#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
APOB	338	broad.mit.edu	37	2	21228981	21228981	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:21228981C>T	ENST00000233242.1	-	26	10886	c.10759G>A	c.(10759-10761)Gcc>Acc	p.A3587T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3587					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGGGTGGCTTTGCTTGTA	0.502																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10759-10761)Gcc>Acc		apolipoprotein B	Atorvastatin(DB01076)						86.0	79.0	81.0					2																	21228981		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228981C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10759G>A	2.37:g.21228981C>T	ENSP00000233242:p.Ala3587Thr						p.A3587T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10886	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3587					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10759G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882415	0.72294	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.71222	-0.55	5.75	4.88	0.63580	.	0.102594	0.42548	N	0.000685	T	0.67767	0.2928	L	0.50333	1.59	0.80722	D	1	B	0.26744	0.158	B	0.30572	0.117	T	0.67397	-0.5681	10	0.59425	D	0.04	.	14.8125	0.70006	0.0:0.9309:0.0:0.0691	.	3587	P04114	APOB_HUMAN	T	3587	ENSP00000233242:A3587T	ENSP00000233242:A3587T	A	-	1	0	APOB	21082486	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	3.157000	0.50716	1.438000	0.47492	0.655000	0.94253	GCC		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	93	0	0	0	1	0	14	93				
SIAH3	283514	broad.mit.edu	37	13	46357982	46357982	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:46357982A>G	ENST00000400405.2	-	2	452	c.346T>C	c.(346-348)Tgg>Cgg	p.W116R		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	116					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CGGCCTTCCCACTGGCAGGAG	0.667																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(346-348)Tgg>Cgg		siah E3 ubiquitin protein ligase family member 3							58.0	65.0	63.0					13																	46357982		2090	4213	6303	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357982A>G		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.346T>C	13.37:g.46357982A>G	ENSP00000383256:p.Trp116Arg						p.W116R	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	452	-			116					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.346T>C	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218351	0.79464	.	.	ENSG00000215475	ENST00000400405	T	0.26957	1.7	5.19	5.19	0.71726	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.52306	0.1726	M	0.78344	2.41	0.49299	D	0.999771	D	0.76494	0.999	D	0.91635	0.999	T	0.58081	-0.7699	10	0.87932	D	0	-10.9667	14.2308	0.65890	1.0:0.0:0.0:0.0	.	116	Q8IW03	SIAH3_HUMAN	R	116	ENSP00000383256:W116R	ENSP00000383256:W116R	W	-	1	0	SIAH3	45255983	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.208000	0.95075	1.968000	0.57251	0.459000	0.35465	TGG		0.667	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		9	96	0	0	0	1	0	9	96				
CTNND2	1501	broad.mit.edu	37	5	11022970	11022970	+	Silent	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:11022970C>G	ENST00000304623.8	-	17	3099	c.2910G>C	c.(2908-2910)gtG>gtC	p.V970V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.V912V|CTNND2_ENST00000511377.1_Silent_p.V879V|CTNND2_ENST00000503622.1_Silent_p.V633V|CTNND2_ENST00000458100.2_Silent_p.V537V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	970					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTGGTAATCACTTCGTGCA	0.517																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2908-2910)gtG>gtC		catenin (cadherin-associated protein), delta 2							228.0	170.0	190.0					5																	11022970		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022970C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2910G>C	5.37:g.11022970C>G						CTNND2_ENST00000511377.1_Silent_p.V879V|CTNND2_ENST00000503622.1_Silent_p.V633V|CTNND2_ENST00000458100.2_Silent_p.V537V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.V912V	p.V970V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			17	3099	-			970					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2910G>C	CCDS3881.1																																																																																				0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		8	152	0	0	0	1	0	8	152				
UGT2B10	7365	broad.mit.edu	37	4	69692180	69692180	+	Missense_Mutation	SNP	G	G	A	rs200745704		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:69692180G>A	ENST00000265403.7	+	4	1079	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R267Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	351					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTCAATACTCGACTGTACAAG	0.383																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1051-1053)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide B10							146.0	138.0	141.0					4																	69692180		2203	4299	6502	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69692180G>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1052G>A	4.37:g.69692180G>A	ENSP00000265403:p.Arg351Gln					UGT2B10_ENST00000458688.2_Missense_Mutation_p.R267Q	p.R351Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			4	1079	+			351					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1052G>A		.	.	.	.	.	.	.	.	.	.	g	1.410	-0.575695	0.03882	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.62364	0.03;0.12	2.25	1.33	0.21861	.	0.332256	0.25994	U	0.026996	T	0.41396	0.1157	L	0.48642	1.525	0.09310	N	1	B;P	0.35107	0.137;0.484	B;B	0.19666	0.026;0.021	T	0.21965	-1.0230	10	0.36615	T	0.2	.	2.947	0.05849	0.1701:0.0:0.5645:0.2654	.	267;351	B4DPP1;P36537	.;UDB10_HUMAN	Q	351;267	ENSP00000265403:R351Q;ENSP00000413420:R267Q	ENSP00000265403:R351Q	R	+	2	0	UGT2B10	69726769	0.000000	0.05858	0.808000	0.32385	0.013000	0.08279	0.008000	0.13197	1.089000	0.41292	0.184000	0.17185	CGA		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		6	170	0	0	0	1	0	6	170				
ADAM33	80332	broad.mit.edu	37	20	3654462	3654462	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:3654462G>A	ENST00000356518.2	-	9	1076	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	ADAM33_ENST00000379861.4_Missense_Mutation_p.L279F|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.L279F	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	279	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AAGGCCCAGAGCGTGGCGTTG	0.721																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(835-837)Ctc>Ttc		ADAM metallopeptidase domain 33							5.0	6.0	6.0					20																	3654462		2054	4039	6093	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3654462G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.835C>T	20.37:g.3654462G>A	ENSP00000348912:p.Leu279Phe					ADAM33_ENST00000379861.4_Missense_Mutation_p.L279F|ADAM33_ENST00000350009.2_Missense_Mutation_p.L279F	p.L279F	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			9	1076	-			279			Peptidase M12B.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.835C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097284	0.94197	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009	T;T;T	0.74315	-0.83;-0.83;-0.83	5.39	4.43	0.53597	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.88089	0.6343	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90246	0.4290	9	0.87932	D	0	.	13.2698	0.60153	0.0795:0.0:0.9205:0.0	.	279;291;279;279;279	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	F	279	ENSP00000348912:L279F;ENSP00000369190:L279F;ENSP00000322550:L279F	ENSP00000322550:L279F	L	-	1	0	ADAM33	3602462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.716000	0.61916	2.526000	0.85167	0.462000	0.41574	CTC		0.721	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		5	7	0	0	0	1	0	5	7				
ICE1	23379	broad.mit.edu	37	5	5462044	5462044	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:5462044G>C	ENST00000296564.7	+	13	2819	c.2597G>C	c.(2596-2598)aGa>aCa	p.R866T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		866					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACAGACAAGACCTGAAAAG	0.418																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2596-2598)aGa>aCa		KIAA0947							94.0	89.0	91.0					5																	5462044		1883	4125	6008	SO:0001583	missense	23379							g.chr5:5462044G>C																												ENST00000296564.7:c.2597G>C	5.37:g.5462044G>C	ENSP00000296564:p.Arg866Thr						p.R866T	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2819	+			866					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.2597G>C	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.386498	0.61956	.	.	ENSG00000164151	ENST00000296564	T	0.11821	2.74	5.29	3.28	0.37604	.	0.379483	0.26492	N	0.024062	T	0.09598	0.0236	L	0.29908	0.895	0.09310	N	1	B	0.32829	0.386	B	0.36766	0.232	T	0.28744	-1.0034	10	0.23891	T	0.37	-15.9358	5.8121	0.18471	0.2761:0.0:0.7239:0.0	.	866	Q9Y2F5	K0947_HUMAN	T	866	ENSP00000296564:R866T	ENSP00000296564:R866T	R	+	2	0	KIAA0947	5515044	0.009000	0.17119	0.000000	0.03702	0.458000	0.32498	1.600000	0.36762	0.540000	0.28808	0.461000	0.40582	AGA		0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			48	111	0	0	0	1	0	48	111				
RCHY1	25898	broad.mit.edu	37	4	76439452	76439452	+	Silent	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:76439452T>G	ENST00000324439.5	-	1	443	c.45A>C	c.(43-45)cgA>cgC	p.R15R	THAP6_ENST00000380837.3_5'Flank|THAP6_ENST00000504190.1_5'Flank|RCHY1_ENST00000451788.1_Silent_p.R15R|THAP6_ENST00000508105.1_5'Flank|RCHY1_ENST00000380840.2_Silent_p.R15R|RCHY1_ENST00000512706.1_Splice_Site_p.E8A|THAP6_ENST00000311638.3_5'Flank|RCHY1_ENST00000513257.1_Silent_p.R15R|THAP6_ENST00000507885.1_5'Flank|THAP6_ENST00000514480.1_5'Flank|THAP6_ENST00000507556.1_5'Flank|RCHY1_ENST00000514021.1_Intron|THAP6_ENST00000502620.1_5'Flank|THAP6_ENST00000507557.1_5'Flank	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	15					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCCGCTGACCTCGCTCTTGAC	0.617																																						ENST00000512706.1																			0				large_intestine(2)|pancreas(1)	3						c.e1+1		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							90.0	78.0	82.0					4																	76439452		2203	4300	6503	SO:0001819	synonymous_variant	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76439452T>G	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.45A>C	4.37:g.76439452T>G						RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000451788.1_Silent_p.R15R|RCHY1_ENST00000324439.5_Silent_p.R15R|RCHY1_ENST00000513257.1_Silent_p.R15R|RCHY1_ENST00000380840.2_Silent_p.R15R	p.E8_splice			Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		1	188	-			30					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Splice_Site	SNP	ENST00000324439.5	37	c.24_splice	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	T	9.565	1.119466	0.20877	.	.	ENSG00000163743	ENST00000512706	T	0.29917	1.55	4.28	-1.94	0.07571	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.20307	N	0.999911	.	.	.	.	.	.	T	0.29488	-1.0010	6	0.16896	T	0.51	-7.768	1.7644	0.02998	0.1589:0.0962:0.3277:0.4172	.	.	.	.	A	8	ENSP00000423976:E8A	ENSP00000423976:E8A	E	-	2	0	RCHY1	76658476	0.001000	0.12720	0.041000	0.18516	0.377000	0.30045	0.255000	0.18333	-0.493000	0.06678	-0.531000	0.04308	GAG		0.617	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		6	66	0	0	0	1	0	6	66				
