#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
CACHD1	57685	broad.mit.edu	37	1	65047921	65047921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:65047921C>T	ENST00000371073.2	+	3	344	c.344C>T	c.(343-345)aCg>aTg	p.T115M	CACHD1_ENST00000495994.1_3'UTR|MIR4794_ENST00000582305.1_RNA|CACHD1_ENST00000290039.5_Missense_Mutation_p.T64M			Q5VU97	CAHD1_HUMAN	cache domain containing 1	115					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATCCTATACGGCTCACCTA	0.428																																						uc001dbo.1		NA																	0				ovary(2)	2						c.(190-192)ACG>ATG		cache domain containing 1							199.0	184.0	189.0					1																	65047921		1895	4120	6015	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65047921C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.344C>T	1.37:g.65047921C>T	ENSP00000360113:p.Thr115Met					CACHD1_uc001dbp.1_Translation_Start_Site|CACHD1_uc001dbq.1_Translation_Start_Site	p.T64M	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			3	296	+			115			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.191C>T		.	.	.	.	.	.	.	.	.	.	C	28.8	4.951057	0.92660	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.23754	1.89;1.91	5.87	5.87	0.94306	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33624	-0.9861	10	0.44086	T	0.13	-20.7482	20.2182	0.98305	0.0:1.0:0.0:0.0	.	115	Q5VU97	CAHD1_HUMAN	M	115;64	ENSP00000360113:T115M;ENSP00000290039:T64M	ENSP00000290039:T64M	T	+	2	0	CACHD1	64820509	1.000000	0.71417	0.816000	0.32577	0.940000	0.58332	7.348000	0.79366	2.785000	0.95823	0.655000	0.94253	ACG		0.428	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		29	70	0	0	0	0	29	70				
AHCYL1	10768	broad.mit.edu	37	1	110563392	110563392	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:110563392C>T	ENST00000369799.5	+	16	1872	c.1505C>T	c.(1504-1506)gCc>gTc	p.A502V	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	502					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TCATTTGATGCCCACCTTACA	0.433																																						uc001dyx.2		NA																	0				ovary(1)	1						c.(1504-1506)GCC>GTC		S-adenosylhomocysteine hydrolase-like 1							155.0	161.0	159.0					1																	110563392		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110563392C>T	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1505C>T	1.37:g.110563392C>T	ENSP00000358814:p.Ala502Val					AHCYL1_uc010ovw.1_Missense_Mutation_p.A455V|AHCYL1_uc001dyy.2_Missense_Mutation_p.A455V|AHCYL1_uc010ovx.1_Missense_Mutation_p.A455V	p.A502V	NM_006621	NP_006612	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	16	1872	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	502					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1505C>T	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241332	0.95272	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75367	-0.93;-0.93;-0.93	5.94	5.94	0.96194	.	0.046774	0.85682	D	0.000000	T	0.74298	0.3698	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66412	-0.5930	10	0.10377	T	0.69	-8.6355	20.3736	0.98901	0.0:1.0:0.0:0.0	.	502	O43865	SAHH2_HUMAN	V	502;455;455	ENSP00000358814:A502V;ENSP00000352092:A455V;ENSP00000377238:A455V	ENSP00000352092:A455V	A	+	2	0	AHCYL1	110364915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.820000	0.97059	0.650000	0.86243	GCC		0.433	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			4	153	0	0	0	0	4	153				
SPAG17	200162	broad.mit.edu	37	1	118629569	118629569	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:118629569G>A	ENST00000336338.5	-	11	1487	c.1422C>T	c.(1420-1422)gaC>gaT	p.D474D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	474						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGTCTAGCCCGTCTGCTCTGG	0.517																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1420-1422)GAC>GAT		sperm associated antigen 17							135.0	129.0	131.0					1																	118629569		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118629569G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1422C>T	1.37:g.118629569G>A							p.D474D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	11	1490	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	474					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.1422C>T	CCDS899.1																																																																																				0.517	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		28	59	0	0	0	0	28	59				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		11	31	0	0	0	0	11	31				
ADAMTS4	9507	broad.mit.edu	37	1	161160954	161160954	+	Missense_Mutation	SNP	G	G	A	rs114728887		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:161160954G>A	ENST00000367996.5	-	9	2916	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	830	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGGGGCGCCGCCGAAGGATC	0.637																																						uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2488-2490)CGG>TGG		ADAM metallopeptidase with thrombospondin type 1							23.0	27.0	26.0					1																	161160954		2193	4289	6482	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161160954G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2488C>T	1.37:g.161160954G>A	ENSP00000356975:p.Arg830Trp						p.R830W	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	2916	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		830			Spacer.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.2488C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891235	0.52014	.	.	ENSG00000158859	ENST00000367996	T	0.64618	-0.11	4.5	-0.134	0.13481	.	0.319303	0.22236	N	0.062756	T	0.24509	0.0594	N	0.19112	0.55	0.25526	N	0.987327	P	0.49862	0.929	B	0.37550	0.253	T	0.25293	-1.0136	10	0.66056	D	0.02	.	13.4396	0.61106	0.0:0.0:0.2336:0.7664	.	830	O75173	ATS4_HUMAN	W	830	ENSP00000356975:R830W	ENSP00000356975:R830W	R	-	1	2	ADAMTS4	159427578	0.000000	0.05858	0.821000	0.32701	0.990000	0.78478	0.345000	0.19979	-0.107000	0.12088	0.555000	0.69702	CGG		0.637	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		11	26	0	0	0	0	11	26				
TNR	7143	broad.mit.edu	37	1	175375720	175375720	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:175375720G>A	ENST00000367674.2	-	3	839	c.131C>T	c.(130-132)tCa>tTa	p.S44L	TNR_ENST00000263525.2_Missense_Mutation_p.S44L			Q92752	TENR_HUMAN	tenascin R	44					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCTCCACTGACTGTCTCTG	0.517																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(130-132)TCA>TTA		tenascin R precursor							257.0	219.0	232.0					1																	175375720		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375720G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.131C>T	1.37:g.175375720G>A	ENSP00000356646:p.Ser44Leu					TNR_uc009wwu.1_Missense_Mutation_p.S44L|TNR_uc010pmz.1_Missense_Mutation_p.S44L	p.S44L	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	212	-	Renal(580;0.146)		44					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.131C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698128	0.15106	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.25912	1.77;1.77	5.28	3.35	0.38373	.	0.405860	0.24781	N	0.035651	T	0.17831	0.0428	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.16600	-1.0397	10	0.66056	D	0.02	.	6.8727	0.24129	0.1531:0.1464:0.7005:0.0	.	44;44	B4DIX8;Q92752	.;TENR_HUMAN	L	44	ENSP00000356646:S44L;ENSP00000263525:S44L	ENSP00000263525:S44L	S	-	2	0	TNR	173642343	0.600000	0.26899	0.008000	0.14137	0.142000	0.21351	1.534000	0.36051	1.186000	0.42985	0.561000	0.74099	TCA		0.517	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	115	0	0	0	0	19	115				
ACTA1	58	broad.mit.edu	37	1	229568748	229568748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:229568748G>A	ENST00000366684.3	-	2	217	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ACTA1_ENST00000366683.2_Missense_Mutation_p.R39C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	39					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGTCGGGGGCGGCCCACGATG	0.726																																						uc001htm.2		NA																	0					0						c.(115-117)CGC>TGC		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						23.0	26.0	25.0					1																	229568748		2200	4295	6495	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568748G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.115C>T	1.37:g.229568748G>A	ENSP00000355645:p.Arg39Cys						p.R39C	NM_001100	NP_001091	P68133	ACTS_HUMAN			2	220	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	39					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.115C>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524979	0.64747	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.92149	-2.98;-2.98	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.91090	3.175	0.51233	D	0.999917	D	0.89917	1.0	D	0.87578	0.998	D	0.97722	1.0197	10	0.87932	D	0	.	16.1727	0.81828	0.0:0.0:1.0:0.0	.	39	P68133	ACTS_HUMAN	C	39	ENSP00000355645:R39C;ENSP00000355644:R39C	ENSP00000312351:R39C	R	-	1	0	ACTA1	227635371	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.741000	0.84997	2.338000	0.79540	0.655000	0.94253	CGC		0.726	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		5	33	0	0	0	0	5	33				
TMEM72	643236	broad.mit.edu	37	10	45430313	45430313	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:45430313A>G	ENST00000544540.1	+	4	689	c.205A>G	c.(205-207)Aag>Gag	p.K69E	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	187						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CATCCACATGAAGAGTATCCT	0.602																																						uc001jbn.2		NA																	0					0						c.(559-561)AAG>GAG		transmembrane protein 72							144.0	151.0	149.0					10																	45430313		1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430313A>G	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.205A>G	10.37:g.45430313A>G	ENSP00000439911:p.Lys69Glu					uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.K69E	p.K187E	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	756	+			187					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.559A>G		.	.	.	.	.	.	.	.	.	.	A	23.7	4.443360	0.83993	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.18	5.18	0.71444	.	0.306548	0.30020	N	0.010612	T	0.60405	0.2266	M	0.65975	2.015	0.36792	D	0.884901	P	0.44139	0.827	B	0.44133	0.442	T	0.72010	-0.4419	9	0.66056	D	0.02	-2.9773	13.2554	0.60076	1.0:0.0:0.0:0.0	.	187	A0PK05	TMM72_HUMAN	E	187;69	.	ENSP00000374234:K187E	K	+	1	0	TMEM72	44750319	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.738000	0.62073	2.086000	0.62901	0.460000	0.39030	AAG		0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		46	156	0	0	0	0	46	156				
PSAP	5660	broad.mit.edu	37	10	73578462	73578462	+	Missense_Mutation	SNP	G	G	A	rs376015353		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:73578462G>A	ENST00000394936.3	-	13	1598	c.1451C>T	c.(1450-1452)tCg>tTg	p.S484L	PSAP_ENST00000394934.1_Missense_Mutation_p.S486L			P07602	SAP_HUMAN	prosaposin	484	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CTTATGGGCCGAGGGGCAGGC	0.488																																						uc001jsm.2		NA																	0				ovary(1)	1						c.(1450-1452)TCG>TTG		prosaposin isoform a preproprotein		G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	97.0	105.0	102.0		1460,1457,1451	3.2	0.0	10		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PSAP	NM_001042465.1,NM_001042466.1,NM_002778.2	145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	487/528,486/527,484/525	73578462	1,13005	2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73578462G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.1451C>T	10.37:g.73578462G>A	ENSP00000378394:p.Ser484Leu					PSAP_uc001jsl.2_Missense_Mutation_p.S208L	p.S484L	NM_002778	NP_002769	P07602	SAP_HUMAN			13	1555	-			484			Saposin B-type 4.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.1451C>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473019	0.43942	0.0	1.16E-4	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083;ENST00000394940	D;D	0.90563	-2.69;-2.69	5.35	3.23	0.37069	Saposin-like (2);Saposin B (1);	1.150880	0.06315	N	0.703451	D	0.89532	0.6742	L	0.58810	1.83	0.09310	N	1	P	0.39326	0.668	B	0.35655	0.207	T	0.79841	-0.1633	10	0.62326	D	0.03	-16.0814	14.4577	0.67428	0.0:0.0:0.6047:0.3953	.	484	P07602	SAP_HUMAN	L	484;484;487;486;200;490;410	ENSP00000378394:S484L;ENSP00000378392:S486L	ENSP00000350063:S487L	S	-	2	0	PSAP	73248468	0.000000	0.05858	0.008000	0.14137	0.231000	0.25187	0.453000	0.21811	1.176000	0.42840	0.561000	0.74099	TCG		0.488	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		8	125	0	0	0	0	8	125				
ARL3	403	broad.mit.edu	37	10	104445679	104445679	+	Missense_Mutation	SNP	G	G	A	rs150077149		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:104445679G>A	ENST00000260746.5	-	5	526	c.395C>T	c.(394-396)aCa>aTa	p.T132I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	132					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		AGGGGCTGCTGTGAGCAAATC	0.507																																						uc001kwa.2		NA																	0					0						c.(394-396)ACA>ATA		ADP-ribosylation factor-like 3		G	ILE/THR	0,4406		0,0,2203	102.0	96.0	98.0		395	5.0	1.0	10	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARL3	NM_004311.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	132/183	104445679	1,13005	2203	4300	6503	SO:0001583	missense	403				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding	g.chr10:104445679G>A	U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.395C>T	10.37:g.104445679G>A	ENSP00000260746:p.Thr132Ile						p.T132I	NM_004311	NP_004302	P36405	ARL3_HUMAN		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)	5	553	-		Colorectal(252;0.122)	132					B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	ENST00000260746.5	37	c.395C>T	CCDS7538.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482755	0.84747	0.0	1.16E-4	ENSG00000138175	ENST00000260746	D	0.82711	-1.64	5.89	4.97	0.65823	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	M	0.82433	2.59	0.80722	D	1	P	0.43938	0.822	P	0.45881	0.496	D	0.89262	0.3598	10	0.87932	D	0	-34.7873	16.4244	0.83809	0.0:0.0:0.8674:0.1326	.	132	P36405	ARL3_HUMAN	I	132	ENSP00000260746:T132I	ENSP00000260746:T132I	T	-	2	0	ARL3	104435669	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	9.869000	0.99810	1.493000	0.48517	0.555000	0.69702	ACA		0.507	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311		15	43	0	0	0	0	15	43				
TH	7054	broad.mit.edu	37	11	2191095	2191095	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:2191095G>A	ENST00000381178.1	-	3	208	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	TH_ENST00000381175.1_Missense_Mutation_p.R60W|TH_ENST00000333684.5_Missense_Mutation_p.R37W|TH_ENST00000352909.3_Missense_Mutation_p.R33W	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	64					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAATGAACCGCGGGGACTGT	0.721																																						uc001lvq.2		NA																	0					0						c.(190-192)CGG>TGG		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						12.0	12.0	12.0					11																	2191095		2187	4285	6472	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2191095G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.190C>T	11.37:g.2191095G>A	ENSP00000370571:p.Arg64Trp					TH_uc001lvp.2_Missense_Mutation_p.R60W|TH_uc001lvr.2_Missense_Mutation_p.R33W|TH_uc010qxj.1_Missense_Mutation_p.R37W|TH_uc001lvs.2_Missense_Mutation_p.R33W|TH_uc001lvt.2_Missense_Mutation_p.R37W|TH_uc009ydh.1_5'Flank	p.R64W	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	3	209	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	64					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.190C>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027213	0.54683	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99557	-6.15;-6.16;-6.07;-5.75	3.55	-0.795	0.10915	Tyrosine hydroxylase, conserved site (1);	0.129171	0.49305	D	0.000155	D	0.99140	0.9703	L	0.47190	1.495	0.28167	N	0.928741	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;1.0;1.0	D;D;D;P;D;P	0.73380	0.912;0.98;0.98;0.707;0.94;0.901	D	0.97920	1.0314	10	0.87932	D	0	.	11.8675	0.52501	0.0:0.0:0.4734:0.5266	.	37;37;33;33;64;60	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	W	64;60;33;37	ENSP00000370571:R64W;ENSP00000370567:R60W;ENSP00000325951:R33W;ENSP00000328814:R37W	ENSP00000328814:R37W	R	-	1	2	TH	2147671	0.939000	0.31865	0.965000	0.40720	0.579000	0.36224	1.030000	0.30153	0.000000	0.14550	-0.467000	0.05162	CGG		0.721	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		3	10	0	0	0	0	3	10				
