#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HCRTR1	3061	broad.mit.edu	37	1	32089283	32089283	+	Silent	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:32089283C>T	ENST00000373706.5	+	5	1051	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	HCRTR1_ENST00000373705.1_Silent_p.L300L|HCRTR1_ENST00000403528.2_Silent_p.L300L|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	300					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AGCCAAGATGCTGATGGTGGT	0.632																																						uc009vtx.2		NA																	0				ovary(1)	1						c.(898-900)CTG>TTG		orexin receptor 1							84.0	60.0	68.0					1																	32089283		2203	4300	6503	SO:0001819	synonymous_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32089283C>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.898C>T	1.37:g.32089283C>T						HCRTR1_uc001btb.2_Silent_p.L125L|HCRTR1_uc001btc.3_Silent_p.L214L|HCRTR1_uc001btd.2_Silent_p.L300L|HCRTR1_uc010ogl.1_Silent_p.L300L	p.L300L	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	7	1283	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	300			Helical; Name=6; (Potential).		A8K3A6|Q9HBV6	Silent	SNP	ENST00000373706.5	37	c.898C>T	CCDS344.1																																																																																				0.632	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		8	46	0	0	0	0	8	46				
DLGAP3	58512	broad.mit.edu	37	1	35365842	35365842	+	Silent	SNP	G	G	A	rs149715442		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:35365842G>A	ENST00000373347.1	-	4	1408	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	DLGAP3_ENST00000235180.4_Silent_p.T380T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	380					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.T380T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTTGCCACCGGTGGGGTAAC	0.612																																						uc001byc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1138-1140)ACC>ACT		discs, large (Drosophila) homolog-associated		G		1,4405	2.1+/-5.4	0,1,2202	85.0	86.0	86.0		1140	-0.6	1.0	1	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	DLGAP3	NM_001080418.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		380/980	35365842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365842G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1140C>T	1.37:g.35365842G>A							p.T380T	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			2	1140	-		Myeloproliferative disorder(586;0.0393)	380					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1140C>T	CCDS30670.1																																																																																				0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		34	122	0	0	0	0	34	122				
LRIG2	9860	broad.mit.edu	37	1	113661886	113661886	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:113661886T>G	ENST00000361127.5	+	17	2910	c.2712T>G	c.(2710-2712)gaT>gaG	p.D904E	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	904					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTTGCTCAGATTGTTATGACA	0.413																																						uc001edf.1		NA																	0				ovary(3)	3						c.(2710-2712)GAT>GAG		leucine-rich repeats and immunoglobulin-like							134.0	126.0	129.0					1																	113661886		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113661886T>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2712T>G	1.37:g.113661886T>G	ENSP00000355396:p.Asp904Glu					LRIG2_uc009wgn.1_Missense_Mutation_p.D801E	p.D904E	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	17	2910	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	904			Cytoplasmic (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2712T>G	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260912	0.80246	.	.	ENSG00000198799	ENST00000361127	T	0.67523	-0.27	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.80616	2.505	0.40778	D	0.983142	D	0.65815	0.995	D	0.65443	0.935	T	0.79371	-0.1831	10	0.59425	D	0.04	.	11.4044	0.49889	0.0:0.0733:0.0:0.9267	.	904	O94898	LRIG2_HUMAN	E	904	ENSP00000355396:D904E	ENSP00000355396:D904E	D	+	3	2	LRIG2	113463409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.125000	0.42016	2.090000	0.63153	0.533000	0.62120	GAT		0.413	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		23	80	0	0	0	0	23	80				
SPTA1	6708	broad.mit.edu	37	1	158596754	158596754	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:158596754A>G	ENST00000368147.4	-	41	5888	c.5708T>C	c.(5707-5709)aTa>aCa	p.I1903T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1903					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGAGCCTCTATCTTGGAAGA	0.428																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5707-5709)ATA>ACA		spectrin, alpha, erythrocytic 1							145.0	143.0	144.0					1																	158596754		1848	4094	5942	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596754A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5708T>C	1.37:g.158596754A>G	ENSP00000357129:p.Ile1903Thr						p.I1903T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			41	5907	-	all_hematologic(112;0.0378)		1903			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5708T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970011	0.74246	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.87	4.87	0.63330	.	.	.	.	.	T	0.42291	0.1196	M	0.79258	2.445	0.46416	D	0.999037	P	0.45986	0.87	P	0.47915	0.561	T	0.41197	-0.9522	9	0.17369	T	0.5	.	13.4738	0.61297	1.0:0.0:0.0:0.0	.	1903	P02549	SPTA1_HUMAN	T	1903;1900	ENSP00000357130:I1903T;ENSP00000357129:I1900T	ENSP00000357129:I1900T	I	-	2	0	SPTA1	156863378	1.000000	0.71417	0.902000	0.35471	0.957000	0.61999	8.484000	0.90445	2.044000	0.60594	0.460000	0.39030	ATA		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		29	97	0	0	0	0	29	97				
TNFSF4	7292	broad.mit.edu	37	1	173155865	173155865	+	Silent	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:173155865G>A	ENST00000281834.3	-	3	478	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.N64N	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	114					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468																																						uc001giw.2		NA																	0				central_nervous_system(1)	1						c.(340-342)AAC>AAT		tumor necrosis factor (ligand) superfamily,							101.0	104.0	103.0					1																	173155865		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155865G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.342C>T	1.37:g.173155865G>A						TNFSF4_uc001giv.2_Silent_p.N64N	p.N114N	NM_003326	NP_003317	P23510	TNFL4_HUMAN			3	498	-			114			Extracellular (Potential).		Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.342C>T	CCDS1306.1																																																																																				0.468	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			13	48	0	0	0	0	13	48				
ASTN1	460	broad.mit.edu	37	1	176998825	176998825	+	Silent	SNP	G	G	A	rs61758728	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:176998825G>A	ENST00000367654.3	-	5	1276	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	ASTN1_ENST00000361833.2_Silent_p.N355N|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.N355N|ASTN1_ENST00000424564.2_Silent_p.N355N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	355					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTGGGGGTCGTTTTCTGCCT	0.507																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1063-1065)AAC>AAT		astrotactin isoform 1		G	,	0,4406		0,0,2203	68.0	64.0	65.0		1065,1065	-9.1	0.6	1	dbSNP_129	65	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	355/1295,355/1217	176998825	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176998825G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1065C>T	1.37:g.176998825G>A						ASTN1_uc001glb.1_Silent_p.N355N|ASTN1_uc001gld.1_Silent_p.N355N|ASTN1_uc009wwx.1_Silent_p.N355N|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	p.N355N	NM_004319	NP_004310	O14525	ASTN1_HUMAN			5	1277	-			355					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1065C>T																																																																																					0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		17	13	0	0	0	0	17	13				
BRINP3	339479	broad.mit.edu	37	1	190129849	190129849	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:190129849C>A	ENST00000367462.3	-	7	1364	c.1133G>T	c.(1132-1134)aGc>aTc	p.S378I	BRINP3_ENST00000534846.1_Missense_Mutation_p.S276I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	378					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTTGCTAAGGCTAAAAAGCTT	0.393																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1132-1134)AGC>ATC		family with sequence similarity 5, member C							129.0	127.0	127.0					1																	190129849		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190129849C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1133G>T	1.37:g.190129849C>A	ENSP00000356432:p.Ser378Ile					FAM5C_uc010pot.1_Missense_Mutation_p.S276I	p.S378I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	1365	-	Prostate(682;0.198)		378					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1133G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505176	0.64410	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.19105	2.43;2.17	5.6	4.69	0.59074	.	0.043056	0.85682	D	0.000000	T	0.37972	0.1023	L	0.53249	1.67	0.58432	D	0.999994	D;D	0.69078	0.997;0.995	D;P	0.63793	0.918;0.878	T	0.14254	-1.0479	10	0.62326	D	0.03	.	12.4387	0.55614	0.0:0.9181:0.0:0.0819	.	276;378	B7Z260;Q76B58	.;FAM5C_HUMAN	I	378;276	ENSP00000356432:S378I;ENSP00000438022:S276I	ENSP00000356432:S378I	S	-	2	0	FAM5C	188396472	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.403000	0.79983	1.369000	0.46134	0.573000	0.79308	AGC		0.393	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		39	44	1	0	9.85e-19	1.2e-18	39	44				
EPHX1	2052	broad.mit.edu	37	1	226027611	226027611	+	Silent	SNP	C	C	T	rs369274884		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:226027611C>T	ENST00000366837.4	+	6	1000	c.804C>T	c.(802-804)ttC>ttT	p.F268F	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.F268F	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	268					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552																																						uc001hpk.2		NA																	0				ovary(3)|lung(1)	4						c.(802-804)TTC>TTT		epoxide hydrolase 1		C	,	0,4406		0,0,2203	194.0	177.0	183.0		804,804	-9.1	0.0	1		183	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHX1	NM_000120.3,NM_001136018.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	268/456,268/456	226027611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027611C>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.804C>T	1.37:g.226027611C>T						EPHX1_uc001hpl.2_Silent_p.F268F	p.F268F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			6	884	+	Breast(184;0.197)		268					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	c.804C>T	CCDS1547.1																																																																																				0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		41	147	0	0	0	0	41	147				
TUBAL3	79861	broad.mit.edu	37	10	5435651	5435651	+	Silent	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:5435651C>T	ENST00000380419.3	-	4	1207	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A	TUBAL3_ENST00000479328.1_Silent_p.A350A	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	390					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCTCCACAATCGCCGTGGTGT	0.592																																						uc001ihy.2		NA																	0				skin(1)	1						c.(1168-1170)GCG>GCA		tubulin, alpha-like 3							75.0	65.0	69.0					10																	5435651		2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435651C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1170G>A	10.37:g.5435651C>T						TUBAL3_uc001ihz.2_Silent_p.A350A	p.A390A	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	1210	-			390					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.1170G>A	CCDS7066.2																																																																																				0.592	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		31	46	0	0	0	0	31	46				
BICC1	80114	broad.mit.edu	37	10	60549208	60549208	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:60549208G>A	ENST00000373886.3	+	7	791	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	263					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAACACTAGTGCTGTGAAGGT	0.328																																						uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(787-789)GCT>ACT		bicaudal C homolog 1							101.0	98.0	99.0					10																	60549208		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60549208G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.787G>A	10.37:g.60549208G>A	ENSP00000362993:p.Ala263Thr						p.A263T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			7	787	+			263						Missense_Mutation	SNP	ENST00000373886.3	37	c.787G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833336	0.71258	.	.	ENSG00000122870	ENST00000373886	T	0.45276	0.9	5.88	5.88	0.94601	.	0.045604	0.85682	D	0.000000	T	0.36991	0.0987	L	0.48642	1.525	0.80722	D	1	B	0.34200	0.441	B	0.22152	0.038	T	0.10451	-1.0629	10	0.26408	T	0.33	-12.9188	20.2422	0.98381	0.0:0.0:1.0:0.0	.	263	Q9H694	BICC1_HUMAN	T	263	ENSP00000362993:A263T	ENSP00000362993:A263T	A	+	1	0	BICC1	60219214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.531000	0.67148	2.782000	0.95742	0.655000	0.94253	GCT		0.328	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		31	36	0	0	0	0	31	36				
LRRTM3	347731	broad.mit.edu	37	10	68686715	68686715	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:68686715T>C	ENST00000361320.4	+	2	619	c.41T>C	c.(40-42)gTa>gCa	p.V14A	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	14					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGATCAGCTGTAGCACTGGTT	0.413																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(40-42)GTA>GCA		leucine rich repeat transmembrane neuronal 3							85.0	78.0	80.0					10																	68686715		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686715T>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.41T>C	10.37:g.68686715T>C	ENSP00000355187:p.Val14Ala					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.V14A	p.V14A	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	591	+			14					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.41T>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367745	0.24771	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.48836	0.8	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000011	T	0.33527	0.0866	N	0.19112	0.55	0.39778	D	0.972268	B;B	0.27013	0.166;0.06	B;B	0.22386	0.017;0.039	T	0.16988	-1.0384	10	0.32370	T	0.25	.	14.8341	0.70169	0.0:0.0:0.0:1.0	.	14;14	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	A	14	ENSP00000355187:V14A	ENSP00000355187:V14A	V	+	2	0	LRRTM3	68356721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.327000	0.52045	2.203000	0.70933	0.533000	0.62120	GTA		0.413	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		22	28	0	0	0	0	22	28				
OR4C16	219428	broad.mit.edu	37	11	55339991	55339991	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:55339991T>A	ENST00000314634.3	+	1	388	c.388T>A	c.(388-390)Tac>Aac	p.Y130N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCCCCTGCACTACATGACCAT	0.502																																						uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(388-390)TAC>AAC		olfactory receptor, family 4, subfamily C,							184.0	175.0	178.0					11																	55339991		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339991T>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.388T>A	11.37:g.55339991T>A	ENSP00000324913:p.Tyr130Asn						p.Y130N	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	388	+		all_epithelial(135;0.0748)	130			Cytoplasmic (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.388T>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176863	0.78564	.	.	ENSG00000181935	ENST00000314634	T	0.33438	1.41	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.62563	0.2438	H	0.97158	3.95	0.42479	D	0.992858	D	0.60160	0.987	P	0.56648	0.803	T	0.76517	-0.2930	10	0.87932	D	0	.	12.6625	0.56822	0.0:0.0:0.0:1.0	.	130	Q8NGL9	OR4CG_HUMAN	N	130	ENSP00000324913:Y130N	ENSP00000324913:Y130N	Y	+	1	0	OR4C16	55096567	1.000000	0.71417	0.900000	0.35374	0.710000	0.40934	6.538000	0.73852	2.097000	0.63578	0.448000	0.29417	TAC		0.502	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		61	95	0	0	0	0	61	95				
OR5L2	26338	broad.mit.edu	37	11	55594850	55594850	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:55594850C>A	ENST00000378397.1	+	1	156	c.156C>A	c.(154-156)agC>agA	p.S52R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCAGGTCAGCTCTCGGCTCC	0.478										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(154-156)AGC>AGA		olfactory receptor, family 5, subfamily L,							294.0	262.0	273.0					11																	55594850		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594850C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.156C>A	11.37:g.55594850C>A	ENSP00000367650:p.Ser52Arg	HNSCC(27;0.073)					p.S52R	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	156	+		all_epithelial(135;0.208)	52			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.156C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	7.019	0.558318	0.13436	.	.	ENSG00000205030	ENST00000378397	T	0.01099	5.34	5.31	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.102357	0.43919	N	0.000508	T	0.02012	0.0063	M	0.71920	2.185	0.09310	N	1	B	0.17268	0.021	B	0.21917	0.037	T	0.31998	-0.9923	10	0.72032	D	0.01	-29.1845	9.4335	0.38624	0.0:0.7641:0.0:0.2359	.	52	Q8NGL0	OR5L2_HUMAN	R	52	ENSP00000367650:S52R	ENSP00000367650:S52R	S	+	3	2	OR5L2	55351426	0.000000	0.05858	0.442000	0.26870	0.004000	0.04260	-0.069000	0.11542	0.765000	0.33221	-0.169000	0.13324	AGC		0.478	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		101	220	1	0	4.49e-49	5.53e-49	101	220				