DCAF17	80067	broad.mit.edu	37	2	172305291	172305291	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:172305291T>C	ENST00000375255.3	+	4	749	c.422T>C	c.(421-423)cTt>cCt	p.L141P	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.L141P	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	141					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGAAAAATCCTTGAGAAAATA	0.333																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(421-423)cTt>cCt		DDB1 and CUL4 associated factor 17							74.0	73.0	74.0					2																	172305291		1809	4072	5881	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172305291T>C	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.422T>C	2.37:g.172305291T>C	ENSP00000364404:p.Leu141Pro					DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.L141P	p.L141P	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			4	749	+			141					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.422T>C	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395138	0.62066	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.62788	0.01;0.0	4.98	3.82	0.43975	.	0.000000	0.64402	D	0.000003	T	0.74023	0.3662	M	0.64997	1.995	0.80722	D	1	D;B	0.89917	1.0;0.008	D;B	0.91635	0.999;0.007	T	0.74575	-0.3620	10	0.87932	D	0	-8.8766	10.214	0.43158	0.0:0.08:0.0:0.92	.	141;141	F5H7W1;Q5H9S7	.;DCA17_HUMAN	P	141	ENSP00000364404:L141P;ENSP00000442238:L141P	ENSP00000364404:L141P	L	+	2	0	DCAF17	172013537	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.539000	0.60657	0.756000	0.33013	0.378000	0.23410	CTT		0.333	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		66	229	0	0	0	1	0	66	229				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	117	0	0	0	1	0	6	117				
PCDHGC5	56097	broad.mit.edu	37	5	140871102	140871102	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:140871102G>A	ENST00000252087.1	+	1	2295	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	765					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCTGCGGCCCACAGACT	0.617																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2293-2295)cgG>cgA									43.0	43.0	43.0					5																	140871102		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140871102G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2295G>A	5.37:g.140871102G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron	p.R765R	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2295	+			765					Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.2295G>A	CCDS4263.1																																																																																				0.617	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		18	52	0	0	0	1	0	18	52				
CYFIP2	26999	broad.mit.edu	37	5	156723768	156723768	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:156723768T>C	ENST00000521420.1	+	4	386	c.295T>C	c.(295-297)Ttc>Ctc	p.F99L	CYFIP2_ENST00000541131.1_Missense_Mutation_p.F50L|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.F125L|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F125L|CYFIP2_ENST00000318218.6_Missense_Mutation_p.F125L|CYFIP2_ENST00000522463.1_Intron					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCATGAAGTTCATGTATTT	0.517																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(373-375)Ttc>Ctc		cytoplasmic FMR1 interacting protein 2							100.0	100.0	100.0					5																	156723768		1937	4138	6075	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156723768T>C	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.295T>C	5.37:g.156723768T>C	ENSP00000430904:p.Phe99Leu					CYFIP2_ENST00000541131.1_Missense_Mutation_p.F50L|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.F99L|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F125L|CYFIP2_ENST00000318218.6_Missense_Mutation_p.F125L	p.F125L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	804	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	125						Missense_Mutation	SNP	ENST00000521420.1	37	c.373T>C		.	.	.	.	.	.	.	.	.	.	T	19.89	3.910257	0.72983	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.72353	2.195	0.80722	D	1	B;B;B;B;B	0.29481	0.006;0.003;0.049;0.14;0.245	B;B;B;B;B	0.33254	0.01;0.007;0.149;0.153;0.16	T	0.37572	-0.9700	10	0.25751	T	0.34	-24.7838	13.9856	0.64334	0.0:0.0:0.0:1.0	.	99;125;125;125;50	E7EVJ5;E7EVF4;Q96F07-2;Q96F07;B7Z4I3	.;.;.;CYFP2_HUMAN;.	L	125;99;125;125;50	ENSP00000325817:F125L;ENSP00000430904:F99L;ENSP00000313567:F125L;ENSP00000366799:F125L;ENSP00000444645:F50L	ENSP00000325817:F125L	F	+	1	0	CYFIP2	156656346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.884000	0.87274	1.705000	0.51264	0.460000	0.39030	TTC		0.517	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		28	52	0	0	0	1	0	28	52				
SLC29A2	3177	broad.mit.edu	37	11	66136979	66136979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:66136979C>T	ENST00000357440.2	-	3	364	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	SLC29A2_ENST00000544554.1_Missense_Mutation_p.A46T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A46T|SLC29A2_ENST00000311161.7_Missense_Mutation_p.A46T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	46					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTGTTGCCGGCCCCGGCCAGT	0.642																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(136-138)Gcc>Acc		solute carrier family 29 (equilibrative nucleoside transporter), member 2							143.0	146.0	145.0					11																	66136979		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136979C>T	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.136G>A	11.37:g.66136979C>T	ENSP00000350024:p.Ala46Thr					SLC29A2_ENST00000311161.7_Missense_Mutation_p.A46T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A46T|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A46T	p.A46T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			3	364	-			46					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.136G>A	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	4.193	0.034440	0.08101	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.81415	1.99;-1.49;-1.49;-1.49	4.14	2.21	0.28008	.	1.740700	0.02564	N	0.097069	T	0.59555	0.2202	N	0.02708	-0.52	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51663	-0.8677	10	0.22109	T	0.4	-2.375	4.9777	0.14149	0.0:0.6304:0.2458:0.1237	.	46;46	G5E943;Q14542	.;S29A2_HUMAN	T	46	ENSP00000311250:A46T;ENSP00000350024:A46T;ENSP00000439456:A46T;ENSP00000440329:A46T	ENSP00000311250:A46T	A	-	1	0	SLC29A2	65893555	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.362000	0.07602	0.384000	0.24942	-0.321000	0.08615	GCC		0.642	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		33	550	0	0	0	1	0	33	550				
ARHGAP4	393	broad.mit.edu	37	X	153184627	153184627	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:153184627G>A	ENST00000350060.5	-	6	833	c.792C>T	c.(790-792)gaC>gaT	p.D264D	ARHGAP4_ENST00000537206.1_Silent_p.D241D|ARHGAP4_ENST00000370016.1_Silent_p.D243D|ARHGAP4_ENST00000370028.3_Silent_p.D304D|ARHGAP4_ENST00000393721.1_Intron	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	264					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCAAGACGTCATGCAGGT	0.567																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(910-912)gaC>gaT		Rho GTPase activating protein 4							196.0	126.0	150.0					X																	153184627		2203	4300	6503	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184627G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.792C>T	X.37:g.153184627G>A						ARHGAP4_ENST00000370016.1_Silent_p.D243D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Silent_p.D264D|ARHGAP4_ENST00000537206.1_Silent_p.D241D	p.D304D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			7	969	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		264					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.912C>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	6.564	0.472376	0.12461	.	.	ENSG00000089820	ENST00000418750	.	.	.	4.44	-2.16	0.07080	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51616	-0.8683	4	.	.	.	.	10.6599	0.45696	0.6201:0.0:0.3799:0.0	.	.	.	.	C	152	.	.	R	-	1	0	ARHGAP4	152837821	0.006000	0.16342	0.029000	0.17559	0.952000	0.60782	-0.323000	0.07997	-0.498000	0.06632	-0.468000	0.05107	CGT		0.567	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		52	79	0	0	0	1	0	52	79				
FBN2	2201	broad.mit.edu	37	5	127622436	127622436	+	Missense_Mutation	SNP	C	C	T	rs370804151		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:127622436C>T	ENST00000508053.1	-	61	7960	c.6986G>A	c.(6985-6987)cGa>cAa	p.R2329Q	FBN2_ENST00000262464.4_Missense_Mutation_p.R2329Q			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2329Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCGGGCCTTCGGGCCATTCC	0.512																																						ENST00000508053.1																			2	Substitution - Missense(2)	p.R2329Q(2)	endometrium(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6985-6987)cGa>cAa		fibrillin 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	126.0	134.0		6986	4.5	1.0	5		134	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2329/2913	127622436	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127622436C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6986G>A	5.37:g.127622436C>T	ENSP00000424571:p.Arg2329Gln					FBN2_ENST00000262464.4_Missense_Mutation_p.R2329Q	p.R2329Q			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	61	7960	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2329			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6986G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832153	0.32421	2.27E-4	0.0	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91894	-2.93;-2.93	5.34	4.46	0.54185	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.116516	0.39083	N	0.001464	D	0.84288	0.5439	N	0.21508	0.67	0.38207	D	0.940349	B	0.26081	0.141	B	0.15484	0.013	T	0.80480	-0.1364	10	0.21540	T	0.41	.	13.4459	0.61140	0.0:0.8762:0.0:0.1238	.	2329	P35556	FBN2_HUMAN	Q	2329	ENSP00000262464:R2329Q;ENSP00000424571:R2329Q	ENSP00000262464:R2329Q	R	-	2	0	FBN2	127650335	0.929000	0.31497	0.977000	0.42913	0.436000	0.31835	2.034000	0.41145	2.937000	0.99478	0.650000	0.86243	CGA		0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	51	0	0	0	1	0	7	51				