AHNAK	79026	broad.mit.edu	37	11	62290908	62290908	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:62290908T>C	ENST00000378024.4	-	5	11255	c.10981A>G	c.(10981-10983)Atg>Gtg	p.M3661V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3661					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCAGGCATCTTGAACTTG	0.468																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10981-10983)ATG>GTG		AHNAK nucleoprotein isoform 1							225.0	231.0	229.0					11																	62290908		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290908T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10981A>G	11.37:g.62290908T>C	ENSP00000367263:p.Met3661Val					AHNAK_uc001ntk.1_Intron	p.M3661V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11281	-		Melanoma(852;0.155)	3661					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10981A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	15.04	2.715509	0.48622	.	.	ENSG00000124942	ENST00000378024	T	0.01335	5.0	5.32	5.32	0.75619	.	0.000000	0.50627	D	0.000116	T	0.04363	0.0120	M	0.92459	3.31	0.35966	D	0.834968	P	0.46859	0.885	B	0.39805	0.31	T	0.50583	-0.8811	10	0.18710	T	0.47	-18.5299	14.9787	0.71296	0.0:0.0:0.0:1.0	.	3661	Q09666	AHNK_HUMAN	V	3661	ENSP00000367263:M3661V	ENSP00000367263:M3661V	M	-	1	0	AHNAK	62047484	0.995000	0.38212	1.000000	0.80357	0.944000	0.59088	2.317000	0.43770	2.017000	0.59298	0.472000	0.43445	ATG		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		55	177	0	0	0	0	55	177				
PYGM	5837	broad.mit.edu	37	11	64521023	64521023	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:64521023C>T	ENST00000164139.3	-	11	1769	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	PYGM_ENST00000377432.3_Silent_p.A369A|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	457					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTGGATGCGCGCCACGCCGT	0.652																																						uc001oax.3		NA																	0				ovary(2)	2						c.(1369-1371)GCG>GCA		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						48.0	27.0	34.0					11																	64521023		2196	4292	6488	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521023C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1371G>A	11.37:g.64521023C>T						PYGM_uc001oay.3_Silent_p.A369A	p.A457A	NM_005609	NP_005600	P11217	PYGM_HUMAN			11	2188	-			457					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1371G>A	CCDS8079.1																																																																																				0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		3	5	0	0	0	0	3	5				
FEZ1	9638	broad.mit.edu	37	11	125359382	125359382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:125359382C>A	ENST00000278919.3	-	2	526	c.292G>T	c.(292-294)Gag>Tag	p.E98*	FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E98*|FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E98*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	98	Poly-Glu.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TGAAGGGTCTCCTCCTCCTCT	0.493																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(292-294)GAG>TAG		zygin 1 isoform 1							144.0	132.0	136.0					11																	125359382		2201	4299	6500	SO:0001587	stop_gained	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359382C>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.292G>T	11.37:g.125359382C>A	ENSP00000278919:p.Glu98*					FEZ1_uc010sbc.1_Nonsense_Mutation_p.E98*|FEZ1_uc001qby.1_Nonsense_Mutation_p.E98*	p.E98*	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	444	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	98			Poly-Glu.		O00679|O00728|Q6IBI7	Nonsense_Mutation	SNP	ENST00000278919.3	37	c.292G>T	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	38	6.707016	0.97776	.	.	ENSG00000149557	ENST00000278919;ENST00000366139;ENST00000524435	.	.	.	5.37	5.37	0.77165	.	0.046361	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.0277	18.7084	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000278919:E98X	E	-	1	0	FEZ1	124864592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.616000	0.83018	2.526000	0.85167	0.650000	0.86243	GAG		0.493	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		7	61	1	0	0.00198382	0.00217653	7	61				
HSP90B1	7184	broad.mit.edu	37	12	104340443	104340443	+	Missense_Mutation	SNP	C	C	T	rs372636341		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:104340443C>T	ENST00000299767.5	+	15	2257	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	692					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGACACCCGCTGATCAGA	0.323																																						uc001tkb.1		NA																	0				ovary(2)|skin(1)	3						c.(2074-2076)CCG>CTG		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)	C	LEU/PRO	0,4406		0,0,2203	92.0	95.0	94.0		2075	5.5	1.0	12		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSP90B1	NM_003299.1	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	692/804	104340443	1,13005	2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104340443C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2075C>T	12.37:g.104340443C>T	ENSP00000299767:p.Pro692Leu					HSP90B1_uc010swg.1_Missense_Mutation_p.P357L|HSP90B1_uc009zui.1_Intron	p.P692L	NM_003299	NP_003290	P14625	ENPL_HUMAN			15	2180	+			692					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2075C>T	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423946|5.423946	0.96111|0.96111	0.0|0.0	1.16E-4|1.16E-4	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.12147|.	2.71|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87672|0.87672	0.6236|0.6236	H|H	0.94808|0.94808	3.585|3.585	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90423|0.90423	0.4418|0.4418	10|5	0.87932|.	D|.	0|.	.|.	19.8184|19.8184	0.96581|0.96581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	692|.	P14625|.	ENPL_HUMAN|.	L|C	692;442|43	ENSP00000299767:P692L|.	ENSP00000299767:P692L|.	P|R	+|+	2|1	0|0	HSP90B1|HSP90B1	102864573|102864573	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.323	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		14	60	0	0	0	0	14	60				
KSR2	283455	broad.mit.edu	37	12	118199176	118199176	+	Missense_Mutation	SNP	T	T	C	rs368855606		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:118199176T>C	ENST00000339824.5	-	4	1353	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	KSR2_ENST00000425217.1_Missense_Mutation_p.Y180C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	209	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGACAATAGTGCTGGAC	0.687																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(538-540)TAT>TGT		kinase suppressor of ras 2		T	CYS/TYR	0,3820		0,0,1910	26.0	31.0	29.0		539	-3.0	0.8	12		29	1,8211		0,1,4105	no	missense	KSR2	NM_173598.4	194	0,1,6015	CC,CT,TT		0.0122,0.0,0.0083	benign	180/922	118199176	1,12031	1910	4106	6016	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199176T>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.626A>G	12.37:g.118199176T>C	ENSP00000339952:p.Tyr209Cys						p.Y180C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	594	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		209			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	T	12.16	1.855240	0.32791	0.0	1.22E-4	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.77620	-1.11;-1.11	4.63	-2.96	0.05547	.	1.661200	0.02803	N	0.123349	T	0.62841	0.2461	L	0.36672	1.1	0.25823	N	0.984261	P	0.39782	0.688	B	0.34824	0.19	T	0.53107	-0.8485	10	0.38643	T	0.18	.	2.4352	0.04481	0.3501:0.0716:0.1202:0.4581	.	209	Q6VAB6	KSR2_HUMAN	C	180;209	ENSP00000389715:Y180C;ENSP00000339952:Y209C	ENSP00000339952:Y209C	Y	-	2	0	KSR2	116683559	0.999000	0.42202	0.769000	0.31535	0.901000	0.52897	0.586000	0.23894	-0.754000	0.04715	-0.669000	0.03829	TAT		0.687	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	19	0	0	0	0	7	19				
GCN1L1	10985	broad.mit.edu	37	12	120621395	120621395	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:120621395G>T	ENST00000300648.6	-	5	415	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	135					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTCTCCTTGTCGCTTGGCT	0.542																																						uc001txo.2		NA																	0				ovary(4)	4						c.(403-405)CAA>AAA		GCN1 general control of amino-acid synthesis							98.0	100.0	99.0					12																	120621395		2085	4232	6317	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120621395G>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.403C>A	12.37:g.120621395G>T	ENSP00000300648:p.Gln135Lys						p.Q135K	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			5	416	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		135					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.403C>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727458	0.30593	.	.	ENSG00000089154	ENST00000300648	T	0.00678	5.87	5.93	5.93	0.95920	Armadillo-like helical (1);	0.270973	0.38058	N	0.001840	T	0.00845	0.0028	N	0.24115	0.695	0.49299	D	0.999774	B	0.06786	0.001	B	0.06405	0.002	T	0.59343	-0.7472	10	0.06099	T	0.92	-1.4365	20.3887	0.98946	0.0:0.0:1.0:0.0	.	135	Q92616	GCN1L_HUMAN	K	135	ENSP00000300648:Q135K	ENSP00000300648:Q135K	Q	-	1	0	GCN1L1	119105778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.587000	0.67510	2.828000	0.97474	0.644000	0.83932	CAA		0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			3	73	1	0	0.00909568	0.00970206	3	73				
FEM1B	10116	broad.mit.edu	37	15	68582025	68582025	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr15:68582025A>G	ENST00000306917.4	+	2	944	c.329A>G	c.(328-330)cAt>cGt	p.H110R		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	110					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTAGTCAGCCATGGAGCCAAC	0.448																																						uc002arg.2		NA																	0					0						c.(328-330)CAT>CGT		fem-1 homolog b							90.0	76.0	81.0					15																	68582025		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582025A>G		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.329A>G	15.37:g.68582025A>G	ENSP00000307298:p.His110Arg					FEM1B_uc002arh.2_Missense_Mutation_p.H30R	p.H110R	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN			2	944	+			110			ANK 2.		O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.329A>G	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751365	0.31046	.	.	ENSG00000169018	ENST00000306917	T	0.65178	-0.14	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.045379	0.85682	D	0.000000	T	0.40839	0.1133	N	0.11023	0.085	0.80722	D	1	B	0.29835	0.258	B	0.23150	0.044	T	0.36817	-0.9732	10	0.16420	T	0.52	-10.3885	15.0888	0.72177	1.0:0.0:0.0:0.0	.	110	Q9UK73	FEM1B_HUMAN	R	110	ENSP00000307298:H110R	ENSP00000307298:H110R	H	+	2	0	FEM1B	66369079	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.979000	0.63806	2.149000	0.67028	0.454000	0.30748	CAT		0.448	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			10	24	0	0	0	0	10	24				
DNAH3	55567	broad.mit.edu	37	16	20999384	20999384	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:20999384C>T	ENST00000261383.3	-	45	6604	c.6605G>A	c.(6604-6606)cGa>cAa	p.R2202Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2202	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCGAGTGAATCGTCCTGGGGA	0.453																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6604-6606)CGA>CAA		dynein, axonemal, heavy chain 3							122.0	108.0	113.0					16																	20999384		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999384C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6605G>A	16.37:g.20999384C>T	ENSP00000261383:p.Arg2202Gln					DNAH3_uc010vbd.1_5'Flank	p.R2202Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	45	6605	-			2202			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6605G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172036	0.94807	.	.	ENSG00000158486	ENST00000261383	T	0.50001	0.76	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);	0.189826	0.33272	N	0.005081	T	0.81833	0.4906	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89578	0.3818	10	0.87932	D	0	.	18.4881	0.90836	0.0:1.0:0.0:0.0	.	2202	Q8TD57	DYH3_HUMAN	Q	2202	ENSP00000261383:R2202Q	ENSP00000261383:R2202Q	R	-	2	0	DNAH3	20906885	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.450000	0.80656	2.363000	0.80096	0.585000	0.79938	CGA		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	46	0	0	0	0	14	46				
PHKB	5257	broad.mit.edu	37	16	47644777	47644777	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:47644777G>A	ENST00000323584.5	+	14	1428	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	PHKB_ENST00000455779.1_Silent_p.Q461Q|PHKB_ENST00000299167.8_Silent_p.Q468Q|PHKB_ENST00000566044.1_Silent_p.Q461Q	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	468					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATCCTGTCCAGCGCTATGTCC	0.368																																						uc002eev.3		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(1402-1404)CAG>CAA		phosphorylase kinase, beta isoform a							111.0	99.0	103.0					16																	47644777		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47644777G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1404G>A	16.37:g.47644777G>A						PHKB_uc002eeu.3_Silent_p.Q461Q	p.Q468Q	NM_000293	NP_000284	Q93100	KPBB_HUMAN			14	1456	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	468					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.1404G>A	CCDS10729.1																																																																																				0.368	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			13	34	0	0	0	0	13	34				
RPGRIP1L	23322	broad.mit.edu	37	16	53686477	53686477	+	Missense_Mutation	SNP	C	C	A	rs565152814	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:53686477C>A	ENST00000379925.3	-	15	2172	c.2122G>T	c.(2122-2124)Ggc>Tgc	p.G708C	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.G708C|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G708C|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G708C	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	708	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AATATTCGGCCGCTTTTTTCA	0.348																																						uc002ehp.2		NA																	0				ovary(1)	1						c.(2122-2124)GGC>TGC		RPGRIP1-like isoform a							39.0	40.0	39.0					16																	53686477		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53686477C>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2122G>T	16.37:g.53686477C>A	ENSP00000369257:p.Gly708Cys					RPGRIP1L_uc002eho.3_Missense_Mutation_p.G708C|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.G708C|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.G708C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G708C	p.G708C	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			15	2186	-		all_cancers(37;0.0973)	708			C2 1.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.2122G>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316087	0.60524	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.88509	-2.39;-2.39	5.71	2.73	0.32206	C2 calcium-dependent membrane targeting (1);	0.050651	0.85682	D	0.000000	D	0.92886	0.7737	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.997;0.997	D	0.92016	0.5622	10	0.87932	D	0	-7.4159	11.316	0.49392	0.0:0.8026:0.0:0.1974	.	708;708;708;708	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	C	708	ENSP00000369257:G708C;ENSP00000262135:G708C	ENSP00000262135:G708C	G	-	1	0	RPGRIP1L	52243978	0.994000	0.37717	0.237000	0.24090	0.903000	0.53119	3.227000	0.51262	0.356000	0.24157	0.563000	0.77884	GGC		0.348	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		14	38	1	0	0.00316338	0.00343146	14	38				