MTA2	9219	broad.mit.edu	37	11	62362870	62362870	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:62362870T>C	ENST00000278823.2	-	14	1738	c.1349A>G	c.(1348-1350)aAc>aGc	p.N450S	MTA2_ENST00000527204.1_Missense_Mutation_p.N277S|MTA2_ENST00000524902.1_Missense_Mutation_p.N277S	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	450					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTTTGTCTGTTCTTAGCCAG	0.537																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(1348-1350)AAC>AGC		metastasis-associated protein 2							166.0	147.0	153.0					11																	62362870		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62362870T>C	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1349A>G	11.37:g.62362870T>C	ENSP00000278823:p.Asn450Ser					MTA2_uc010rlx.1_Missense_Mutation_p.N277S	p.N450S	NM_004739	NP_004730	O94776	MTA2_HUMAN			14	1730	-			450					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1349A>G	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984125	0.35036	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.42131	1.58;0.98;0.98	5.34	1.38	0.22167	.	0.087584	0.85682	D	0.000000	T	0.34948	0.0915	L	0.51422	1.61	0.48452	D	0.999652	B	0.16603	0.018	B	0.17098	0.017	T	0.15780	-1.0425	10	0.37606	T	0.19	-22.7477	11.3423	0.49539	0.0:0.0:0.4432:0.5568	.	450	O94776	MTA2_HUMAN	S	450;277;277	ENSP00000278823:N450S;ENSP00000431346:N277S;ENSP00000431797:N277S	ENSP00000278823:N450S	N	-	2	0	MTA2	62119446	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.895000	0.28363	0.306000	0.22856	-0.316000	0.08728	AAC		0.537	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		69	71	0	0	0	0	69	71				
PRKRIR	5612	broad.mit.edu	37	11	76061960	76061960	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:76061960G>C	ENST00000260045.3	-	5	2339	c.2234C>G	c.(2233-2235)aCa>aGa	p.T745R	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	745					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T745R(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGACTTACTTGTATAGAGTTT	0.313																																						uc001oxh.1		NA																	1	Substitution - Missense(1)	p.T745R(1)	pancreas(1)	ovary(2)|pancreas(1)	3						c.(2233-2235)ACA>AGA		protein-kinase, interferon-inducible double							16.0	16.0	16.0					11																	76061960		2096	4216	6312	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76061960G>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.2234C>G	11.37:g.76061960G>C	ENSP00000260045:p.Thr745Arg					PRKRIR_uc010rrz.1_Missense_Mutation_p.T570R	p.T745R	NM_004705	NP_004696	O43422	P52K_HUMAN			5	2234	-			745					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.2234C>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741174	0.49151	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.67	5.67	0.87782	.	0.306262	0.39615	N	0.001308	T	0.41903	0.1179	N	0.08118	0	0.41551	D	0.988574	B	0.19583	0.037	B	0.23018	0.043	T	0.22871	-1.0204	9	0.25106	T	0.35	.	20.3065	0.98633	0.0:0.0:1.0:0.0	.	745	O43422	P52K_HUMAN	R	570;745	.	ENSP00000260045:T745R	T	-	2	0	PRKRIR	75739608	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.912000	0.75753	2.881000	0.98747	0.638000	0.83543	ACA		0.313	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		6	23	0	0	0	0	6	23				
DYNC2H1	79659	broad.mit.edu	37	11	102988373	102988373	+	Silent	SNP	A	A	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:102988373A>T	ENST00000375735.2	+	6	924	c.780A>T	c.(778-780)ggA>ggT	p.G260G	DYNC2H1_ENST00000398093.3_Silent_p.G260G|DYNC2H1_ENST00000334267.7_Silent_p.G260G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	260	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCATTTGGAAGGTTTGTTC	0.289																																						uc001pho.2		NA																	0					0						c.(778-780)GGA>GGT		dynein, cytoplasmic 2, heavy chain 1							87.0	78.0	81.0					11																	102988373		1792	4063	5855	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102988373A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.780A>T	11.37:g.102988373A>T						DYNC2H1_uc001phn.1_Silent_p.G260G|DYNC2H1_uc009yxe.1_Silent_p.G260G	p.G260G	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	6	924	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	260			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.780A>T	CCDS53701.1																																																																																				0.289	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		11	356	0	0	0	0	11	356				
H2AFJ	55766	broad.mit.edu	37	12	14927722	14927722	+	Silent	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:14927722C>T	ENST00000544848.1	+	1	453	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	106						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TCGCTCAGGGCGGCGTCCTGC	0.597																																						uc009zia.2		NA																	0				ovary(1)	1						c.(316-318)GGC>GGT		H2A histone family, member J							69.0	69.0	69.0					12																	14927722		2203	4300	6503	SO:0001819	synonymous_variant	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927722C>T	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"""Histones / Replication-independent"""	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.318C>T	12.37:g.14927722C>T						H2AFJ_uc001rch.3_RNA	p.G106G	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN			1	453	+			106					Q9NV63	Silent	SNP	ENST00000544848.1	37	c.318C>T	CCDS31752.1																																																																																				0.597	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		4	108	0	0	0	0	4	108				
HELB	92797	broad.mit.edu	37	12	66717930	66717930	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:66717930A>G	ENST00000247815.4	+	10	2524	c.2465A>G	c.(2464-2466)aAt>aGt	p.N822S		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	822					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTGCTAAAAATAAGCGTGAC	0.333																																						uc001sti.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2464-2466)AAT>AGT		helicase (DNA) B							94.0	101.0	99.0					12																	66717930		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66717930A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2465A>G	12.37:g.66717930A>G	ENSP00000247815:p.Asn822Ser					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.N822S	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	10	2493	+			822					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2465A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739237	0.15642	.	.	ENSG00000127311	ENST00000247815	T	0.10860	2.83	5.37	-2.48	0.06423	.	0.552425	0.18213	N	0.148104	T	0.04952	0.0133	L	0.28115	0.83	0.18873	N	0.999985	B	0.22909	0.077	B	0.20384	0.029	T	0.34304	-0.9834	9	.	.	.	-11.5853	2.307	0.04176	0.4492:0.2937:0.1479:0.1092	.	822	Q8NG08	HELB_HUMAN	S	822	ENSP00000247815:N822S	.	N	+	2	0	HELB	65004197	0.931000	0.31567	0.950000	0.38849	0.702000	0.40608	0.157000	0.16402	-0.146000	0.11274	0.533000	0.62120	AAT		0.333	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			11	42	0	0	0	0	11	42				
TMEM132D	121256	broad.mit.edu	37	12	130185156	130185156	+	Missense_Mutation	SNP	G	G	A	rs372764040		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:130185156G>A	ENST00000422113.2	-	2	493	c.167C>T	c.(166-168)gCg>gTg	p.A56V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGACGTCCGCGTTGTTGAT	0.557																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(166-168)GCG>GTG		transmembrane protein 132D precursor		G	VAL/ALA	0,4406		0,0,2203	92.0	69.0	77.0		167	5.3	0.0	12		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	56/1100	130185156	1,13005	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185156G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.167C>T	12.37:g.130185156G>A	ENSP00000408581:p.Ala56Val						p.A56V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	495	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	56			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.167C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939228	0.92526	0.0	1.16E-4	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.33	5.33	0.75918	.	0.323515	0.26463	N	0.024223	T	0.39358	0.1075	M	0.74546	2.27	0.48452	D	0.999655	D	0.89917	1.0	D	0.71414	0.973	T	0.10109	-1.0644	9	.	.	.	-41.0693	19.0288	0.92946	0.0:0.0:1.0:0.0	.	56	Q14C87	T132D_HUMAN	V	56	ENSP00000408581:A56V	.	A	-	2	0	TMEM132D	128751109	1.000000	0.71417	0.032000	0.17829	0.755000	0.42902	7.648000	0.83479	2.472000	0.83506	0.555000	0.69702	GCG		0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		27	36	0	0	0	0	27	36				
PCK2	5106	broad.mit.edu	37	14	24572431	24572431	+	Missense_Mutation	SNP	C	C	T	rs145351624		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr14:24572431C>T	ENST00000216780.4	+	9	1703	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	PCK2_ENST00000561286.1_Missense_Mutation_p.R345C|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.R491C|PCK2_ENST00000545054.2_Missense_Mutation_p.R345C	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	479					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CAGCGCCATGCGCTCTGAGTC	0.572																																						uc001wlt.2		NA																	0				ovary(1)	1						c.(1435-1437)CGC>TGC		mitochondrial phosphoenolpyruvate carboxykinase		C	CYS/ARG	0,4406		0,0,2203	117.0	89.0	99.0		1435	5.6	1.0	14	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK2	NM_004563.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	479/641	24572431	1,13005	2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572431C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1435C>T	14.37:g.24572431C>T	ENSP00000216780:p.Arg479Cys					NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R491C|PCK2_uc010tnw.1_Missense_Mutation_p.R345C|PCK2_uc010tnx.1_Missense_Mutation_p.R345C|PCK2_uc001wlu.3_Intron	p.R479C	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	1567	+			479					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.1435C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303901	0.81136	0.0	1.16E-4	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04654	3.58;3.58	5.61	5.61	0.85477	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	M	0.93328	3.405	0.80722	D	1	D;D	0.71674	0.998;0.985	D;P	0.65323	0.934;0.678	T	0.05649	-1.0872	10	0.87932	D	0	-10.1778	12.4421	0.55631	0.1675:0.8325:0.0:0.0	.	479;479	Q16822;Q6IB91	PCKGM_HUMAN;.	C	479;345	ENSP00000216780:R479C;ENSP00000441826:R345C	ENSP00000216780:R479C	R	+	1	0	PCK2	23642271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.864000	0.48404	2.813000	0.96785	0.655000	0.94253	CGC		0.572	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		3	26	0	0	0	0	3	26				
NFATC4	4776	broad.mit.edu	37	14	24842446	24842446	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr14:24842446C>T	ENST00000250373.4	+	4	1570	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555167.1_Missense_Mutation_p.R12W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R490W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R407W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R490W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R540W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R509W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R407W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R465W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R12W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R12W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R477W|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.R490W|NFATC4_ENST00000413692.2_Missense_Mutation_p.R540W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R509W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R407W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R465W|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000557451.1_Missense_Mutation_p.R407W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R509W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R465W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R477W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	477	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AAGGAACCTGCGGCCTCATGC	0.567																																						uc001wpc.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1429-1431)CGG>TGG		nuclear factor of activated T-cells,							83.0	73.0	77.0					14																	24842446		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842446C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1429C>T	14.37:g.24842446C>T	ENSP00000250373:p.Arg477Trp					NFATC4_uc010tok.1_Missense_Mutation_p.R540W|NFATC4_uc010tol.1_Missense_Mutation_p.R540W|NFATC4_uc010alr.2_Missense_Mutation_p.R540W|NFATC4_uc010als.2_Missense_Mutation_p.R490W|NFATC4_uc010tom.1_Missense_Mutation_p.R490W|NFATC4_uc010ton.1_Missense_Mutation_p.R490W|NFATC4_uc010too.1_Missense_Mutation_p.R490W|NFATC4_uc010alt.2_Missense_Mutation_p.R509W|NFATC4_uc010top.1_Missense_Mutation_p.R509W|NFATC4_uc010toq.1_Missense_Mutation_p.R509W|NFATC4_uc010alu.2_Missense_Mutation_p.R169W|NFATC4_uc010tor.1_Missense_Mutation_p.R477W|NFATC4_uc010tos.1_Missense_Mutation_p.R407W|NFATC4_uc010tot.1_Missense_Mutation_p.R465W|NFATC4_uc010tou.1_Missense_Mutation_p.R407W|NFATC4_uc010tov.1_Missense_Mutation_p.R465W|NFATC4_uc010tow.1_Missense_Mutation_p.R407W|NFATC4_uc010alv.2_Missense_Mutation_p.R465W|NFATC4_uc010tox.1_Missense_Mutation_p.R407W|NFATC4_uc001wpd.2_Missense_Mutation_p.R12W|NFATC4_uc010toy.1_Missense_Mutation_p.R12W|NFATC4_uc010toz.1_Missense_Mutation_p.R12W|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	p.R477W	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	4	1750	+			477			RHD.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1429C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273379	0.59649	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	4.96	0.4	0.16331	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;P;D;P;D;D;D;D;D;D;D;D;P;D	0.97110	0.999;0.999;0.888;0.999;0.828;0.995;0.999;0.999;0.999;0.999;0.995;0.995;1.0;0.888;0.997	T	0.66555	-0.5894	10	0.87932	D	0	-6.6282	13.1298	0.59375	0.731:0.269:0.0:0.0	.	465;465;509;509;490;490;490;540;540;465;407;509;454;540;477	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	540;540;490;490;490;509;509;509;477;477;477;407;407;407;465;407;465;465;12;12;12	ENSP00000388910:R540W;ENSP00000452039:R540W;ENSP00000451224:R490W;ENSP00000450644:R490W;ENSP00000388668:R490W;ENSP00000439350:R509W;ENSP00000452270:R509W;ENSP00000451502:R509W;ENSP00000451151:R477W;ENSP00000250373:R477W;ENSP00000450590:R477W;ENSP00000452349:R407W;ENSP00000450469:R407W;ENSP00000450733:R407W;ENSP00000451454:R465W;ENSP00000451284:R407W;ENSP00000396788:R465W;ENSP00000450686:R465W;ENSP00000450810:R12W;ENSP00000451183:R12W;ENSP00000451395:R12W	ENSP00000250373:R477W	R	+	1	2	NFATC4	23912286	0.078000	0.21339	1.000000	0.80357	0.993000	0.82548	-0.128000	0.10531	0.220000	0.20860	-0.283000	0.09986	CGG		0.567	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		12	42	0	0	0	0	12	42				
SYNE3	161176	broad.mit.edu	37	14	95921839	95921839	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr14:95921839T>G	ENST00000334258.5	-	5	1026	c.1012A>C	c.(1012-1014)Aag>Cag	p.K338Q	SYNE3_ENST00000554873.1_Missense_Mutation_p.K95Q|SYNE3_ENST00000557275.1_Missense_Mutation_p.K338Q|SYNE3_ENST00000553340.1_Missense_Mutation_p.K338Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	338					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TCCAGCTGCTTAATCTGCTGC	0.667																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(1012-1014)AAG>CAG		nesprin-3							43.0	49.0	47.0					14																	95921839		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95921839T>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1012A>C	14.37:g.95921839T>G	ENSP00000334308:p.Lys338Gln					C14orf49_uc010avi.2_Missense_Mutation_p.K338Q|C14orf49_uc001yej.1_Missense_Mutation_p.K338Q	p.K338Q	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	5	1027	-		all_cancers(154;0.0937)	338			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1012A>C	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.449921	0.01080	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.34472	3.63;1.36;3.64;3.01	4.99	-9.98	0.00438	.	2.021940	0.03133	N	0.165439	T	0.12732	0.0309	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.10450	0.003;0.005;0.001	T	0.16928	-1.0386	10	0.15499	T	0.54	-7.0361	10.4673	0.44616	0.0:0.2508:0.2988:0.4504	.	338;338;338	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	Q	338;95;338;338	ENSP00000334308:K338Q;ENSP00000452154:K95Q;ENSP00000450562:K338Q;ENSP00000450774:K338Q	ENSP00000334308:K338Q	K	-	1	0	C14orf49	94991592	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.675000	0.05227	-1.517000	0.01780	-0.666000	0.03841	AAG		0.667	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		3	114	0	0	0	0	3	114				
HERC2	8924	broad.mit.edu	37	15	28389924	28389924	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr15:28389924C>T	ENST00000261609.7	-	72	11143	c.11035G>A	c.(11035-11037)Gag>Aag	p.E3679K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGCGCAGCTCGCTGGACCAG	0.572																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(11035-11037)GAG>AAG		hect domain and RLD 2							80.0	65.0	70.0					15																	28389924		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389924C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11035G>A	15.37:g.28389924C>T	ENSP00000261609:p.Glu3679Lys						p.E3679K	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	72	11141	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3679						Missense_Mutation	SNP	ENST00000261609.7	37	c.11035G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717178	0.96839	.	.	ENSG00000128731	ENST00000261609	T	0.38077	1.16	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	L	0.41961	1.31	0.80722	D	1	D	0.56746	0.977	P	0.46389	0.515	T	0.37267	-0.9713	10	0.72032	D	0.01	.	19.3195	0.94233	0.0:1.0:0.0:0.0	.	3679	O95714	HERC2_HUMAN	K	3679	ENSP00000261609:E3679K	ENSP00000261609:E3679K	E	-	1	0	HERC2	26063519	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.442000	0.80503	2.638000	0.89438	0.655000	0.94253	GAG		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	34	0	0	0	0	15	34				