RP1L1	94137	broad.mit.edu	37	8	10470230	10470230	+	Missense_Mutation	SNP	C	C	T	rs369924450		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:10470230C>T	ENST00000382483.3	-	4	1601	c.1378G>A	c.(1378-1380)Ggc>Agc	p.G460S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	460					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGGGGAGGCCGGTGCTGGAG	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		15207	0.001		0.0	False		,,,				2504	0.0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1378-1380)Ggc>Agc		retinitis pigmentosa 1-like 1		C	SER/GLY	0,4012		0,0,2006	27.0	34.0	32.0		1378	-0.0	0.0	8		32	1,8307		0,1,4153	no	missense	RP1L1	NM_178857.5	56	0,1,6159	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	460/2401	10470230	1,12319	2006	4154	6160	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470230C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1378G>A	8.37:g.10470230C>T	ENSP00000371923:p.Gly460Ser						p.G460S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1601	-			460					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1378G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560115	0.27827	0.0	1.2E-4	ENSG00000183638	ENST00000382483	T	0.04119	3.7	5.2	-0.0138	0.13982	.	0.623726	0.12461	U	0.466919	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	P	0.39624	0.681	B	0.24701	0.055	T	0.43861	-0.9365	10	0.07325	T	0.83	-1.9322	8.8168	0.35000	0.0:0.7033:0.0:0.2967	.	460	A6NKC6	.	S	460	ENSP00000371923:G460S	ENSP00000371923:G460S	G	-	1	0	RP1L1	10507640	0.013000	0.17824	0.000000	0.03702	0.007000	0.05969	0.650000	0.24858	0.006000	0.14734	-0.367000	0.07326	GGC		0.726	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			5	68	0	0	0	1	0	5	68				
GPR123	84435	broad.mit.edu	37	10	134896129	134896129	+	Silent	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:134896129T>G	ENST00000607359.1	+	6	1215	c.1215T>G	c.(1213-1215)tcT>tcG	p.S405S	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGAAGGTATCTGAGGCCCAGC	0.582																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1213-1215)tcT>tcG		G protein-coupled receptor 123							51.0	51.0	51.0					10																	134896129		1567	3582	5149	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134896129T>G	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1215T>G	10.37:g.134896129T>G							p.S405S			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	6	1215	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	37	c.1215T>G																																																																																					0.582	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			4	27	0	0	0	1	0	4	27				
CEP170B	283638	broad.mit.edu	37	14	105359965	105359965	+	Missense_Mutation	SNP	G	G	A	rs200856973		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:105359965G>A	ENST00000414716.3	+	15	4372	c.4144G>A	c.(4144-4146)Gcc>Acc	p.A1382T	CEP170B_ENST00000453495.1_Missense_Mutation_p.A1418T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1347T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A1312T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1417						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CTGTGAGGACGCCCTGGCCAA	0.677																																						ENST00000453495.1																			0											c.(4252-4254)Gcc>Acc		centrosomal protein 170B							15.0	19.0	17.0					14																	105359965		2129	4214	6343	SO:0001583	missense	283638							g.chr14:105359965G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4144G>A	14.37:g.105359965G>A	ENSP00000404151:p.Ala1382Thr					CEP170B_ENST00000418279.1_Missense_Mutation_p.A1312T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A1382T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1347T	p.A1418T							15	4480	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4252G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	3.261	-0.151131	0.06585	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.22	-4.55	0.03441	.	1.165010	0.06345	N	0.708778	T	0.20740	0.0499	L	0.29908	0.895	0.09310	N	1	B;P;P	0.37914	0.083;0.509;0.611	B;B;B	0.30401	0.022;0.077;0.115	T	0.18023	-1.0350	10	0.13470	T	0.59	-6.7686	5.0334	0.14421	0.2133:0.1405:0.5491:0.0971	.	1382;1417;1312	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	1347;1382;1418;1312;50	ENSP00000451249:A1347T;ENSP00000404151:A1382T;ENSP00000407238:A1418T;ENSP00000415006:A1312T	ENSP00000251181:A34T	A	+	1	0	KIAA0284	104431010	0.000000	0.05858	0.000000	0.03702	0.726000	0.41606	-0.721000	0.04963	-0.585000	0.05905	0.436000	0.28706	GCC		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	24	0	0	0	1	0	3	24				
DMXL2	23312	broad.mit.edu	37	15	51914710	51914710	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:51914710G>A	ENST00000251076.5	-	1	320	c.33C>T	c.(31-33)gtC>gtT	p.V11V	DMXL2_ENST00000543779.2_Silent_p.V11V|DMXL2_ENST00000449909.3_Silent_p.V11V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	11						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCAGGGTTGACAGCTCCGG	0.677																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(31-33)gtC>gtT		Dmx-like 2							30.0	26.0	27.0					15																	51914710		2183	4270	6453	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51914710G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.33C>T	15.37:g.51914710G>A						DMXL2_ENST00000449909.3_Silent_p.V11V|DMXL2_ENST00000543779.2_Silent_p.V11V	p.V11V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	1	320	-			11					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.33C>T	CCDS10141.1																																																																																				0.677	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	7	0	0	0	1	0	3	7				
CACNG8	59283	broad.mit.edu	37	19	54485394	54485394	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:54485394C>T	ENST00000270458.2	+	4	672	c.569C>T	c.(568-570)cCg>cTg	p.P190L	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	190					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAGCCGGGCCCGAAGCGGGAC	0.657																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(568-570)cCg>cTg		calcium channel, voltage-dependent, gamma subunit 8							42.0	36.0	38.0					19																	54485394		2200	4294	6494	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54485394C>T	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.569C>T	19.37:g.54485394C>T	ENSP00000270458:p.Pro190Leu						p.P190L	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	4	672	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		190					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.569C>T	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	17.84	3.488448	0.64074	.	.	ENSG00000142408	ENST00000270458	D	0.88431	-2.38	2.28	2.28	0.28536	.	0.091328	0.43579	U	0.000542	T	0.82019	0.4946	L	0.28274	0.84	0.29673	N	0.842322	P	0.50943	0.94	P	0.44561	0.453	D	0.85982	0.1483	9	0.56958	D	0.05	-0.1841	10.2916	0.43599	0.0:1.0:0.0:0.0	.	190	Q8WXS5	CCG8_HUMAN	L	190	ENSP00000270458:P190L	ENSP00000270458:P190L	P	+	2	0	CACNG8	59177206	0.742000	0.28228	1.000000	0.80357	0.976000	0.68499	1.484000	0.35508	1.296000	0.44742	0.289000	0.19496	CCG		0.657	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			6	26	0	0	0	1	0	6	26				
RTN4RL1	146760	broad.mit.edu	37	17	1840240	1840240	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:1840240G>A	ENST00000331238.6	-	2	1355	c.876C>T	c.(874-876)gaC>gaT	p.D292D		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCAGCTTCAGGTCCTGGCCGT	0.692																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(874-876)gaC>gaT		reticulon 4 receptor-like 1							13.0	15.0	14.0					17																	1840240		2126	4235	6361	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840240G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.876C>T	17.37:g.1840240G>A							p.D292D	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	894	-			292			LRRCT.			Silent	SNP	ENST00000331238.6	37	c.876C>T	CCDS45569.1																																																																																				0.692	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		9	25	0	0	0	1	0	9	25				
SLC13A3	64849	broad.mit.edu	37	20	45224886	45224886	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:45224886A>T	ENST00000279027.4	-	5	722	c.704T>A	c.(703-705)cTc>cAc	p.L235H	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S213T|SLC13A3_ENST00000372121.1_Missense_Mutation_p.S213T|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L188H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L188H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	235					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GATGGAGATGAGGAAGCCCTT	0.567																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(703-705)cTc>cAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						136.0	117.0	124.0					20																	45224886		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45224886A>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.704T>A	20.37:g.45224886A>T	ENSP00000279027:p.Leu235His					SLC13A3_ENST00000495082.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L188H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S213T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.S213T	p.L235H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			5	722	-		Myeloproliferative disorder(115;0.0122)	235					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.704T>A	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.390950|4.390950	0.82902|0.82902	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915|ENST00000413164;ENST00000420568;ENST00000372121	T;T;T;T;T;T|T;T;T	0.03242|0.09073	4.0;4.0;4.0;4.0;4.0;4.0|3.72;3.02;3.02	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.062767|.	0.64402|.	D|.	0.000007|.	T|T	0.15609|0.15609	0.0376|0.0376	M|M	0.90252|0.90252	3.1|3.1	0.80722|0.80722	D|D	1|1	D;D;D|B	0.89917|0.12630	1.0;1.0;1.0|0.006	D;D;D|B	0.97110|0.15484	0.999;1.0;1.0|0.013	T|T	0.38564|0.38564	-0.9655|-0.9655	10|9	0.45353|0.02654	T|T	0.12|1	-41.8328|-41.8328	15.7996|15.7996	0.78443|0.78443	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	188;188;235|213	Q8WWT9-3;F6WI18;Q8WWT9|B4DIR8	.;.;S13A3_HUMAN|.	H|T	188;188;235;188;188;188|213;176;213	ENSP00000290317:L188H;ENSP00000379648:L188H;ENSP00000279027:L235H;ENSP00000420177:L188H;ENSP00000419621:L188H;ENSP00000417784:L188H|ENSP00000415852:S213T;ENSP00000395095:S176T;ENSP00000361193:S213T	ENSP00000279027:L235H|ENSP00000361193:S213T	L|S	-|-	2|1	0|0	SLC13A3|SLC13A3	44658293|44658293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.962000|8.962000	0.93254|0.93254	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.567	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			26	73	0	0	0	1	0	26	73				