ZFHX3	463	broad.mit.edu	37	16	72830437	72830437	+	Silent	SNP	T	T	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:72830437T>G	ENST00000268489.5	-	9	6816	c.6144A>C	c.(6142-6144)ccA>ccC	p.P2048P	ZFHX3_ENST00000397992.5_Silent_p.P1134P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2048	Poly-Pro.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTGGGGGTGGAGGGGGTG	0.642																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(6142-6144)CCA>CCC		zinc finger homeobox 3 isoform A							19.0	28.0	25.0					16																	72830437		2129	4145	6274	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830437T>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6144A>C	16.37:g.72830437T>G						ZFHX3_uc002fcl.2_Silent_p.P1134P	p.P2048P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	6817	-		Ovarian(137;0.13)	2048			Poly-Pro.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6144A>C	CCDS10908.1																																																																																				0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	28	0	0	0	0	4	28				
CBFA2T3	863	broad.mit.edu	37	16	88958773	88958773	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:88958773G>T	ENST00000268679.4	-	4	896	c.500C>A	c.(499-501)cCa>cAa	p.P167Q	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P81Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P81Q|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P91Q|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P142Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	167	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCCGCAGGCTGGGGGCAGGTG	0.647			T	RUNX1	AML																																	uc002fmm.1		NA		Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(499-501)CCA>CAA		myeloid translocation gene on chromosome 16							87.0	67.0	74.0					16																	88958773		2198	4299	6497	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88958773G>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.500C>A	16.37:g.88958773G>T	ENSP00000268679:p.Pro167Gln					CBFA2T3_uc002fml.1_Missense_Mutation_p.P81Q|CBFA2T3_uc010cif.1_Missense_Mutation_p.P106Q|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P142Q	p.P167Q	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	4	686	-			167			Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.500C>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048976	0.55110	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.46451	1.5;0.87;0.89;1.5;1.5	4.33	4.33	0.51752	.	0.053456	0.85682	D	0.000000	T	0.58892	0.2154	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.979;0.984	T	0.63457	-0.6633	10	0.87932	D	0	-4.4788	17.3715	0.87379	0.0:0.0:1.0:0.0	.	142;167;167;81	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	Q	81;167;142;91;81	ENSP00000332122:P81Q;ENSP00000268679:P167Q;ENSP00000395739:P142Q;ENSP00000401254:P91Q;ENSP00000353449:P81Q	ENSP00000268679:P167Q	P	-	2	0	CBFA2T3	87486274	1.000000	0.71417	0.817000	0.32601	0.005000	0.04900	6.190000	0.72057	2.397000	0.81536	0.561000	0.74099	CCA		0.647	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		18	23	1	0	4.35e-09	5.06e-09	18	23				
POLR2A	5430	broad.mit.edu	37	17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:7399844G>A	ENST00000322644.6	+	4	848	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_ENST00000572844.1_Missense_Mutation_p.G150D	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	150					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537																																						uc002ghf.3		NA																	0				pancreas(1)	1						c.(448-450)GGC>GAC		DNA-directed RNA polymerase II A							143.0	147.0	146.0					17																	7399844		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399844G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.449G>A	17.37:g.7399844G>A	ENSP00000314949:p.Gly150Asp					POLR2A_uc002ghe.2_Missense_Mutation_p.G150D	p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN			4	683	+		Prostate(122;0.173)	150					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.449G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987562	0.74589	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.20881	2.04	5.5	5.5	0.81552	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.59967	1.855	0.80722	D	1	B;D	0.53151	0.108;0.958	B;P	0.58130	0.188;0.833	T	0.15838	-1.0423	10	0.87932	D	0	.	18.1636	0.89718	0.0:0.0:1.0:0.0	.	150;150	P24928;Q6NX41	RPB1_HUMAN;.	D	106;150	ENSP00000314949:G150D	ENSP00000314949:G150D	G	+	2	0	SLC35G6	7340568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.589000	0.87451	0.467000	0.42956	GGC		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	158	0	0	0	0	4	158				
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTTCCGTCCCAGTAGATTA	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	p.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(796-798)GGA>AGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	44.0	46.0					17																	7577142		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577142C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R	p.G266R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	990	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.796G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	11	0	0	0	0	6	11				
PSMD11	5717	broad.mit.edu	37	17	30796051	30796051	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:30796051C>T	ENST00000261712.3	+	6	746	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PSMD11_ENST00000457654.2_Silent_p.D161D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AAAAGATGGACGACAAAGCTC	0.448																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NA																	0				ovary(1)	1						c.(481-483)GAC>GAT		proteasome 26S non-ATPase subunit 11							72.0	73.0	73.0					17																	30796051		2203	4300	6503	SO:0001819	synonymous_variant	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30796051C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.483C>T	17.37:g.30796051C>T						PSMD11_uc010wbz.1_Silent_p.D161D|PSMD11_uc002hhm.2_Silent_p.D161D	p.D161D	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		6	523	+		Breast(31;0.159)|Ovarian(249;0.182)	161					A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	ENST00000261712.3	37	c.483C>T	CCDS11272.1																																																																																				0.448	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		14	33	0	0	0	0	14	33				
NAGS	162417	broad.mit.edu	37	17	42083499	42083499	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:42083499T>A	ENST00000293404.3	+	3	927	c.809T>A	c.(808-810)gTg>gAg	p.V270E	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	270	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGCCGCTCCGTGCTTCTCGAC	0.667																																						uc002ies.2		NA																	0					0						c.(808-810)GTG>GAG		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						25.0	26.0	26.0					17																	42083499		2200	4293	6493	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42083499T>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.809T>A	17.37:g.42083499T>A	ENSP00000293404:p.Val270Glu					PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.V270E|NAGS_uc002iet.2_5'UTR	p.V270E	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	809	+		Breast(137;0.00536)|Prostate(33;0.0724)	270					B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.809T>A	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660473	0.88154	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.91521	-2.86	5.02	5.02	0.67125	Aspartate/glutamate/uridylate kinase (2);	0.077400	0.51477	D	0.000092	D	0.91630	0.7355	L	0.56769	1.78	0.35619	D	0.809266	D;D	0.59357	0.985;0.968	P;P	0.53360	0.724;0.655	D	0.94565	0.7766	10	0.66056	D	0.02	-31.0367	12.6804	0.56918	0.0:0.0:0.0:1.0	.	104;270	Q2NKP2;Q8N159	.;NAGS_HUMAN	E	104;270	ENSP00000293404:V270E	ENSP00000293404:V270E	V	+	2	0	NAGS	39439025	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.013000	0.64023	1.883000	0.54544	0.374000	0.22700	GTG		0.667	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		10	16	0	0	0	0	10	16				
LRRC30	339291	broad.mit.edu	37	18	7231400	7231400	+	Silent	SNP	C	C	T	rs201568553	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:7231400C>T	ENST00000383467.2	+	1	278	c.264C>T	c.(262-264)ccC>ccT	p.P88P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	88								p.P88P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCTCCCTCCCGAGGTGGGGA	0.587													C|||	7	0.00139776	0.0	0.0	5008	,	,		18590	0.001		0.0	False		,,,				2504	0.0061					uc010wzk.1		NA																	1	Substitution - coding silent(1)		central_nervous_system(1)	ovary(1)|liver(1)	2						c.(262-264)CCC>CCT		leucine rich repeat containing 30							50.0	52.0	51.0					18																	7231400		1909	4133	6042	SO:0001819	synonymous_variant	339291							g.chr18:7231400C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.264C>T	18.37:g.7231400C>T							p.P88P	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	264	+			88			LRR 1.			Silent	SNP	ENST00000383467.2	37	c.264C>T	CCDS42409.1																																																																																				0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		9	24	0	0	0	0	9	24				
DSG1	1828	broad.mit.edu	37	18	28934345	28934345	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:28934345C>T	ENST00000257192.4	+	15	2398	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P88L	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	729					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTAGGTTCCCCTGCTGGCTCT	0.453																																						uc002kwp.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(2185-2187)CCT>CTT		desmoglein 1 preproprotein							134.0	132.0	133.0					18																	28934345		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934345C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2186C>T	18.37:g.28934345C>T	ENSP00000257192:p.Pro729Leu					DSG1_uc010xbp.1_Missense_Mutation_p.P88L	p.P729L	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2398	+			729			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2186C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421256	0.42918	.	.	ENSG00000134760	ENST00000257192	T	0.75704	-0.96	6.04	6.04	0.98038	Cadherin, cytoplasmic domain (1);	0.176046	0.41194	D	0.000936	T	0.68595	0.3018	N	0.12182	0.205	0.80722	D	1	P	0.45569	0.861	P	0.47941	0.562	T	0.69691	-0.5077	10	0.41790	T	0.15	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	729	Q02413	DSG1_HUMAN	L	729	ENSP00000257192:P729L	ENSP00000257192:P729L	P	+	2	0	DSG1	27188343	1.000000	0.71417	0.946000	0.38457	0.867000	0.49689	5.844000	0.69430	2.873000	0.98535	0.563000	0.77884	CCT		0.453	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		32	54	0	0	0	0	32	54				
C18orf54	162681	broad.mit.edu	37	18	51892104	51892104	+	Silent	SNP	C	C	T	rs374556847		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:51892104C>T	ENST00000300091.5	+	5	1088	c.756C>T	c.(754-756)ccC>ccT	p.P252P	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.P31P|C18orf54_ENST00000382911.4_Silent_p.P413P	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	252						extracellular region (GO:0005576)		p.P252P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CTCCTGTTCCCGTTAACTCTG	0.333																																						uc002lfn.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(754-756)CCC>CCT		hypothetical protein LOC162681 precursor		C		1,4405	2.1+/-5.4	0,1,2202	145.0	149.0	148.0		756	0.9	1.0	18		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C18orf54	NM_173529.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		252/373	51892104	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	162681					extracellular region		g.chr18:51892104C>T	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.756C>T	18.37:g.51892104C>T						C18orf54_uc002lfo.3_Silent_p.P413P	p.P252P	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	5	872	+			252					I7HFJ6|Q6MZU3|Q6ZTL6	Silent	SNP	ENST00000300091.5	37	c.756C>T	CCDS11956.1																																																																																				0.333	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		39	120	0	0	0	0	39	120				
TSHZ1	10194	broad.mit.edu	37	18	72999367	72999367	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:72999367G>A	ENST00000580243.1	+	2	2353	c.2005G>A	c.(2005-2007)Gct>Act	p.A669T	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A624T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	669					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCTGGCCAAGGCTGCGTCCCC	0.572																																						uc002lly.2		NA																	0					0						c.(1870-1872)GCT>ACT		teashirt family zinc finger 1							97.0	86.0	90.0					18																	72999367		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999367G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2005G>A	18.37:g.72999367G>A	ENSP00000464391:p.Ala669Thr						p.A624T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2433	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	669					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1870G>A		.	.	.	.	.	.	.	.	.	.	G	0.876	-0.730311	0.03135	.	.	ENSG00000179981	ENST00000322038	T	0.38077	1.16	5.22	0.89	0.19218	.	0.516121	0.21501	N	0.073536	T	0.17023	0.0409	N	0.25201	0.72	0.28370	N	0.920064	B	0.06786	0.001	B	0.09377	0.004	T	0.09818	-1.0657	10	0.16896	T	0.51	-10.7137	3.9345	0.09299	0.1657:0.2942:0.4411:0.099	.	669	Q6ZSZ6	TSH1_HUMAN	T	624	ENSP00000323584:A624T	ENSP00000323584:A624T	A	+	1	0	TSHZ1	71128355	1.000000	0.71417	0.229000	0.23960	0.047000	0.14425	1.398000	0.34554	2.443000	0.82685	0.561000	0.74099	GCT		0.572	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		14	31	0	0	0	0	14	31				
MUC16	94025	broad.mit.edu	37	19	9010979	9010979	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:9010979G>T	ENST00000397910.4	-	37	39142	c.38939C>A	c.(38938-38940)cCc>cAc	p.P12980H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12982					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGCTGGTGGGGGCCACAGA	0.517																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38938-38940)CCC>CAC		mucin 16							148.0	131.0	136.0					19																	9010979		1920	4123	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9010979G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38939C>A	19.37:g.9010979G>T	ENSP00000381008:p.Pro12980His					MUC16_uc010xki.1_Intron	p.P12980H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			37	39143	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38939C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.757	-0.487857	0.04352	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.29397	1.57	1.54	-1.03	0.10102	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	.	.	.	P	0.40197	0.706	B	0.28784	0.094	T	0.17018	-1.0383	8	0.87932	D	0	.	2.6025	0.04870	0.2236:0.3177:0.4587:0.0	.	12980	B5ME49	.	H	12980;133	ENSP00000381008:P12980H	ENSP00000381008:P12980H	P	-	2	0	MUC16	8871979	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.160000	0.00578	-0.217000	0.10033	0.305000	0.20034	CCC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	66	1	0	6.13e-19	7.26e-19	25	66				