DHX33	56919	broad.mit.edu	37	17	5357145	5357145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:5357145G>A	ENST00000225296.3	-	7	1503	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	DHX33_ENST00000433302.3_Nonsense_Mutation_p.Q211*	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	435	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCTACCTCTGGATCTCTGGC	0.562																																						uc002gca.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1303-1305)CAG>TAG		DEAH (Asp-Glu-Ala-His) box polypeptide 33							88.0	87.0	88.0					17																	5357145		2203	4300	6503	SO:0001587	stop_gained	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5357145G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1303C>T	17.37:g.5357145G>A	ENSP00000225296:p.Gln435*					DHX33_uc002gbz.2_Nonsense_Mutation_p.Q206*|DHX33_uc002gcb.2_Nonsense_Mutation_p.Q262*|DHX33_uc010clf.2_Nonsense_Mutation_p.Q211*	p.Q435*	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			7	1305	-			435			Helicase C-terminal.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Nonsense_Mutation	SNP	ENST00000225296.3	37	c.1303C>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	37	6.492947	0.97612	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	.	.	.	5.64	5.64	0.86602	.	0.100730	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8715	0.92317	0.0:0.0:1.0:0.0	.	.	.	.	X	435;211	.	ENSP00000225296:Q435X	Q	-	1	0	DHX33	5297869	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.458000	0.97634	2.937000	0.99478	0.650000	0.86243	CAG		0.562	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		5	41	0	0	0	0	5	41				
EPN2	22905	broad.mit.edu	37	17	19188962	19188962	+	Missense_Mutation	SNP	C	C	T	rs199661847		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:19188962C>T	ENST00000314728.5	+	4	1109	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	EPN2_ENST00000395620.2_Intron|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Intron|EPN2_ENST00000571254.1_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.R209C|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	209					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					cccccagcaccgcacaggggc	0.697																																						uc002gvd.3		NA																	0				skin(1)	1						c.(625-627)CGC>TGC		epsin 2 isoform b		C	,CYS/ARG,	0,4268		0,0,2134	6.0	7.0	7.0		,625,	3.2	1.0	17		7	7,8415		0,7,4204	yes	intron,missense,intron	EPN2	NM_001102664.1,NM_014964.4,NM_148921.3	,180,	0,7,6338	TT,TC,CC		0.0831,0.0,0.0552	,probably-damaging,	,209/642,	19188962	7,12683	2134	4211	6345	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19188962C>T	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.625C>T	17.37:g.19188962C>T	ENSP00000320543:p.Arg209Cys					EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Intron|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Intron|EPN2_uc010vyp.1_Intron|EPN2_uc010vyq.1_Intron|EPN2_uc002gvh.1_Missense_Mutation_p.R209C	p.R209C	NM_014964	NP_055779	O95208	EPN2_HUMAN			4	1073	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		209					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.625C>T	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429524	0.43122	0.0	8.31E-4	ENSG00000072134	ENST00000314728;ENST00000395626	T;T	0.33654	2.41;1.4	5.22	3.2	0.36748	.	0.439887	0.22145	N	0.063989	T	0.14141	0.0342	N	0.03115	-0.41	0.80722	D	1	B;D	0.56287	0.001;0.975	B;B	0.38296	0.001;0.27	T	0.05068	-1.0908	10	0.66056	D	0.02	-2.6403	7.8821	0.29629	0.0:0.8111:0.0:0.1889	.	209;209	E9PBC1;O95208	.;EPN2_HUMAN	C	209	ENSP00000320543:R209C;ENSP00000378988:R209C	ENSP00000320543:R209C	R	+	1	0	EPN2	19129555	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	0.424000	0.21330	1.440000	0.47531	0.655000	0.94253	CGC		0.697	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		3	10	0	0	0	0	3	10				
TLCD1	116238	broad.mit.edu	37	17	27051713	27051713	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:27051713G>C	ENST00000292090.3	-	4	669	c.559C>G	c.(559-561)Cag>Gag	p.Q187E	SNORD4A_ENST00000459174.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.Q140E|AC010761.14_ENST00000587898.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	187	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGTAGGCCTGAGGGGCCAGG	0.502																																						uc002hco.2		NA																	0					0						c.(559-561)CAG>GAG		TLC domain containing 1 isoform 1							129.0	106.0	114.0					17																	27051713		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27051713G>C	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.559C>G	17.37:g.27051713G>C	ENSP00000292090:p.Gln187Glu					TLCD1_uc010waw.1_Missense_Mutation_p.Q140E	p.Q187E	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN			4	674	-	Lung NSC(42;0.00431)		187			TLC.|Helical; (Potential).		A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.559C>G	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857205	0.91433	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.85013	-1.93;-1.93	5.79	5.79	0.91817	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.963	D;P	0.83275	0.996;0.651	D	0.88319	0.2961	10	0.30854	T	0.27	-7.2582	17.1798	0.86852	0.0:0.0:1.0:0.0	.	140;187	A8MYP9;Q96CP7	.;TLCD1_HUMAN	E	187;140	ENSP00000292090:Q187E;ENSP00000378391:Q140E	ENSP00000292090:Q187E	Q	-	1	0	TLCD1	24075840	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.507000	0.90522	2.743000	0.94032	0.462000	0.41574	CAG		0.502	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		7	108	0	0	0	0	7	108				
AATK	9625	broad.mit.edu	37	17	79108261	79108261	+	Silent	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:79108261G>A	ENST00000326724.4	-	2	120	c.96C>T	c.(94-96)ctC>ctT	p.L32L	RP11-149I9.2_ENST00000570413.1_RNA|MIR1250_ENST00000408098.1_RNA|AATK_ENST00000417379.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	32					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCACCACGGCGAGGGAGGATG	0.677																																						uc010dia.2		NA																	0				stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(94-96)CTC>CTT		apoptosis-associated tyrosine kinase							38.0	47.0	44.0					17																	79108261		1568	3580	5148	SO:0001819	synonymous_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79108261G>A	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.96C>T	17.37:g.79108261G>A						MIR1250_hsa-mir-1250|MI0006385_5'Flank	p.L32L	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		2	176	-	all_neural(118;0.101)		32			Helical; (Potential).		O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	c.96C>T	CCDS45807.1																																																																																				0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		16	25	0	0	0	0	16	25				
ZNF24	7572	broad.mit.edu	37	18	32917689	32917689	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr18:32917689T>C	ENST00000261332.6	-	4	793	c.614A>G	c.(613-615)gAg>gGg	p.E205G	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.E205G	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	205					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGAAGGAAGCTCCTGCTTTGG	0.388																																					Colon(42;769 913 8916 19469 46270)	uc002kyt.2		NA																	0					0						c.(613-615)GAG>GGG		zinc finger protein 24							99.0	107.0	105.0					18																	32917689		2203	4298	6501	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917689T>C	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.614A>G	18.37:g.32917689T>C	ENSP00000261332:p.Glu205Gly					ZNF24_uc002kys.2_Missense_Mutation_p.E205G	p.E205G	NM_006965	NP_008896	P17028	ZNF24_HUMAN			4	771	-			205					O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.614A>G	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199528	0.38806	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.05855	3.38;3.38	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000040	T	0.06325	0.0163	L	0.29908	0.895	0.35406	D	0.791981	B	0.22080	0.064	B	0.15870	0.014	T	0.20075	-1.0286	10	0.46703	T	0.11	.	13.3952	0.60849	0.0:0.0:0.0:1.0	.	205	P17028	ZNF24_HUMAN	G	205	ENSP00000261332:E205G;ENSP00000382015:E205G	ENSP00000261332:E205G	E	-	2	0	ZNF24	31171687	0.818000	0.29161	0.995000	0.50966	0.861000	0.49209	1.617000	0.36943	2.269000	0.75478	0.533000	0.62120	GAG		0.388	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		56	42	0	0	0	0	56	42				
NEDD4L	23327	broad.mit.edu	37	18	55996286	55996286	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr18:55996286G>A	ENST00000400345.3	+	10	1023	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	NEDD4L_ENST00000456986.1_Missense_Mutation_p.R126Q|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R247Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R247Q|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R247Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R126Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R239Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R239Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R126Q	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	247					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCAGCACACCGGCGCTTCCGC	0.602																																						uc002lgy.2		NA																	0				lung(4)	4						c.(739-741)CGG>CAG		neural precursor cell expressed, developmentally							38.0	44.0	42.0					18																	55996286		2095	4225	6320	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55996286G>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.740G>A	18.37:g.55996286G>A	ENSP00000383199:p.Arg247Gln					NEDD4L_uc002lgz.2_Missense_Mutation_p.R247Q|NEDD4L_uc002lgx.2_Missense_Mutation_p.R247Q|NEDD4L_uc010xee.1_Missense_Mutation_p.R126Q|NEDD4L_uc002lhc.2_Missense_Mutation_p.R239Q|NEDD4L_uc002lhd.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhb.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhe.2_Missense_Mutation_p.R239Q|NEDD4L_uc002lhf.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhg.2_Missense_Mutation_p.R126Q|NEDD4L_uc002lhh.2_Missense_Mutation_p.R126Q|NEDD4L_uc010dpm.1_Missense_Mutation_p.R98Q	p.R247Q	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			10	1014	+			247					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.740G>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239032	0.58995	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.34859	1.36;1.35;1.34;1.37;1.86;1.89;1.77;1.87;1.87;1.89	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.61703	1.905	0.58432	D	0.999997	D;P;P;D;D;P;P	0.76494	0.999;0.589;0.589;0.957;0.999;0.812;0.589	P;B;B;B;D;B;B	0.71870	0.905;0.065;0.065;0.289;0.975;0.103;0.065	T	0.41431	-0.9509	10	0.17832	T	0.49	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	247;239;239;126;247;247;247	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	Q	247;247;247;247;126;126;239;126;126;126	ENSP00000383199:R247Q;ENSP00000372301:R247Q;ENSP00000348847:R247Q;ENSP00000256830:R247Q;ENSP00000256832:R126Q;ENSP00000411947:R126Q;ENSP00000350569:R239Q;ENSP00000393395:R126Q;ENSP00000405440:R126Q;ENSP00000389406:R126Q	ENSP00000256830:R247Q	R	+	2	0	NEDD4L	54147266	1.000000	0.71417	0.222000	0.23844	0.151000	0.21798	8.875000	0.92372	2.836000	0.97738	0.655000	0.94253	CGG		0.602	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			22	14	0	0	0	0	22	14				
TLE6	79816	broad.mit.edu	37	19	2987144	2987144	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:2987144A>G	ENST00000246112.4	+	7	650	c.449A>G	c.(448-450)aAg>aGg	p.K150R	TLE6_ENST00000452088.1_Missense_Mutation_p.K27R|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	150					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTGGGACAAGGAGCCTTGG	0.597																																						uc002lwu.2		NA																	0				ovary(1)	1						c.(79-81)AAG>AGG		transducin-like enhancer of split 6 isoform 2							82.0	79.0	80.0					19																	2987144		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2987144A>G	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.449A>G	19.37:g.2987144A>G	ENSP00000246112:p.Lys150Arg					TLE6_uc002lwt.2_Missense_Mutation_p.K150R|TLE6_uc010dtg.2_Missense_Mutation_p.K150R|TLE6_uc002lwv.2_5'Flank	p.K27R	NM_024760	NP_079036	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	480	+			27					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.80A>G	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776027	0.49786	.	.	ENSG00000104953	ENST00000447920;ENST00000453329;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.20598	2.06;2.17	2.79	-4.79	0.03200	.	.	.	.	.	T	0.11153	0.0272	N	0.19112	0.55	0.09310	N	1	P;P;P	0.45827	0.867;0.764;0.764	P;B;B	0.47645	0.553;0.215;0.324	T	0.13548	-1.0505	9	0.11794	T	0.64	.	2.0571	0.03583	0.4702:0.2691:0.1478:0.1129	.	150;27;27	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	R	150;150;150;27;27	ENSP00000246112:K150R;ENSP00000406893:K27R	ENSP00000246112:K150R	K	+	2	0	TLE6	2938144	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.305000	0.02738	-0.884000	0.03976	-0.501000	0.04562	AAG		0.597	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		19	89	0	0	0	0	19	89				
ZNF208	7757	broad.mit.edu	37	19	22156143	22156143	+	Missense_Mutation	SNP	A	A	G	rs112237751		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:22156143A>G	ENST00000397126.4	-	4	1841	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTGAGGACCACTTATAG	0.348																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1393-1395)TCC>CCC		zinc finger protein 208							24.0	25.0	25.0					19																	22156143		1933	4102	6035	SO:0001583	missense	7757							g.chr19:22156143A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1693T>C	19.37:g.22156143A>G	ENSP00000380315:p.Ser565Pro					ZNF208_uc002nqo.1_Intron	p.S465P	NM_007153	NP_009084					5	1542	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1393T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	2.429	-0.331352	0.05314	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.37411	1.2	3.06	-6.12	0.02124	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35682	0.0940	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.58331	0.837	T	0.10800	-1.0614	8	0.30854	T	0.27	.	1.299	0.02076	0.1724:0.1725:0.3825:0.2726	.	465	O43345	ZN208_HUMAN	P	565;465	ENSP00000380315:S565P	ENSP00000380315:S565P	S	-	1	0	ZNF208	21947983	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.220000	0.09215	-2.724000	0.00387	-0.760000	0.03462	TCC		0.348	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	56	0	0	0	0	3	56				
WDR62	284403	broad.mit.edu	37	19	36550887	36550887	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:36550887T>G	ENST00000270301.7	+	3	287	c.287T>G	c.(286-288)tTg>tGg	p.L96W	WDR62_ENST00000401500.2_Missense_Mutation_p.L96W|WDR62_ENST00000388999.3_Missense_Mutation_p.L96W|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	96					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGTGATTTTGGACCCCAAG	0.582																																						uc002odc.2		NA																	0					0						c.(286-288)TTG>TGG		WD repeat domain 62 isoform 2							150.0	139.0	142.0					19																	36550887		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36550887T>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.287T>G	19.37:g.36550887T>G	ENSP00000270301:p.Leu96Trp					WDR62_uc002odd.2_Missense_Mutation_p.L96W|WDR62_uc010eer.2_Missense_Mutation_p.L96W|WDR62_uc002odb.2_Missense_Mutation_p.L96W	p.L96W	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	378	+	Esophageal squamous(110;0.162)		96					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.287T>G	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589320	0.86851	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.59224	0.85;3.22;5.03;0.28	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.144328	0.46758	D	0.000262	T	0.52964	0.1767	N	0.03177	-0.4	0.49213	D	0.999765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.988	T	0.58747	-0.7582	10	0.25751	T	0.34	-14.5157	13.8704	0.63615	0.0:0.0:0.0:1.0	.	96;96;96	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	W	96;96;96;96;118	ENSP00000384792:L96W;ENSP00000373651:L96W;ENSP00000368137:L96W;ENSP00000270301:L96W	ENSP00000270301:L96W	L	+	2	0	WDR62	41242727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.814000	0.75236	2.224000	0.72417	0.459000	0.35465	TTG		0.582	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		3	156	0	0	0	0	3	156				
EID2	163126	broad.mit.edu	37	19	40030302	40030302	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:40030302G>A	ENST00000390658.2	-	1	568	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2											large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGGAGACGGAGATAGGGCAAC	0.602																																						uc002oma.2		NA																	0					0						c.(418-420)CTC>TTC		CREBBP/EP300 inhibitor 2							81.0	91.0	88.0					19																	40030302		1983	4160	6143	SO:0001583	missense	163126				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	g.chr19:40030302G>A	BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.418C>T	19.37:g.40030302G>A	ENSP00000375073:p.Leu140Phe						p.L140F	NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		1	537	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		140						Missense_Mutation	SNP	ENST00000390658.2	37	c.418C>T	CCDS12540.2	.	.	.	.	.	.	.	.	.	.	.	15.31	2.794611	0.50102	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.37235	1.21	3.88	1.69	0.24217	.	0.465747	0.15972	N	0.235712	T	0.28333	0.0700	L	0.51422	1.61	0.09310	N	1	B	0.22909	0.077	B	0.20767	0.031	T	0.27262	-1.0079	10	0.72032	D	0.01	.	4.7646	0.13127	0.1134:0.0:0.6744:0.2122	.	140	Q8N6I1	EID2_HUMAN	F	140;91	ENSP00000375073:L140F	ENSP00000375073:L140F	L	-	1	0	EID2	44722142	0.918000	0.31147	0.021000	0.16686	0.259000	0.26198	0.894000	0.28350	0.593000	0.29745	0.544000	0.68410	CTC		0.602	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1	NM_153232		24	102	0	0	0	0	24	102				