PIK3R5	23533	broad.mit.edu	37	17	8789598	8789598	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:8789598G>T	ENST00000447110.1	-	14	2200	c.2076C>A	c.(2074-2076)atC>atA	p.I692I	PIK3R5_ENST00000584803.1_Silent_p.I691I|PIK3R5_ENST00000581552.1_Silent_p.I692I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	692	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCAAGGAGTGGATGAAGATCT	0.607																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2074-2076)atC>atA		phosphoinositide-3-kinase, regulatory subunit 5							111.0	81.0	91.0					17																	8789598		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8789598G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2076C>A	17.37:g.8789598G>T						PIK3R5_ENST00000581552.1_Silent_p.I692I|PIK3R5_ENST00000584803.1_Silent_p.I691I	p.I692I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			14	2200	-			692			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2076C>A	CCDS11147.1																																																																																				0.607	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		15	34	1	0	1.3612e-06	1	1.44329e-06	15	34				
ZFAT	57623	broad.mit.edu	37	8	135614102	135614102	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:135614102G>A	ENST00000377838.3	-	6	2034	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	ZFAT_ENST00000523399.1_Silent_p.H558H|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Silent_p.H608H|ZFAT_ENST00000520727.1_Silent_p.H608H|ZFAT_ENST00000520214.1_Silent_p.H608H|ZFAT_ENST00000520356.1_Silent_p.H608H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	620					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGAGCTTCTGTGCTGCATGT	0.537																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1822-1824)caC>caT		zinc finger and AT hook domain containing							77.0	80.0	79.0					8																	135614102		2029	4197	6226	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614102G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1860C>T	8.37:g.135614102G>A						ZFAT_ENST00000377838.3_Silent_p.H620H|ZFAT_ENST00000523399.1_Silent_p.H558H|ZFAT_ENST00000520356.1_Silent_p.H608H|ZFAT_ENST00000520214.1_Silent_p.H608H|ZFAT_ENST00000429442.2_Silent_p.H608H	p.H608H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	2123	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		620					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1824C>T	CCDS47924.1																																																																																				0.537	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		37	118	0	0	0	1	0	37	118				
OR2W3	343171	broad.mit.edu	37	1	248059008	248059008	+	Silent	SNP	A	A	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:248059008A>C	ENST00000360358.3	+	1	120	c.120A>C	c.(118-120)gtA>gtC	p.V40V	OR2W3_ENST00000537741.1_Silent_p.V40V	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGACCCTCGTAGGCAACACCA	0.572																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(118-120)gtA>gtC		olfactory receptor, family 2, subfamily W, member 3							191.0	166.0	174.0					1																	248059008		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059008A>C	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.120A>C	1.37:g.248059008A>C						OR2W3_ENST00000360358.3_Silent_p.V40V	p.V40V			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	377	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		40					Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.120A>C	CCDS31099.1																																																																																				0.572	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		91	167	0	0	0	1	0	91	167				
RSF1	51773	broad.mit.edu	37	11	77386244	77386244	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:77386244C>T	ENST00000308488.6	-	14	3701	c.3399G>A	c.(3397-3399)ccG>ccA	p.P1133P	RSF1_ENST00000360355.2_Silent_p.P1102P|RSF1_ENST00000480887.1_Silent_p.P881P			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1133					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CATTAGATGGCGGATCTTCTT	0.448																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3397-3399)ccG>ccA		remodeling and spacing factor 1							113.0	107.0	109.0					11																	77386244		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77386244C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3399G>A	11.37:g.77386244C>T						RSF1_ENST00000480887.1_Silent_p.P881P|RSF1_ENST00000360355.2_Silent_p.P1102P	p.P1133P			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		14	3701	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1133					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.3399G>A	CCDS8253.1																																																																																				0.448	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		38	36	0	0	0	1	0	38	36				
LOC101243545	101243545	broad.mit.edu	37	3	161146958	161146958	+	lincRNA	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:161146958T>C	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AGCATCGTAATCAGGAGCCAG	0.403																																						ENST00000473595.1																			0																				89.0	100.0	96.0					3																	161146958		1473	2617	4090			101243545							g.chr3:161146958T>C																													3.37:g.161146958T>C						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.403	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			4	206	0	0	0	1	0	4	206				
GALNT13	114805	broad.mit.edu	37	2	154996991	154996991	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:154996991G>A	ENST00000392825.3	+	4	851	c.284G>A	c.(283-285)aGa>aAa	p.R95K	GALNT13_ENST00000409237.1_Missense_Mutation_p.R95K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	95					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCCTTAATAGAAGTCTGCCA	0.328																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(283-285)aGa>aAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							95.0	95.0	95.0					2																	154996991		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:154996991G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.284G>A	2.37:g.154996991G>A	ENSP00000376570:p.Arg95Lys					GALNT13_ENST00000409237.1_Missense_Mutation_p.R95K	p.R95K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			4	851	+			95					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.284G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261811	0.95368	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.67345	-0.26;-0.26	6.04	6.04	0.98038	.	0.090003	0.85682	D	0.000000	D	0.86326	0.5906	H	0.95151	3.63	0.80722	D	1	D;P	0.71674	0.998;0.898	P;P	0.59487	0.858;0.677	D	0.89589	0.3826	10	0.87932	D	0	.	19.1966	0.93691	0.0:0.0:1.0:0.0	.	95;95	Q08ER7;Q8IUC8	.;GLT13_HUMAN	K	95	ENSP00000376570:R95K;ENSP00000387239:R95K	ENSP00000376570:R95K	R	+	2	0	GALNT13	154705237	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.776000	0.99001	2.885000	0.99019	0.579000	0.79373	AGA		0.328	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		24	97	0	0	0	1	0	24	97				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	67	0	0	0	1	0	4	67				
SYNE1	23345	broad.mit.edu	37	6	152832197	152832197	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:152832197G>T	ENST00000367255.5	-	7	952	c.351C>A	c.(349-351)ggC>ggA	p.G117G	SYNE1_ENST00000413186.2_Silent_p.G117G|SYNE1_ENST00000341594.5_Silent_p.G117G|SYNE1_ENST00000367248.3_Silent_p.G124G|SYNE1_ENST00000367253.4_Silent_p.G117G|SYNE1_ENST00000423061.1_Silent_p.G124G|SYNE1_ENST00000448038.1_Silent_p.G124G|SYNE1_ENST00000265368.4_Silent_p.G117G|SYNE1_ENST00000466159.2_Silent_p.G117G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	117	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAGGGTCGGCCATCAGCTA	0.348										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(349-351)ggC>ggA		spectrin repeat containing, nuclear envelope 1							169.0	171.0	170.0					6																	152832197		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152832197G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.351C>A	6.37:g.152832197G>T		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.G124G|SYNE1_ENST00000423061.1_Silent_p.G124G|SYNE1_ENST00000341594.5_Silent_p.G117G|SYNE1_ENST00000367248.3_Silent_p.G124G|SYNE1_ENST00000265368.4_Silent_p.G117G|SYNE1_ENST00000413186.2_Silent_p.G117G|SYNE1_ENST00000367253.4_Silent_p.G117G|SYNE1_ENST00000466159.2_Silent_p.G117G	p.G117G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	7	952	-		Ovarian(120;0.0955)	117			Actin-binding.|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.351C>A	CCDS5236.2																																																																																				0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	186	1	0	0.0215528	1	0.021759	5	186				
