475	9	0.56958	D	0.05	.	4.2852	0.10851	0.0:0.4517:0.0:0.5483	.	21	O75388	GPR32_HUMAN	C	21	ENSP00000270590:R21C	ENSP00000270590:R21C	R	+	1	0	GPR32	55965730	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.259000	0.08721	-0.238000	0.09724	0.313000	0.20887	CGT		0.522	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			15	44	0	0	0	1	0	15	44				
BCL6	604	broad.mit.edu	37	3	187447543	187447543	+	Missense_Mutation	SNP	C	C	T	rs142220629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr3:187447543C>T	ENST00000406870.2	-	5	1016	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	217					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CACAGGCATCCGGACATCCCG	0.612			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		1	Substitution - Missense(1)	p.R217Q(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(649-651)cGg>cAg		B-cell CLL/lymphoma 6		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	43.0	43.0	43.0		650,650,650	5.4	1.0	3	dbSNP_134	43	0,8600		0,0,4300	no	missense,missense,missense	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	217/707,217/651,217/707	187447543	2,13004	2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447543C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.650G>A	3.37:g.187447543C>T	ENSP00000384371:p.Arg217Gln					BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000437407.1_Intron	p.R217Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1016	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		217					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.650G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994786	0.54041	4.54E-4	0.0	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.12	5.41	5.41	0.78517	.	0.102064	0.64402	D	0.000004	T	0.12902	0.0313	N	0.16478	0.41	0.37023	D	0.896294	B;D	0.64830	0.052;0.994	B;D	0.64042	0.006;0.921	T	0.14839	-1.0458	10	0.38643	T	0.18	.	12.0196	0.53336	0.0:0.9208:0.0:0.0792	.	217;217	B8PSA7;P41182	.;BCL6_HUMAN	Q	217	ENSP00000384371:R217Q;ENSP00000232014:R217Q;ENSP00000413122:R217Q	ENSP00000232014:R217Q	R	-	2	0	BCL6	188930237	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.424000	0.59868	2.729000	0.93468	0.556000	0.70494	CGG		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		20	51	0	0	0	1	0	20	51				
ZFYVE16	9765	broad.mit.edu	37	5	79752812	79752812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr5:79752812G>A	ENST00000338008.5	+	13	4024	c.3844G>A	c.(3844-3846)Gca>Aca	p.A1282T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1282					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.A1282T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAGCATTGGAGCAAGTTTCAG	0.343																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			1	Substitution - Missense(1)	p.A1282T(1)	prostate(1)	breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3844-3846)Gca>Aca		zinc finger, FYVE domain containing 16							87.0	83.0	84.0					5																	79752812		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79752812G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3844G>A	5.37:g.79752812G>A	ENSP00000337159:p.Ala1282Thr					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T	p.A1282T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	13	4024	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1282					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3844G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415002	0.96092	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49139	0.79;0.79;0.79	5.9	5.9	0.94986	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000025	T	0.68118	0.2966	M	0.71036	2.16	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.62560	0.904;0.864	T	0.69420	-0.5150	10	0.87932	D	0	-8.402	19.8771	0.96880	0.0:0.0:1.0:0.0	.	92;1282	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	T	1282	ENSP00000337159:A1282T;ENSP00000423663:A1282T;ENSP00000426848:A1282T	ENSP00000337159:A1282T	A	+	1	0	ZFYVE16	79788568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.609000	0.98334	2.786000	0.95864	0.563000	0.77884	GCA		0.343	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		21	42	0	0	0	1	0	21	42				
GUCY1A2	2977	broad.mit.edu	37	11	106558447	106558447	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr11:106558447G>A	ENST00000526355.2	-	8	2495	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.P676L(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ACGAGACCGCGGAATGAATGT	0.418																																						ENST00000526355.1																			2	Substitution - Missense(2)	p.P676L(2)	prostate(2)	breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2026-2028)cCg>cTg		guanylate cyclase 1, soluble, alpha 2							95.0	98.0	97.0					11																	106558447		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558447G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2027C>T	11.37:g.106558447G>A	ENSP00000431245:p.Pro676Leu					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L	p.P676L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2495	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	676					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2027C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375737	0.82682	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.80566	-1.39;-1.39;-1.39	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.44902	U	0.000403	D	0.87807	0.6270	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.867;1.0	D;B;D	0.97110	1.0;0.329;1.0	D	0.84572	0.0656	10	0.27785	T	0.31	.	18.7903	0.91971	0.0:0.0:1.0:0.0	.	697;707;676	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	676;707;697	ENSP00000431245:P676L;ENSP00000282249:P707L;ENSP00000344874:P697L	ENSP00000282249:P707L	P	-	2	0	GUCY1A2	106063657	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.340000	0.97038	2.762000	0.94881	0.467000	0.42956	CCG		0.418	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			63	134	0	0	0	1	0	63	134				
ACTBL2	345651	broad.mit.edu	37	5	56778328	56778328	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr5:56778328C>A	ENST00000423391.1	-	1	308	c.207G>T	c.(205-207)aaG>aaT	p.K69N	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	69						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.K69N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CGATAGGATACTTCAGGGTCA	0.547																																						ENST00000423391.1																			1	Substitution - Missense(1)	p.K69N(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(205-207)aaG>aaT		actin, beta-like 2							105.0	82.0	90.0					5																	56778328		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778328C>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.207G>T	5.37:g.56778328C>A	ENSP00000416706:p.Lys69Asn					CTD-2023N9.1_ENST00000506106.1_RNA	p.K69N	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	308	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	69					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.207G>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978830	0.18812	.	.	ENSG00000169067	ENST00000423391	D	0.90676	-2.71	4.78	2.05	0.26809	.	0.075099	0.49916	D	0.000121	D	0.89822	0.6826	M	0.73217	2.22	0.44469	D	0.997403	B	0.31054	0.306	B	0.40165	0.321	D	0.86018	0.1505	10	0.87932	D	0	.	7.6023	0.28083	0.0:0.7185:0.0:0.2815	.	69	Q562R1	ACTBL_HUMAN	N	69	ENSP00000416706:K69N	ENSP00000416706:K69N	K	-	3	2	ACTBL2	56814085	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.238000	0.51352	0.242000	0.21303	0.563000	0.77884	AAG		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		21	42	1	0	1.64293e-13	1	1.67227e-13	21	42				