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						uc002omy.2		NA																	0					0						c.(820-822)GTA>ATA		zinc finger protein 780A isoform b							172.0	176.0	174.0					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.V274I|ZNF780A_uc010xvh.1_Missense_Mutation_p.V275I	p.V274I	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1045	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.820G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	219	0	0	0	0	5	219				
POLD1	5424	broad.mit.edu	37	19	50906777	50906777	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:50906777G>C	ENST00000440232.2	+	10	1218	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	POLD1_ENST00000595904.1_Missense_Mutation_p.D389H|POLD1_ENST00000599857.1_Missense_Mutation_p.D389H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	389					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCGTATCATGGACCCCGACGT	0.597								DNA polymerases (catalytic subunits)																														uc002psb.3		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1165-1167)GAC>CAC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							241.0	206.0	218.0					19																	50906777		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50906777G>C		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1165G>C	19.37:g.50906777G>C	ENSP00000406046:p.Asp389His					POLD1_uc002psc.3_Missense_Mutation_p.D389H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.D389H	p.D389H	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	10	1221	+		all_neural(266;0.0571)	389					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1165G>C	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.695997	0.68386	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.27402	1.67	3.84	3.84	0.44239	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71411	-0.4601	10	0.87932	D	0	-39.891	15.0305	0.71701	0.0:0.0:1.0:0.0	.	389;389	E7EVW0;P28340	.;DPOD1_HUMAN	H	389;390	ENSP00000406046:D389H	ENSP00000366129:D390H	D	+	1	0	POLD1	55598589	1.000000	0.71417	0.933000	0.37362	0.521000	0.34408	8.131000	0.89601	2.128000	0.65567	0.561000	0.74099	GAC		0.597	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			19	138	0	0	0	0	19	138				
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	C	rs377613190		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:55175317G>C	ENST00000391736.1	+	5	491	c.176G>C	c.(175-177)cGt>cCt	p.R59P	LILRB4_ENST00000270452.2_Missense_Mutation_p.R59P|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59P|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59P|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59P	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587																																						uc002qgp.2		NA																	0				ovary(3)	3						c.(175-177)CGT>CCT		leukocyte immunoglobulin-like receptor,							186.0	173.0	178.0					19																	55175317		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175317G>C	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.176G>C	19.37:g.55175317G>C	ENSP00000375616:p.Arg59Pro					LILRB4_uc002qgo.1_Missense_Mutation_p.R100P|LILRB4_uc002qgq.2_Missense_Mutation_p.R59P|LILRB4_uc010ers.1_5'UTR|LILRB4_uc002qgr.2_Missense_Mutation_p.R100P|LILRB4_uc010ert.2_Missense_Mutation_p.R100P|LILRB4_uc010eru.2_Missense_Mutation_p.R88P	p.R59P	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	3	538	+			59			Ig-like C2-type 1.|Extracellular (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.176G>C	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	7.770	0.707180	0.15239	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	2.43	-4.87	0.03123	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34135	0.0887	M	0.93462	3.42	0.09310	N	1	D;D;D;P;D;D	0.76494	0.998;0.999;0.998;0.937;0.984;0.997	D;D;P;P;P;P	0.72625	0.978;0.961;0.855;0.748;0.757;0.899	T	0.28522	-1.0041	9	0.40728	T	0.16	.	0.3278	0.00314	0.3454:0.1334:0.1862:0.335	.	59;59;59;59;59;100	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	P	100;59;59;59;59;59;59	ENSP00000375616:R59P;ENSP00000270452:R59P;ENSP00000408995:R59P;ENSP00000375614:R59P;ENSP00000375613:R59P;ENSP00000401962:R59P	ENSP00000270452:R59P	R	+	2	0	LILRB4	59867129	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-8.816000	0.00016	-3.203000	0.00216	-0.513000	0.04457	CGT		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			37	118	0	0	0	0	37	118				
DPYSL5	56896	broad.mit.edu	37	2	27121496	27121496	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:27121496G>C	ENST00000288699.6	+	2	287	c.129G>C	c.(127-129)atG>atC	p.M43I	DPYSL5_ENST00000401478.1_Missense_Mutation_p.M43I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	43					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAGCTCATGATCCCTGGCG	0.577																																						uc002rhu.3		NA																	0				ovary(2)	2						c.(127-129)ATG>ATC		dihydropyrimidinase-like 5							106.0	89.0	95.0					2																	27121496		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121496G>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.129G>C	2.37:g.27121496G>C	ENSP00000288699:p.Met43Ile					DPYSL5_uc002rhv.3_Missense_Mutation_p.M43I	p.M43I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			2	287	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.129G>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	9.381	1.073080	0.20147	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.84660	-0.98;-1.88;-1.88;-0.98;-0.97	4.85	4.85	0.62838	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	N	0.00436	-1.5	0.51233	D	0.999919	B	0.11235	0.004	B	0.11329	0.006	T	0.64193	-0.6465	10	0.06365	T	0.9	-32.7547	17.1086	0.86669	0.0:0.0:1.0:0.0	.	43	Q9BPU6	DPYL5_HUMAN	I	43	ENSP00000407174:M43I;ENSP00000288699:M43I;ENSP00000385549:M43I;ENSP00000399581:M43I;ENSP00000413075:M43I	ENSP00000288699:M43I	M	+	3	0	DPYSL5	26975000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.342000	0.72982	2.403000	0.81681	0.561000	0.74099	ATG		0.577	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		11	90	0	0	0	0	11	90				
TSPYL6	388951	broad.mit.edu	37	2	54483229	54483229	+	Silent	SNP	C	C	T	rs201295084	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:54483229C>T	ENST00000317802.7	-	1	180	c.60G>A	c.(58-60)ccG>ccA	p.P20P	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	20					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGCCCTGGTGCGGGTCTTCCA	0.622													C|||	7	0.00139776	0.0	0.0014	5008	,	,		18236	0.0		0.003	False		,,,				2504	0.0031					uc002rxr.2		NA																	0					0						c.(58-60)CCG>CCA		TSPY-like 6		C	,	1,3911		0,1,1955	91.0	100.0	97.0		60,	-1.4	0.0	2		97	13,8275		0,13,4131	no	coding-synonymous,intron	ACYP2,TSPYL6	NM_001003937.2,NM_138448.3	,	0,14,6086	TT,TC,CC		0.1569,0.0256,0.1148	,	20/411,	54483229	14,12186	1956	4144	6100	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54483229C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.60G>A	2.37:g.54483229C>T						ACYP2_uc002rxq.3_Intron	p.P20P	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN			1	181	-			20					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.60G>A	CCDS42682.1																																																																																				0.622	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		28	124	0	0	0	0	28	124				
REG3G	130120	broad.mit.edu	37	2	79254230	79254230	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:79254230C>T	ENST00000272324.5	+	4	450	c.266C>T	c.(265-267)tCc>tTc	p.S89F	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.S89F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	89	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTTCGTGTCCTCCCTGGTG	0.537																																						uc002snw.2		NA																	0					0						c.(265-267)TCC>TTC		regenerating islet-derived 3 gamma precursor							164.0	149.0	154.0					2																	79254230		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254230C>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.266C>T	2.37:g.79254230C>T	ENSP00000272324:p.Ser89Phe					REG3G_uc002snx.2_Missense_Mutation_p.S89F|REG3G_uc010ffu.2_Intron	p.S89F	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	351	+			89			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.266C>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155370	0.38021	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.20881	2.04;2.04	4.83	3.94	0.45596	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.401417	0.21380	N	0.075499	T	0.39784	0.1091	M	0.65975	2.015	0.22401	N	0.999135	D	0.76494	0.999	D	0.80764	0.994	T	0.08638	-1.0712	10	0.62326	D	0.03	.	8.3529	0.32314	0.0:0.8964:0.0:0.1036	.	89	Q6UW15	REG3G_HUMAN	F	89	ENSP00000377475:S89F;ENSP00000272324:S89F	ENSP00000272324:S89F	S	+	2	0	REG3G	79107738	0.103000	0.21917	0.170000	0.22879	0.327000	0.28475	1.847000	0.39299	2.662000	0.90505	0.655000	0.94253	TCC		0.537	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		21	106	0	0	0	0	21	106				
REV1	51455	broad.mit.edu	37	2	100055565	100055565	+	Silent	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:100055565C>T	ENST00000258428.3	-	6	939	c.711G>A	c.(709-711)aaG>aaA	p.K237K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K237K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	237					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCCTGTGTCTTTAAGGCAC	0.512								Direct reversal of damage																														uc002tad.2		NA																	0				ovary(2)	2						c.(709-711)AAG>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							65.0	58.0	60.0					2																	100055565		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055565C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.711G>A	2.37:g.100055565C>T						REV1_uc002tac.2_Silent_p.K237K|REV1_uc002tae.1_Silent_p.K216K	p.K237K	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			6	923	-			237					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.711G>A	CCDS2045.1																																																																																				0.512	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		4	34	0	0	0	0	4	34				
IL1R2	7850	broad.mit.edu	37	2	102636165	102636165	+	Silent	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:102636165C>T	ENST00000332549.3	+	5	808	c.579C>T	c.(577-579)ctC>ctT	p.L193L	IL1R2_ENST00000441002.1_Silent_p.L193L|IL1R2_ENST00000393414.2_Silent_p.L193L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	193	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CTCACTTACTCGTACACGATG	0.418																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2		NA																	0				ovary(1)|breast(1)	2						c.(577-579)CTC>CTT		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						110.0	95.0	100.0					2																	102636165		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102636165C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.579C>T	2.37:g.102636165C>T						IL1R2_uc002tbn.2_Silent_p.L193L|IL1R2_uc002tbo.1_Silent_p.L193L	p.L193L	NM_004633	NP_004624	P27930	IL1R2_HUMAN			5	808	+			193			Extracellular (Potential).|Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.579C>T	CCDS2054.1																																																																																				0.418	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		9	21	0	0	0	0	9	21				
LCT	3938	broad.mit.edu	37	2	136566782	136566782	+	Silent	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:136566782G>A	ENST00000264162.2	-	8	3145	c.3135C>T	c.(3133-3135)taC>taT	p.Y1045Y	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1045	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAAAGTCTGCGTAGCTGTCAA	0.493																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3133-3135)TAC>TAT		lactase-phlorizin hydrolase preproprotein							60.0	64.0	62.0					2																	136566782		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566782G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3135C>T	2.37:g.136566782G>A							p.Y1045Y	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3146	-			1045			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.3135C>T	CCDS2178.1																																																																																				0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		28	55	0	0	0	0	28	55				
MCM6	4175	broad.mit.edu	37	2	136610440	136610440	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:136610440T>C	ENST00000264156.2	-	12	1732	c.1672A>G	c.(1672-1674)Aga>Gga	p.R558G	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	558					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCCTCAATTCTTGAATGCAAA	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	0					0						c.(1672-1674)AGA>GGA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						103.0	94.0	97.0					2																	136610440		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136610440T>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1672A>G	2.37:g.136610440T>C	ENSP00000264156:p.Arg558Gly						p.R558G	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1748	-			558					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1672A>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231258	0.39399	.	.	ENSG00000076003	ENST00000264156	T	0.06528	3.29	5.77	4.55	0.56014	.	0.042189	0.85682	D	0.000000	T	0.05547	0.0146	N	0.17564	0.495	0.80722	D	1	B	0.32862	0.387	B	0.39771	0.309	T	0.53056	-0.8492	10	0.18710	T	0.47	-9.5491	11.562	0.50782	0.0:0.0:0.274:0.726	.	558	Q14566	MCM6_HUMAN	G	558	ENSP00000264156:R558G	ENSP00000264156:R558G	R	-	1	2	MCM6	136326910	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.051000	0.41307	2.206000	0.71126	0.455000	0.32223	AGA		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		22	38	0	0	0	0	22	38				
COL4A4	1286	broad.mit.edu	37	2	227966581	227966581	+	Splice_Site	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:227966581C>A	ENST00000396625.3	-	16	1182	c.975G>T	c.(973-975)aaG>aaT	p.K325N	COL4A4_ENST00000329662.7_Splice_Site_p.K325N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	325	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTACATTTACCTTTAATCCTG	0.318																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	GRCh37	CM014171	COL4A4	M		c.(973-975)AAG>AAT		alpha 4 type IV collagen precursor							41.0	36.0	37.0					2																	227966581		1827	4073	5900	SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227966581C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.975+1G>T	2.37:g.227966581C>A							p.K325N	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	16	1629	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	325			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.975G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847170	0.71603	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93547	-3.24;-3.24	5.63	5.63	0.86233	.	.	.	.	.	D	0.95909	0.8668	M	0.64404	1.975	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.95229	0.8341	8	.	.	.	.	16.606	0.84830	0.0:1.0:0.0:0.0	.	325	P53420	CO4A4_HUMAN	N	325	ENSP00000379866:K325N;ENSP00000328553:K325N	.	K	-	3	2	COL4A4	227674825	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.181000	0.58303	2.669000	0.90835	0.591000	0.81541	AAG		0.318	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Missense_Mutation	5	7	1	0	0.00116845	0.00131082	5	7				
TBC1D20	128637	broad.mit.edu	37	20	420957	420957	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr20:420957C>T	ENST00000354200.4	-	6	850	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	235	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AACCGCACGACGTGCCTGAAG	0.557																																						uc002wds.2		NA																	0				central_nervous_system(1)	1						c.(703-705)GTC>ATC		TBC1 domain family, member 20							109.0	87.0	95.0					20																	420957		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:420957C>T	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.703G>A	20.37:g.420957C>T	ENSP00000346139:p.Val235Ile					TBC1D20_uc002wdv.2_Missense_Mutation_p.V58I|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	p.V235I	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN			6	841	-		all_epithelial(17;0.228)|Breast(17;0.231)	235			Rab-GAP TBC.		A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.703G>A	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154627	0.57259	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.27557	1.66	5.65	4.71	0.59529	Rab-GAP/TBC domain (4);	0.178423	0.49305	N	0.000147	T	0.13798	0.0334	N	0.05414	-0.055	0.80722	D	1	B	0.29936	0.262	B	0.29785	0.107	T	0.08330	-1.0727	10	0.02654	T	1	-19.2029	11.879	0.52564	0.0:0.9203:0.0:0.0797	.	235	Q96BZ9	TBC20_HUMAN	I	235;260	ENSP00000346139:V235I	ENSP00000246077:V260I	V	-	1	0	TBC1D20	368957	1.000000	0.71417	0.765000	0.31456	0.996000	0.88848	4.641000	0.61375	1.527000	0.49086	0.655000	0.94253	GTC		0.557	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		8	48	0	0	0	0	8	48				
SIRPG	55423	broad.mit.edu	37	20	1629753	1629753	+	Silent	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr20:1629753C>T	ENST00000303415.3	-	2	439	c.375G>A	c.(373-375)ggG>ggA	p.G125G	SIRPG_ENST00000216927.4_Silent_p.G125G|SIRPG_ENST00000381583.2_Silent_p.G125G|SIRPG_ENST00000344103.4_Silent_p.G125G|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Silent_p.G92G	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	125	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCTCAGGGCTCCCTTTTCGAA	0.498																																						uc002wfm.1		NA																	0				ovary(1)	1						c.(373-375)GGG>GGA		signal-regulatory protein gamma isoform 1							244.0	209.0	221.0					20																	1629753		2203	4300	6503	SO:0001819	synonymous_variant	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629753C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.375G>A	20.37:g.1629753C>T						SIRPG_uc002wfn.1_Silent_p.G125G|SIRPG_uc002wfo.1_Silent_p.G125G	p.G125G	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	440	-			125			Extracellular (Potential).|Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	c.375G>A	CCDS13020.2																																																																																				0.498	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		55	83	0	0	0	0	55	83				