INSIG1	3638	broad.mit.edu	37	7	155093399	155093399	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:155093399C>T	ENST00000340368.4	+	3	747	c.536C>T	c.(535-537)gCt>gTt	p.A179V	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	179					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGCCAGTGCTGTATCCTTA	0.403																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.e3+1		insulin induced gene 1							168.0	148.0	155.0					7																	155093399		2203	4300	6503	SO:0001630	splice_region_variant	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155093399C>T		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.537+1C>T	7.37:g.155093399C>T						INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	p.A179_splice	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	747	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	179					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Splice_Site	SNP	ENST00000340368.4	37	c.537_splice	CCDS5938.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595184	0.66219	.	.	ENSG00000186480	ENST00000340368	T	0.48201	0.82	5.25	5.25	0.73442	.	0.052167	0.85682	D	0.000000	T	0.47135	0.1429	L	0.55834	1.745	0.80722	D	1	B	0.24426	0.103	B	0.23574	0.047	T	0.36648	-0.9739	10	0.33940	T	0.23	.	18.8026	0.92023	0.0:1.0:0.0:0.0	.	179	O15503	INSI1_HUMAN	V	179	ENSP00000344741:A179V	ENSP00000344741:A179V	A	+	2	0	INSIG1	154724332	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.633000	0.67825	2.602000	0.87976	0.655000	0.94253	GCT		0.403	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336	Missense_Mutation	30	163	0	0	0	1	0	30	163				
PSG3	5671	broad.mit.edu	37	19	43233953	43233953	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:43233953T>C	ENST00000327495.5	-	4	1149	c.965A>G	c.(964-966)tAc>tGc	p.Y322C	PSG3_ENST00000595140.1_Missense_Mutation_p.Y322C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	322	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTGACTGGGTAACTGCGGAT	0.493																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(964-966)tAc>tGc		pregnancy specific beta-1-glycoprotein 3							166.0	150.0	156.0					19																	43233953		1511	2709	4220	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233953T>C		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.965A>G	19.37:g.43233953T>C	ENSP00000332215:p.Tyr322Cys					PSG3_ENST00000595140.1_Missense_Mutation_p.Y322C	p.Y322C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			4	1149	-		Prostate(69;0.00682)	322			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.965A>G	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	t	10.16	1.273502	0.23221	.	.	ENSG00000221826	ENST00000327495	T	0.12147	2.71	1.36	1.36	0.22044	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13628	0.0330	N	0.19112	0.55	0.09310	N	1	P;P	0.43607	0.812;0.674	P;P	0.52627	0.704;0.704	T	0.17137	-1.0379	9	0.62326	D	0.03	.	4.7401	0.13008	0.0:0.0:0.0:1.0	.	300;322	Q08266;Q16557	.;PSG3_HUMAN	C	322	ENSP00000332215:Y322C	ENSP00000332215:Y322C	Y	-	2	0	PSG3	47925793	0.944000	0.32072	0.031000	0.17742	0.018000	0.09664	1.983000	0.40648	0.582000	0.29556	0.329000	0.21502	TAC		0.493	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		59	168	0	0	0	1	0	59	168				
MOGS	7841	broad.mit.edu	37	2	74689354	74689354	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:74689354T>G	ENST00000233616.4	-	4	1724	c.1562A>C	c.(1561-1563)cAt>cCt	p.H521P	MOGS_ENST00000452063.2_Missense_Mutation_p.H415P|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	521					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTCTAGCATATGGGCTACAGG	0.602																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1561-1563)cAt>cCt		mannosyl-oligosaccharide glucosidase							68.0	74.0	72.0					2																	74689354		1982	4167	6149	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689354T>G	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1562A>C	2.37:g.74689354T>G	ENSP00000233616:p.His521Pro					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.H415P	p.H521P	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1724	-			521					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1562A>C	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	9.563	1.119038	0.20877	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37411	1.2;1.2;1.2	5.19	4.0	0.46444	Six-hairpin glycosidase-like (1);	0.238464	0.42821	D	0.000656	T	0.26304	0.0642	N	0.14661	0.345	0.80722	D	1	P	0.48911	0.917	P	0.48166	0.569	T	0.01810	-1.1269	10	0.37606	T	0.19	-18.9501	9.3485	0.38122	0.0:0.0866:0.0:0.9134	.	521	Q13724	MOGS_HUMAN	P	521;415;415	ENSP00000233616:H521P;ENSP00000388201:H415P;ENSP00000410992:H415P	ENSP00000233616:H521P	H	-	2	0	MOGS	74542862	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.654000	0.37334	2.188000	0.69820	0.533000	0.62120	CAT		0.602	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		11	94	0	0	0	1	0	11	94				
TMX4	56255	broad.mit.edu	37	20	7964485	7964485	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:7964485T>G	ENST00000246024.2	-	7	850	c.635A>C	c.(634-636)gAa>gCa	p.E212A		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ATAGAAACATTCTGATATTAC	0.388																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(634-636)gAa>gCa		thioredoxin-related transmembrane protein 4							123.0	114.0	117.0					20																	7964485		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7964485T>G		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.635A>C	20.37:g.7964485T>G	ENSP00000246024:p.Glu212Ala						p.E212A	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			7	850	-			212					Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.635A>C	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955550	0.53293	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.42900	0.96;0.96	4.69	4.69	0.59074	.	0.054655	0.64402	D	0.000002	T	0.49695	0.1572	M	0.70595	2.14	0.41458	D	0.988029	D	0.56746	0.977	P	0.49887	0.625	T	0.56251	-0.8010	10	0.66056	D	0.02	-21.7709	10.8307	0.46659	0.0:0.0:0.0:1.0	.	212	Q9H1E5	TMX4_HUMAN	A	212;184	ENSP00000246024:E212A;ENSP00000435735:E184A	ENSP00000246024:E212A	E	-	2	0	TMX4	7912485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.618000	0.54188	2.330000	0.79161	0.477000	0.44152	GAA		0.388	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		21	58	0	0	0	1	0	21	58				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			25	84	0	0	0	1	0	25	84				
NSD1	64324	broad.mit.edu	37	5	176637097	176637097	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:176637097G>A	ENST00000439151.2	+	5	1742	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	NSD1_ENST00000347982.4_Missense_Mutation_p.G297E|NSD1_ENST00000361032.4_Missense_Mutation_p.G463E|NSD1_ENST00000354179.4_Missense_Mutation_p.G297E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	566					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGCCCCAGGAAGTTTTCTG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CD051767	NSD1	D		c.(1696-1698)gGa>gAa		nuclear receptor binding SET domain protein 1							55.0	62.0	60.0					5																	176637097		2202	4300	6502	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637097G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1697G>A	5.37:g.176637097G>A	ENSP00000395929:p.Gly566Glu	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.G297E|NSD1_ENST00000361032.4_Missense_Mutation_p.G463E|NSD1_ENST00000347982.4_Missense_Mutation_p.G297E	p.G566E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1742	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	566					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1697G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580404	0.00879	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.91894	-2.82;-2.83;-2.82;-2.93	5.33	1.21	0.21127	.	0.700616	0.13654	N	0.372092	T	0.80660	0.4665	N	0.12182	0.205	0.09310	N	1	B;B;B	0.20988	0.005;0.05;0.001	B;B;B	0.17722	0.008;0.019;0.004	T	0.66618	-0.5878	9	.	.	.	.	6.513	0.22232	0.132:0.5565:0.3115:0.0	.	297;463;566	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	E	297;297;566;297;463	ENSP00000346111:G297E;ENSP00000395929:G566E;ENSP00000343209:G297E;ENSP00000354310:G463E	.	G	+	2	0	NSD1	176569703	0.993000	0.37304	0.129000	0.21949	0.151000	0.21798	1.984000	0.40658	0.693000	0.31634	0.591000	0.81541	GGA		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		11	73	0	0	0	1	0	11	73				
C2CD4B	388125	broad.mit.edu	37	15	62456205	62456205	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:62456205C>A	ENST00000380392.3	-	2	1107	c.979G>T	c.(979-981)Gac>Tac	p.D327Y		NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN	C2 calcium-dependent domain containing 4B	327	C2.					focal adhesion (GO:0005925)|nucleolus (GO:0005730)				skin(1)	1						CGCACCTCGTCTTCCGAGAGG	0.726																																						ENST00000380392.3																			0				skin(1)	1						c.(979-981)Gac>Tac		C2 calcium-dependent domain containing 4B							8.0	9.0	8.0					15																	62456205		2138	4179	6317	SO:0001583	missense	388125					nucleus		g.chr15:62456205C>A	BM023530	CCDS32259.1	15q22.2	2009-09-28	2009-09-28	2009-09-28					33628	protein-coding gene	gene with protein product	"""nuclear localized factor 2"""	610344	"""family with sequence similarity 148, member B"""	FAM148B			Standard	NM_001007595		Approved	NLF2	uc002ahg.2	A6NLJ0		ENST00000380392.3:c.979G>T	15.37:g.62456205C>A	ENSP00000369755:p.Asp327Tyr						p.D327Y	NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN			2	1107	-			327			C2.			Missense_Mutation	SNP	ENST00000380392.3	37	c.979G>T	CCDS32259.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206297	0.58343	.	.	ENSG00000205502	ENST00000380392	T	0.79845	-1.31	3.38	1.41	0.22369	.	0.485920	0.22603	N	0.057934	T	0.70254	0.3203	L	0.50333	1.59	0.33643	D	0.607536	B	0.16396	0.017	B	0.12837	0.008	T	0.69558	-0.5113	10	0.72032	D	0.01	.	4.2709	0.10785	0.1942:0.6081:0.0:0.1977	.	327	A6NLJ0	C2C4B_HUMAN	Y	327	ENSP00000369755:D327Y	ENSP00000369755:D327Y	D	-	1	0	C2CD4B	60243497	0.978000	0.34361	0.880000	0.34516	0.554000	0.35429	1.835000	0.39181	0.729000	0.32403	0.484000	0.47621	GAC		0.726	C2CD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416117.1	NM_001007595		6	15	1	0	8.12818e-05	1	8.53257e-05	6	15				