EML4	27436	broad.mit.edu	37	2	42543187	42543187	+	Missense_Mutation	SNP	A	A	T	rs374261901		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr2:42543187A>T	ENST00000318522.5	+	18	2315	c.2053A>T	c.(2053-2055)Ata>Tta	p.I685L	EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Missense_Mutation_p.I627L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	685					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.I685L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCGCTACTCAATAGGTAGGCA	0.423			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	1	Substitution - Missense(1)	p.I685L(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2053-2055)Ata>Tta		echinoderm microtubule associated protein like 4							80.0	77.0	78.0					2																	42543187		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42543187A>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2053A>T	2.37:g.42543187A>T	ENSP00000320663:p.Ile685Leu					EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Missense_Mutation_p.I627L|EML4_ENST00000401738.3_Missense_Mutation_p.I696L	p.I685L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			18	2315	+			685					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2053A>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252229	0.80135	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56103	0.48;0.48;0.48	5.98	-4.24	0.03777	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.554233	0.20197	N	0.097198	T	0.25901	0.0631	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.06023	-1.0850	10	0.72032	D	0.01	-0.0492	4.078	0.09912	0.398:0.0925:0.4155:0.094	.	627;627;696;685	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	L	685;627;696	ENSP00000320663:I685L;ENSP00000385059:I627L;ENSP00000384939:I696L	ENSP00000320663:I685L	I	+	1	0	EML4	42396691	0.912000	0.30974	0.096000	0.21009	0.994000	0.84299	0.528000	0.23002	-0.711000	0.04995	0.482000	0.46254	ATA		0.423	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		34	75	0	0	0	1	0	34	75				
MUC3A	4584	broad.mit.edu	37	7	100607821	100607821	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr7:100607821G>A	ENST00000319509.7	+	5	1968	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2321	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.E656E(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCGAGTATGAGCAGGTGAAGA	0.637																																						ENST00000319509.7																			2	Substitution - coding silent(2)	p.E656E(2)	prostate(2)	breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1966-1968)gaG>gaA		mucin 3A, cell surface associated							117.0	104.0	108.0					7																	100607821		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100607821G>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1968G>A	7.37:g.100607821G>A						RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA	p.E656E							5	1968	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.1968G>A																																																																																					0.637	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		17	130	0	0	0	1	0	17	130				
KLHDC7B	113730	broad.mit.edu	37	22	50987891	50987891	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr22:50987891G>A	ENST00000395676.2	+	1	1430	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432								p.A333A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCACGCGCGCCACTCCCCG	0.672																																						ENST00000395676.2																			1	Substitution - coding silent(1)	p.A333A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1294-1296)gcG>gcA		kelch domain containing 7B							73.0	75.0	74.0					22																	50987891		2201	4298	6499	SO:0001819	synonymous_variant	113730							g.chr22:50987891G>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1296G>A	22.37:g.50987891G>A							p.A432A	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1430	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	432						Silent	SNP	ENST00000395676.2	37	c.1296G>A	CCDS14097.2																																																																																				0.672	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		51	116	0	0	0	1	0	51	116				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	71	0	0	0	1	0	9	71				
KIAA1210	57481	broad.mit.edu	37	X	118238971	118238971	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chrX:118238971C>A	ENST00000402510.2	-	7	1051	c.1052G>T	c.(1051-1053)aGt>aTt	p.S351I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	351										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CGCTGTCAAACTCTTATGTGG	0.418																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1051-1053)aGt>aTt		KIAA1210							151.0	146.0	147.0					X																	118238971		1899	4118	6017	SO:0001583	missense	57481							g.chrX:118238971C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1052G>T	X.37:g.118238971C>A	ENSP00000384670:p.Ser351Ile						p.S351I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			7	1051	-			351					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1052G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	3.741	-0.053525	0.07362	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10960	2.82	4.55	-3.46	0.04767	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	9	0.02654	T	1	.	0.9924	0.01459	0.367:0.2997:0.1892:0.1441	.	351	Q9ULL0	K1210_HUMAN	I	351;187	ENSP00000384670:S351I	ENSP00000396164:S187I	S	-	2	0	RP13-347D8.5;RP13-347D8.6	118122999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-0.884000	0.03976	-0.474000	0.04947	AGT		0.418	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		9	195	1	0	0.000673444	1	0.000673444	9	195				
KIAA1467	57613	broad.mit.edu	37	12	13208628	13208628	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:13208628G>A	ENST00000197268.8	+	2	301	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral component of membrane (GO:0016021)		p.D61N(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCAGAACCCGACTCAGATGC	0.557																																						ENST00000197268.8																			1	Substitution - Missense(1)	p.D61N(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(181-183)Gac>Aac		KIAA1467							65.0	63.0	64.0					12																	13208628		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208628G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.181G>A	12.37:g.13208628G>A	ENSP00000197268:p.Asp61Asn						p.D61N	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	301	+		Prostate(47;0.184)	61					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.181G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234312	0.58886	.	.	ENSG00000084444	ENST00000197268	T	0.25579	1.79	5.35	5.35	0.76521	.	0.160733	0.53938	D	0.000041	T	0.41073	0.1143	M	0.62723	1.935	0.39430	D	0.967069	D	0.69078	0.997	P	0.56751	0.805	T	0.31364	-0.9946	10	0.52906	T	0.07	-11.622	12.4301	0.55569	0.0766:0.0:0.9234:0.0	.	61	A2RU67	K1467_HUMAN	N	61	ENSP00000197268:D61N	ENSP00000197268:D61N	D	+	1	0	KIAA1467	13099895	1.000000	0.71417	0.947000	0.38551	0.132000	0.20833	4.306000	0.59117	2.499000	0.84300	0.603000	0.83216	GAC		0.557	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		47	86	0	0	0	1	0	47	86				
PLCH1	23007	broad.mit.edu	37	3	155206588	155206588	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr3:155206588G>A	ENST00000340059.7	-	19	2363	c.2364C>T	c.(2362-2364)aaC>aaT	p.N788N	PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000334686.6_Silent_p.N770N|PLCH1_ENST00000460012.1_Silent_p.N770N|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Silent_p.N788N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	788	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.N770N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCACACAGGGTTAAATCCTC	0.428																																						ENST00000460012.1																			1	Substitution - coding silent(1)	p.N770N(1)	prostate(1)	NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2308-2310)aaC>aaT		phospholipase C, eta 1							90.0	84.0	86.0					3																	155206588		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206588G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2364C>T	3.37:g.155206588G>A						PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000334686.6_Silent_p.N770N|PLCH1_ENST00000447496.2_Silent_p.N788N|PLCH1_ENST00000340059.7_Silent_p.N788N|PLCH1_ENST00000494598.1_Silent_p.N788N	p.N770N			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		20	2667	-			788			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2310C>T	CCDS46939.1																																																																																				0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		22	46	0	0	0	1	0	22	46				