ZBP1	81030	broad.mit.edu	37	20	56191333	56191333	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr20:56191333C>T	ENST00000371173.3	-	2	403	c.226G>A	c.(226-228)Gag>Aag	p.E76K	ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000340462.4_Missense_Mutation_p.E76K|ZBP1_ENST00000541799.1_Missense_Mutation_p.E76K|ZBP1_ENST00000343535.4_Missense_Mutation_p.E76K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	76					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCAGGACCCTCGCCTTCAGGA	0.607																																						uc002xyo.2		NA																	0				ovary(2)	2						c.(226-228)GAG>AAG		Z-DNA binding protein 1 isoform a							109.0	99.0	102.0					20																	56191333		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56191333C>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.226G>A	20.37:g.56191333C>T	ENSP00000360215:p.Glu76Lys					ZBP1_uc010gjm.2_Missense_Mutation_p.E76K|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Missense_Mutation_p.E76K	p.E76K	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		2	507	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		76					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.226G>A	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	3.514	-0.099232	0.07010	.	.	ENSG00000124256	ENST00000371173;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.11930	3.08;3.13;3.05;2.73	3.63	-0.684	0.11331	.	2.362630	0.01869	N	0.037073	T	0.06280	0.0162	N	0.19112	0.55	0.09310	N	1	P;P;P	0.44521	0.815;0.837;0.837	B;B;B	0.30855	0.121;0.101;0.101	T	0.29274	-1.0017	10	0.13108	T	0.6	-0.4896	4.3508	0.11155	0.0:0.4162:0.3666:0.2172	.	76;76;76	F5GYT1;A2RRL9;Q9H171	.;.;ZBP1_HUMAN	K	76	ENSP00000360215:E76K;ENSP00000344954:E76K;ENSP00000340584:E76K;ENSP00000440552:E76K	ENSP00000344954:E76K	E	-	1	0	ZBP1	55624739	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.430000	0.06973	-0.079000	0.12707	-0.291000	0.09656	GAG		0.607	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		15	43	0	0	0	0	15	43				
MOV10L1	54456	broad.mit.edu	37	22	50546633	50546633	+	Missense_Mutation	SNP	G	G	A	rs147590689	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr22:50546633G>A	ENST00000262794.5	+	4	594	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E171K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E171K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E151K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	171					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E151K(1)|p.E171K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGGAGCAGCGAAGCCACCTC	0.602																																						uc003bjj.2		NA																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(511-513)GAA>AAA		MOV10-like 1 isoform 1		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	59.0	50.0	53.0		511,451,511	2.0	0.0	22	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	56,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	171/1166,151/1166,171/1212	50546633	3,13003	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50546633G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.511G>A	22.37:g.50546633G>A	ENSP00000262794:p.Glu171Lys					MOV10L1_uc003bjk.3_Missense_Mutation_p.E171K|MOV10L1_uc011arp.1_Missense_Mutation_p.E151K|MOV10L1_uc010han.2_Missense_Mutation_p.E151K	p.E171K	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	4	594	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	171					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.511G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228479	0.22542	0.0	3.49E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.28	2.01	0.26516	.	0.230390	0.44688	D	0.000432	T	0.20251	0.0487	L	0.35793	1.09	0.52099	D	0.999943	B;P;B;B	0.47545	0.314;0.897;0.209;0.209	B;B;B;B	0.42214	0.062;0.38;0.028;0.028	T	0.05484	-1.0882	10	0.19590	T	0.45	-35.816	6.7503	0.23483	0.1643:0.1467:0.689:0.0	.	151;151;171;171	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	171;171;171;151;151	ENSP00000438978:E171K;ENSP00000262794:E171K;ENSP00000379199:E171K;ENSP00000438542:E151K	ENSP00000262794:E171K	E	+	1	0	MOV10L1	48888760	0.998000	0.40836	0.027000	0.17364	0.057000	0.15508	3.163000	0.50763	0.226000	0.20979	0.644000	0.83932	GAA		0.602	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		7	19	0	0	0	0	7	19				
BSN	8927	broad.mit.edu	37	3	49700618	49700618	+	Missense_Mutation	SNP	G	G	T	rs373281408		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr3:49700618G>T	ENST00000296452.4	+	7	11141	c.11027G>T	c.(11026-11028)cGc>cTc	p.R3676L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3676					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACCTGGGTCGCCATGAGGCC	0.667																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(11026-11028)CGC>CTC		bassoon protein							52.0	54.0	53.0					3																	49700618		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49700618G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11027G>T	3.37:g.49700618G>T	ENSP00000296452:p.Arg3676Leu						p.R3676L	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	7	11141	+			3676					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.11027G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416525	0.42918	.	.	ENSG00000164061	ENST00000296452	T	0.22539	1.95	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.14587	-1.0467	10	0.37606	T	0.19	-13.056	18.5357	0.91009	0.0:0.0:1.0:0.0	.	3676	Q9UPA5	BSN_HUMAN	L	3676	ENSP00000296452:R3676L	ENSP00000296452:R3676L	R	+	2	0	BSN	49675622	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.743000	0.74848	2.451000	0.82905	0.591000	0.81541	CGC		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	26	1	0	0.00307968	0.00339783	8	26				
KLHL24	54800	broad.mit.edu	37	3	183368865	183368865	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr3:183368865G>A	ENST00000454652.2	+	4	1107	c.721G>A	c.(721-723)Gtt>Att	p.V241I	KLHL24_ENST00000242810.6_Missense_Mutation_p.V241I|KLHL24_ENST00000476808.1_Missense_Mutation_p.V241I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	241	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTATCGTGCCGTTGATCTGAG	0.418																																						uc003flv.2		NA																	0				ovary(1)	1						c.(721-723)GTT>ATT		DRE1 protein							140.0	133.0	136.0					3																	183368865		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368865G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.721G>A	3.37:g.183368865G>A	ENSP00000395012:p.Val241Ile					KLHL24_uc003flw.2_Missense_Mutation_p.V241I|KLHL24_uc003flx.2_Missense_Mutation_p.V241I	p.V241I	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	1016	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		241			BACK.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.721G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273662	0.80580	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.09	5.09	0.68999	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.42686	1.345	0.80722	D	1	D;P	0.55605	0.972;0.635	B;B	0.41723	0.365;0.274	T	0.63283	-0.6672	10	0.35671	T	0.21	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	241;241	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	I	241	ENSP00000242810:V241I;ENSP00000395012:V241I;ENSP00000419010:V241I	ENSP00000242810:V241I	V	+	1	0	KLHL24	184851559	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.540000	0.82074	2.361000	0.80049	0.460000	0.39030	GTT		0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		13	53	0	0	0	0	13	53				
GABRA2	2555	broad.mit.edu	37	4	46334667	46334667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:46334667C>T	ENST00000510861.1	-	4	393	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M|GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	74					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAACTGGTCACGTAGATGTTA	0.343																																						uc003gxc.3		NA																	0				ovary(2)|skin(2)	4						c.(220-222)GTG>ATG		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						87.0	91.0	89.0					4																	46334667		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46334667C>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.220G>A	4.37:g.46334667C>T	ENSP00000421828:p.Val74Met					GABRA2_uc010igc.2_Missense_Mutation_p.V74M|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Missense_Mutation_p.V74M	p.V74M	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			3	893	-			74			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.220G>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816786	0.70912	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.91561	3.22	0.80722	D	1	P;D	0.65815	0.927;0.995	B;P	0.52109	0.394;0.69	D	0.91349	0.5103	10	0.87932	D	0	.	15.8633	0.79043	0.0:1.0:0.0:0.0	.	74;74	G5E9Z6;P47869	.;GBRA2_HUMAN	M	74	ENSP00000421828:V74M;ENSP00000421300:V74M;ENSP00000371033:V74M;ENSP00000348897:V74M;ENSP00000427603:V74M;ENSP00000423840:V74M;ENSP00000424362:V74M;ENSP00000424093:V74M	ENSP00000348897:V74M	V	-	1	0	GABRA2	46029424	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.472000	0.66768	2.678000	0.91216	0.650000	0.86243	GTG		0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			14	34	0	0	0	0	14	34				
LRRC66	339977	broad.mit.edu	37	4	52862054	52862054	+	Silent	SNP	C	C	T	rs373547671		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:52862054C>T	ENST00000343457.3	-	4	1140	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	378						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGGCACACCGCCAGAGCCA	0.562																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1132-1134)GCG>GCA		leucine rich repeat containing 66							41.0	43.0	43.0					4																	52862054		1986	4170	6156	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52862054C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1134G>A	4.37:g.52862054C>T							p.A378A	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1147	-			378			Helical; (Potential).			Silent	SNP	ENST00000343457.3	37	c.1134G>A	CCDS43229.1																																																																																				0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		32	59	0	0	0	0	32	59				
PCDH10	57575	broad.mit.edu	37	4	134071659	134071659	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:134071659T>C	ENST00000264360.5	+	1	1190	c.364T>C	c.(364-366)Ttc>Ctc	p.F122L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		CCCCCCCTCTTTCCCGGAGCC	0.612																																						uc003iha.2		NA																	0				ovary(2)	2						c.(364-366)TTC>CTC		protocadherin 10 isoform 1 precursor							54.0	60.0	58.0					4																	134071659		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071659T>C	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.364T>C	4.37:g.134071659T>C	ENSP00000264360:p.Phe122Leu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.F122L	p.F122L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1190	+			122			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.364T>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302818	0.81136	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.28895	1.59	4.78	4.78	0.61160	Cadherin (2);Cadherin-like (1);	0.000000	0.47455	D	0.000232	T	0.65080	0.2657	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.97110	0.965;1.0	T	0.75668	-0.3238	10	0.87932	D	0	.	14.1037	0.65075	0.0:0.0:0.0:1.0	.	122;122	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	122	ENSP00000264360:F122L	ENSP00000264360:F122L	F	+	1	0	PCDH10	134291109	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.868000	0.87116	1.995000	0.58328	0.454000	0.30748	TTC		0.612	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		16	86	0	0	0	0	16	86				
NPY5R	4889	broad.mit.edu	37	4	164271702	164271702	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:164271702T>C	ENST00000515560.1	+	4	1799	c.277T>C	c.(277-279)Ttt>Ctt	p.F93L	NPY5R_ENST00000506953.1_Missense_Mutation_p.F93L|NPY5R_ENST00000338566.3_Missense_Mutation_p.F93L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	93					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTTGTGCTGTTTTGCTCACC	0.403																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	0				lung(6)|skin(1)	7						c.(277-279)TTT>CTT		neuropeptide Y receptor Y5							311.0	304.0	306.0					4																	164271702		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271702T>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.277T>C	4.37:g.164271702T>C	ENSP00000423917:p.Phe93Leu						p.F93L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	459	+	all_hematologic(180;0.166)	Prostate(90;0.109)	93			Helical; Name=2; (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.277T>C	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024695	0.54683	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.69175	-0.38;-0.38;-0.38	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.56262	0.1973	L	0.37697	1.125	0.49299	D	0.999779	B	0.27997	0.197	B	0.34824	0.19	T	0.51803	-0.8659	10	0.02654	T	1	.	15.2084	0.73198	0.0:0.0:0.0:1.0	.	93	Q15761	NPY5R_HUMAN	L	93	ENSP00000339377:F93L;ENSP00000423917:F93L;ENSP00000423474:F93L	ENSP00000339377:F93L	F	+	1	0	NPY5R	164491152	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.856000	0.48341	2.048000	0.60808	0.482000	0.46254	TTT		0.403	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		66	148	0	0	0	0	66	148				
MTRR	4552	broad.mit.edu	37	5	7873624	7873624	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:7873624C>T	ENST00000264668.2	+	3	379	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.R90W	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	117	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TGCTCACCTGCGGTATGGGTT	0.448																																						uc003jed.2		NA																	0				ovary(1)	1						c.(349-351)CGG>TGG		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						137.0	139.0	138.0					5																	7873624		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7873624C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.349C>T	5.37:g.7873624C>T	ENSP00000264668:p.Arg117Trp					MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Missense_Mutation_p.R90W|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA	p.R117W	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			3	379	+			117			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.349C>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401171	0.42613	.	.	ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.67	3.88	0.44766	Flavodoxin/nitric oxide synthase (2);	0.519926	0.21695	N	0.070517	T	0.72479	0.3465	M	0.81682	2.555	0.80722	D	1	B	0.27351	0.176	B	0.25506	0.061	T	0.70015	-0.4988	10	0.62326	D	0.03	-14.8435	7.7194	0.28723	0.1312:0.7321:0.0:0.1367	.	117	Q9UBK8	MTRR_HUMAN	W	117;90;90;90	ENSP00000264668:R117W;ENSP00000402510:R90W;ENSP00000424599:R90W;ENSP00000421318:R90W	ENSP00000264668:R117W	R	+	1	2	MTRR	7926624	0.951000	0.32395	0.996000	0.52242	0.986000	0.74619	2.010000	0.40913	0.739000	0.32628	0.655000	0.94253	CGG		0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			17	69	0	0	0	0	17	69				
EGFLAM	133584	broad.mit.edu	37	5	38370532	38370532	+	Missense_Mutation	SNP	G	G	A	rs199795131	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:38370532G>A	ENST00000354891.3	+	6	1026	c.680G>A	c.(679-681)cGc>cAc	p.R227H	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R227H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	227	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R227L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCAGCCCCCGCAGCTGGCCC	0.577													G|||	56	0.0111821	0.0008	0.0	5008	,	,		16988	0.0		0.0	False		,,,				2504	0.0562				Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(3)|ovary(1)	7						c.(679-681)CGC>CAC		EGF-like, fibronectin type III and laminin G							44.0	44.0	44.0					5																	38370532		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370532G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.680G>A	5.37:g.38370532G>A	ENSP00000346964:p.Arg227His					EGFLAM_uc003jlb.1_Missense_Mutation_p.R227H	p.R227H	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			6	1004	+	all_lung(31;0.000385)		227			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.680G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865632	0.71949	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.54279	0.58;0.58	5.82	1.85	0.25348	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.428011	0.27340	N	0.019805	T	0.54902	0.1887	L	0.46157	1.445	0.80722	D	1	D;D	0.60575	0.988;0.985	P;P	0.55087	0.768;0.657	T	0.51236	-0.8731	10	0.52906	T	0.07	.	9.9016	0.41351	0.0:0.4351:0.2538:0.3111	.	227;227	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	H	227	ENSP00000346964:R227H;ENSP00000313084:R227H	ENSP00000313084:R227H	R	+	2	0	EGFLAM	38406289	0.991000	0.36638	0.863000	0.33907	0.972000	0.66771	1.186000	0.32078	0.044000	0.15775	-0.314000	0.08810	CGC		0.577	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		5	21	0	0	0	0	5	21				