CC2D2A	57545	broad.mit.edu	37	4	15529187	15529187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:15529187C>T	ENST00000503292.1	+	13	1447	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.R423*|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R374*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R423*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	423					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTGTTTTAGCCGAGAGCATGT	0.443																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1267-1269)Cga>Tga		coiled-coil and C2 domain containing 2A							88.0	82.0	83.0					4																	15529187		1905	4130	6035	SO:0001587	stop_gained	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15529187C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1267C>T	4.37:g.15529187C>T	ENSP00000421809:p.Arg423*					CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R374*|CC2D2A_ENST00000503292.1_Nonsense_Mutation_p.R423*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R423*	p.R423*			Q9P2K1	C2D2A_HUMAN			12	1521	+			423					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	ENST00000503292.1	37	c.1267C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	42	9.327014	0.99138	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	.	.	.	5.78	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7475	0.85476	0.1299:0.87:0.0:0.0	.	.	.	.	X	423;423;374;374;423;423;374	.	ENSP00000374303:R374X	R	+	1	2	CC2D2A	15138285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.438000	0.52871	1.560000	0.49568	0.591000	0.81541	CGA		0.443	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		7	22	0	0	0	1	0	7	22				
FKBP14	55033	broad.mit.edu	37	7	30066235	30066235	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:30066235G>T	ENST00000222803.5	-	0	65				PLEKHA8_ENST00000396257.2_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000258679.7_5'Flank|PLEKHA8_ENST00000449726.1_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						GACAAGTTCAGGACTCCCCCT	0.473																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5								FK506 binding protein 14, 22 kDa																																						55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066235G>T	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442		7.37:g.30066235G>T								NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			0	65	-									Translation_Start_Site	SNP	ENST00000222803.5	37		CCDS5423.1																																																																																				0.473	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		5	9	1	0	0.014758	1	0.0149708	5	9				
PCDHB13	56123	broad.mit.edu	37	5	140594564	140594564	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:140594564G>T	ENST00000341948.4	+	1	1056	c.869G>T	c.(868-870)gGc>gTc	p.G290V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAGATTGGCAAAACCTTT	0.418																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(868-870)gGc>gTc									103.0	106.0	105.0					5																	140594564		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594564G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.869G>T	5.37:g.140594564G>T	ENSP00000345491:p.Gly290Val						p.G290V	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1056	+			290			Cadherin 3.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.869G>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	g	3.721	-0.057516	0.07317	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01745	4.66	3.51	-3.15	0.05233	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01124	0.0037	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.47711	-0.9096	9	0.27082	T	0.32	.	1.2089	0.01900	0.3081:0.2558:0.3068:0.1294	.	290	Q9Y5F0	PCDBD_HUMAN	V	290	ENSP00000345491:G290V	ENSP00000345491:G290V	G	+	2	0	PCDHB13	140574748	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-4.420000	0.00236	-1.157000	0.02815	0.306000	0.20318	GGC		0.418	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		64	104	1	0	1.31171e-36	1	1.52071e-36	64	104				
PSG3	5671	broad.mit.edu	37	19	43242949	43242949	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:43242949G>T	ENST00000327495.5	-	2	541	c.357C>A	c.(355-357)tcC>tcA	p.S119S	PSG3_ENST00000595140.1_Silent_p.S119S|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	119	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTAAGGTGTAGGATCCTGCGT	0.478																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(355-357)tcC>tcA		pregnancy specific beta-1-glycoprotein 3							404.0	358.0	374.0					19																	43242949		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43242949G>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.357C>A	19.37:g.43242949G>T						PSG3_ENST00000595140.1_Silent_p.S119S|PSG3_ENST00000490592.1_5'UTR	p.S119S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			2	541	-		Prostate(69;0.00682)	119			Ig-like V-type.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.357C>A	CCDS12611.1																																																																																				0.478	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		9	588	1	0	5.4927e-09	1	5.91306e-09	9	588				
ZNF525	170958	broad.mit.edu	37	19	53884803	53884803	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:53884803A>T	ENST00000355326.3	+	1	125	c.125A>T	c.(124-126)gAg>gTg	p.E42V	ZNF525_ENST00000474037.1_Missense_Mutation_p.E324V|ZNF525_ENST00000467003.1_Missense_Mutation_p.E288V|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525	42					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)			endometrium(3)|kidney(3)|lung(3)	9						CATACTGGAGAGAAACCACAT	0.403																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(862-864)gAg>gTg		zinc finger protein 525																																				SO:0001583	missense	170958							g.chr19:53884803A>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.125A>T	19.37:g.53884803A>T	ENSP00000408929:p.Glu42Val					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E324V|ZNF525_ENST00000355326.3_Missense_Mutation_p.E42V	p.E288V							4	1064	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.863A>T		.	.	.	.	.	.	.	.	.	.	A	14.98	2.696448	0.48202	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.26810	1.71;1.71;1.71	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46521	0.1397	.	.	.	0.33366	D	0.572907	D	0.89917	1.0	D	0.97110	1.0	T	0.58393	-0.7644	8	0.72032	D	0.01	.	8.4355	0.32784	1.0:0.0:0.0:0.0	.	42	Q8N782	ZN525_HUMAN	V	324;288;42	ENSP00000417696:E324V;ENSP00000419136:E288V;ENSP00000408929:E42V	ENSP00000408929:E42V	E	+	2	0	ZNF525	58576615	0.949000	0.32298	0.049000	0.19019	0.017000	0.09413	5.548000	0.67255	0.832000	0.34804	0.248000	0.18094	GAG		0.403	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		25	72	0	0	0	1	0	25	72				
IGKV3D-20	28874	broad.mit.edu	37	2	90078112	90078112	+	RNA	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:90078112G>A	ENST00000390270.2	+	0	246									immunoglobulin kappa variable 3D-20																		CAGAGTGTTAGCAGCAGCTAC	0.587																																						ENST00000390270.2																			0																				77.0	77.0	77.0					2																	90078112		1888	4115	6003			28874							g.chr2:90078112G>A	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078112G>A														0	246	+									RNA	SNP	ENST00000390270.2	37																																																																																						0.587	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		13	139	0	0	0	1	0	13	139				
TAS2R40	259286	broad.mit.edu	37	7	142919351	142919351	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:142919351G>A	ENST00000408947.3	+	1	222	c.180G>A	c.(178-180)atG>atA	p.M60I	AC073342.1_ENST00000595842.1_Missense_Mutation_p.H4Y	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	60					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					ACCGCATTATGTTGATGCTGA	0.488																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(178-180)atG>atA		taste receptor, type 2, member 40							105.0	105.0	105.0					7																	142919351		1962	4161	6123	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919351G>A	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.180G>A	7.37:g.142919351G>A	ENSP00000386210:p.Met60Ile					AC073342.1_ENST00000595842.1_Missense_Mutation_p.H4Y	p.M60I	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	222	+	Melanoma(164;0.059)		60					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.180G>A	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317885	0.40996	.	.	ENSG00000221937	ENST00000408947	T	0.00666	5.91	5.18	3.22	0.36961	.	0.407855	0.20670	U	0.087850	T	0.00784	0.0026	N	0.24115	0.695	0.09310	N	0.999993	B	0.27192	0.171	B	0.26770	0.073	T	0.50250	-0.8850	10	0.45353	T	0.12	.	11.0232	0.47730	0.0:0.1399:0.715:0.1451	.	60	P59535	T2R40_HUMAN	I	60	ENSP00000386210:M60I	ENSP00000386210:M60I	M	+	3	0	TAS2R40	142629473	0.886000	0.30341	0.065000	0.19835	0.824000	0.46624	1.755000	0.38379	1.283000	0.44513	0.655000	0.94253	ATG		0.488	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			37	85	0	0	0	1	0	37	85				
SENP6	26054	broad.mit.edu	37	6	76333615	76333615	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:76333615G>A	ENST00000447266.2	+	3	624		c.e3-1		SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000370014.3_Splice_Site	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCTGTGTAGTGGGACAAAT	0.333																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e3-1		SUMO1/sentrin specific peptidase 6							207.0	195.0	199.0					6																	76333615		1828	4083	5911	SO:0001630	splice_region_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76333615G>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.147-1G>A	6.37:g.76333615G>A						SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site		NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			3	765	+		all_hematologic(105;0.189)						A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Splice_Site	SNP	ENST00000447266.2	37		CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448876	0.63178	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.027	0.89272	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SENP6	76390335	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.884000	0.69729	2.667000	0.90743	0.491000	0.48974	.		0.333	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	Intron	12	52	0	0	0	1	0	12	52				