ILF3	3609	broad.mit.edu	37	19	10791116	10791116	+	Silent	SNP	G	G	A	rs150021624	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:10791116G>A	ENST00000590261.1	+	8	954	c.954G>A	c.(952-954)gcG>gcA	p.A318A	ILF3_ENST00000250241.8_Silent_p.A318A|ILF3_ENST00000318511.3_Silent_p.A318A|ILF3_ENST00000420083.1_Silent_p.A318A|ILF3_ENST00000588657.1_Silent_p.A318A|ILF3_ENST00000407004.3_Silent_p.A318A|ILF3_ENST00000592763.1_Silent_p.A318A|ILF3_ENST00000589998.1_Silent_p.A318A|ILF3_ENST00000449870.1_Silent_p.A318A			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	318	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACAGAGTGCGCAGGTATAGT	0.507																																						uc002mpn.2		NA																	0				ovary(3)	3						c.(952-954)GCG>GCA		interleukin enhancer binding factor 3 isoform a		G	,,,,	3,4403	6.2+/-15.9	0,3,2200	148.0	126.0	134.0		954,954,954,954,954	4.6	1.0	19	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ILF3	NM_001137673.1,NM_004516.3,NM_012218.3,NM_017620.2,NM_153464.2	,,,,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	,,,,	318/707,318/703,318/895,318/899,318/691	10791116	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10791116G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.954G>A	19.37:g.10791116G>A						ILF3_uc002mpm.2_Silent_p.A318A|ILF3_uc002mpl.2_Silent_p.A318A|ILF3_uc002mpk.2_Silent_p.A318A|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.A318A|ILF3_uc002mpp.2_Silent_p.A139A	p.A318A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		9	1271	+			318			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.954G>A	CCDS12246.1																																																																																				0.507	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			5	33	0	0	0	0	5	33				
ZNF208	7757	broad.mit.edu	37	19	22157207	22157207	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:22157207A>G	ENST00000397126.4	-	4	777	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	210					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)				GGACCAGTTAAAAGCTTTGCC	0.368																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(628-630)TTT>TCT		zinc finger protein 208							62.0	66.0	65.0					19																	22157207		2044	4216	6260	SO:0001583	missense	7757							g.chr19:22157207A>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.629T>C	19.37:g.22157207A>G	ENSP00000380315:p.Phe210Ser					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.F210S	NM_007153	NP_009084					4	778	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.629T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354240	0.41700	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.47869	0.83	2.75	1.63	0.23807	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33614	0.0869	.	.	.	0.09310	N	1	B	0.33549	0.417	B	0.29598	0.104	T	0.18116	-1.0347	8	0.87932	D	0	.	6.7478	0.23470	0.7892:0.0:0.0:0.2108	.	210	O43345	ZN208_HUMAN	S	210	ENSP00000380315:F210S	ENSP00000380315:F210S	F	-	2	0	ZNF208	21949047	0.077000	0.21312	0.000000	0.03702	0.008000	0.06430	1.796000	0.38794	-0.006000	0.14370	0.254000	0.18369	TTT		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		18	49	0	0	0	0	18	49				
GGN	199720	broad.mit.edu	37	19	38877088	38877088	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:38877088C>T	ENST00000334928.6	-	3	946	c.814G>A	c.(814-816)Gga>Aga	p.G272R	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	272	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCGCCTCCGCCGCCCCCC	0.647																																						uc002oij.1		NA																	0					0						c.(814-816)GGA>AGA		gametogenetin							16.0	20.0	19.0					19																	38877088		2006	4012	6018	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877088C>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.814G>A	19.37:g.38877088C>T	ENSP00000334940:p.Gly272Arg					GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.G189R	p.G272R	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	949	-	all_cancers(60;3.4e-06)		272			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.814G>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402403	0.25291	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.03	-0.957	0.10350	.	0.650116	0.12567	N	0.457639	T	0.19565	0.0470	L	0.29908	0.895	0.23156	N	0.998209	B;B	0.27791	0.189;0.189	B;B	0.17433	0.018;0.018	T	0.14924	-1.0455	9	0.51188	T	0.08	0.0086	3.159	0.06514	0.0:0.4847:0.2281:0.2872	.	189;272	Q86UU5-2;Q86UU5	.;GGN_HUMAN	R	272	.	ENSP00000334940:G272R	G	-	1	0	GGN	43568928	0.012000	0.17670	0.851000	0.33527	0.899000	0.52679	0.567000	0.23608	0.122000	0.18314	0.462000	0.41574	GGA		0.647	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		8	41	0	0	0	0	8	41				
PPP5C	5536	broad.mit.edu	37	19	46879819	46879819	+	Silent	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:46879819A>G	ENST00000012443.4	+	4	724	c.621A>G	c.(619-621)aaA>aaG	p.K207K	PPP5C_ENST00000391919.1_Silent_p.K101K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	207	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGCACCGGAAATGTGCCTACC	0.547																																						uc002pem.2		NA																	0				lung(1)|pancreas(1)	2						c.(619-621)AAA>AAG		protein phosphatase 5, catalytic subunit							104.0	89.0	94.0					19																	46879819		2203	4300	6503	SO:0001819	synonymous_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46879819A>G		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.621A>G	19.37:g.46879819A>G						PPP5C_uc010xya.1_Silent_p.K74K|PPP5C_uc002pen.2_Silent_p.K207K	p.K207K	NM_006247	NP_006238	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	4	681	+		Ovarian(192;0.0731)|all_neural(266;0.196)	207			Catalytic.		Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	c.621A>G	CCDS12684.1																																																																																				0.547	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		10	25	0	0	0	0	10	25				
ZNF616	90317	broad.mit.edu	37	19	52619805	52619805	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:52619805C>T	ENST00000600228.1	-	4	873	c.612G>A	c.(610-612)caG>caA	p.Q204Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	204					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(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATGTATCCTCTGATGATTAA	0.393																																						uc002pym.2		NA																	0					0						c.(610-612)CAG>CAA		zinc finger protein 616							148.0	143.0	145.0					19																	52619805		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619805C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.612G>A	19.37:g.52619805C>T						ZNF616_uc002pyn.2_RNA	p.Q204Q	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	895	-			204			C2H2-type 1.		B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.612G>A	CCDS33090.1																																																																																				0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		42	93	0	0	0	0	42	93				
CKAP2L	150468	broad.mit.edu	37	2	113514030	113514030	+	Silent	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:113514030A>G	ENST00000302450.6	-	4	996	c.918T>C	c.(916-918)aaT>aaC	p.N306N	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Silent_p.N141N	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	306						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTGACTCCTATTAACCTTTA	0.408																																						uc002tie.2		NA																	0					0						c.(916-918)AAT>AAC		cytoskeleton associated protein 2-like							107.0	108.0	108.0					2																	113514030		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113514030A>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.918T>C	2.37:g.113514030A>G						CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.N141N|CKAP2L_uc010yxq.1_Silent_p.N141N	p.N306N	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	997	-			306					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.918T>C	CCDS2100.1																																																																																				0.408	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		22	72	0	0	0	0	22	72				
OBSL1	23363	broad.mit.edu	37	2	220422717	220422717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:220422717C>T	ENST00000404537.1	-	11	3674	c.3618G>A	c.(3616-3618)tgG>tgA	p.W1206*	OBSL1_ENST00000265318.4_Nonsense_Mutation_p.W1114*|OBSL1_ENST00000603926.1_Nonsense_Mutation_p.W1206*|OBSL1_ENST00000373876.1_Nonsense_Mutation_p.W1206*|OBSL1_ENST00000265317.5_Nonsense_Mutation_p.W197*|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1206	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CATTGTGGCTCCAGACCACGG	0.687																																						uc010fwk.2		NA																	0					0						c.(3616-3618)TGG>TGA		obscurin-like 1							12.0	15.0	14.0					2																	220422717		1912	4087	5999	SO:0001587	stop_gained	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422717C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3618G>A	2.37:g.220422717C>T	ENSP00000385636:p.Trp1206*					OBSL1_uc002vmh.1_Nonsense_Mutation_p.W197*|OBSL1_uc010zli.1_Nonsense_Mutation_p.W105*|OBSL1_uc010fwl.1_Nonsense_Mutation_p.W681*	p.W1206*	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	11	3675	-		Renal(207;0.0376)	1206			Ig-like 10.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Nonsense_Mutation	SNP	ENST00000404537.1	37	c.3618G>A	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.704583|7.704583	0.98444|0.98444	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000456147|ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	.|.	.|.	.|.	4.28|4.28	3.39|3.39	0.38822|0.38822	.|.	.|.	.|.	.|.	.|.	T|.	0.24314|.	0.0589|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22871|.	-1.0204|.	3|.	.|0.02654	.|T	.|1	.|.	10.5571|10.5571	0.45123|0.45123	0.0:0.905:0.0:0.095|0.0:0.905:0.0:0.095	.|.	.|.	.|.	.|.	E|X	200|1114;1206;1206;197	.|.	.|ENSP00000265317:W197X	G|W	-|-	2|3	0|0	OBSL1|OBSL1	220130961|220130961	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.418000|0.418000	0.31294|0.31294	3.219000|3.219000	0.51200|0.51200	1.952000|1.952000	0.56665|0.56665	0.313000|0.313000	0.20887|0.20887	GGA|TGG		0.687	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			4	12	0	0	0	0	4	12				
WDFY1	57590	broad.mit.edu	37	2	224749380	224749380	+	Silent	SNP	C	C	G	rs140777534		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:224749380C>G	ENST00000233055.4	-	9	1020	c.918G>C	c.(916-918)acG>acC	p.T306T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	306						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTAGCCCCAGCGTCTTGGTGT	0.453																																						uc002vnq.2		NA																	0				lung(1)	1						c.(916-918)ACG>ACC		WD repeat and FYVE domain containing 1							233.0	245.0	241.0					2																	224749380		2203	4300	6503	SO:0001819	synonymous_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224749380C>G	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.918G>C	2.37:g.224749380C>G							p.T306T	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	9	969	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	306			FYVE-type.		Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	c.918G>C	CCDS33387.1																																																																																				0.453	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		57	208	0	0	0	0	57	208				
SP110	3431	broad.mit.edu	37	2	231067413	231067413	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:231067413C>T	ENST00000358662.4	-	9	1008	c.930G>A	c.(928-930)aaG>aaA	p.K310K	SP110_ENST00000338556.3_Intron|SP110_ENST00000392048.3_Silent_p.K308K|SP110_ENST00000486146.2_5'Flank|SP110_ENST00000540870.1_Silent_p.K316K|SP110_ENST00000258382.5_Silent_p.K310K|SP110_ENST00000258381.6_Silent_p.K310K	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	310					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTTTGAGCTTCTTTTGGATTC	0.458																																						uc002vqh.3		NA																	0				ovary(2)|breast(2)	4						c.(928-930)AAG>AAA		SP110 nuclear body protein isoform a							201.0	189.0	193.0					2																	231067413		2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231067413C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.930G>A	2.37:g.231067413C>T						SP110_uc002vqg.3_Silent_p.K310K|SP110_uc002vqi.3_Silent_p.K310K|SP110_uc010fxk.2_Silent_p.K308K|SP110_uc010fxj.2_Intron	p.K310K	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	9	1170	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	310					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.930G>A	CCDS2474.1																																																																																				0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		27	84	0	0	0	0	27	84				
ATRN	8455	broad.mit.edu	37	20	3543984	3543984	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr20:3543984C>T	ENST00000262919.5	+	10	1828	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	ATRN_ENST00000446916.2_Missense_Mutation_p.S587F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	587					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAATGCTTCTCTTCAGATTTC	0.428																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(1759-1761)TCT>TTT		attractin isoform 1							172.0	144.0	153.0					20																	3543984		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3543984C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1760C>T	20.37:g.3543984C>T	ENSP00000262919:p.Ser587Phe					ATRN_uc002wil.2_Missense_Mutation_p.S587F	p.S587F	NM_139321	NP_647537	O75882	ATRN_HUMAN			10	1850	+			587			Extracellular (Potential).|Kelch 5.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.1760C>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716655	0.89205	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.63255	-0.03;-0.03	5.32	5.32	0.75619	Kelch-type beta propeller (1);	0.104361	0.64402	D	0.000002	D	0.83580	0.5285	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86525	0.1818	10	0.87932	D	0	-18.284	18.7896	0.91968	0.0:1.0:0.0:0.0	.	587;587	O75882;O75882-2	ATRN_HUMAN;.	F	587;587;513	ENSP00000262919:S587F;ENSP00000416587:S587F	ENSP00000262919:S587F	S	+	2	0	ATRN	3491984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.777000	0.95525	0.591000	0.81541	TCT		0.428	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		9	163	0	0	0	0	9	163				
ZNF335	63925	broad.mit.edu	37	20	44581029	44581029	+	Silent	SNP	G	G	A	rs200727774	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr20:44581029G>A	ENST00000322927.2	-	20	3046	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C	ZNF335_ENST00000426788.1_Silent_p.C827C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	982					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGTCCCCTACGCAGTGGGTCT	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		17455	0.002		0.0	False		,,,				2504	0.0					uc002xqw.2		NA																	0				skin(3)|ovary(1)	4						c.(2944-2946)TGC>TGT		zinc finger protein 335		G		0,4406		0,0,2203	27.0	31.0	29.0		2946	-3.1	0.0	20		29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF335	NM_022095.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		982/1343	44581029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581029G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2946C>T	20.37:g.44581029G>A						ZNF335_uc002xqv.2_Silent_p.C94C|ZNF335_uc010zxk.1_Silent_p.C827C	p.C982C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			20	3069	-		Myeloproliferative disorder(115;0.0122)	982					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.2946C>T	CCDS13389.1																																																																																				0.662	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		20	39	0	0	0	0	20	39				