HPGD	3248	broad.mit.edu	37	4	175416699	175416699	+	Splice_Site	SNP	C	C	A	rs200828629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr4:175416699C>A	ENST00000296522.6	-	5	944	c.498G>T	c.(496-498)gcG>gcT	p.A166A	HPGD_ENST00000510901.1_Splice_Site_p.A45A|HPGD_ENST00000541923.1_Splice_Site_p.A45A|HPGD_ENST00000422112.2_Splice_Site_p.A98A|HPGD_ENST00000296521.7_Splice_Site_p.A166A|HPGD_ENST00000542498.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	166					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.A166A(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		GTAGCCTCACCGCTGCTGAGC	0.408																																						ENST00000296522.6																			1	Substitution - coding silent(1)	p.A166A(1)	prostate(1)	kidney(1)|lung(3)|prostate(3)	7						c.e5+1		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						91.0	81.0	85.0					4																	175416699		2203	4300	6503	SO:0001630	splice_region_variant	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175416699C>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.498+1G>T	4.37:g.175416699C>A						HPGD_ENST00000541923.1_Splice_Site_p.A45_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000296521.7_Splice_Site_p.A166_splice|HPGD_ENST00000510901.1_Splice_Site_p.A45_splice|HPGD_ENST00000422112.2_Splice_Site_p.A98_splice	p.A166_splice	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	5	944	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	166					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Splice_Site	SNP	ENST00000296522.6	37	c.498_splice	CCDS3821.1																																																																																				0.408	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3		Silent	39	51	1	0	9.39024e-22	1	9.91192e-22	39	51				
SSH1	54434	broad.mit.edu	37	12	109192926	109192926	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:109192926G>A	ENST00000326495.5	-	13	1292	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	SSH1_ENST00000360239.3_Missense_Mutation_p.S88L|SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	400	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTGGAGGCCGAGCGACTCAC	0.557																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1198-1200)tCg>tTg		slingshot protein phosphatase 1							57.0	53.0	54.0					12																	109192926		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109192926G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1199C>T	12.37:g.109192926G>A	ENSP00000315713:p.Ser400Leu					SSH1_ENST00000551165.1_Missense_Mutation_p.S400L|SSH1_ENST00000360239.3_Missense_Mutation_p.S88L|SSH1_ENST00000326470.5_Missense_Mutation_p.S411L	p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			13	1292	-			400			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1199C>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739850	0.69304	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.72942	0.84;-0.7;-0.7;-0.7	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	H	0.99838	4.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;1.0;0.999	D	0.95836	0.8862	10	0.87932	D	0	-19.0027	19.2929	0.94110	0.0:0.0:1.0:0.0	.	411;400;400;88	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	L	88;400;400;411	ENSP00000353374:S88L;ENSP00000315713:S400L;ENSP00000448824:S400L;ENSP00000326107:S411L	ENSP00000326107:S411L	S	-	2	0	SSH1	107717055	1.000000	0.71417	0.068000	0.19968	0.095000	0.18619	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	TCG		0.557	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	37	0	0	0	1	0	6	37				
BAGE2	85319	broad.mit.edu	37	21	11047499	11047499	+	RNA	SNP	G	G	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr21:11047499G>T	ENST00000470054.1	-	0	755							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAGCCGTTGGTTGGTACAG	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047499G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047499G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	755	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		42	572	1	0	3.76604e-16	1	3.90298e-16	42	572				
SCN5A	6331	broad.mit.edu	37	3	38627292	38627292	+	Missense_Mutation	SNP	G	G	A	rs199473171		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr3:38627292G>A	ENST00000333535.4	-	16	2826	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	893					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R893C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGAGGATGCGGAAGATGATG	0.547																																						ENST00000413689.1																			2	Substitution - Missense(2)	p.R893C(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2677-2679)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						149.0	146.0	147.0					3																	38627292		2201	4300	6501	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38627292G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2677C>T	3.37:g.38627292G>A	ENSP00000328968:p.Arg893Cys					SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C	p.R893C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2870	-	Medulloblastoma(35;0.163)		893					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2677C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759321	0.69763	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.17	4.17	0.49024	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.99011	4.4	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.995;0.959;0.999;0.978	D	0.97617	1.0133	10	0.87932	D	0	.	16.6604	0.85239	0.0:0.0:1.0:0.0	.	893;893;893;893;893;893;893	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	893	ENSP00000398962:R893C;ENSP00000398266:R893C;ENSP00000410257:R893C;ENSP00000388797:R893C;ENSP00000397915:R893C;ENSP00000416634:R893C;ENSP00000328968:R893C;ENSP00000399524:R893C;ENSP00000403355:R893C;ENSP00000413996:R893C	ENSP00000328968:R893C	R	-	1	0	SCN5A	38602296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.207000	0.72159	2.169000	0.68431	0.462000	0.41574	CGC		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	221	0	0	0	1	0	9	221				
MED13L	23389	broad.mit.edu	37	12	116446812	116446812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:116446812G>A	ENST00000281928.3	-	10	1612	c.1406C>T	c.(1405-1407)aCa>aTa	p.T469I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	469						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T469I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTTCTGCTGTTTTGTGCTT	0.478																																						ENST00000281928.3																			1	Substitution - Missense(1)	p.T469I(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1405-1407)aCa>aTa		mediator complex subunit 13-like							262.0	254.0	257.0					12																	116446812		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446812G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1406C>T	12.37:g.116446812G>A	ENSP00000281928:p.Thr469Ile						p.T469I	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1612	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		469					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1406C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861423	0.51482	.	.	ENSG00000123066	ENST00000281928	T	0.74947	-0.89	5.76	5.76	0.90799	.	0.150133	0.64402	D	0.000013	T	0.69223	0.3087	L	0.52573	1.65	0.39788	D	0.972392	B	0.02656	0.0	B	0.06405	0.002	T	0.65261	-0.6211	10	0.41790	T	0.15	.	14.1668	0.65483	0.0713:0.0:0.9286:0.0	.	469	Q71F56	MD13L_HUMAN	I	469	ENSP00000281928:T469I	ENSP00000281928:T469I	T	-	2	0	MED13L	114931195	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.335000	0.59298	2.732000	0.93576	0.655000	0.94253	ACA		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			101	145	0	0	0	1	0	101	145				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	64	0	0	0	1	0	4	64				