RNF14	9604	broad.mit.edu	37	5	141359811	141359811	+	Missense_Mutation	SNP	C	C	G	rs369401378		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:141359811C>G	ENST00000394520.2	+	6	1267	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	RNF14_ENST00000394519.1_Missense_Mutation_p.Q320E|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000356143.1_Missense_Mutation_p.Q320E|RNF14_ENST00000347642.3_Missense_Mutation_p.Q320E|RNF14_ENST00000394514.2_Missense_Mutation_p.Q194E|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Missense_Mutation_p.Q144E	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	320					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCCTGTGATGCAGGAACCTGG	0.567																																						uc003lly.2		NA																	0					0						c.(958-960)CAG>GAG		ring finger protein 14 isoform 1							105.0	92.0	96.0					5																	141359811		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141359811C>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.958C>G	5.37:g.141359811C>G	ENSP00000378028:p.Gln320Glu					RNF14_uc003llz.2_Missense_Mutation_p.Q320E|RNF14_uc003lma.2_Missense_Mutation_p.Q320E|RNF14_uc003lmb.2_Missense_Mutation_p.Q194E|RNF14_uc003lmc.2_Missense_Mutation_p.Q320E|RNF14_uc011dbg.1_Missense_Mutation_p.Q144E|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.Q320E	p.Q320E	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	5	997	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	320			IBR-type.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.958C>G	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095613	0.56075	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000394514;ENST00000394515;ENST00000394519	T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	4.99	4.99	0.66335	Zinc finger, C6HC-type (2);	0.122244	0.56097	D	0.000028	T	0.39306	0.1073	N	0.04203	-0.255	0.47214	D	0.999359	B;B	0.13594	0.008;0.007	B;B	0.21708	0.009;0.036	T	0.40664	-0.9551	10	0.02654	T	1	.	18.6532	0.91439	0.0:1.0:0.0:0.0	.	144;320	B7Z229;Q9UBS8	.;RNF14_HUMAN	E	320;320;320;194;144;320	ENSP00000348462:Q320E;ENSP00000378028:Q320E;ENSP00000324956:Q320E;ENSP00000378022:Q194E;ENSP00000378023:Q144E;ENSP00000378027:Q320E	ENSP00000324956:Q320E	Q	+	1	0	RNF14	141339995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.871000	0.39539	2.480000	0.83734	0.650000	0.86243	CAG		0.567	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		59	31	0	0	0	0	59	31				
NSD1	64324	broad.mit.edu	37	5	176709563	176709563	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:176709563A>G	ENST00000439151.2	+	19	6035	c.5990A>G	c.(5989-5991)tAt>tGt	p.Y1997C	NSD1_ENST00000361032.4_Missense_Mutation_p.Y1894C|NSD1_ENST00000347982.4_Missense_Mutation_p.Y1728C|NSD1_ENST00000354179.4_Missense_Mutation_p.Y1728C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1997	S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		Y -> C (in SOTOS1). {ECO:0000269|PubMed:12807965}.		gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTAATTTCTATATGCTCACC	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3	GRCh37	CM052319|CM052320	NSD1	M		c.(5989-5991)TAT>TGT		nuclear receptor binding SET domain protein 1							168.0	168.0	168.0					5																	176709563		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709563A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5990A>G	5.37:g.176709563A>G	ENSP00000395929:p.Tyr1997Cys	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.Y1728C|NSD1_uc011dfx.1_Missense_Mutation_p.Y1645C	p.Y1997C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	6128	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1997		Y -> C (in WES).	S-adenosyl-L-methionine binding.|SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5990A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304189	0.81136	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.5	5.5	0.81552	SET domain (3);	0.294019	0.24750	N	0.035904	D	0.98435	0.9479	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99780	1.1027	10	0.87932	D	0	.	15.5823	0.76455	1.0:0.0:0.0:0.0	.	1728;1997	Q96L73-2;Q96L73	.;NSD1_HUMAN	C	1728;1997;1728;1894	ENSP00000346111:Y1728C;ENSP00000395929:Y1997C;ENSP00000343209:Y1728C;ENSP00000354310:Y1894C	ENSP00000343209:Y1728C	Y	+	2	0	NSD1	176642169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.209000	0.71365	0.533000	0.62120	TAT		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		50	21	0	0	0	0	50	21				
HIST1H4E	8367	broad.mit.edu	37	6	26204885	26204885	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:26204885G>A	ENST00000360441.4	+	1	28	c.13G>A	c.(13-15)Ggc>Agc	p.G5S		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	5					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G5C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTCTGGTCGCGGCAAAGGCGG	0.517																																						uc003ngy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)GGC>AGC		histone cluster 1, H4e							71.0	75.0	74.0					6																	26204885		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26204885G>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.13G>A	6.37:g.26204885G>A	ENSP00000353624:p.Gly5Ser						p.G5S	NM_003545	NP_003536	P62805	H4_HUMAN			1	13	+		all_hematologic(11;0.196)	5					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.13G>A	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.220046	0.39201	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	U	0.000000	T	0.61035	0.2315	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	T	0.65763	-0.6089	6	0.52906	T	0.07	.	12.1184	0.53878	0.0:0.0:1.0:0.0	.	.	.	.	S	5	.	ENSP00000353624:G5S	G	+	1	0	HIST1H4E	26312864	1.000000	0.71417	0.560000	0.28344	0.028000	0.11728	9.210000	0.95106	1.448000	0.47680	0.563000	0.77884	GGC		0.517	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		30	63	0	0	0	0	30	63				
ABCF1	23	broad.mit.edu	37	6	30546133	30546133	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:30546133C>A	ENST00000326195.8	+	5	464	c.352C>A	c.(352-354)Cca>Aca	p.P118T	ABCF1_ENST00000376545.3_Missense_Mutation_p.P118T|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	118					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGTACCCGCCCCAAAACCCCG	0.498																																						uc003nql.2		NA																	0				ovary(2)	2						c.(352-354)CCA>ACA		ATP-binding cassette, sub-family F, member 1							78.0	74.0	76.0					6																	30546133		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30546133C>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.352C>A	6.37:g.30546133C>A	ENSP00000313603:p.Pro118Thr					ABCF1_uc003nqk.2_Missense_Mutation_p.P119T|ABCF1_uc003nqm.2_Missense_Mutation_p.P118T|ABCF1_uc010jsb.2_Intron	p.P118T	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			5	447	+			118					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.352C>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916566	0.52546	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.53640	1.57;0.61;0.88;0.91	5.29	4.4	0.53042	.	0.456245	0.25106	N	0.033081	T	0.23532	0.0569	L	0.36672	1.1	0.80722	D	1	B;B;B	0.31413	0.04;0.077;0.322	B;B;B	0.31614	0.062;0.062;0.133	T	0.10451	-1.0629	10	0.48119	T	0.1	-5.3438	12.1225	0.53900	0.0:0.8269:0.173:0.0	.	118;118;118	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	T	118;118;119;119;21	ENSP00000313603:P118T;ENSP00000365728:P118T;ENSP00000405512:P119T;ENSP00000440893:P21T	ENSP00000313603:P118T	P	+	1	0	ABCF1	30654112	0.042000	0.20092	0.781000	0.31783	0.423000	0.31445	1.802000	0.38853	1.342000	0.45619	0.558000	0.71614	CCA		0.498	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			4	78	1	0	0.00909568	0.00979253	4	78				
AK9	221264	broad.mit.edu	37	6	109962806	109962806	+	Missense_Mutation	SNP	C	C	T	rs148448147	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:109962806C>T	ENST00000424296.2	-	10	924	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	AK9_ENST00000285397.5_Missense_Mutation_p.R283Q|AK9_ENST00000368948.2_Missense_Mutation_p.R283Q|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	283	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.R283Q(2)									ATATTTAAGTCGATCCATAAC	0.348													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19792	0.0		0.0	False		,,,				2504	0.0					uc003ptn.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(847-849)CGA>CAA		adenylate kinase domain containing 1 isoform 1		C	GLN/ARG,GLN/ARG	17,4389	24.3+/-50.5	0,17,2186	105.0	96.0	99.0		848,848	3.7	0.6	6	dbSNP_134	99	0,8598		0,0,4299	yes	missense,missense	AKD1	NM_001145128.2,NM_145025.4	43,43	0,17,6485	TT,TC,CC		0.0,0.3858,0.1307	probably-damaging,probably-damaging	283/1912,283/422	109962806	17,12987	2203	4299	6502	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109962806C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.848G>A	6.37:g.109962806C>T	ENSP00000410186:p.Arg283Gln					AKD1_uc003ptr.3_Missense_Mutation_p.R283Q	p.R283Q	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			10	925	-			283					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.848G>A	CCDS55048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.29	1.593716	0.28445	0.003858	0.0	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084	T;T;T;T	0.69806	-0.43;-0.34;-0.28;0.55	5.44	3.65	0.41850	.	0.183932	0.44688	N	0.000436	T	0.37571	0.1008	L	0.40543	1.245	0.26402	N	0.97641	D;P	0.57899	0.981;0.854	B;B	0.41510	0.359;0.187	T	0.14282	-1.0478	9	.	.	.	-6.5868	9.6202	0.39716	0.0:0.8365:0.0:0.1635	.	283;283	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	Q	283;283;283;206	ENSP00000410186:R283Q;ENSP00000357944:R283Q;ENSP00000285397:R283Q;ENSP00000407510:R206Q	.	R	-	2	0	AKD1	110069499	0.519000	0.26242	0.631000	0.29282	0.272000	0.26649	1.281000	0.33214	1.303000	0.44873	0.650000	0.86243	CGA		0.348	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		18	30	0	0	0	0	18	30				
TIAM2	26230	broad.mit.edu	37	6	155485661	155485661	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:155485661C>A	ENST00000461783.3	+	10	3414	c.2141C>A	c.(2140-2142)gCa>gAa	p.A714E	TIAM2_ENST00000318981.5_Missense_Mutation_p.A714E|TIAM2_ENST00000456144.1_Missense_Mutation_p.A714E|TIAM2_ENST00000529824.2_Missense_Mutation_p.A714E|TIAM2_ENST00000456877.2_Missense_Mutation_p.A26E|TIAM2_ENST00000528391.2_Missense_Mutation_p.A26E|TIAM2_ENST00000360366.4_Missense_Mutation_p.A714E|TIAM2_ENST00000367174.2_Missense_Mutation_p.A66E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	714					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTCTCCTTGCAGCCGCCAGC	0.552																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(2140-2142)GCA>GAA		T-cell lymphoma invasion and metastasis 2							82.0	93.0	89.0					6																	155485661		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155485661C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2141C>A	6.37:g.155485661C>A	ENSP00000437188:p.Ala714Glu					TIAM2_uc003qqe.2_Missense_Mutation_p.A714E|TIAM2_uc010kjj.2_Missense_Mutation_p.A247E|TIAM2_uc003qqf.2_Missense_Mutation_p.A66E|TIAM2_uc011efl.1_Missense_Mutation_p.A26E|TIAM2_uc003qqg.2_Missense_Mutation_p.A26E	p.A714E	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	10	3414	+		Ovarian(120;0.196)	714					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2141C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792984	0.90453	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.09723	3.35;3.26;3.32;3.35;3.16;3.34;3.32;3.07;2.95	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.999;0.999;0.999	T	0.02075	-1.1218	10	0.87932	D	0	.	18.9503	0.92638	0.0:1.0:0.0:0.0	.	26;714;714;714	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	E	714;960;714;714;714;66;714;714;26;26	ENSP00000437188:A714E;ENSP00000434901:A714E;ENSP00000407746:A714E;ENSP00000327315:A714E;ENSP00000356142:A66E;ENSP00000353528:A714E;ENSP00000433348:A714E;ENSP00000407183:A26E;ENSP00000435335:A26E	ENSP00000327315:A714E	A	+	2	0	TIAM2	155527353	1.000000	0.71417	0.580000	0.28601	0.658000	0.38924	7.818000	0.86416	2.453000	0.82957	0.650000	0.86243	GCA		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		80	148	1	0	5.82e-33	7.13e-33	80	148				
INTS1	26173	broad.mit.edu	37	7	1523641	1523641	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:1523641A>G	ENST00000404767.3	-	25	3512	c.3427T>C	c.(3427-3429)Tgg>Cgg	p.W1143R	INTS1_ENST00000389470.4_Missense_Mutation_p.W1305R	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1143					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCCTCACCCAGCTGTAGACC	0.687																																						uc003skn.2		NA																	0					0						c.(3427-3429)TGG>CGG		integrator complex subunit 1							85.0	97.0	93.0					7																	1523641		2168	4250	6418	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1523641A>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3427T>C	7.37:g.1523641A>G	ENSP00000385722:p.Trp1143Arg					INTS1_uc003skp.1_Missense_Mutation_p.W490R	p.W1143R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	25	3528	-		Ovarian(82;0.0253)	1143					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3427T>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	a	18.88	3.716920	0.68844	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52057	0.68;0.71	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.973	T	0.70328	-0.4902	10	0.87932	D	0	.	14.6023	0.68450	1.0:0.0:0.0:0.0	.	1311;1143	A4D213;Q8N201	.;INT1_HUMAN	R	1143;1305	ENSP00000385722:W1143R;ENSP00000374121:W1305R	ENSP00000374121:W1305R	W	-	1	0	INTS1	1490167	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.872000	0.92352	1.862000	0.54008	0.459000	0.35465	TGG		0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			14	55	0	0	0	0	14	55				
INTS1	26173	broad.mit.edu	37	7	1523644	1523644	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:1523644T>C	ENST00000404767.3	-	25	3509	c.3424A>G	c.(3424-3426)Agc>Ggc	p.S1142G	INTS1_ENST00000389470.4_Missense_Mutation_p.S1304G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1142					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCACCCAGCTGTAGACCTCC	0.687																																						uc003skn.2		NA																	0					0						c.(3424-3426)AGC>GGC		integrator complex subunit 1							85.0	97.0	93.0					7																	1523644		2171	4253	6424	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1523644T>C	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3424A>G	7.37:g.1523644T>C	ENSP00000385722:p.Ser1142Gly					INTS1_uc003skp.1_Missense_Mutation_p.S489G	p.S1142G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	25	3525	-		Ovarian(82;0.0253)	1142					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3424A>G	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	t	16.05	3.011643	0.54468	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.8	4.94	4.94	0.65067	.	0.039447	0.85682	D	0.000000	T	0.47078	0.1426	L	0.58101	1.795	0.58432	D	0.999999	P;B	0.37330	0.59;0.136	B;B	0.37387	0.248;0.129	T	0.52253	-0.8600	10	0.56958	D	0.05	.	14.6024	0.68450	0.0:0.0:0.0:1.0	.	1310;1142	A4D213;Q8N201	.;INT1_HUMAN	G	1142;1304	ENSP00000385722:S1142G;ENSP00000374121:S1304G	ENSP00000374121:S1304G	S	-	1	0	INTS1	1490170	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.637000	0.83313	1.862000	0.54008	0.459000	0.35465	AGC		0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			14	55	0	0	0	0	14	55				
AHR	196	broad.mit.edu	37	7	17382646	17382646	+	Missense_Mutation	SNP	A	A	T	rs146912085		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:17382646A>T	ENST00000242057.4	+	11	3148	c.2505A>T	c.(2503-2505)gaA>gaT	p.E835D		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	835				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}.	apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATCCGTCAGAAGCCAGACCTT	0.373																																						uc011jxz.1		NA																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(2503-2505)GAA>GAT		aryl hydrocarbon receptor precursor		A	ASP/GLU	0,4406		0,0,2203	218.0	204.0	208.0		2505	0.1	0.9	7	dbSNP_134	208	1,8599	1.2+/-3.3	0,1,4299	no	missense	AHR	NM_001621.4	45	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	835/849	17382646	1,13005	2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17382646A>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2505A>T	7.37:g.17382646A>T	ENSP00000242057:p.Glu835Asp					AHR_uc003stt.3_RNA	p.E835D	NM_001621	NP_001612	P35869	AHR_HUMAN			11	3118	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		835	LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).				A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.2505A>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823777	0.50739	0.0	1.16E-4	ENSG00000106546	ENST00000242057	T	0.55760	0.5	5.37	0.135	0.14775	.	0.114890	0.56097	N	0.000025	T	0.39963	0.1098	L	0.55481	1.735	0.28357	N	0.920638	B	0.28584	0.216	B	0.31442	0.13	T	0.19976	-1.0289	10	0.30854	T	0.27	.	3.7626	0.08610	0.4556:0.0:0.1951:0.3493	.	835	P35869	AHR_HUMAN	D	835	ENSP00000242057:E835D	ENSP00000242057:E835D	E	+	3	2	AHR	17349171	0.994000	0.37717	0.906000	0.35671	0.989000	0.77384	0.860000	0.27871	0.061000	0.16311	0.482000	0.46254	GAA		0.373	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		77	87	0	0	0	0	77	87				
HDAC9	9734	broad.mit.edu	37	7	18975526	18975526	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:18975526T>G	ENST00000432645.2	+	22	2889	c.2889T>G	c.(2887-2889)gaT>gaG	p.D963E	HDAC9_ENST00000406451.4_Missense_Mutation_p.D963E|HDAC9_ENST00000441542.2_Missense_Mutation_p.D966E|HDAC9_ENST00000401921.1_Missense_Mutation_p.D922E	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	963	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCATCTGTGATGCATCAGAAG	0.438																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2887-2889)GAT>GAG		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						189.0	181.0	184.0					7																	18975526		1913	4141	6054	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975526T>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2889T>G	7.37:g.18975526T>G	ENSP00000410337:p.Asp963Glu					HDAC9_uc003sue.2_Missense_Mutation_p.D963E|HDAC9_uc003sui.2_Missense_Mutation_p.D966E|HDAC9_uc003suj.2_Missense_Mutation_p.D922E|HDAC9_uc003suk.2_Missense_Mutation_p.D211E	p.D963E	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			22	2930	+	all_lung(11;0.187)		963			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2889T>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581721	0.65992	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.81	3.38	0.38709	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000005	T	0.56949	0.2020	L	0.29908	0.895	0.80722	D	1	P;P;P;D;P	0.53619	0.923;0.952;0.952;0.961;0.952	P;B;B;P;B	0.47044	0.535;0.371;0.371;0.505;0.371	T	0.55386	-0.8149	10	0.87932	D	0	-23.0711	7.8589	0.29499	0.0:0.1873:0.1072:0.7055	.	211;922;966;963;963	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	E	963;922;963;966;875	ENSP00000384657:D963E;ENSP00000383912:D922E;ENSP00000410337:D963E;ENSP00000408617:D966E	ENSP00000339165:D875E	D	+	3	2	HDAC9	18942051	0.991000	0.36638	1.000000	0.80357	0.972000	0.66771	0.208000	0.17415	0.100000	0.17581	-1.450000	0.01041	GAT		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			36	96	0	0	0	0	36	96				