TSSK2	23617	broad.mit.edu	37	22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A	rs368344123		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488																																						uc002zow.2		NA																	0				stomach(1)	1						c.(133-135)CGC>CAC		testis-specific serine kinase 2							79.0	71.0	74.0					22																	19119046		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119046G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.134G>A	22.37:g.19119046G>A	ENSP00000382544:p.Arg45His					DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.R45H	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	726	+	Colorectal(54;0.0993)		45			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.134G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719159	0.68844	.	.	ENSG00000206203	ENST00000399635	T	0.66099	-0.19	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000100	T	0.69851	0.3157	L	0.37897	1.145	0.33361	D	0.57239	D	0.89917	1.0	D	0.71414	0.973	T	0.78147	-0.2317	10	0.87932	D	0	.	13.5853	0.61926	0.0:0.1561:0.8438:0.0	.	45	Q96PF2	TSSK2_HUMAN	H	45	ENSP00000382544:R45H	ENSP00000382544:R45H	R	+	2	0	TSSK2	17499046	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.484000	0.53201	2.506000	0.84524	0.563000	0.77884	CGC		0.488	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			3	31	0	0	0	0	3	31				
FGD5	152273	broad.mit.edu	37	3	14862067	14862067	+	Missense_Mutation	SNP	G	G	A	rs200418068		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:14862067G>A	ENST00000285046.5	+	1	1599	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	FGD5_ENST00000543601.1_Missense_Mutation_p.V256I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	497					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCAGAAACCGTCCCTGAAGA	0.642																																						uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1489-1491)GTC>ATC		FYVE, RhoGEF and PH domain containing 5							36.0	40.0	39.0					3																	14862067		1929	4122	6051	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862067G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1489G>A	3.37:g.14862067G>A	ENSP00000285046:p.Val497Ile					FGD5_uc011avk.1_Missense_Mutation_p.V497I	p.V497I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1599	+			497					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1489G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528855	0.64860	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	D;T	0.82984	-1.67;-1.46	4.86	4.86	0.63082	.	0.000000	0.48286	D	0.000200	D	0.90820	0.7117	M	0.74881	2.28	0.47374	D	0.9994	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.91912	0.5540	10	0.66056	D	0.02	-35.7727	18.0079	0.89214	0.0:0.0:1.0:0.0	.	256;497	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	497;256	ENSP00000285046:V497I;ENSP00000445949:V256I	ENSP00000285046:V497I	V	+	1	0	FGD5	14837071	1.000000	0.71417	0.134000	0.22075	0.035000	0.12851	9.280000	0.95786	2.254000	0.74563	0.650000	0.86243	GTC		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		5	36	0	0	0	0	5	36				
SENP7	57337	broad.mit.edu	37	3	101066766	101066766	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:101066766T>C	ENST00000394095.2	-	13	1840	c.1787A>G	c.(1786-1788)tAt>tGt	p.Y596C	SENP7_ENST00000394094.2_Missense_Mutation_p.Y531C|SENP7_ENST00000348610.3_Missense_Mutation_p.Y563C|SENP7_ENST00000314261.7_Missense_Mutation_p.Y530C|SENP7_ENST00000394091.1_Missense_Mutation_p.Y432C|SENP7_ENST00000358203.3_Missense_Mutation_p.Y432C	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	596						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCTTGAAGATAATCTGAAGA	0.338																																						uc003dut.2		NA																	0				ovary(3)|lung(2)	5						c.(1786-1788)TAT>TGT		sentrin/SUMO-specific protease 7 isoform 1							95.0	98.0	97.0					3																	101066766		2203	4299	6502	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101066766T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1787A>G	3.37:g.101066766T>C	ENSP00000377655:p.Tyr596Cys					SENP7_uc003duu.2_Missense_Mutation_p.Y531C|SENP7_uc003duv.2_Missense_Mutation_p.Y563C|SENP7_uc003duw.2_Missense_Mutation_p.Y530C|SENP7_uc003dux.2_Missense_Mutation_p.Y432C	p.Y596C	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			13	1898	-			596					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.1787A>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589020	0.46110	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.22743	1.94;1.97;1.98;1.98;1.98;1.94	5.69	5.69	0.88448	.	0.163866	0.42294	D	0.000735	T	0.36413	0.0966	L	0.34521	1.04	0.36136	D	0.846478	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.43458	-0.9390	10	0.66056	D	0.02	-3.8	14.9409	0.70992	0.0:0.0:0.0:1.0	.	432;530;563;596	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	C	596;531;530;432;432;563	ENSP00000377655:Y596C;ENSP00000377654:Y531C;ENSP00000313624:Y530C;ENSP00000377651:Y432C;ENSP00000350936:Y432C;ENSP00000342159:Y563C	ENSP00000313624:Y530C	Y	-	2	0	SENP7	102549456	1.000000	0.71417	0.994000	0.49952	0.248000	0.25809	2.840000	0.48215	2.165000	0.68154	0.528000	0.53228	TAT		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		19	71	0	0	0	0	19	71				
EPHB1	2047	broad.mit.edu	37	3	134880873	134880873	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:134880873T>G	ENST00000398015.3	+	7	1806	c.1436T>G	c.(1435-1437)tTc>tGc	p.F479C	EPHB1_ENST00000493838.1_Missense_Mutation_p.F40C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	479	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAATGAGTTCAACTCCTCC	0.547																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1435-1437)TTC>TGC		ephrin receptor EphB1 precursor							91.0	95.0	93.0					3																	134880873		2063	4216	6279	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134880873T>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1436T>G	3.37:g.134880873T>G	ENSP00000381097:p.Phe479Cys					EPHB1_uc003equ.2_Missense_Mutation_p.F40C	p.F479C	NM_004441	NP_004432	P54762	EPHB1_HUMAN			7	1656	+			479			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1436T>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644913	0.29246	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.54675	0.56;0.56	5.54	4.33	0.51752	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.287470	0.33144	N	0.005226	T	0.35508	0.0934	N	0.20685	0.6	0.38253	D	0.941675	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	10	0.39692	T	0.17	.	10.3173	0.43745	0.2022:0.0:0.0:0.7978	.	479	P54762	EPHB1_HUMAN	C	479;40	ENSP00000381097:F479C;ENSP00000419574:F40C	ENSP00000381097:F479C	F	+	2	0	EPHB1	136363563	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.321000	0.43805	2.326000	0.78906	0.533000	0.62120	TTC		0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	73	0	0	0	0	3	73				
ZIC4	84107	broad.mit.edu	37	3	147113851	147113851	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:147113851G>A	ENST00000383075.3	-	3	988	c.476C>T	c.(475-477)aCc>aTc	p.T159I	ZIC4_ENST00000473123.1_Missense_Mutation_p.T159I|ZIC4_ENST00000484399.1_Missense_Mutation_p.T159I|ZIC4_ENST00000525172.2_Missense_Mutation_p.T209I|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.T197I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	159						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGCTCCACGGTGACGTGCGT	0.612																																						uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(475-477)ACC>ATC		zinc finger protein of the cerebellum 4							95.0	105.0	102.0					3																	147113851		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113851G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.476C>T	3.37:g.147113851G>A	ENSP00000372553:p.Thr159Ile					ZIC4_uc003ewc.1_Missense_Mutation_p.T89I|ZIC4_uc011bno.1_Missense_Mutation_p.T209I	p.T159I	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	749	-			159			C2H2-type 1; atypical.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.476C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531894	0.85706	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.47455	D	0.000233	D	0.95900	0.8665	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.96;0.999	D;D	0.83275	0.914;0.996	D	0.96454	0.9336	10	0.87932	D	0	.	18.7355	0.91753	0.0:0.0:1.0:0.0	.	209;159	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	I	159;197;209;159;159;159	ENSP00000372553:T159I;ENSP00000397695:T197I;ENSP00000435509:T209I;ENSP00000417855:T159I;ENSP00000420775:T159I;ENSP00000420627:T159I	ENSP00000372553:T159I	T	-	2	0	ZIC4	148596541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.863000	0.87023	2.425000	0.82216	0.511000	0.50034	ACC		0.612	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			4	128	0	0	0	0	4	128				
NCBP2	22916	broad.mit.edu	37	3	196669371	196669371	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:196669371A>T	ENST00000321256.5	-	1	97	c.4T>A	c.(4-6)Tcg>Acg	p.S2T	NCBP2_ENST00000447325.1_5'Flank|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000422610.1_5'Flank|NCBP2_ENST00000427641.2_Missense_Mutation_p.S2T|NCBP2_ENST00000452404.2_5'Flank|NCBP2-AS2_ENST00000602845.1_lincRNA	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	2					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		AGGCCACCCGACATAGTGCAG	0.682											OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fxd.1		NA																	0					0						c.(4-6)TCG>ACG		nuclear cap binding protein subunit 2, 20kDa							29.0	28.0	29.0					3																	196669371		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196669371A>T	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.4T>A	3.37:g.196669371A>T	ENSP00000326806:p.Ser2Thr		OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2085	NCBP2_uc003fxb.1_5'Flank|NCBP2_uc011btz.1_5'Flank|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Missense_Mutation_p.S2T|NCBP2_uc003fxf.2_Missense_Mutation_p.S2T|LOC152217_uc003fxg.3_5'Flank	p.S2T	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	1	94	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		2					B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.4T>A	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.944650	0.92593	.	.	ENSG00000114503	ENST00000321256;ENST00000427641	T	0.18502	2.21	4.61	4.61	0.57282	.	0.309787	0.35235	N	0.003357	T	0.14056	0.0340	L	0.36672	1.1	0.80722	D	1	B;B;B	0.33694	0.421;0.05;0.03	B;B;B	0.29785	0.107;0.016;0.003	T	0.04650	-1.0936	10	0.59425	D	0.04	.	12.1811	0.54211	1.0:0.0:0.0:0.0	.	21;2;2	Q7Z3W9;E9PAR5;P52298	.;.;NCBP2_HUMAN	T	2	ENSP00000326806:S2T	ENSP00000326806:S2T	S	-	1	0	NCBP2	198153768	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	4.224000	0.58593	2.079000	0.62486	0.533000	0.62120	TCG		0.682	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		3	14	0	0	0	0	3	14				
NCAPG	64151	broad.mit.edu	37	4	17827167	17827167	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:17827167G>A	ENST00000251496.2	+	11	1812	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	546					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TGAAATTAAAGAAGTCCACAT	0.308																																						uc003gpp.2		NA																	0				large_intestine(1)	1						c.(1636-1638)GAA>AAA		chromosome condensation protein G							43.0	48.0	46.0					4																	17827167		2201	4291	6492	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17827167G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1636G>A	4.37:g.17827167G>A	ENSP00000251496:p.Glu546Lys					NCAPG_uc011bxj.1_Missense_Mutation_p.E55K	p.E546K	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	11	1812	+			546					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1636G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925527	0.92319	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.47177	0.85;0.85	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.73968	-0.3815	10	0.87932	D	0	-23.6095	19.5557	0.95347	0.0:0.0:1.0:0.0	.	546	Q9BPX3	CND3_HUMAN	K	546;109	ENSP00000251496:E546K;ENSP00000425625:E109K	ENSP00000251496:E546K	E	+	1	0	NCAPG	17436265	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.928000	0.87587	2.628000	0.89032	0.585000	0.79938	GAA		0.308	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		6	48	0	0	0	0	6	48				
RBM47	54502	broad.mit.edu	37	4	40440251	40440251	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:40440251C>T	ENST00000381793.2	-	3	1056	c.660G>A	c.(658-660)caG>caA	p.Q220Q	RBM47_ENST00000514014.1_Silent_p.Q182Q|RBM47_ENST00000319592.4_Silent_p.Q220Q|RBM47_ENST00000295971.7_Silent_p.Q220Q|RBM47_ENST00000381795.6_Silent_p.Q220Q|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	220	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCCCCACAGCTGGATGCGGC	0.647																																						uc003gvc.2		NA																	0				breast(3)	3						c.(658-660)CAG>CAA		RNA binding motif protein 47 isoform a							65.0	54.0	58.0					4																	40440251		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440251C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.660G>A	4.37:g.40440251C>T						RBM47_uc003gvd.2_Silent_p.Q220Q|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Q182Q|RBM47_uc003gvg.1_Silent_p.Q220Q	p.Q220Q	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1370	-			220			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.660G>A	CCDS43223.1																																																																																				0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		26	44	0	0	0	0	26	44				
TLL1	7092	broad.mit.edu	37	4	167020437	167020437	+	Missense_Mutation	SNP	G	G	A	rs376169735		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:167020437G>A	ENST00000061240.2	+	20	3312	c.2665G>A	c.(2665-2667)Gga>Aga	p.G889R	TLL1_ENST00000507499.1_Missense_Mutation_p.G912R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	889	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGAGTGTGGCGGACGATTGAA	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19030	0.0		0.0	False		,,,				2504	0.0					uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2665-2667)GGA>AGA		tolloid-like 1 precursor		G	ARG/GLY	0,4406		0,0,2203	119.0	112.0	114.0		2665	5.8	0.3	4		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLL1	NM_012464.4	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	889/1014	167020437	1,13005	2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020437G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2665G>A	4.37:g.167020437G>A	ENSP00000061240:p.Gly889Arg					TLL1_uc011cjn.1_Missense_Mutation_p.G912R|TLL1_uc011cjo.1_Missense_Mutation_p.G713R	p.G889R	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3312	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	889			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2665G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599057	0.66332	0.0	1.16E-4	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.19394	2.15;2.15	5.76	5.76	0.90799	CUB (5);	0.000000	0.85682	U	0.000000	T	0.65154	0.2664	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77542	-0.2549	10	0.66056	D	0.02	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	912;889	E9PD25;O43897	.;TLL1_HUMAN	R	889;912	ENSP00000061240:G889R;ENSP00000426082:G912R	ENSP00000061240:G889R	G	+	1	0	TLL1	167239887	1.000000	0.71417	0.304000	0.25085	0.019000	0.09904	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	GGA		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			12	48	0	0	0	0	12	48				
DNAH5	1767	broad.mit.edu	37	5	13701428	13701428	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:13701428A>T	ENST00000265104.4	-	77	13560	c.13456T>A	c.(13456-13458)Ttt>Att	p.F4486I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4486					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGGGGTTAAAAAAACCCGTC	0.423									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13456-13458)TTT>ATT		dynein, axonemal, heavy chain 5							78.0	86.0	84.0					5																	13701428		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13701428A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13456T>A	5.37:g.13701428A>T	ENSP00000265104:p.Phe4486Ile					DNAH5_uc003jfc.2_Missense_Mutation_p.F654I	p.F4486I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			77	13498	-	Lung NSC(4;0.00476)		4486					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13456T>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	35	5.416094	0.96092	.	.	ENSG00000039139	ENST00000265104	T	0.15952	2.38	5.78	5.78	0.91487	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76517	-0.2930	10	0.87932	D	0	.	16.099	0.81152	1.0:0.0:0.0:0.0	.	4486	Q8TE73	DYH5_HUMAN	I	4486	ENSP00000265104:F4486I	ENSP00000265104:F4486I	F	-	1	0	DNAH5	13754428	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.317000	0.96327	2.210000	0.71456	0.482000	0.46254	TTT		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		63	84	0	0	0	0	63	84				