ASB1	51665	broad.mit.edu	37	2	239344476	239344476	+	Missense_Mutation	SNP	C	C	G	rs553675559		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr2:239344476C>G	ENST00000264607.4	+	3	563	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	106					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGAGGTGGATCTGGTGGACGT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.0					ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(316-318)Ctg>Gtg		ankyrin repeat and SOCS box containing 1							63.0	59.0	61.0					2																	239344476		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344476C>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.316C>G	2.37:g.239344476C>G	ENSP00000264607:p.Leu106Val					ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	p.L106V	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	563	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	106					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.316C>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850296	0.51270	.	.	ENSG00000065802	ENST00000264607	T	0.53206	0.63	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	N	0.26092	0.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.53514	-0.8428	10	0.30854	T	0.27	.	19.5671	0.95398	0.0:1.0:0.0:0.0	.	106	Q9Y576	ASB1_HUMAN	V	106	ENSP00000264607:L106V	ENSP00000264607:L106V	L	+	1	2	ASB1	239009215	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.378000	0.52432	2.629000	0.89072	0.650000	0.86243	CTG		0.632	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		6	104	0	0	0	1	0	6	104				
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																						ENST00000494540.1																			0																																																			0							g.chr10:38645343C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T								NR_003086.1						0	36	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	30	0	0	0	1	0	7	30				
COL22A1	169044	broad.mit.edu	37	8	139662012	139662012	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr8:139662012T>C	ENST00000303045.6	-	46	3789	c.3343A>G	c.(3343-3345)Aat>Gat	p.N1115D	COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1115	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.N1115D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCAGTCATTGCACACATCC	0.532										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.N1115D(1)	prostate(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3343-3345)Aat>Gat		collagen, type XXII, alpha 1							53.0	50.0	51.0					8																	139662012		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139662012T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3343A>G	8.37:g.139662012T>C	ENSP00000303153:p.Asn1115Asp	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D	p.N1115D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3789	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1115			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3343A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750647	0.15778	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96300	-3.97;-3.97	4.95	2.5	0.30297	.	0.455288	0.18179	U	0.149191	D	0.89181	0.6642	N	0.20483	0.58	0.23010	N	0.998437	B;B	0.19817	0.027;0.039	B;B	0.19391	0.025;0.011	T	0.76482	-0.2943	10	0.11182	T	0.66	.	5.5468	0.17069	0.0:0.094:0.1762:0.7298	.	1095;1115	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	D	1115;1095;808	ENSP00000303153:N1115D;ENSP00000387655:N1095D	ENSP00000303153:N1115D	N	-	1	0	COL22A1	139731194	0.943000	0.32029	0.898000	0.35279	0.702000	0.40608	1.417000	0.34770	0.685000	0.31468	0.379000	0.24179	AAT		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		27	31	0	0	0	1	0	27	31				
GSTT1	2952	broad.mit.edu	37	22	24384213	24384213	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr22:24384213G>A	ENST00000248935.5	-	1	71	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		7	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.L7L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AGCAGGTCCAGGTACAGCTCC	0.587									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			1	Substitution - coding silent(1)	p.L7L(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(19-21)Ctg>Ttg		glutathione S-transferase theta 1	Glutathione(DB00143)						72.0	68.0	69.0					22																	24384213		1703	3600	5303	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24384213G>A																												ENST00000248935.5:c.19C>T	22.37:g.24384213G>A						GSTT1_ENST00000439996.2_5'UTR	p.L7L	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			1	71	-			7			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.19C>T	CCDS13822.1																																																																																				0.587	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			58	81	0	0	0	1	0	58	81				
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	lincRNA	SNP	G	G	A	rs9730434	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr1:16959698G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657																																						ENST00000412962.1																			4	Substitution - coding silent(4)	p.H56H(4)	prostate(3)|endometrium(1)																																																0							g.chr1:16959698G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959698G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		15	124	0	0	0	1	0	15	124				
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10.0	10.0	10.0					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		3	3	0	0	0	1	0	3	3				
LRP1B	53353	broad.mit.edu	37	2	141680622	141680622	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr2:141680622T>G	ENST00000389484.3	-	21	4202	c.3231A>C	c.(3229-3231)aaA>aaC	p.K1077N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1077	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.K1077N(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)		CTTCACAGTCTTTTTCTCCAT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.K1077N(1)	prostate(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.(3229-3231)aaA>aaC		low density lipoprotein receptor-related protein 1B							208.0	183.0	191.0					2																	141680622		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680622T>G	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.3231A>C	2.37:g.141680622T>G	ENSP00000374135:p.Lys1077Asn	TSP Lung(27;0.18)					p.K1077N	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)	21	4202	-		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)	1077			LDL-receptor class A 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3231A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254827	0.39896	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95137	-3.62;-3.62	5.19	0.324	0.15898	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.89726	0.6798	N	0.03281	-0.365	0.45477	D	0.998441	B;D	0.69078	0.254;0.997	B;D	0.72075	0.143;0.976	D	0.83422	0.0033	10	0.15066	T	0.55	.	8.9047	0.35517	0.0:0.6063:0.0:0.3937	.	260;1077	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1077;1015;222	ENSP00000374135:K1077N;ENSP00000413239:K222N	ENSP00000374135:K1077N	K	-	3	2	LRP1B	141397092	0.998000	0.40836	0.974000	0.42286	0.954000	0.61252	0.456000	0.21859	0.037000	0.15575	0.455000	0.32223	AAA		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		47	113	0	0	0	1	0	47	113				
BAZ2B	29994	broad.mit.edu	37	2	160287661	160287661	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr2:160287661T>C	ENST00000392783.2	-	10	2402	c.1907A>G	c.(1906-1908)gAt>gGt	p.D636G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	636	Asp/Glu-rich (acidic).				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.D636G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAATTACTATCTGATTCTGG	0.343																																						ENST00000392783.2																			1	Substitution - Missense(1)	p.D636G(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1906-1908)gAt>gGt		bromodomain adjacent to zinc finger domain, 2B							106.0	93.0	97.0					2																	160287661		1838	4086	5924	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287661T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1907A>G	2.37:g.160287661T>C	ENSP00000376534:p.Asp636Gly					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	p.D636G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			10	2402	-			636			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1907A>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265777	0.59540	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.21543	2.0;2.0;2.0	5.76	5.76	0.90799	.	0.000000	0.37955	U	0.001870	T	0.32941	0.0846	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;P	0.68765	0.96;0.942;0.877	T	0.03945	-1.0990	10	0.37606	T	0.19	-16.2577	16.0663	0.80878	0.0:0.0:0.0:1.0	.	440;634;636	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	G	634;636;636	ENSP00000376533:D634G;ENSP00000376534:D636G;ENSP00000348087:D636G	ENSP00000348087:D636G	D	-	2	0	BAZ2B	159995907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.597000	0.74118	2.196000	0.70406	0.533000	0.62120	GAT		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			16	34	0	0	0	1	0	16	34				