ROR2	4920	broad.mit.edu	37	9	94485948	94485948	+	Missense_Mutation	SNP	G	G	A	rs199840505		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:94485948G>A	ENST00000375708.3	-	9	3026	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	943					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCCACTCAAGCTTCCAGCTG	0.612																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2827-2829)gCt>gTt		receptor tyrosine kinase-like orphan receptor 2							36.0	40.0	39.0					9																	94485948		2203	4299	6502	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94485948G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2828C>T	9.37:g.94485948G>A	ENSP00000364860:p.Ala943Val					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.A943V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	3026	-			943					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2828C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045406	0.55110	.	.	ENSG00000169071	ENST00000375708	T	0.78126	-1.15	4.45	4.45	0.53987	.	0.000000	0.41938	D	0.000800	T	0.77538	0.4145	N	0.08118	0	0.58432	D	0.999998	D	0.63880	0.993	D	0.72625	0.978	D	0.83606	0.0131	10	0.87932	D	0	.	17.6502	0.88161	0.0:0.0:1.0:0.0	.	943	Q01974	ROR2_HUMAN	V	943	ENSP00000364860:A943V	ENSP00000364860:A943V	A	-	2	0	ROR2	93525769	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.066000	0.57520	2.466000	0.83321	0.561000	0.74099	GCT		0.612	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			15	79	0	0	0	1	0	15	79				
PDE3A	5139	broad.mit.edu	37	12	20833114	20833114	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:20833114C>G	ENST00000359062.3	+	16	3375	c.3335C>G	c.(3334-3336)tCt>tGt	p.S1112C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1112					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CAGTCGCACTCTTCAGAACAG	0.478																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3334-3336)tCt>tGt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						99.0	97.0	98.0					12																	20833114		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833114C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3335C>G	12.37:g.20833114C>G	ENSP00000351957:p.Ser1112Cys					PDE3A_ENST00000544307.1_3'UTR	p.S1112C	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3375	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1112					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3335C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	8.516	0.867711	0.17250	.	.	ENSG00000172572	ENST00000359062	T	0.63255	-0.03	5.72	4.83	0.62350	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	2.019320	0.01443	N	0.015176	T	0.62011	0.2393	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50898	-0.8773	10	0.56958	D	0.05	.	12.7704	0.57417	0.0:0.9245:0.0:0.0755	.	1112	Q14432	PDE3A_HUMAN	C	1112	ENSP00000351957:S1112C	ENSP00000351957:S1112C	S	+	2	0	PDE3A	20724381	0.014000	0.17966	0.645000	0.29479	0.410000	0.31052	2.092000	0.41700	1.409000	0.46915	0.655000	0.94253	TCT		0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			25	145	0	0	0	1	0	25	145				
LINGO2	158038	broad.mit.edu	37	9	27950061	27950061	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:27950061G>T	ENST00000379992.2	-	6	1058	c.609C>A	c.(607-609)ctC>ctA	p.L203L	LINGO2_ENST00000308675.3_Silent_p.L203L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	203						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGGCTGATGAGGCTGCGGA	0.478																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(607-609)ctC>ctA		leucine rich repeat and Ig domain containing 2							72.0	74.0	74.0					9																	27950061		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27950061G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.609C>A	9.37:g.27950061G>T						LINGO2_ENST00000308675.3_Silent_p.L203L	p.L203L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1058	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	203					A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.609C>A	CCDS6524.1																																																																																				0.478	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		19	44	1	0	2.35188e-11	1	2.59815e-11	19	44				
SRRM4	84530	broad.mit.edu	37	12	119583316	119583316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:119583316C>A	ENST00000267260.4	+	9	1290	c.902C>A	c.(901-903)tCa>tAa	p.S301*		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	301	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAAACCAGCTCAGCCAGGTCT	0.612																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(901-903)tCa>tAa		serine/arginine repetitive matrix 4							26.0	31.0	30.0					12																	119583316		1978	4157	6135	SO:0001587	stop_gained	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583316C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.902C>A	12.37:g.119583316C>A	ENSP00000267260:p.Ser301*						p.S301*	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1290	+			301			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Nonsense_Mutation	SNP	ENST00000267260.4	37	c.902C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	39	7.845815	0.98522	.	.	ENSG00000139767	ENST00000267260	.	.	.	5.48	4.59	0.56863	.	0.213520	0.41396	D	0.000893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6317	14.2154	0.65790	0.0:0.9282:0.0:0.0718	.	.	.	.	X	301	.	.	S	+	2	0	SRRM4	118067699	0.998000	0.40836	0.986000	0.45419	0.992000	0.81027	3.752000	0.55172	1.322000	0.45245	0.655000	0.94253	TCA		0.612	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		9	28	1	0	0.000274275	1	0.000285084	9	28				
RPTN	126638	broad.mit.edu	37	1	152128693	152128693	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:152128693G>A	ENST00000316073.3	-	3	946	c.882C>T	c.(880-882)caC>caT	p.H294H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	294	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGACCGTAGTGGGAACTCT	0.498																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(880-882)caC>caT		repetin							581.0	501.0	525.0					1																	152128693		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128693G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.882C>T	1.37:g.152128693G>A							p.H294H	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	946	-			294			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.882C>T	CCDS41397.1																																																																																				0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		187	548	0	0	0	1	0	187	548				
MCM3AP	8888	broad.mit.edu	37	21	47663601	47663601	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:47663601A>C	ENST00000397708.1	-	25	5328	c.5074T>G	c.(5074-5076)Tac>Gac	p.Y1692D	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y1692D|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1692	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGGAGGCGTACTGGACAACC	0.547																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5074-5076)Tac>Gac		minichromosome maintenance complex component 3 associated protein							50.0	51.0	51.0					21																	47663601		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663601A>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5074T>G	21.37:g.47663601A>C	ENSP00000380820:p.Tyr1692Asp					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y1692D|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR	p.Y1692D			O60318	MCM3A_HUMAN			25	5328	-	Breast(49;0.112)		1692					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5074T>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496751	0.64186	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.25085	1.82;1.82	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57069	-0.7874	10	0.87932	D	0	-18.0943	15.3032	0.73972	1.0:0.0:0.0:0.0	.	1692;187	O60318;B3KT88	MCM3A_HUMAN;.	D	1692;1692;187	ENSP00000380820:Y1692D;ENSP00000291688:Y1692D	ENSP00000291688:Y1692D	Y	-	1	0	MCM3AP	46488029	1.000000	0.71417	0.987000	0.45799	0.311000	0.27955	8.431000	0.90285	2.015000	0.59207	0.533000	0.62120	TAC		0.547	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		11	51	0	0	0	1	0	11	51				
ERBB2IP	55914	broad.mit.edu	37	5	65350190	65350190	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:65350190G>T	ENST00000284037.5	+	21	3433	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1011I|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1015I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1015					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGATCAGAGAGCACAGAAAAT	0.398																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3043-3045)aGc>aTc		erbb2 interacting protein							79.0	79.0	79.0					5																	65350190		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65350190G>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3044G>T	5.37:g.65350190G>T	ENSP00000284037:p.Ser1015Ile					ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1011I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1015I	p.S1015I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3433	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1015					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3044G>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930601	0.52866	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.40476	1.23;1.22;1.22;1.41;1.03;1.29;1.21;1.25;1.03	5.76	5.76	0.90799	.	0.064940	0.64402	D	0.000004	T	0.58293	0.2112	L	0.49126	1.545	0.45216	D	0.998224	D;D;P;P;P;D;D	0.67145	0.974;0.975;0.956;0.956;0.933;0.968;0.996	P;P;P;P;B;P;D	0.66196	0.687;0.489;0.489;0.489;0.307;0.745;0.942	T	0.58498	-0.7626	10	0.72032	D	0.01	.	16.2352	0.82366	0.0:0.1328:0.8672:0.0	.	1015;1015;1015;1011;1015;1015;1015	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	I	1015;1015;1015;1015;1015;1015;1011;1015;1015	ENSP00000284037:S1015I;ENSP00000370330:S1015I;ENSP00000370326:S1015I;ENSP00000370323:S1015I;ENSP00000370322:S1015I;ENSP00000370325:S1015I;ENSP00000422766:S1011I;ENSP00000426632:S1015I;ENSP00000422015:S1015I	ENSP00000284037:S1015I	S	+	2	0	ERBB2IP	65385946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.323000	0.65858	2.726000	0.93360	0.655000	0.94253	AGC		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		19	37	1	0	1.33834e-09	1	1.44815e-09	19	37				
RBM14	10432	broad.mit.edu	37	11	66392848	66392848	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:66392848G>A	ENST00000310137.4	+	2	1640	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	501	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTATGGTGCCGCAGCAGCCTA	0.622																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1501-1503)Gca>Aca		RNA binding motif protein 14							35.0	38.0	37.0					11																	66392848		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392848G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1501G>A	11.37:g.66392848G>A	ENSP00000311747:p.Ala501Thr					RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron	p.A501T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1640	+			501			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1501G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204498	0.38905	.	.	ENSG00000239306	ENST00000310137	D	0.87029	-2.2	5.75	4.83	0.62350	.	0.098166	0.44688	D	0.000422	T	0.74898	0.3777	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	B	0.34452	0.183	T	0.79004	-0.1980	10	0.87932	D	0	-0.021	12.7172	0.57121	0.0:0.1654:0.8346:0.0	.	501	Q96PK6	RBM14_HUMAN	T	501	ENSP00000311747:A501T	ENSP00000311747:A501T	A	+	1	0	RBM14	66149424	0.935000	0.31712	0.898000	0.35279	0.950000	0.60333	2.378000	0.44309	1.412000	0.46977	0.655000	0.94253	GCA		0.622	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		5	304	0	0	0	1	0	5	304				