LIFR	3977	broad.mit.edu	37	5	38506632	38506632	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:38506632C>T	ENST00000263409.4	-	8	1256	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	LIFR_ENST00000453190.2_Missense_Mutation_p.R365H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCTTGTAGCACGTGGGCCCAC	0.423			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(1093-1095)CGT>CAT		leukemia inhibitory factor receptor precursor							105.0	101.0	102.0					5																	38506632		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38506632C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1094G>A	5.37:g.38506632C>T	ENSP00000263409:p.Arg365His					LIFR_uc003jli.2_Missense_Mutation_p.R365H	p.R365H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			8	1426	-	all_lung(31;0.00021)		365			Fibronectin type-III 2.|Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1094G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.353	0.831365	0.16820	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58060	0.36;0.36	5.38	3.38	0.38709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.289105	0.33916	N	0.004434	T	0.46464	0.1394	M	0.71296	2.17	0.25613	N	0.986486	B	0.33198	0.401	B	0.21546	0.035	T	0.46816	-0.9164	10	0.49607	T	0.09	-8.8133	10.3874	0.44148	0.0:0.8261:0.0:0.1739	.	365	P42702	LIFR_HUMAN	H	365	ENSP00000263409:R365H;ENSP00000398368:R365H	ENSP00000263409:R365H	R	-	2	0	LIFR	38542389	0.837000	0.29446	0.177000	0.23020	0.008000	0.06430	1.725000	0.38074	1.234000	0.43709	0.650000	0.86243	CGT		0.423	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		31	51	0	0	0	0	31	51				
MAP1B	4131	broad.mit.edu	37	5	71492289	71492289	+	Missense_Mutation	SNP	C	C	T	rs145156470	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:71492289C>T	ENST00000296755.7	+	5	3405	c.3107C>T	c.(3106-3108)cCg>cTg	p.P1036L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1036					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATATGAGCCGGAAAAAATG	0.522																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3106-3108)CCG>CTG		microtubule-associated protein 1B		C	LEU/PRO	1,4405	4.2+/-10.8	0,1,2202	155.0	157.0	157.0		3107	3.8	0.4	5	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAP1B	NM_005909.3	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1036/2469	71492289	2,13004	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492289C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3107C>T	5.37:g.71492289C>T	ENSP00000296755:p.Pro1036Leu					MAP1B_uc010iyw.1_Missense_Mutation_p.P1053L|MAP1B_uc010iyx.1_Missense_Mutation_p.P910L|MAP1B_uc010iyy.1_Missense_Mutation_p.P910L	p.P1036L	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3348	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1036					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3107C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.240	-1.014115	0.02095	2.27E-4	1.16E-4	ENSG00000131711	ENST00000296755	T	0.02863	4.13	5.86	3.78	0.43462	.	0.732217	0.12957	N	0.425348	T	0.02304	0.0071	N	0.08118	0	0.23391	N	0.997773	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.45234	-0.9275	10	0.54805	T	0.06	-4.7731	13.6761	0.62454	0.0:0.8515:0.0:0.1485	.	910;1036	A2BDK6;P46821	.;MAP1B_HUMAN	L	1036	ENSP00000296755:P1036L	ENSP00000296755:P1036L	P	+	2	0	MAP1B	71528045	0.767000	0.28508	0.360000	0.25837	0.005000	0.04900	1.622000	0.36997	1.504000	0.48704	-0.126000	0.14955	CCG		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		21	49	0	0	0	0	21	49				
CHD1	1105	broad.mit.edu	37	5	98233025	98233025	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:98233025C>T	ENST00000284049.3	-	10	1515		c.e10-1			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTTTTAATACCTTTAGTAGAA	0.308																																						uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.e10-1		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						73.0	74.0	74.0					5																	98233025		2203	4300	6503	SO:0001630	splice_region_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98233025C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1366-1G>A	5.37:g.98233025C>T							p.V456_splice	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	10	1514	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)						Q17RZ3	Splice_Site	SNP	ENST00000284049.3	37	c.1366_splice	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861690	0.71949	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7487	0.96260	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD1	98260925	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.461000	0.80834	2.671000	0.90904	0.585000	0.79938	.		0.308	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	Intron	17	54	0	0	0	0	17	54				
PCDHA13	56136	broad.mit.edu	37	5	140264049	140264049	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:140264049C>T	ENST00000289272.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.C732C|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCGCGTGCGCGCCGGGCA	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2194-2196)TGC>TGT		protocadherin alpha 13 isoform 1 precursor							61.0	65.0	64.0					5																	140264049		2203	4297	6500	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140264049C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2196C>T	5.37:g.140264049C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.C732C|PCDHA13_uc003lid.2_Silent_p.C732C	p.C732C	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2196	+			732			Cytoplasmic (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.2196C>T	CCDS4240.1																																																																																				0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		28	64	0	0	0	0	28	64				
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:140553676C>T	ENST00000231137.3	+	1	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	420	Cadherin 4. {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(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1258-1260)ACC>ACT		protocadherin beta 7 precursor							142.0	128.0	133.0					5																	140553676		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553676C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1260C>T	5.37:g.140553676C>T							p.T420T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1434	+			420			Extracellular (Potential).|Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1260C>T	CCDS4249.1																																																																																				0.512	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	63	0	0	0	0	4	63				
DUSP22	56940	broad.mit.edu	37	6	348266	348266	+	Missense_Mutation	SNP	G	G	T	rs147464089	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:348266G>T	ENST00000344450.5	+	6	870	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	DUSP22_ENST00000604971.1_Missense_Mutation_p.V40F|DUSP22_ENST00000605863.1_Missense_Mutation_p.V40F|DUSP22_ENST00000605035.1_Missense_Mutation_p.V40F|DUSP22_ENST00000603453.1_Missense_Mutation_p.V40F|DUSP22_ENST00000419235.2_Missense_Mutation_p.V143F|DUSP22_ENST00000605315.1_Missense_Mutation_p.V40F	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAAGCATGAGGTCCATCAGGT	0.582																																						uc003msx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(427-429)GTC>TTC		dual specificity phosphatase 22							99.0	90.0	93.0					6																	348266		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348266G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.427G>T	6.37:g.348266G>T	ENSP00000345281:p.Val143Phe					DUSP22_uc011dhn.1_Missense_Mutation_p.V143F|DUSP22_uc003msy.1_Missense_Mutation_p.V100F	p.V143F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	866	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	143					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.427G>T	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.326615|4.326615	0.81690|0.81690	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000419235|ENST00000344450	.|T	.|0.04454	.|3.62	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Dual specificity phosphatase, subgroup, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.76494	.|0.995;0.999;0.996	.|P;D;P	.|0.65573	.|0.881;0.936;0.793	T|T	0.01432|0.01432	-1.1356|-1.1356	5|10	.|0.45353	.|T	.|0.12	.|.	20.0852|20.0852	0.97797|0.97797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143;100;143	.|Q9NRW4-2;B3KSA8;Q9NRW4	.|.;.;DUS22_HUMAN	V|F	80|143	.|ENSP00000345281:V143F	.|ENSP00000345281:V143F	G|V	+|+	2|1	0|0	DUSP22|DUSP22	293266|293266	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.931000|0.931000	0.56810|0.56810	4.798000|4.798000	0.62510|0.62510	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.582	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		4	46	1	0	2.56e-06	2.91e-06	4	46				
SLC26A8	116369	broad.mit.edu	37	6	35919019	35919019	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:35919019C>A	ENST00000490799.1	-	19	2746	c.2393G>T	c.(2392-2394)aGg>aTg	p.R798M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R798M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R693M	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TATGACCTTCCTTGACAAGGC	0.493																																						uc003olm.2		NA																	0				ovary(2)	2						c.(2392-2394)AGG>ATG		solute carrier family 26, member 8 isoform a							126.0	109.0	115.0					6																	35919019		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35919019C>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2393G>T	6.37:g.35919019C>A	ENSP00000417638:p.Arg798Met					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.R380M|SLC26A8_uc003oln.2_Missense_Mutation_p.R798M|SLC26A8_uc003oll.2_Missense_Mutation_p.R693M	p.R798M	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			19	2504	-			798			Interaction with RACGAP1.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.2393G>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076327	0.36662	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95690	-3.44;-3.78;-3.44	5.75	3.66	0.41972	.	0.083105	0.52532	D	0.000078	D	0.93080	0.7797	L	0.34521	1.04	0.22050	N	0.999391	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.69479	0.921;0.927;0.964	D	0.87418	0.2380	10	0.72032	D	0.01	.	8.8785	0.35360	0.0:0.8034:0.0:0.1966	.	798;693;380	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	M	798;693;798	ENSP00000417638:R798M;ENSP00000378100:R693M;ENSP00000347778:R798M	ENSP00000347778:R798M	R	-	2	0	SLC26A8	36026997	0.966000	0.33281	0.959000	0.39883	0.110000	0.19582	0.744000	0.26245	1.430000	0.47334	-0.136000	0.14681	AGG		0.493	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			15	43	1	0	4.15e-12	4.86e-12	15	43				
RSPO3	84870	broad.mit.edu	37	6	127476478	127476478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:127476478C>T	ENST00000356698.4	+	4	1118	c.529C>T	c.(529-531)Cga>Tga	p.R177*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.R177*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	177	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AACACGGGTCCGAGAAATAAT	0.463																																						uc003qar.2		NA																	0					0						c.(529-531)CGA>TGA		R-spondin 3 precursor							159.0	148.0	152.0					6																	127476478		2203	4300	6503	SO:0001587	stop_gained	84870					extracellular region	heparin binding	g.chr6:127476478C>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.529C>T	6.37:g.127476478C>T	ENSP00000349131:p.Arg177*					RSPO3_uc003qas.1_Nonsense_Mutation_p.R177*	p.R177*	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	4	819	+			177			TSP type-1.		B2RC27|Q5VTV4|Q96K87	Nonsense_Mutation	SNP	ENST00000356698.4	37	c.529C>T	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424929	0.83667	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	.	.	.	5.7	1.27	0.21489	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.0796	14.9953	0.71428	0.6047:0.3952:0.0:0.0	.	.	.	.	X	177	.	ENSP00000349131:R177X	R	+	1	2	RSPO3	127518171	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.777000	0.38604	0.297000	0.22615	-0.321000	0.08615	CGA		0.463	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		28	58	0	0	0	0	28	58				
ACTB	60	broad.mit.edu	37	7	5567491	5567491	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr7:5567491A>G	ENST00000331789.5	-	6	1207	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	339					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCCGATCCACACGGAGTACTT	0.622																																						uc003sos.3		NA																	0					0						c.(1015-1017)GTG>GCG		beta actin							82.0	83.0	83.0					7																	5567491		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567491A>G	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1016T>C	7.37:g.5567491A>G	ENSP00000349960:p.Val339Ala					ACTB_uc003sor.3_Missense_Mutation_p.V217A|ACTB_uc003sot.3_Missense_Mutation_p.V339A|ACTB_uc003soq.3_Missense_Mutation_p.V217A|ACTB_uc010ksy.2_Missense_Mutation_p.V217A	p.V339A	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1052	-		Ovarian(82;0.0606)	339					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1016T>C	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469966	0.43839	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.93076	-3.16	5.55	5.55	0.83447	.	0.000000	0.52532	D	0.000073	D	0.95746	0.8616	L	0.46614	1.455	0.48901	D	0.999725	P	0.36249	0.545	D	0.64410	0.925	D	0.96004	0.8996	10	0.87932	D	0	.	14.9227	0.70851	1.0:0.0:0.0:0.0	.	339	P60709	ACTB_HUMAN	A	339;315;311;258	ENSP00000349960:V339A	ENSP00000440549:V258A	V	-	2	0	ACTB	5534017	1.000000	0.71417	0.985000	0.45067	0.362000	0.29581	8.991000	0.93514	2.114000	0.64651	0.529000	0.55759	GTG		0.622	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		9	36	0	0	0	0	9	36				
SAMD9L	219285	broad.mit.edu	37	7	92762359	92762359	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr7:92762359C>T	ENST00000318238.4	-	5	4142	c.2926G>A	c.(2926-2928)Gtt>Att	p.V976I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V976I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V976I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	976					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCTGCAACTTCTGTTTTT	0.383																																						uc003umh.1		NA																	0				ovary(4)	4						c.(2926-2928)GTT>ATT		sterile alpha motif domain containing 9-like							89.0	84.0	86.0					7																	92762359		2202	4300	6502	SO:0001583	missense	219285							g.chr7:92762359C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2926G>A	7.37:g.92762359C>T	ENSP00000326247:p.Val976Ile					SAMD9L_uc003umj.1_Missense_Mutation_p.V976I|SAMD9L_uc003umi.1_Missense_Mutation_p.V976I|SAMD9L_uc010lfb.1_Missense_Mutation_p.V976I|SAMD9L_uc003umk.1_Missense_Mutation_p.V976I|SAMD9L_uc010lfc.1_Missense_Mutation_p.V976I|SAMD9L_uc010lfd.1_Missense_Mutation_p.V976I|SAMD9L_uc011khx.1_Intron	p.V976I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4142	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		976					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2926G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	9.501	1.103101	0.20632	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24538	1.85;1.85;1.85	5.22	4.34	0.51931	.	0.264971	0.29073	N	0.013238	T	0.24509	0.0594	L	0.54323	1.7	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.13335	-1.0513	10	0.31617	T	0.26	-9.6847	11.0106	0.47661	0.0:0.845:0.0:0.155	.	976	Q8IVG5	SAM9L_HUMAN	I	976	ENSP00000326247:V976I;ENSP00000405760:V976I;ENSP00000408796:V976I	ENSP00000326247:V976I	V	-	1	0	SAMD9L	92600295	0.060000	0.20803	0.714000	0.30535	0.024000	0.10985	1.076000	0.30729	1.423000	0.47198	0.467000	0.42956	GTT		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		18	47	0	0	0	0	18	47				