LAMC1	3915	broad.mit.edu	37	1	183077436	183077436	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr1:183077436G>A	ENST00000258341.4	+	3	1006	c.749G>A	c.(748-750)aGa>aAa	p.R250K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	250	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R250K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACTGACATCAGAGTAACTCTT	0.378																																						ENST00000258341.4																			2	Substitution - Missense(2)	p.R250K(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(748-750)aGa>aAa		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	134.0	136.0					1																	183077436		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183077436G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.749G>A	1.37:g.183077436G>A	ENSP00000258341:p.Arg250Lys						p.R250K	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			3	1006	+			250			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.749G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730755	0.48939	.	.	ENSG00000135862	ENST00000258341	D	0.83914	-1.78	4.43	4.43	0.53597	Laminin, N-terminal (3);	0.049079	0.85682	D	0.000000	T	0.79311	0.4424	L	0.39397	1.21	0.51233	D	0.999916	B	0.27166	0.17	B	0.30029	0.11	T	0.79011	-0.1977	10	0.59425	D	0.04	.	17.421	0.87515	0.0:0.0:1.0:0.0	.	250	P11047	LAMC1_HUMAN	K	250	ENSP00000258341:R250K	ENSP00000258341:R250K	R	+	2	0	LAMC1	181344059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.503000	0.60407	2.179000	0.69175	0.467000	0.42956	AGA		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		15	106	0	0	0	1	0	15	106				
DST	667	broad.mit.edu	37	6	56417898	56417898	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr6:56417898C>T	ENST00000361203.3	-	57	15066	c.15059G>A	c.(15058-15060)aGc>aAc	p.S5020N	DST_ENST00000244364.6_Missense_Mutation_p.S2608N|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000370754.5_Missense_Mutation_p.S5200N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N			Q03001	DYST_HUMAN	dystonin	5020					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S2608N(1)|p.S5022N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGCAAGCTATTGGCTGT	0.413																																						ENST00000370754.5																			2	Substitution - Missense(2)	p.S2608N(1)|p.S5022N(1)	prostate(2)	NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15598-15600)aGc>aAc		dystonin							144.0	143.0	143.0					6																	56417898		1883	4131	6014	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417898C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15059G>A	6.37:g.56417898C>T	ENSP00000354508:p.Ser5020Asn					DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S2608N|DST_ENST00000361203.3_Missense_Mutation_p.S5020N|DST_ENST00000446842.2_Missense_Mutation_p.S4696N	p.S5200N			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15598	-	Lung NSC(77;0.103)		5020					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15599G>A		.	.	.	.	.	.	.	.	.	.	C	10.30	1.311194	0.23821	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.76	4.88	0.63580	.	0.092777	0.46442	D	0.000281	T	0.16557	0.0398	L	0.43701	1.375	0.24560	N	0.993971	P;B;B;B;B	0.44429	0.835;0.009;0.402;0.002;0.016	B;B;B;B;B	0.40199	0.322;0.019;0.17;0.002;0.028	T	0.03413	-1.1039	9	0.20046	T	0.44	.	11.9901	0.53169	0.0:0.8073:0.124:0.0687	.	2934;5022;5200;5020;2608	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2608;5200;5022;2934;4696;2934;5020	ENSP00000244364:S2608N;ENSP00000359790:S5200N;ENSP00000359805:S5022N;ENSP00000400883:S2934N;ENSP00000393645:S4696N;ENSP00000359824:S2934N;ENSP00000354508:S5020N	ENSP00000244364:S2608N	S	-	2	0	DST	56525857	1.000000	0.71417	0.845000	0.33349	0.996000	0.88848	3.244000	0.51399	2.882000	0.98803	0.655000	0.94253	AGC		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		98	183	0	0	0	1	0	98	183				
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	C	T	rs372559618		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502																																						ENST00000280527.2																			1	Substitution - coding silent(1)	p.G315G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(943-945)ggC>ggT		cysteine rich transmembrane BMP regulator 1 (chordin-like)		C		1,4405	2.1+/-5.4	0,1,2202	307.0	280.0	289.0		945	3.6	1.0	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691752C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.945C>T	2.37:g.36691752C>T							p.G315G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1312	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	315					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.945C>T	CCDS1783.1																																																																																				0.502	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		64	239	0	0	0	1	0	64	239				
DSTYK	25778	broad.mit.edu	37	1	205126469	205126469	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr1:205126469C>T	ENST00000367162.3	-	10	2314	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	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)	p.V223M(1)|p.V762M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATTCCCTCCACCACATCTAGT	0.473																																						ENST00000367162.3																			2	Substitution - Missense(2)	p.V223M(1)|p.V762M(1)	prostate(2)	breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2284-2286)Gtg>Atg		dual serine/threonine and tyrosine protein kinase							149.0	128.0	135.0					1																	205126469		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126469C>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2284G>A	1.37:g.205126469C>T	ENSP00000356130:p.Val762Met					DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M	p.V762M	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			10	2314	-			762			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2284G>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140890	0.94560	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.23950	1.88;1.88	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059028	0.64402	D	0.000002	T	0.43299	0.1241	L	0.41027	1.25	0.80722	D	1	D;D	0.57571	0.973;0.98	D;P	0.63703	0.917;0.873	T	0.22347	-1.0219	10	0.72032	D	0.01	-20.2178	19.3125	0.94195	0.0:1.0:0.0:0.0	.	762;762	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	M	762	ENSP00000356129:V762M;ENSP00000356130:V762M	ENSP00000356129:V762M	V	-	1	0	DSTYK	203393092	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.744000	0.85034	2.753000	0.94483	0.557000	0.71058	GTG		0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		42	96	0	0	0	1	0	42	96				