KLHL7	55975	broad.mit.edu	37	7	23213806	23213806	+	Silent	SNP	C	C	T	rs142565112		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:23213806C>T	ENST00000339077.5	+	11	1893	c.1650C>T	c.(1648-1650)acC>acT	p.T550T	KLHL7_ENST00000409689.1_Silent_p.T502T|KLHL7_ENST00000322231.7_Silent_p.T528T|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Silent_p.T474T|KLHL7_ENST00000542558.1_Silent_p.T325T|KLHL7_ENST00000545443.1_Silent_p.T528T	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	550					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATATAATACCGAAACAGACA	0.423																																						uc003svs.3		NA																	0					0						c.(1648-1650)ACC>ACT		kelch-like 7 isoform 1		C	,	0,4406		0,0,2203	243.0	223.0	230.0		1650,1506	0.5	1.0	7	dbSNP_134	230	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	KLHL7	NM_001031710.2,NM_018846.4	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	550/587,502/539	23213806	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23213806C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1650C>T	7.37:g.23213806C>T						KLHL7_uc003svr.3_Silent_p.T528T|KLHL7_uc011jys.1_Silent_p.T474T|KLHL7_uc011jyt.1_Silent_p.T325T|KLHL7_uc003svt.2_Silent_p.T502T|KLHL7_uc011jyv.1_Silent_p.T280T	p.T550T	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			11	1943	+			550			Kelch 6.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	c.1650C>T	CCDS34609.1																																																																																				0.423	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		27	46	0	0	0	0	27	46				
SRRT	51593	broad.mit.edu	37	7	100484575	100484575	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:100484575G>A	ENST00000347433.4	+	14	1965	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	SRRT_ENST00000457580.2_Missense_Mutation_p.E603K|SRRT_ENST00000388793.4_Missense_Mutation_p.E602K|SRRT_ENST00000432932.1_Missense_Mutation_p.E602K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	603					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGAGCGGGATGAGAAGTTGAT	0.647																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(1807-1809)GAG>AAG		arsenate resistance protein 2 isoform a							72.0	83.0	79.0					7																	100484575		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484575G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1807G>A	7.37:g.100484575G>A	ENSP00000314491:p.Glu603Lys					SRRT_uc010lhl.1_Missense_Mutation_p.E602K|SRRT_uc003uxa.2_Missense_Mutation_p.E602K|SRRT_uc003uwz.2_Missense_Mutation_p.E603K	p.E603K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			15	2075	+			603					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1807G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072152	0.76415	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.36	5.36	0.76844	.	0.050768	0.85682	D	0.000000	T	0.45637	0.1352	L	0.39245	1.2	0.80722	D	1	P;P;P;B	0.45474	0.557;0.859;0.75;0.043	B;P;B;B	0.44394	0.107;0.448;0.24;0.016	T	0.37731	-0.9693	9	0.06236	T	0.91	.	16.5555	0.84484	0.0:0.0:1.0:0.0	.	602;602;603;603	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	K	603;602;602;603;233	.	ENSP00000314491:E603K	E	+	1	0	SRRT	100322511	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.010000	0.93611	2.493000	0.84123	0.561000	0.74099	GAG		0.647	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		30	196	0	0	0	0	30	196				
CUX1	1523	broad.mit.edu	37	7	101844779	101844779	+	Silent	SNP	C	C	T	rs150235372		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:101844779C>T	ENST00000292535.7	+	18	2240	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.S576S|CUX1_ENST00000546411.2_Silent_p.S632S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.S745S|CUX1_ENST00000549414.2_Silent_p.S712S|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.S678S|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	734					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S734S(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACCACTGTCCCAGAGTGACA	0.632																																						uc003uyx.3		NA																	1	Substitution - coding silent(1)	p.S734S(1)	skin(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2200-2202)TCC>TCT		cut-like homeobox 1 isoform a							130.0	129.0	130.0					7																	101844779		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101844779C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2202C>T	7.37:g.101844779C>T						CUX1_uc003uys.3_Silent_p.S745S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.S734S	NM_181552	NP_853530	P39880	CUX1_HUMAN			18	2240	+			734					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2202C>T	CCDS5721.1																																																																																				0.632	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		22	318	0	0	0	0	22	318				
TRPS1	7227	broad.mit.edu	37	8	116430580	116430580	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr8:116430580C>G	ENST00000220888.5	-	5	2921	c.2762G>C	c.(2761-2763)gGc>gCc	p.G921A	TRPS1_ENST00000519076.1_Missense_Mutation_p.G675A|TRPS1_ENST00000520276.1_Missense_Mutation_p.G925A|TRPS1_ENST00000395715.3_Missense_Mutation_p.G934A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	921					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGTAGAGGCCACACGCGTT	0.483									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	GRCh37	CM083791	TRPS1	M		c.(2761-2763)GGC>GCC		zinc finger transcription factor TRPS1							132.0	133.0	133.0					8																	116430580		2002	4180	6182	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116430580C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2762G>C	8.37:g.116430580C>G	ENSP00000220888:p.Gly921Ala					TRPS1_uc011lhy.1_Missense_Mutation_p.G925A|TRPS1_uc003yny.2_Missense_Mutation_p.G934A|TRPS1_uc010mcy.2_Missense_Mutation_p.G921A	p.G921A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	3221	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		921					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2762G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.81|19.81	3.896555|3.896555	0.72639|0.72639	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.99823|.	-6.95;-6.95;-6.95;-6.95|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87430|0.87430	0.6175|0.6175	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.89791|0.89791	0.3968|0.3968	10|5	0.87932|.	D|.	0|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	925;921;934|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	A|C	934;921;675;925|45	ENSP00000379065:G934A;ENSP00000220888:G921A;ENSP00000428910:G675A;ENSP00000428680:G925A|.	ENSP00000220888:G921A|.	G|W	-|-	2|3	0|0	TRPS1|TRPS1	116499756|116499756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.483	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		137	31	0	0	0	0	137	31				
MROH5	389690	broad.mit.edu	37	8	142445304	142445304	+	RNA	SNP	G	G	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr8:142445304G>A	ENST00000606664.1	+	0	660				MROH5_ENST00000430863.1_RNA																							TGCAGTAGCCGCCAGCGGAGC	0.667																																						uc003ywi.2		NA																	0					0						c.(3601-3603)CGG>TGG		hypothetical protein LOC389690							31.0	41.0	38.0					8																	142445304		2143	4244	6387			389690						binding	g.chr8:142445304G>A																													8.37:g.142445304G>A						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.R1201W	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		29	3682	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		1201						Missense_Mutation	SNP	ENST00000606664.1	37	c.3601C>T																																																																																					0.667	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			56	18	0	0	0	0	56	18				
ADAMTSL1	92949	broad.mit.edu	37	9	18777750	18777750	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:18777750C>A	ENST00000380548.4	+	19	3862	c.3523C>A	c.(3523-3525)Cag>Aag	p.Q1175K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1175	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCGGCCCAGCAGCTCTCAGC	0.692																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(3523-3525)CAG>AAG		ADAMTS-like 1 isoform 4 precursor							23.0	28.0	27.0					9																	18777750		2146	4243	6389	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777750C>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3523C>A	9.37:g.18777750C>A	ENSP00000369921:p.Gln1175Lys						p.Q1175K	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3650	+			1175			Ig-like C2-type 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3523C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830926	0.32329	.	.	ENSG00000178031	ENST00000380548	T	0.62364	0.03	6.03	6.03	0.97812	Immunoglobulin-like (1);	0.100502	0.43416	D	0.000561	T	0.54647	0.1871	L	0.38838	1.175	0.80722	D	1	D	0.53151	0.958	B	0.44224	0.444	T	0.52646	-0.8548	10	0.05833	T	0.94	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1175	Q8N6G6	ATL1_HUMAN	K	1175	ENSP00000369921:Q1175K	ENSP00000369921:Q1175K	Q	+	1	0	ADAMTSL1	18767750	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.048000	0.57390	2.868000	0.98415	0.557000	0.71058	CAG		0.692	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			13	15	1	0	0.00136819	0.00152212	13	15				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|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 cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	6	0	0	0	0	8	6				
GDA	9615	broad.mit.edu	37	9	74834409	74834409	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:74834409T>A	ENST00000358399.3	+	6	686	c.593T>A	c.(592-594)aTg>aAg	p.M198K	GDA_ENST00000376986.1_Missense_Mutation_p.M156K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.M198K|GDA_ENST00000545168.1_Missense_Mutation_p.M124K|GDA_ENST00000376989.3_Missense_Mutation_p.M173K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	198					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GTGTCAGAAATGCTCCAAAAG	0.323																																						uc004aiq.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(592-594)ATG>AAG		guanine deaminase							114.0	107.0	109.0					9																	74834409		2202	4300	6502	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74834409T>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.593T>A	9.37:g.74834409T>A	ENSP00000351170:p.Met198Lys					GDA_uc011lse.1_Missense_Mutation_p.M124K|GDA_uc011lsf.1_Missense_Mutation_p.M124K|GDA_uc004air.2_Missense_Mutation_p.M198K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.M156K|GDA_uc004ait.1_Missense_Mutation_p.M124K	p.M198K	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	6	776	+		Myeloproliferative disorder(762;0.0122)	198					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.593T>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468772	0.63625	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;T	0.91068	-2.78;-2.78;-2.78;0.97	5.87	5.87	0.94306	Amidohydrolase 1 (1);	0.187213	0.64402	D	0.000019	D	0.90779	0.7105	L	0.54323	1.7	0.43164	D	0.994951	B;P;P	0.38370	0.092;0.529;0.628	B;P;P	0.45310	0.158;0.464;0.476	D	0.91491	0.5212	10	0.72032	D	0.01	-17.6107	13.7895	0.63131	0.0:0.0:0.0:1.0	.	156;198;198	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	124;198;173;156;198;64	ENSP00000437972:M124K;ENSP00000238018:M198K;ENSP00000351170:M198K;ENSP00000403897:M64K	ENSP00000238018:M198K	M	+	2	0	GDA	74024229	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.281000	0.58965	2.247000	0.74100	0.528000	0.53228	ATG		0.323	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			10	15	0	0	0	0	10	15				
DOLK	22845	broad.mit.edu	37	9	131708963	131708963	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:131708963T>G	ENST00000372586.3	-	1	935	c.620A>C	c.(619-621)cAg>cCg	p.Q207P	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	207					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTTGATGAGCTGGTTGAGGAC	0.542																																						uc004bwr.2		NA																	0					0						c.(619-621)CAG>CCG		dolichol kinase							111.0	108.0	109.0					9																	131708963		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708963T>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.620A>C	9.37:g.131708963T>G	ENSP00000361667:p.Gln207Pro					NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.Q207P	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN			1	1050	-			207			Helical; (Potential).		Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.620A>C	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179639	0.57800	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.88896	-2.44	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000004	D	0.91212	0.7231	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	D	0.89649	0.3868	10	0.28530	T	0.3	-1.2584	14.3474	0.66675	0.0:0.0:0.0:1.0	.	207	Q9UPQ8	DOLK_HUMAN	P	207	ENSP00000361667:Q207P	ENSP00000361667:Q207P	Q	-	2	0	DOLK	130748784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.968000	0.57251	0.379000	0.24179	CAG		0.542	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		40	35	0	0	0	0	40	35				
DMD	1756	broad.mit.edu	37	X	31838157	31838157	+	Missense_Mutation	SNP	C	C	T	rs373749120		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:31838157C>T	ENST00000357033.4	-	50	7450	c.7244G>A	c.(7243-7245)cGt>cAt	p.R2415H	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2411H|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2415					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGAAGTAAACGGTTTACCGC	0.428													C|||	2	0.000529801	0.0015	0.0	3775	,	,		12278	0.0		0.0	False		,,,				2504	0.0					uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(7243-7245)CGT>CAT		dystrophin Dp427m isoform		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,,,,	1,3832		0,1,1630,571	163.0	129.0	140.0		7220,7244,6875,7232,6875,3221,3212,,,,,	-3.5	0.0	X		140	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense,missense,utr-5,utr-5,utr-5,utr-5,utr-5	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	29,29,29,29,29,29,29,,,,,	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign,benign,,,,,	2407/3678,2415/3686,2292/3563,2411/3682,2292/3563,1074/2345,1071/2342,,,,,	31838157	1,10560	2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31838157C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7244G>A	X.37:g.31838157C>T	ENSP00000354923:p.Arg2415His					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.R1071H|DMD_uc004dcx.2_Missense_Mutation_p.R1074H|DMD_uc004dcz.2_Missense_Mutation_p.R2292H|DMD_uc004dcy.1_Missense_Mutation_p.R2411H|DMD_uc004ddb.1_Missense_Mutation_p.R2407H|DMD_uc004ddd.1_Intron	p.R2415H	NM_004006	NP_003997	P11532	DMD_HUMAN			50	7488	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2415					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7244G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	6.914	0.538349	0.13250	2.61E-4	0.0	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.35236	1.32;1.32;1.32	5.99	-3.47	0.04753	.	0.532611	0.12999	N	0.421812	T	0.18718	0.0449	N	0.12182	0.205	0.09310	N	0.999998	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.13255	-1.0516	10	0.35671	T	0.21	.	12.4144	0.55486	0.0:0.5495:0.0:0.4505	.	2407;2415;2411;1074;1071	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	H	2407;1074;1071;111;2411;2415;2415;2292	ENSP00000350765:R111H;ENSP00000367948:R2411H;ENSP00000354923:R2415H	ENSP00000354923:R2415H	R	-	2	0	DMD	31748078	0.431000	0.25546	0.000000	0.03702	0.926000	0.56050	-0.163000	0.09997	-0.800000	0.04433	-1.883000	0.00544	CGT		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	12	0	0	0	0	20	12				
PCDH11X	27328	broad.mit.edu	37	X	91873697	91873697	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:91873697C>A	ENST00000373094.1	+	7	4647	c.3802C>A	c.(3802-3804)Cat>Aat	p.H1268N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1231N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1231N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1260N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1258N|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1250N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1268					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TATTGCCCTCCATCGTAGTCA	0.562																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3802-3804)CAT>AAT		protocadherin 11 X-linked isoform c							230.0	203.0	212.0					X																	91873697		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873697C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3802C>A	X.37:g.91873697C>A	ENSP00000362186:p.His1268Asn					PCDH11X_uc004efl.1_Missense_Mutation_p.H1258N|PCDH11X_uc004efo.1_Missense_Mutation_p.H1231N|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1260N|PCDH11X_uc004efn.1_Missense_Mutation_p.H1250N	p.H1268N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4647	+			1268			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3802C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	4.784	0.145793	0.09134	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.50548	0.75;0.77;0.74;0.74;0.76;0.74	3.19	3.19	0.36642	.	.	.	.	.	T	0.32071	0.0817	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.17653	-1.0362	9	0.72032	D	0.01	.	6.9317	0.24445	0.273:0.727:0.0:0.0	.	1231;1250;1260;1258;1268	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1268;1258;1231;1250;1260;1268;1231	ENSP00000362186:H1268N;ENSP00000362189:H1258N;ENSP00000362180:H1231N;ENSP00000355105:H1250N;ENSP00000384758:H1260N;ENSP00000298274:H1231N	ENSP00000298274:H1231N	H	+	1	0	PCDH11X	91760353	0.000000	0.05858	0.309000	0.25155	0.218000	0.24690	0.349000	0.20055	1.850000	0.53721	0.466000	0.42574	CAT		0.562	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		73	83	1	0	2.82e-13	3.36e-13	73	83				