TUSC3	7991	broad.mit.edu	37	8	15601052	15601052	+	Missense_Mutation	SNP	G	G	A	rs367660078		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:15601052G>A	ENST00000503731.1	+	8	1016	c.868G>A	c.(868-870)Gct>Act	p.A290T	TUSC3_ENST00000382020.4_Missense_Mutation_p.A290T|TUSC3_ENST00000506802.1_Missense_Mutation_p.A290T	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	290					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A290T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGCAGATGCCGCTATCACCAT	0.393																																						uc003wwt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(868-870)GCT>ACT		tumor suppressor candidate 3 isoform a							171.0	184.0	179.0					8																	15601052		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15601052G>A	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.868G>A	8.37:g.15601052G>A	ENSP00000424544:p.Ala290Thr					TUSC3_uc003wwu.2_Missense_Mutation_p.A290T|TUSC3_uc003wwv.2_Missense_Mutation_p.A290T|TUSC3_uc003www.2_Missense_Mutation_p.A290T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.P268P	p.A290T	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	8	1078	+			290			Helical; (Potential).		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.868G>A	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942364	0.92526	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000503731	T;T;T	0.75938	-0.98;-0.98;-0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84410	0.5466	M	0.65975	2.015	0.58432	D	0.999999	B;D;P	0.76494	0.382;0.999;0.806	B;D;B	0.76575	0.153;0.988;0.148	T	0.79715	-0.1687	10	0.20519	T	0.43	-14.8189	18.8674	0.92298	0.0:0.0:1.0:0.0	.	290;290;290	D6RIY7;Q13454-2;Q13454	.;.;TUSC3_HUMAN	T	290	ENSP00000371450:A290T;ENSP00000425777:A290T;ENSP00000424544:A290T	ENSP00000221167:A290T	A	+	1	0	TUSC3	15645423	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.404000	0.97306	2.784000	0.95788	0.585000	0.79938	GCT		0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		45	46	0	0	0	0	45	46				
RP1	6101	broad.mit.edu	37	8	55539978	55539978	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:55539978T>C	ENST00000220676.1	+	4	3684	c.3536T>C	c.(3535-3537)tTg>tCg	p.L1179S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1179					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGATGACTTGAAAGCTGCT	0.408																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3535-3537)TTG>TCG		retinitis pigmentosa RP1 protein							118.0	116.0	117.0					8																	55539978		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539978T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3536T>C	8.37:g.55539978T>C	ENSP00000220676:p.Leu1179Ser					RP1_uc011ldy.1_Intron	p.L1179S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3684	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1179						Missense_Mutation	SNP	ENST00000220676.1	37	c.3536T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066325	0.76187	.	.	ENSG00000104237	ENST00000220676	T	0.57595	0.39	5.79	5.79	0.91817	.	0.000000	0.45361	D	0.000370	T	0.71500	0.3347	M	0.68952	2.095	0.39800	D	0.972551	D	0.89917	1.0	D	0.91635	0.999	T	0.75852	-0.3171	10	0.87932	D	0	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1179	P56715	RP1_HUMAN	S	1179	ENSP00000220676:L1179S	ENSP00000220676:L1179S	L	+	2	0	RP1	55702531	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.136000	0.71703	2.209000	0.71365	0.533000	0.62120	TTG		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		3	176	0	0	0	0	3	176				
ZFHX4	79776	broad.mit.edu	37	8	77775641	77775641	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:77775641A>G	ENST00000521891.2	+	11	10139	c.9691A>G	c.(9691-9693)Aaa>Gaa	p.K3231E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K3205E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K3182E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K3186E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGTTGGGCAAAGTTGTAGG	0.438										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9556-9558)AAA>GAA		zinc finger homeodomain 4							155.0	147.0	150.0					8																	77775641		1880	4120	6000	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775641A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9691A>G	8.37:g.77775641A>G	ENSP00000430497:p.Lys3231Glu	HNSCC(33;0.089)					p.K3186E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9943	+			3182					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9556A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.033429	0.35893	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.71	4.71	0.59529	.	0.000000	0.45126	U	0.000383	T	0.48624	0.1510	L	0.57536	1.79	0.48830	D	0.999712	D	0.56521	0.976	P	0.49085	0.6	T	0.45848	-0.9233	10	0.08599	T	0.76	.	14.6411	0.68726	1.0:0.0:0.0:0.0	.	3186	Q86UP3-4	.	E	3231;3215;3186;3182;3205	ENSP00000430497:K3231E;ENSP00000399605:K3186E;ENSP00000050961:K3182E;ENSP00000430848:K3205E	ENSP00000050961:K3182E	K	+	1	0	ZFHX4	77938196	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.282000	0.78630	2.103000	0.63969	0.459000	0.35465	AAA		0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	144	0	0	0	0	13	144				
RALYL	138046	broad.mit.edu	37	8	85799858	85799858	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:85799858G>A	ENST00000521268.1	+	8	1810	c.705G>A	c.(703-705)ttG>ttA	p.L235L	RALYL_ENST00000521695.1_Silent_p.L235L|RALYL_ENST00000518566.1_Silent_p.L224L|RALYL_ENST00000517638.1_Silent_p.L248L|RALYL_ENST00000522455.1_Silent_p.L235L|RALYL_ENST00000523850.1_Silent_p.L162L|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	235							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGAAGCAATTGGAAGAGAGTC	0.488																																						uc003ycq.3		NA																	0				ovary(1)	1						c.(703-705)TTG>TTA		RALY RNA binding protein-like isoform 2							108.0	105.0	106.0					8																	85799858		1911	4125	6036	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799858G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.705G>A	8.37:g.85799858G>A						RALYL_uc003ycr.3_Silent_p.L235L|RALYL_uc003ycs.3_Silent_p.L235L|RALYL_uc010lzy.2_Silent_p.L224L|RALYL_uc003yct.3_Silent_p.L248L|RALYL_uc003ycu.3_Silent_p.L162L|RALYL_uc003ycv.3_Intron	p.L235L	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			9	1121	+			235			Potential.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.705G>A	CCDS55253.1																																																																																				0.488	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			10	108	0	0	0	0	10	108				
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	rs372115638		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I																													uc003yxi.2		NA																	0				ovary(3)	3	GRCh37	HM972176	CYP11B1	M		c.(1021-1023)CGC>TGC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78.0	80.0	79.0		1021,1021	2.2	1.0	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957228G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1021C>T	8.37:g.143957228G>A	ENSP00000292427:p.Arg341Cys					CYP11B1_uc010mex.2_Missense_Mutation_p.R17C|CYP11B1_uc003yxh.2_Missense_Mutation_p.R57C|CYP11B1_uc003yxj.2_Missense_Mutation_p.R341C|CYP11B1_uc010mey.2_Missense_Mutation_p.R412C	p.R341C	NM_000497	NP_000488	P15538	C11B1_HUMAN			6	1028	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		341					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1021C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			93	81	0	0	0	0	93	81				
MROH6	642475	broad.mit.edu	37	8	144657851	144657851	+	5'Flank	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:144657851C>T	ENST00000398882.3	-	0	0				NAPRT1_ENST00000276844.7_Missense_Mutation_p.G377S|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Missense_Mutation_p.G377S|NAPRT1_ENST00000435154.3_Missense_Mutation_p.G377S|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000449291.2_Missense_Mutation_p.G377S	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		GTGCCAATGCCAATGACATTC	0.667																																						uc003yym.3		NA																	0				ovary(1)	1						c.(1129-1131)GGC>AGC		nicotinate phosphoribosyltransferase domain							24.0	24.0	24.0					8																	144657851		2196	4293	6489	SO:0001631	upstream_gene_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144657851C>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657851C>T	Exception_encountered					C8orf73_uc010mff.2_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyn.3_Missense_Mutation_p.G377S|NAPRT1_uc011lkh.1_Missense_Mutation_p.G377S|NAPRT1_uc003yyo.3_Missense_Mutation_p.G377S	p.G377S	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		9	1154	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		377					A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1129G>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482433	0.96307	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.74315	-0.67;-0.75;-0.82;-0.83;-0.71	4.98	4.98	0.66077	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	H	0.97415	4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.94400	0.7622	10	0.87932	D	0	-25.4506	16.7933	0.85595	0.0:1.0:0.0:0.0	.	377;377;377;377	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	S	377	ENSP00000405670:G377S;ENSP00000401508:G377S;ENSP00000341136:G377S;ENSP00000390949:G377S;ENSP00000276844:G377S	ENSP00000276844:G377S	G	-	1	0	NAPRT1	144728994	0.819000	0.29175	0.982000	0.44146	0.996000	0.88848	3.095000	0.50235	2.298000	0.77334	0.655000	0.94253	GGC		0.667	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		5	7	0	0	0	0	5	7				
AGTPBP1	23287	broad.mit.edu	37	9	88203249	88203249	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:88203249A>C	ENST00000357081.3	-	21	3011	c.2867T>G	c.(2866-2868)gTc>gGc	p.V956G	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V916G|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V968G			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	956					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TAACATAGGGACAATTTTAAA	0.348																																						uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2866-2868)GTC>GGC		ATP/GTP binding protein 1							76.0	73.0	74.0					9																	88203249		2202	4300	6502	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88203249A>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2867T>G	9.37:g.88203249A>C	ENSP00000349592:p.Val956Gly					AGTPBP1_uc004aod.3_Missense_Mutation_p.V582G|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.V916G|AGTPBP1_uc011lte.1_Missense_Mutation_p.V968G	p.V956G	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			20	2900	-			956					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2867T>G		.	.	.	.	.	.	.	.	.	.	A	22.3	4.272417	0.80580	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.14766	2.48;2.48;2.48	6.06	6.06	0.98353	Peptidase M14, carboxypeptidase A (1);	0.185485	0.47455	D	0.000225	T	0.45776	0.1359	M	0.92507	3.315	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.996	P;P;P	0.61658	0.892;0.88;0.886	T	0.58624	-0.7604	10	0.87932	D	0	-8.5482	16.6093	0.84858	1.0:0.0:0.0:0.0	.	968;956;916	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	G	956;916;968	ENSP00000349592:V956G;ENSP00000365251:V916G;ENSP00000365277:V968G	ENSP00000349592:V956G	V	-	2	0	AGTPBP1	87393069	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.226000	0.95229	2.324000	0.78689	0.533000	0.62120	GTC		0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		13	30	0	0	0	0	13	30				
OMD	4958	broad.mit.edu	37	9	95177520	95177520	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:95177520C>T	ENST00000375550.4	-	3	1455	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	394	Asp/Glu-rich (acidic).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCAGGATCATCGTGATCTTCA	0.368			T	USP6	aneurysmal bone cysts																																	uc004asd.3		NA		Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				ovary(2)	2						c.(1180-1182)GAT>AAT		osteomodulin precursor							204.0	183.0	190.0					9																	95177520		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95177520C>T	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1180G>A	9.37:g.95177520C>T	ENSP00000364700:p.Asp394Asn					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	p.D394N	NM_005014	NP_005005	Q99983	OMD_HUMAN			3	1549	-			394			Asp/Glu-rich (acidic).		Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.1180G>A	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447318	0.43429	.	.	ENSG00000127083	ENST00000375550	T	0.38077	1.16	5.44	1.46	0.22682	.	0.444160	0.21040	N	0.081199	T	0.26629	0.0651	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20405	-1.0276	10	0.19590	T	0.45	-5.9009	7.1507	0.25608	0.0:0.6688:0.1245:0.2067	.	394	Q99983	OMD_HUMAN	N	394	ENSP00000364700:D394N	ENSP00000364700:D394N	D	-	1	0	OMD	94217341	0.024000	0.19004	0.000000	0.03702	0.319000	0.28217	0.778000	0.26732	0.343000	0.23821	0.555000	0.69702	GAT		0.368	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		26	38	0	0	0	0	26	38				
BSPRY	54836	broad.mit.edu	37	9	116132021	116132021	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:116132021G>A	ENST00000374183.4	+	6	847	c.808G>A	c.(808-810)Gac>Aac	p.D270N	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	270	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GGAGCGCTTCGACCACTGGCC	0.577																																						uc004bhg.3		NA																	0				breast(1)	1						c.(808-810)GAC>AAC		B-box and SPRY domain containing							55.0	59.0	58.0					9																	116132021		2054	4195	6249	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116132021G>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.808G>A	9.37:g.116132021G>A	ENSP00000363298:p.Asp270Asn					BSPRY_uc010muw.2_3'UTR	p.D270N	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			6	856	+			270			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.808G>A	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882396	0.91740	.	.	ENSG00000119411	ENST00000374183	T	0.15952	2.38	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.044001	0.85682	D	0.000000	T	0.22282	0.0537	M	0.66506	2.035	0.51482	D	0.999927	P	0.48589	0.912	B	0.42959	0.403	T	0.00893	-1.1524	10	0.44086	T	0.13	-2.6943	12.3382	0.55079	0.0765:0.0:0.9235:0.0	.	270	Q5W0U4	BSPRY_HUMAN	N	270	ENSP00000363298:D270N	ENSP00000363298:D270N	D	+	1	0	BSPRY	115171842	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.167000	0.71902	2.735000	0.93741	0.561000	0.74099	GAC		0.577	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		15	51	0	0	0	0	15	51				