DCLRE1A	9937	broad.mit.edu	37	10	115612543	115612543	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr10:115612543T>C	ENST00000361384.2	-	1	1316	c.399A>G	c.(397-399)atA>atG	p.I133M	DCLRE1A_ENST00000476112.1_5'Flank|NHLRC2_ENST00000369301.3_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	133	Nuclear localization region.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTGTCTGCCCTATCAATGAGG	0.413								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(397-399)atA>atG	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							156.0	134.0	141.0					10																	115612543		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115612543T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.399A>G	10.37:g.115612543T>C	ENSP00000355185:p.Ile133Met					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	1	1316	-			133			Nuclear localization region.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.399A>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876105	0.51801	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.94376	-3.41;-3.41	5.5	-2.06	0.07298	.	0.301359	0.27298	N	0.020015	T	0.81616	0.4860	N	0.22421	0.69	0.25277	N	0.98947	P	0.41265	0.744	B	0.30943	0.122	T	0.75935	-0.3142	10	0.72032	D	0.01	-5.9465	5.4679	0.16654	0.1398:0.4269:0.0:0.4332	.	133	Q6PJP8	DCR1A_HUMAN	M	133	ENSP00000355185:I133M;ENSP00000358311:I133M	ENSP00000355185:I133M	I	-	3	3	DCLRE1A	115602533	0.145000	0.22656	0.991000	0.47740	0.959000	0.62525	-0.573000	0.05874	-0.231000	0.09825	0.528000	0.53228	ATA		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		12	128	0	0	0	1	0	12	128				
HOOK3	84376	broad.mit.edu	37	8	42852766	42852766	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr8:42852766T>C	ENST00000307602.4	+	16	1806	c.1606T>C	c.(1606-1608)Tca>Cca	p.S536P		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	536					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.S536P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GGATCAAGGCTCAAAAGCAGA	0.308			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.S536P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1606-1608)Tca>Cca		hook microtubule-tethering protein 3							75.0	77.0	76.0					8																	42852766		2203	4299	6502	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42852766T>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1606T>C	8.37:g.42852766T>C	ENSP00000305699:p.Ser536Pro						p.S536P	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		16	1806	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	536					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1606T>C	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349745	0.61183	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.19806	2.12;2.12	5.29	5.29	0.74685	.	0.202193	0.45361	D	0.000370	T	0.25195	0.0612	M	0.73217	2.22	0.53688	D	0.999974	B	0.12013	0.005	B	0.18871	0.023	T	0.03717	-1.1010	10	0.40728	T	0.16	-13.4155	11.2285	0.48899	0.0:0.0:0.1532:0.8468	.	536	Q86VS8	HOOK3_HUMAN	P	536;12	ENSP00000305699:S536P;ENSP00000433953:S12P	ENSP00000305699:S536P	S	+	1	0	HOOK3	42971923	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.108000	0.57817	2.134000	0.65973	0.533000	0.62120	TCA		0.308	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		15	59	0	0	0	1	0	15	59				
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr15:102292820G>C	ENST00000561463.1	+	0	866									DNM1 pseudogene 47									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592																																						ENST00000561463.1																			2	Substitution - coding silent(2)	p.T136T(2)	kidney(2)																																																0							g.chr15:102292820G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292820G>C														0	866	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	25	0	0	0	1	0	3	25				
C1orf106	55765	broad.mit.edu	37	1	200878355	200878355	+	Silent	SNP	C	C	T			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr1:200878355C>T	ENST00000367342.4	+	8	1244	c.1044C>T	c.(1042-1044)agC>agT	p.S348S	C1orf106_ENST00000413687.2_Silent_p.S263S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	348	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTTGCAGCAGCCCAGCCACCA	0.602																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1042-1044)agC>agT		chromosome 1 open reading frame 106							39.0	42.0	41.0					1																	200878355		2202	4300	6502	SO:0001819	synonymous_variant	55765							g.chr1:200878355C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1044C>T	1.37:g.200878355C>T						C1orf106_ENST00000413687.2_Silent_p.S263S	p.S348S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			8	1244	+			348			Pro-rich.		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1044C>T																																																																																					0.602	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		34	89	0	0	0	1	0	34	89				
APBA1	320	broad.mit.edu	37	9	72131722	72131722	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr9:72131722G>A	ENST00000265381.4	-	2	627	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	135					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A135A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGGCGTGCTCGGCCTCTGCCT	0.692																																						ENST00000265381.4																			1	Substitution - coding silent(1)	p.A135A(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(403-405)gcC>gcT		amyloid beta (A4) precursor protein-binding, family A, member 1							37.0	33.0	34.0					9																	72131722		2201	4297	6498	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131722G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.405C>T	9.37:g.72131722G>A							p.A135A	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	627	-			135					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.405C>T	CCDS6630.1																																																																																				0.692	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		24	54	0	0	0	1	0	24	54				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	88	0	0	0	1	0	8	88				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA 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 activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	96	0	0	0	1	0	6	96				
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCAGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup						p.80_81insSS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	8						7	8	---	---	---	---
AC007563.5	0	broad.mit.edu	37	2	217650443	217650443	+	RNA	DEL	T	T	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:217650443delT	ENST00000447289.1	+	0	510																											cccggcTCACTTTTTTTTTTT	0.433																																						ENST00000447289.1																			0																																																			0							g.chr2:217650443delT																													2.37:g.217650443delT														0	510	+									RNA	DEL	ENST00000447289.1	37																																																																																						0.433	AC007563.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000339423.2			3	3						3	3	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		9	128						9	128	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	86						7	86	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	315						8	315	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	250						7	250	---	---	---	---
DST	667	broad.mit.edu	37	6	56510689	56510690	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:56510689_56510690delTC	ENST00000361203.3	-	11	1126_1127	c.1119_1120delGA	c.(1117-1122)gagaagfs	p.K374fs	DST_ENST00000244364.6_5'Flank|DST_ENST00000446842.2_5'Flank|DST_ENST00000370754.5_Frame_Shift_Del_p.K552fs|DST_ENST00000312431.6_Frame_Shift_Del_p.K374fs|DST_ENST00000421834.2_Frame_Shift_Del_p.K374fs|DST_ENST00000370769.4_Frame_Shift_Del_p.K374fs|DST_ENST00000370765.6_5'Flank|DST_ENST00000370788.2_Frame_Shift_Del_p.K374fs			Q03001	DYST_HUMAN	dystonin	374					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGAAGGGCCTTCTCTCTCTCTA	0.441																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1651-1656)gaagfs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56510689_56510690delTC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1119_1120delGA	6.37:g.56510697_56510698delTC	ENSP00000354508:p.Lys374fs					DST_ENST00000370769.4_Frame_Shift_Del_p.EK373fs|DST_ENST00000421834.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000312431.6_Frame_Shift_Del_p.EK373fs|DST_ENST00000370788.