CHRDL1	91851	broad.mit.edu	37	X	109943927	109943927	+	Silent	SNP	T	T	C			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:109943927T>C	ENST00000372045.1	-	7	674	c.543A>G	c.(541-543)gaA>gaG	p.E181E	CHRDL1_ENST00000434224.1_Silent_p.E108E|CHRDL1_ENST00000444321.2_Silent_p.E187E|CHRDL1_ENST00000218054.4_Silent_p.E187E|CHRDL1_ENST00000372042.1_Silent_p.E188E|CHRDL1_ENST00000482160.1_Silent_p.E108E|CHRDL1_ENST00000394797.4_Silent_p.E187E			Q9BU40	CRDL1_HUMAN	chordin-like 1	181					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATCAGAATGTTCCCATGACA	0.403																																						uc004eou.3		NA																	0					0						c.(562-564)GAA>GAG		chordin-like 1 isoform 1 precursor							195.0	168.0	177.0					X																	109943927		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109943927T>C	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.543A>G	X.37:g.109943927T>C						CHRDL1_uc004eov.2_Silent_p.E182E|CHRDL1_uc004eow.2_Silent_p.E187E|CHRDL1_uc010nps.2_Silent_p.E187E|CHRDL1_uc004eot.2_Silent_p.E108E|CHRDL1_uc011mss.1_Silent_p.E102E	p.E188E	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			7	913	-			181					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.564A>G																																																																																					0.403	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		12	28	0	0	0	0	12	28				
ARHGAP36	158763	broad.mit.edu	37	X	130218231	130218231	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:130218231G>T	ENST00000276211.5	+	5	943	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A188S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A64S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	200					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGAAGACGGAGCCCTGCTGCT	0.463																																						uc004evz.2		NA																	0				ovary(3)	3						c.(598-600)GCC>TCC		hypothetical protein LOC158763 precursor							36.0	35.0	35.0					X																	130218231		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218231G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.598G>T	X.37:g.130218231G>T	ENSP00000276211:p.Ala200Ser					ARHGAP36_uc004ewa.2_Missense_Mutation_p.A188S|ARHGAP36_uc004ewb.2_Missense_Mutation_p.A169S|ARHGAP36_uc004ewc.2_Missense_Mutation_p.A64S	p.A200S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			5	943	+			200					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.598G>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	0.062	-1.222504	0.01530	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.08984	3.14;3.14;3.16;3.03	4.99	4.06	0.47325	.	0.000000	0.50627	D	0.000107	T	0.06096	0.0158	N	0.19112	0.55	0.41204	D	0.986395	P;P;B	0.36110	0.537;0.537;0.402	B;B;B	0.42555	0.391;0.391;0.219	T	0.34875	-0.9811	10	0.07644	T	0.81	.	8.862	0.35263	0.0:0.0:0.7777:0.2223	.	169;188;200	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	200;188;152;169;64	ENSP00000276211:A200S;ENSP00000359960:A188S;ENSP00000408515:A169S;ENSP00000359959:A64S	ENSP00000276211:A200S	A	+	1	0	ARHGAP36	130045912	0.187000	0.23238	0.960000	0.40013	0.020000	0.10135	0.223000	0.17719	2.451000	0.82905	0.529000	0.55759	GCC		0.463	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		13	9	1	0	1.58e-08	1.86e-08	13	9				
IL9R	3581	broad.mit.edu	37	X	155233408	155233408	+	Silent	SNP	A	A	G			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:155233408A>G	ENST00000244174.5	+	4	500	c.321A>G	c.(319-321)ccA>ccG	p.P107P	IL9R_ENST00000540897.1_Missense_Mutation_p.H142R|IL9R_ENST00000424344.3_Silent_p.P86P|IL9R_ENST00000369423.2_Missense_Mutation_p.H152R	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	107					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCGTGCTGCCACCTGAGGCAG	0.607																																						uc004fnv.1		NA																	0					0						c.(319-321)CCA>CCG		interleukin 9 receptor precursor							114.0	104.0	107.0					X																	155233408		2203	4296	6499	SO:0001819	synonymous_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155233408A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.321A>G	X.37:g.155233408A>G						IL9R_uc010nvn.2_Silent_p.P86P|IL9R_uc004fnu.1_Missense_Mutation_p.H152R	p.P107P	NM_002186	NP_002177	Q01113	IL9R_HUMAN			4	500	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		107			Extracellular (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Silent	SNP	ENST00000244174.5	37	c.321A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	0.259	-1.000973	0.02128	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	T;T	0.28895	1.59;1.59	1.29	-1.86	0.07760	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26360	-1.0105	8	0.25106	T	0.35	-9.1677	4.6979	0.12813	0.4369:0.0:0.5631:0.0	.	152	B9ZVT0	.	R	152;142	ENSP00000358431:H152R;ENSP00000438112:H142R	ENSP00000358431:H152R	H	+	2	0	IL9R	154886602	0.060000	0.20803	0.035000	0.18076	0.106000	0.19336	-1.525000	0.02231	-0.639000	0.05502	0.238000	0.17879	CAC		0.607	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		9	19	0	0	0	0	9	19				
CHD5	26038	broad.mit.edu	37	1	6202630	6202632	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:6202630_6202632delGAT	ENST00000262450.3	-	14	2176_2178	c.2077_2079delATC	c.(2077-2079)atcdel	p.I693del	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGTGGAGTCGATGTACCATGGC	0.635																																						uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2077-2079)ATCdel		chromodomain helicase DNA binding protein 5																																				SO:0001651	inframe_deletion	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202630_6202632delGAT	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2077_2079delATC	1.37:g.6202630_6202632delGAT	ENSP00000262450:p.Ile693del					CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	p.I693del	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2177_2179	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	693					A8KAP8|A8MQ44|D3DSH9|O60740	In_Frame_Del	DEL	ENST00000262450.3	37	c.2077_2079delATC	CCDS57.1																																																																																				0.635	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		18	72	NA	NA	NA	NA	18	72	---	---	---	---
SPOCD1	90853	broad.mit.edu	37	1	32263807	32263824	+	Splice_Site	DEL	CCCTTTTCTCCTCCTGGT	CCCTTTTCTCCTCCTGGT	-	rs200500544|rs377148747		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:32263807_32263824delCCCTTTTCTCCTCCTGGT	ENST00000360482.2	-	9	2258_2275	c.2129_2146delACCAGGAGGAGAAAAGGG	c.(2128-2148)gaccaggaggagaaaaggggc>ggc	p.DQEEKR710del	SPOCD1_ENST00000533231.1_Splice_Site_p.DQEEKR710del|SPOCD1_ENST00000257100.3_Splice_Site_p.DQEEKR203del|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	710	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.E713K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCAGCACTCACCCTTTTCTCCTCCTGGTCCCGCCAGCG	0.624																																						uc001bts.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(5)|breast(1)	6						c.e9+1		SPOC domain containing 1																																				SO:0001630	splice_region_variant	90853				transcription, DNA-dependent			g.chr1:32263807_32263824delCCCTTTTCTCCTCCTGGT	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2145+1ACCAGGAGGAGAAAAGGG>-	1.37:g.32263807_32263824delCCCTTTTCTCCTCCTGGT						SPOCD1_uc001btt.2_Splice_Site_p.R21_splice|SPOCD1_uc001btu.2_Splice_Site_p.R715_splice|SPOCD1_uc001btv.2_Splice_Site_p.R208_splice|SPOCD1_uc001btw.1_Splice_Site_p.R59_splice	p.R715_splice	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	9	2203	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)						Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Splice_Site	DEL	ENST00000360482.2	37	c.2145_splice	CCDS347.1																																																																																				0.624	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	In_Frame_Del	8	64	NA	NA	NA	NA	8	64	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(7897-7902)CACAAAfs		antigen identified by monoclonal antibody Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902204_129902205delTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs					MKI67_uc001lkf.2_Frame_Shift_Del_p.H2273fs|MKI67_uc009yav.1_Frame_Shift_Del_p.H2208fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.H1783fs	p.H2633fs	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8094_8095	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633_2634			14.|16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.7899_7900delCA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	110	NA	NA	NA	NA	7	110	---	---	---	---
FOLR1	2348	broad.mit.edu	37	11	71903251	71903253	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:71903251_71903253delCTT	ENST00000393679.1	+	2	470_472	c.34_36delCTT	c.(34-36)cttdel	p.L13del	FOLR1_ENST00000393681.2_In_Frame_Del_p.L13del|FOLR1_ENST00000393676.3_In_Frame_Del_p.L13del|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_In_Frame_Del_p.L13del			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	13					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GCTGCTGCTCCTTCTAGTGTGGG	0.547																																						uc001orz.1		NA																	0				ovary(1)	1						c.(34-36)CTTdel		folate receptor 1 precursor																																				SO:0001651	inframe_deletion	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71903251_71903253delCTT	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.34_36delCTT	11.37:g.71903251_71903253delCTT	ENSP00000377284:p.Leu13del					FOLR1_uc001osa.1_In_Frame_Del_p.L13del|FOLR1_uc001osb.1_In_Frame_Del_p.L13del|FOLR1_uc001osc.1_In_Frame_Del_p.L13del|FOLR1_uc001osd.1_In_Frame_Del_p.L13del	p.L13del	NM_016724	NP_057936	P15328	FOLR1_HUMAN			3	172_174	+			13					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	In_Frame_Del	DEL	ENST00000393679.1	37	c.34_36delCTT	CCDS8211.1																																																																																				0.547	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		37	99	NA	NA	NA	NA	37	99	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4945271	4945272	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr16:4945271_4945272insT	ENST00000345988.2	-	11	1321_1322	c.1232_1233insA	c.(1231-1233)gagfs	p.E411fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.E409fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	411					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCCCCTCAAAGTCACA	0.629																																						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1231-1233)GAGfs		periplakin																																				SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945271_4945272insT	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1233dupA	16.37:g.4945272_4945272dupT	ENSP00000340510:p.Glu411fs						p.E411fs	NM_002705	NP_002696	O60437	PEPL_HUMAN			11	1322_1323	-			411			Spectrin 2.		O60314|O60454|Q14C98	Frame_Shift_Ins	INS	ENST00000345988.2	37	c.1232_1233insA	CCDS10526.1																																																																																				0.629	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		14	39	NA	NA	NA	NA	14	39	---	---	---	---
CCDC124	115098	broad.mit.edu	37	19	18053527	18053529	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:18053527_18053529delGGA	ENST00000597436.1	+	3	329_331	c.222_224delGGA	c.(220-225)ctggag>ctg	p.E77del	CCDC124_ENST00000445755.2_In_Frame_Del_p.E77del	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	77					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						AGCGCCTACTGGAGGAGGAGGAC	0.675																																						uc010xpz.1		NA																	0					0						c.(220-225)CTGGAG>CTG		coiled-coil domain containing 124																																				SO:0001651	inframe_deletion	115098						DNA binding	g.chr19:18053527_18053529delGGA	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.222_224delGGA	19.37:g.18053536_18053538delGGA	ENSP00000471455:p.Glu77del					CCDC124_uc002nhs.2_In_Frame_Del_p.E77del	p.E77del	NM_001136203	NP_001129675	Q96CT7	CC124_HUMAN			3	267_269	+			77			Potential.			In_Frame_Del	DEL	ENST00000597436.1	37	c.222_224delGGA	CCDS12369.1																																																																																				0.675	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37619779	37619780	+	Frame_Shift_Ins	INS	-	-	T	rs142983916		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:37619779_37619780insT	ENST00000337995.3	+	5	2101_2102	c.1886_1887insT	c.(1885-1890)catcttfs	p.L630fs	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGTTCACATCTTTCTCGGC	0.426																																						uc002ofl.2		NA																	0					0						c.(1885-1887)CATfs		zinc finger protein 420																																				SO:0001589	frameshift_variant	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619779_37619780insT	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1887dupT	19.37:g.37619780_37619780dupT	ENSP00000338770:p.Leu630fs						p.H629fs	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2101_2102	+			629			C2H2-type 18.		B2RDY6|Q96ML5	Frame_Shift_Ins	INS	ENST00000337995.3	37	c.1886_1887insT	CCDS12498.1																																																																																				0.426	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		38	35	NA	NA	NA	NA	38	35	---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108478175	108478175	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:108478175delA	ENST00000408999.3	+	15	2261	c.2184delA	c.(2182-2184)tcafs	p.S728fs	RGPD4_ENST00000354986.4_Frame_Shift_Del_p.S728fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	728					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACAGTGATTCAAATCTTTCAG	0.373																																						uc010ywk.1		NA																	0				skin(2)	2						c.(2182-2184)TCAfs		RANBP2-like and GRIP domain containing 4							35.0	27.0	30.0					2																	108478175		691	1574	2265	SO:0001589	frameshift_variant	285190				intracellular transport		binding	g.chr2:108478175delA	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2184delA	2.37:g.108478175delA	ENSP00000386810:p.Ser728fs					RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	p.S728fs	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			15	2266	+			728					B9A029	Frame_Shift_Del	DEL	ENST00000408999.3	37	c.2184delA	CCDS46381.1																																																																																				0.373	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		8	45	NA	NA	NA	NA	8	45	---	---	---	---
NCL	4691	broad.mit.edu	37	2	232326373	232326378	+	In_Frame_Del	DEL	TCCTCG	TCCTCG	-	rs151176710|rs150307153	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:232326373_232326378delTCCTCG	ENST00000322723.4	-	3	726_731	c.486_491delCGAGGA	c.(484-492)gacgaggat>gat	p.162_164DED>D	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	162	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ttcatcctcatcctcgtcctcgtcat	0.519																																						uc002vru.2		NA																	0				ovary(2)|pancreas(1)	3						c.(484-492)GACGAGGAT>GAT		nucleolin																																				SO:0001651	inframe_deletion	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326373_232326378delTCCTCG		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.486_491delCGAGGA	2.37:g.232326379_232326384delTCCTCG	ENSP00000318195:p.Asp168_Glu169del					SNORD82_uc010fxw.1_5'Flank	p.162_164DED>D	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	627_632	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	162_164			Asp/Glu-rich (acidic).		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	ENST00000322723.4	37	c.486_491delCGAGGA	CCDS33397.1																																																																																				0.519	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		22	44	NA	NA	NA	NA	22	44	---	---	---	---
FIBCD1	84929	broad.mit.edu	37	9	133805423	133805423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:133805423delC	ENST00000372338.4	-	2	325	c.83delG	c.(82-84)tgcfs	p.C28fs	FIBCD1_ENST00000372337.2_5'UTR|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.C28fs|FIBCD1_ENST00000253018.4_5'UTR	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	28						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CACGTAGCCGCAGCTCGGCCG	0.682																																						uc004bzz.2		NA																	0					0						c.(82-84)TGCfs		fibrinogen C domain containing 1							9.0	7.0	8.0					9																	133805423		2055	4080	6135	SO:0001589	frameshift_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133805423delC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.83delG	9.37:g.133805423delC	ENSP00000361413:p.Cys28fs					FIBCD1_uc011mcc.1_Frame_Shift_Del_p.C28fs|FIBCD1_uc011mcd.1_Frame_Shift_Del_p.C36fs	p.C28fs	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	2	328	-	all_hematologic(7;0.0028)		28			Cytoplasmic (Potential).		A3KFK0|Q6UXK6|Q96SJ7	Frame_Shift_Del	DEL	ENST00000372338.4	37	c.83delG	CCDS6937.1																																																																																				0.682	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		2	4	NA	NA	NA	NA	2	4	---	---	---	---