SEC16A	9919	broad.mit.edu	37	9	139371059	139371059	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:139371059G>A	ENST00000371706.3	-	1	508	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	SEC16A_ENST00000290037.6_Missense_Mutation_p.L159F|SEC16A_ENST00000313050.7_Missense_Mutation_p.L337F|SEC16A_ENST00000431893.2_Missense_Mutation_p.L159F			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	159					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCCGGGCGAGGGGGTTCACA	0.617																																						uc004chx.2		NA																	0					0						c.(1009-1011)CTC>TTC		SEC16 homolog A							25.0	28.0	27.0					9																	139371059		1869	4097	5966	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371059G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.475C>T	9.37:g.139371059G>A	ENSP00000360771:p.Leu159Phe					SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.L337F|SEC16A_uc010nbn.2_Missense_Mutation_p.L337F|SEC16A_uc010nbo.1_Missense_Mutation_p.L337F	p.L337F	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	1318	-		Myeloproliferative disorder(178;0.0511)	159					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1009C>T		.	.	.	.	.	.	.	.	.	.	G	10.69	1.420794	0.25639	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.25085	1.82;1.83;1.83;1.83	5.04	-1.64	0.08318	.	1.005220	0.08006	N	0.989580	T	0.14614	0.0353	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.14023	0.004;0.01;0.01	T	0.35475	-0.9787	10	0.20519	T	0.43	-3.0785	0.7002	0.00906	0.3666:0.1115:0.2703:0.2516	.	337;159;159	F1T0I1;O15027-5;O15027-4	.;.;.	F	337;159;159;159	ENSP00000325827:L337F;ENSP00000360771:L159F;ENSP00000290037:L159F;ENSP00000387583:L159F	ENSP00000290037:L159F	L	-	1	0	SEC16A	138490880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.123000	0.10611	0.003000	0.14656	-0.136000	0.14681	CTC		0.617	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		7	39	0	0	0	0	7	39				
SUV39H1	6839	broad.mit.edu	37	X	48558589	48558589	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:48558589G>A	ENST00000376687.3	+	3	463	c.273G>A	c.(271-273)aaG>aaA	p.K91K	SUV39H1_ENST00000337852.6_Silent_p.K102K|SUV39H1_ENST00000453214.2_Missense_Mutation_p.G29R|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	91	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTTCCACAAGGACTTAGAAA	0.567																																						uc004dkn.2		NA																	0					0						c.(271-273)AAG>AAA		suppressor of variegation 3-9 homolog 1							29.0	22.0	24.0					X																	48558589		2200	4297	6497	SO:0001819	synonymous_variant	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558589G>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.273G>A	X.37:g.48558589G>A						SUV39H1_uc011mmf.1_Silent_p.K102K|SUV39H1_uc011mmg.1_RNA	p.K91K	NM_003173	NP_003164	O43463	SUV91_HUMAN			3	318	+			91			Chromo.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	c.273G>A	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533592	0.45073	.	.	ENSG00000101945	ENST00000448548;ENST00000453214	.	.	.	4.82	3.74	0.42951	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.27120	N	0.962163	.	.	.	.	.	.	T	0.15009	-1.0452	5	0.18276	T	0.48	.	10.212	0.43147	0.1234:0.0:0.8766:0.0	.	.	.	.	R	91;29	.	ENSP00000410043:G91R	G	+	1	0	SUV39H1	48443533	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.401000	0.34589	1.972000	0.57404	0.502000	0.49764	GGA		0.567	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		3	9	0	0	0	0	3	9				
ZNF711	7552	broad.mit.edu	37	X	84523345	84523345	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:84523345C>T	ENST00000373165.3	+	7	1268	c.962C>T	c.(961-963)tCa>tTa	p.S321L	ZNF711_ENST00000542798.1_Missense_Mutation_p.S163L|ZNF711_ENST00000276123.3_Missense_Mutation_p.S321L|ZNF711_ENST00000395402.1_Intron|ZNF711_ENST00000360700.4_Missense_Mutation_p.S367L	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	321					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTCAAGCATCAGGTAAGAGA	0.303																																						uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(961-963)TCA>TTA		zinc finger protein 711							171.0	166.0	168.0					X																	84523345		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84523345C>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.962C>T	X.37:g.84523345C>T	ENSP00000362260:p.Ser321Leu					ZNF711_uc004eep.2_Missense_Mutation_p.S321L|ZNF711_uc004eeq.2_Missense_Mutation_p.S367L|ZNF711_uc011mqy.1_5'UTR	p.S321L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			7	1309	+			321					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.962C>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	C	8.361	0.833209	0.16820	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T	0.56444	0.46;0.46;3.27;3.23	4.86	4.86	0.63082	Transcriptional activator, Zfx / Zfy domain (1);	.	.	.	.	T	0.40862	0.1134	N	0.22421	0.69	0.31386	N	0.678408	B;B	0.19200	0.034;0.001	B;B	0.15484	0.013;0.002	T	0.40997	-0.9533	9	0.32370	T	0.25	1.5882	15.4167	0.74974	0.0:1.0:0.0:0.0	.	367;321	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	L	321;321;367;163	ENSP00000362260:S321L;ENSP00000276123:S321L;ENSP00000353922:S367L;ENSP00000442071:S163L	ENSP00000276123:S321L	S	+	2	0	ZNF711	84410001	1.000000	0.71417	0.995000	0.50966	0.303000	0.27691	3.821000	0.55700	1.993000	0.58246	0.513000	0.50165	TCA		0.303	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		14	26	0	0	0	0	14	26				
ZBTB33	10009	broad.mit.edu	37	X	119388776	119388776	+	Silent	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:119388776A>G	ENST00000326624.2	+	2	1734	c.1506A>G	c.(1504-1506)tcA>tcG	p.S502S	ZBTB33_ENST00000557385.1_Silent_p.S502S	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	502	Interaction with CTNND1. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCAAAAGGTCATATGTCTGTC	0.383																																						uc004esn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1504-1506)TCA>TCG		kaiso							100.0	97.0	98.0					X																	119388776		2203	4300	6503	SO:0001819	synonymous_variant	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388776A>G	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1506A>G	X.37:g.119388776A>G						ZBTB33_uc010nqm.1_Silent_p.S502S	p.S502S	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	1734	+			502			Interaction with CTNND1 (By similarity).|C2H2-type 1.		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Silent	SNP	ENST00000326624.2	37	c.1506A>G	CCDS14596.1																																																																																				0.383	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		12	115	0	0	0	0	12	115				
STK26	51765	broad.mit.edu	37	X	131205199	131205199	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:131205199G>A	ENST00000354719.6	+	8	1102	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MST4_ENST00000496850.1_Missense_Mutation_p.A234T|MST4_ENST00000481105.1_Missense_Mutation_p.A318T|MST4_ENST00000394335.2_Missense_Mutation_p.A219T|MST4_ENST00000394334.2_Missense_Mutation_p.A296T																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GAGATGGAAGGCAGAAGGACA	0.328																																						uc004ewk.1		NA																	0				ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(886-888)GCA>ACA		serine/threonine protein kinase MST4 isoform 1							133.0	131.0	131.0					X																	131205199		2203	4300	6503	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131205199G>A																												ENST00000354719.6:c.886G>A	X.37:g.131205199G>A	ENSP00000346755:p.Ala296Thr					MST4_uc004ewl.1_Missense_Mutation_p.A219T|MST4_uc011mux.1_Missense_Mutation_p.A318T|MST4_uc010nrj.1_Missense_Mutation_p.A296T|MST4_uc004ewm.1_Missense_Mutation_p.A234T	p.A296T	NM_016542	NP_057626	Q9P289	MST4_HUMAN			8	1187	+	Acute lymphoblastic leukemia(192;0.000127)		296						Missense_Mutation	SNP	ENST00000354719.6	37	c.886G>A		.	.	.	.	.	.	.	.	.	.	G	19.25	3.791184	0.70452	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.99	5.99	0.97316	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000008	T	0.40862	0.1134	M	0.65498	2.005	0.49130	D	0.999757	B;B;P;B;B	0.44946	0.054;0.006;0.846;0.029;0.013	B;B;P;B;B	0.47786	0.039;0.008;0.557;0.04;0.019	T	0.12142	-1.0559	10	0.48119	T	0.1	.	19.4045	0.94643	0.0:0.0:1.0:0.0	.	318;296;234;219;296	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	T	296;318;296;219;234	ENSP00000377867:A296T;ENSP00000418753:A318T;ENSP00000346755:A296T;ENSP00000377868:A219T;ENSP00000419702:A234T	ENSP00000346755:A296T	A	+	1	0	AL109749.1	131032880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.536000	0.85505	0.600000	0.82982	GCA		0.328	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			35	97	0	0	0	0	35	97				
FGF13	2258	broad.mit.edu	37	X	137791006	137791006	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:137791006C>T	ENST00000315930.6	-	2	933	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FGF13_ENST00000541469.1_Missense_Mutation_p.G45D|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000305414.4_Missense_Mutation_p.G38D|FGF13_ENST00000370603.3_Missense_Mutation_p.G101D|FGF13_ENST00000441825.2_Missense_Mutation_p.G72D	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	91	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTGGTGCCATCAATGGT	0.393																																						uc004fam.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(271-273)GGC>GAC		fibroblast growth factor 13 isoform 1							196.0	172.0	180.0					X																	137791006		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137791006C>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.272G>A	X.37:g.137791006C>T	ENSP00000322390:p.Gly91Asp					FGF13_uc004fan.2_Missense_Mutation_p.G38D|FGF13_uc011mwi.1_Missense_Mutation_p.G72D|FGF13_uc004faq.2_Missense_Mutation_p.G101D|FGF13_uc004far.2_Missense_Mutation_p.G72D|FGF13_uc011mwj.1_Missense_Mutation_p.G101D|FGF13_uc011mwk.1_Missense_Mutation_p.G45D	p.G91D	NM_004114	NP_004105	Q92913	FGF13_HUMAN			2	934	-	Acute lymphoblastic leukemia(192;0.000127)		91					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.272G>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835263	0.91117	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.1	5.1	0.69264	.	0.047235	0.85682	D	0.000000	D	0.92169	0.7517	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.994;0.999	D	0.94896	0.8052	10	0.87932	D	0	.	16.5946	0.84792	0.0:1.0:0.0:0.0	.	45;101;38;91	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	D	91;38;72;101;45;101;107	ENSP00000322390:G91D;ENSP00000303391:G38D;ENSP00000409276:G72D;ENSP00000359635:G101D;ENSP00000437903:G45D;ENSP00000396198:G101D;ENSP00000406916:G107D	ENSP00000303391:G38D	G	-	2	0	FGF13	137618672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.120000	0.65058	0.513000	0.50165	GGC		0.393	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		38	167	0	0	0	0	38	167				
PLXNA3	55558	broad.mit.edu	37	X	153696765	153696765	+	Silent	SNP	C	C	T	rs140160422	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:153696765C>T	ENST00000369682.3	+	23	4258	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1361					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCGCGACCGCGGCACCGTGG	0.667													C|||	3	0.000794702	0.0	0.0	3775	,	,		11467	0.0		0.003	False		,,,				2504	0.0					uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4081-4083)CGC>CGT		plexin A3 precursor		C		0,3829		0,0,0,1629,571	31.0	30.0	30.0		4083	-10.1	0.6	X	dbSNP_134	30	11,6712		0,8,3,2419,1866	no	coding-synonymous	PLXNA3	NM_017514.3		0,8,3,4048,2437	TT,TC,T,CC,C		0.1636,0.0,0.1042		1361/1872	153696765	11,10541	2200	4296	6496	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696765C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4083C>T	X.37:g.153696765C>T							p.R1361R	NM_017514	NP_059984	P51805	PLXA3_HUMAN			23	4256	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1361			Cytoplasmic (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.4083C>T	CCDS14752.1																																																																																				0.667	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		9	24	0	0	0	0	9	24				
CDKN2A	1029	broad.mit.edu	37	9	21971045	21971059	+	In_Frame_Del	DEL	CCAGCCGCGCCCCGG	CCAGCCGCGCCCCGG	-	rs137854598|rs143282362|rs35741010|rs104894094		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:21971045_21971059delCCAGCCGCGCCCCGG	ENST00000304494.5	-	2	569_583	c.299_313delCCGGGGCGCGGCTGG	c.(298-315)gccggggcgcggctggac>gac	p.AGARL100del	CDKN2A_ENST00000498628.2_In_Frame_Del_p.AGARL49del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.AGARL49del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.AGARL100del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.155_160GRGAAG>G|CDKN2A_ENST00000446177.1_In_Frame_Del_p.AGARL100del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.AGARL100del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.AGARL49del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.AGARL49del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.114_119GRGAAG>G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_In_Frame_Del_p.114_119GRGAAG>G|CDKN2A_ENST00000479692.2_In_Frame_Del_p.AGARL49del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	100			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> P.		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.?(44)|p.G101G(3)|p.A102V(3)|p.L104fs*42(2)|p.D105fs*41(2)|p.A102A(2)|p.A102E(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.0(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.D105N(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(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)		TCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAG	0.758		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1389	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(11)|Deletion - Frameshift(9)|Substitution - coding silent(6)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.0?(1112)|p.?(13)|p.G101G(3)|p.A100S(3)|p.A102V(3)|p.L104fs*42(2)|p.D105fs*41(2)|p.A102A(2)|p.A102E(2)|p.A100P(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.D105N(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(169)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(56)|oesophagus(55)|pleura(51)|ovary(37)|kidney(32)|breast(32)|pancreas(31)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(10)|liver(8)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(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	CD062128|CD982535|CI044189|CM043784|CM056559|CM940230	CDKN2A|p14arf	D|I|M	rs104894094|rs143282362|rs35741010	c.(298-315)GCCGGGGCGCGGCTGGAC>GAC		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001651	inframe_deletion	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.chr9:21971045_21971059delCCAGCCGCGCCCCGG	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.299_313delCCGGGGCGCGGCTGG	9.37:g.21971045_21971059delCCAGCCGCGCCCCGG	ENSP00000307101:p.Ala100_Leu104del	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_In_Frame_Del_p.155_160GRGAAG>G	p.AGARL100del	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	511_525	-		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)	100_104		Missing.	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.299_313delCCGGGGCGCGGCTGG	CCDS6510.1																																																																																				0.758	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	30	NA	NA	NA	NA	21	30	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:53562382_53562384delCTT	ENST00000342160.3	-	80	13067_13069	c.12610_12612delAAG	c.(12610-12612)aagdel	p.K4204del	HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4204	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACATACTCCTTCTTATTCTCC	0.438																																						uc004dsp.2		NA																	1	Deletion - In frame(1)	p.K4094del(1)	large_intestine(1)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(12610-12612)AAGdel		HECT, UBA and WWE domain containing 1																																				SO:0001651	inframe_deletion	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53562382_53562384delCTT	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12610_12612delAAG	X.37:g.53562385_53562387delCTT	ENSP00000340648:p.Lys4204del					HUWE1_uc004dsn.2_In_Frame_Del_p.K3012del	p.K4204del	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			81	13012_13014	-			4204			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	c.12610_12612delAAG	CCDS35301.1																																																																																				0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		19	61	NA	NA	NA	NA	19	61	---	---	---	---