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000361203.3_Frame_Shift_Del_p.EK373fs	p.EK551fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		14	1652_1653	-	Lung NSC(77;0.103)		373					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.1653_1654delGA																																																																																					0.441	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	271						7	271	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1090-1092)afs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820131_97820132delAG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1090_1091delAG	7.37:g.97820139_97820140delAG	ENSP00000297293:p.Arg364fs						p.R364fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1383_1384	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		364			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1090_1091delAG	CCDS5654.1																																																																																				0.495	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	672						7	672	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151904428	151904429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:151904428_151904429insA	ENST00000262189.6	-	24	4015_4016	c.3797_3798insT	c.(3796-3798)ggafs	p.G1266fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G1266fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1266					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACCATCTGTTCCTTCCACTCC	0.381																																						ENST00000355193.2																			0											c.(3796-3798)gacfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151904428_151904429insA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3797_3798insT	7.37:g.151904428_151904429insA	ENSP00000262189:p.Gly1266fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.D1266fs	p.D1266fs							24	4015_4016	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.3797_3798insT	CCDS5931.1																																																																																				0.381	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			43	102						43	102	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61693942	61693943	+	In_Frame_Ins	INS	-	-	AAAGCA	rs398124316|rs377139749	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:61693942_61693943insAAAGCA	ENST00000423902.2	+	3	2528_2529	c.2049_2050insAAAGCA	c.(2050-2052)aaa>AAAGCAaaa	p.684_684K>KAK	CHD7_ENST00000525508.1_In_Frame_Ins_p.684_684K>KAK|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	684	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAAGGAAAAGAAAGCAAAAAC	0.45														17	0.00339457	0.0008	0.0072	5008	,	,		16148	0.0		0.0109	False		,,,				2504	0.0					ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2047-2052)aaaagc>aaAAAGCAaagc		chromodomain helicase DNA binding protein 7				11,3479		0,11,1734						5.4	1.0			40	91,7681		3,85,3798	no	coding	CHD7	NM_017780.3		3,96,5532	A1A1,A1R,RR		1.1709,0.3152,0.9057				102,11160				SO:0001652	inframe_insertion	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61693942_61693943insAAAGCA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2050_2055dupAAAGCA	8.37:g.61693943_61693948dupAAAGCA	Exception_encountered					CHD7_ENST00000525508.1_In_Frame_Ins_p.683_684KS>KKQS|CHD7_ENST00000524602.1_Intron	p.683_684KS>KKQS	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2528_2529	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	683			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	In_Frame_Ins	INS	ENST00000423902.2	37	c.2049_2050insAAAGCA	CCDS47865.1																																																																																				0.450	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	42						7	42	---	---	---	---
SLC10A5	347051	broad.mit.edu	37	8	82606545	82606546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:82606545_82606546insC	ENST00000518568.1	-	1	1863_1864	c.662_663insG	c.(661-663)ggcfs	p.G221fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	221						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAGAGATAGCCCCCACCCCC	0.47																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(661-663)gtafs		solute carrier family 10, member 5																																				SO:0001589	frameshift_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606545_82606546insC		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.663dupG	8.37:g.82606550_82606550dupC	ENSP00000428612:p.Gly221fs						p.V221fs	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1863_1864	-			221					B2RN26	Frame_Shift_Ins	INS	ENST00000518568.1	37	c.662_663insG	CCDS34915.1																																																																																				0.470	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		7	522						7	522	---	---	---	---
TTLL11	158135	broad.mit.edu	37	9	124855330	124855331	+	In_Frame_Ins	INS	-	-	TGGCCT	rs3833704|rs201653732	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr9:124855330_124855331insTGGCCT	ENST00000373776.3	-	1	554_555	c.367_368insAGGCCA	c.(367-369)aca>aAGGCCAca	p.122_123insKA	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_In_Frame_Ins_p.122_123insKA	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	122					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						cgtctccgctgtggcctcggcc	0.762														678	0.135383	0.1044	0.1254	5008	,	,		10384	0.0367		0.2773	False		,,,				2504	0.1401					ENST00000321582.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(367-369)agc>AGGCCAagc		tubulin tyrosine ligase-like family, member 11			,	363,1875		124,115,880					,	-4.8	0.0		dbSNP_107	2	1330,3776		463,404,1686	no	coding,coding	TTLL11	NM_194252.2,NM_001139442.1	,	587,519,2566	A1A1,A1R,RR		26.0478,16.2198,23.0528	,	,		1693,5651				SO:0001652	inframe_insertion	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124855330_124855331insTGGCCT	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.362_367dupAGGCCA	9.37:g.124855331_124855336dupTGGCCT	ENSP00000362881:p.Ala122_Thr123insLysAla					TTLL11_ENST00000373776.3_In_Frame_Ins_p.122_123insRP|TTLL11_ENST00000474723.1_5'UTR	p.122_123insRP	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			1	554_555	-			122						In_Frame_Ins	INS	ENST00000373776.3	37	c.367_368insAGGCCA	CCDS6834.2																																																																																				0.762	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		4	4						4	4	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	8	328						8	328	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		10	719						10	719	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			9	222						9	222	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35331423	35331423	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr14:35331423delT	ENST00000382422.2	-	2	546	c.219delA	c.(217-219)aaafs	p.K73fs	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.K73fs			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	73	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCTGTCTTGCTTTTTTTTCTG	0.428																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(217-219)aafs		bromodomain adjacent to zinc finger domain, 1A							162.0	166.0	165.0					14																	35331423		2203	4300	6503	SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331423delT	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.219delA	14.37:g.35331423delT	ENSP00000371859:p.Lys73fs					BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000382422.2_Frame_Shift_Del_p.K73fs	p.K73fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	3	786	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		73			Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Frame_Shift_Del	DEL	ENST00000382422.2	37	c.219delA	CCDS9651.1																																																																																				0.428	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			8	381						8	381	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57508748	57508749	+	RNA	DEL	GA	GA	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr14:57508748_57508749delGA	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		TGAAGTTAAGGAGAGAAAAAAG	0.376																																						ENST00000554725.1																			0																																																			0							g.chr14:57508748_57508749delGA	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57508752_57508753delGA														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.376	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		15	41						15	41	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	lincRNA	DEL	A	A	-	rs71401156	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													|||unknown(HR)	2148	0.428914	0.2731	0.4049	5008	,	,		14255	0.5149		0.4722	False		,,,				2504	0.5235					ENST00000441803.1																			0																																																			0							g.chr2:217475032delA																													2.37:g.217475032delA														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.373	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			9	11						9	11	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(142-144)gccfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.A48fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	882						8	882	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		9	128						9	128	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	86						7	86	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	315						8	315	---	---	---	---
DST	667	broad.mit.edu	37	6	56510689	56510690	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr6:56510689_56510690delTC	ENST00000361203.3	-	11	1126_1127	c.1119_1120delGA	c.(1117-1122)gagaagfs	p.K374fs	DST_ENST00000244364.6_5'Flank|DST_ENST00000446842.2_5'Flank|DST_ENST00000370754.5_Frame_Shift_Del_p.K552fs|DST_ENST00000312431.6_Frame_Shift_Del_p.K374fs|DST_ENST00000421834.2_Frame_Shift_Del_p.K374fs|DST_ENST00000370769.4_Frame_Shift_Del_p.K374fs|DST_ENST00000370765.6_5'Flank|DST_ENST00000370788.2_Frame_Shift_Del_p.K374fs			Q03001	DYST_HUMAN	dystonin	374					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGAAGGGCCTTCTCTCTCTCTA	0.441																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1651-1656)gaagfs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56510689_56510690delTC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1119_1120delGA	6.37:g.56510697_56510698delTC	ENSP00000354508:p.Lys374fs					DST_ENST00000312431.6_Frame_Shift_Del_p.EK373fs|DST_ENST00000361203.3_Frame_Shift_Del_p.EK373fs|DST_ENST00000370769.4_Frame_Shift_Del_p.EK373fs|DST_ENST00000421834.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000370788.2_Frame_Shift_Del_p.EK373fs	p.EK551fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		14	1652_1653	-	Lung NSC(77;0.103)		373					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.1653_1654delGA																																																																																					0.441	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	271						7	271	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		9	171						9	171	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151904428	151904429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr7:151904428_151904429insA	ENST00000262189.6	-	24	4015_4016	c.3797_3798insT	c.(3796-3798)ggafs	p.G1266fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G1266fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1266					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACCATCTGTTCCTTCCACTCC	0.381																																						ENST00000355193.2																			0											c.(3796-3798)gacfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151904428_151904429insA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3797_3798insT	7.37:g.151904428_151904429insA	ENSP00000262189:p.Gly1266fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.D1266fs	p.D1266fs							24	4015_4016	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.3797_3798insT	CCDS5931.1																																																																																				0.381	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			43	102						43	102	---	---	---	---
SLC10A5	347051	broad.mit.edu	37	8	82606545	82606546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr8:82606545_82606546insC	ENST00000518568.1	-	1	1863_1864	c.662_663insG	c.(661-663)ggcfs	p.G221fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	221						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAGAGATAGCCCCCACCCCC	0.47																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(661-663)gtafs		solute carrier family 10, member 5																																				SO:0001589	frameshift_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606545_82606546insC		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.663dupG	8.37:g.82606550_82606550dupC	ENSP00000428612:p.Gly221fs						p.V221fs	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1863_1864	-			221					B2RN26	Frame_Shift_Ins	INS	ENST00000518568.1	37	c.662_663insG	CCDS34915.1																																																																																				0.470	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		7	522						7	522	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990|rs200855172	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(25-27)ggc>GGCTGTGGCTCCGGCTGTGGGggc	p.9_9G>GCGSGCGG	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.9_9G>GCGSGCGG	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	9						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668														2222	0.44369	0.5129	0.5231	5008	,	,		8015	0.5258		0.3807	False		,,,				2504	0.274					ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg		keratin associated protein 5-10																																				SO:0001652	inframe_insertion	387273					keratin filament		g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.25_45dupGGCTGTGGCTCCGGCTGTGGG	11.37:g.71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	Exception_encountered					KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV	p.7_8insGAVAPAV	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	49_50	+			7					B9EHA4	In_Frame_Ins	INS	ENST00000398531.1	37	c.24_25insGGCTGTGGCTCCGGCTGTGGG	CCDS41684.1																																																																																				0.668	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			95	222						95	222	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			5	10						5	10	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		10	458						10	458	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57508748	57508749	+	RNA	DEL	GA	GA	-			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr14:57508748_57508749delGA	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		TGAAGTTAAGGAGAGAAAAAAG	0.376																																						ENST00000554725.1																			0																																																			0							g.chr14:57508748_57508749delGA	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57508752_57508753delGA														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.376	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		15	41						15	41	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		27	653						27	653	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-	rs201985790		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)tttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(22-24)ttfs		olfactory receptor, family 7, subfamily E, member 24							49.0	50.0	50.0					19																	9361741		1897	4135	6032	SO:0001589	frameshift_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361741delT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.22delT	19.37:g.9361741delT	ENSP00000387523:p.Phe11fs						p.F11fs	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	136	+			11					B9EJD9|Q9UPJ1	Frame_Shift_Del	DEL	ENST00000456448.1	37	c.22delT	CCDS45955.1																																																																																				0.388	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			7	15						7	15	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	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	---	---	---	---