PRB3	5544	broad.mit.edu	37	12	11422597	11422597	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:11422597G>A	ENST00000279573.7	-	1	142	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Silent_p.L3L|PRB3_ENST00000381842.3_Silent_p.L3L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	0					defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGCAGAATCAGTAGCATCTTG	0.542																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							84.0	81.0	82.0					12																	11422597		2203	4300	6503	SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11422597G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.7C>T	12.37:g.11422597G>A						PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	44	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.542	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		43	60	0	0	0	1	0	43	60				
NPHP4	261734	broad.mit.edu	37	1	5934609	5934609	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:5934609G>T	ENST00000378156.4	-	22	3418	c.3153C>A	c.(3151-3153)ctC>ctA	p.L1051L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1051					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCAGGTAGAGCTGGGGGG	0.657																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3151-3153)ctC>ctA		nephronophthisis 4							17.0	20.0	19.0					1																	5934609		2140	4221	6361	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5934609G>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3153C>A	1.37:g.5934609G>T						NPHP4_ENST00000478423.2_5'UTR	p.L1051L	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	22	3418	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1051					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.3153C>A	CCDS44052.1																																																																																				0.657	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			5	17	1	0	0.184627	1	0.185506	5	17				
C9orf3	84909	broad.mit.edu	37	9	97718211	97718211	+	Missense_Mutation	SNP	C	C	T	rs563124736		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:97718211C>T	ENST00000375315.2	+	8	1786	c.1786C>T	c.(1786-1788)Ctt>Ttt	p.L596F	C9orf3_ENST00000297979.5_Missense_Mutation_p.L497F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	596					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCTTCGGTTTCTTGCCAAAAG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19663	0.0		0.001	False		,,,				2504	0.0					ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1786-1788)Ctt>Ttt		chromosome 9 open reading frame 3							104.0	112.0	109.0					9																	97718211		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97718211C>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1786C>T	9.37:g.97718211C>T	ENSP00000364464:p.Leu596Phe					C9orf3_ENST00000297979.5_Missense_Mutation_p.L497F	p.L596F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	8	1786	+			596					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1786C>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186011	0.57909	.	.	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	T	0.36413	0.0966	M	0.87617	2.895	0.80722	D	1	D;D;D;P	0.89917	1.0;0.997;1.0;0.952	D;D;D;P	0.97110	1.0;0.956;0.999;0.818	T	0.12863	-1.0531	10	0.66056	D	0.02	-13.7684	11.8422	0.52361	0.0:0.9158:0.0:0.0842	.	15;596;497;497	E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.;AMPO_HUMAN;.;.	F	497;596;320;378;15	ENSP00000297979:L497F;ENSP00000364464:L596F;ENSP00000402171:L320F;ENSP00000401854:L378F	ENSP00000297979:L497F	L	+	1	0	C9orf3	96758032	1.000000	0.71417	0.992000	0.48379	0.743000	0.42351	2.032000	0.41127	2.814000	0.96858	0.655000	0.94253	CTT		0.373	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		39	132	0	0	0	1	0	39	132				
UBC	7316	broad.mit.edu	37	12	125397154	125397154	+	Silent	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:125397154C>G	ENST00000536769.1	-	1	2740	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L	UBC_ENST00000339647.5_Silent_p.L388L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.L312L|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	388	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTACCAGTCAGGGTCTTCA	0.527																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1162-1164)ctG>ctC		ubiquitin C							214.0	197.0	203.0					12																	125397154		2203	4296	6499	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397154C>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1164G>C	12.37:g.125397154C>G						UBC_ENST00000546120.1_Silent_p.L312L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L388L	p.L388L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2740	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		388			Ubiquitin-like 6.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1164G>C	CCDS9260.1																																																																																				0.527	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		13	298	0	0	0	1	0	13	298				
COL22A1	169044	broad.mit.edu	37	8	139611102	139611102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:139611102C>A	ENST00000303045.6	-	61	4671	c.4225G>T	c.(4225-4227)Gga>Tga	p.G1409*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1389*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1409	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCTTTTCCACCAGGAGGT	0.577										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4225-4227)Gga>Tga		collagen, type XXII, alpha 1							57.0	54.0	55.0					8																	139611102		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611102C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4225G>T	8.37:g.139611102C>A	ENSP00000303153:p.Gly1409*	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1389*	p.G1409*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4671	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1409			Collagen-like 14.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.4225G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	47	13.246964	0.99730	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.61	4.69	0.59074	.	0.767301	0.10869	U	0.625153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.0927	0.89479	0.0:0.8252:0.1747:0.0	.	.	.	.	X	1409;1389;1102	.	ENSP00000303153:G1409X	G	-	1	0	COL22A1	139680284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.827000	0.55745	2.638000	0.89438	0.650000	0.86243	GGA		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		17	73	1	0	1.99824e-07	1	2.12943e-07	17	73				
PCCA	5095	broad.mit.edu	37	13	100962097	100962097	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:100962097A>G	ENST00000376285.1	+	16	1402	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C	PCCA_ENST00000376279.3_Missense_Mutation_p.Y455C|PCCA_ENST00000376286.4_Missense_Mutation_p.Y429C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	455	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CTAATCACATATGGCTCTGAT	0.289																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1363-1365)tAt>tGt		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						109.0	104.0	105.0					13																	100962097		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100962097A>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1364A>G	13.37:g.100962097A>G	ENSP00000365462:p.Tyr455Cys					PCCA_ENST00000376279.3_Missense_Mutation_p.Y455C|PCCA_ENST00000376286.4_Missense_Mutation_p.Y429C	p.Y455C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			16	1402	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		455			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.1364A>G	CCDS9496.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.07|18.07	3.542152|3.542152	0.65198|0.65198	.|.	.|.	ENSG00000175198|ENSG00000175198	ENST00000443601|ENST00000376286;ENST00000376279;ENST00000376285;ENST00000376254	.|D;D;D	.|0.81659	.|-1.52;-1.52;-1.52	5.61|5.61	4.4|4.4	0.53042|0.53042	.|Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	.|0.182824	.|0.49916	.|D	.|0.000133	D|D	0.89441|0.89441	0.6716|0.6716	M|M	0.82433|0.82433	2.59|2.59	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.76071	.|0.987;0.978;0.987	D|D	0.90125|0.90125	0.4202|0.4202	5|10	.|0.87932	.|D	.|0	.|.	12.7448|12.7448	0.57276|0.57276	0.8628:0.1372:0.0:0.0|0.8628:0.1372:0.0:0.0	.|.	.|455;429;455	.|C9JPQ8;P05165-2;P05165	.|.;.;PCCA_HUMAN	V|C	47|429;455;455;46	.|ENSP00000365463:Y429C;ENSP00000365456:Y455C;ENSP00000365462:Y455C	.|ENSP00000365430:Y46C	M|Y	+|+	1|2	0|0	PCCA|PCCA	99760098|99760098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	6.175000|6.175000	0.71949|0.71949	0.919000|0.919000	0.36945|0.36945	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.289	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			20	51	0	0	0	1	0	20	51				
LAMA2	3908	broad.mit.edu	37	6	129835643	129835643	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:129835643G>A	ENST00000421865.2	+	64	9163	c.9114G>A	c.(9112-9114)gaG>gaA	p.E3038E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3038	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCGCATTGAGCTCACAGTCG	0.517																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9112-9114)gaG>gaA		laminin, alpha 2							190.0	151.0	164.0					6																	129835643		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129835643G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9114G>A	6.37:g.129835643G>A							p.E3038E	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	64	9163	+			3038			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.9114G>A	CCDS5138.1																																																																																				0.517	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	107	0	0	0	1	0	13	107				
ANKRD13D	338692	broad.mit.edu	37	11	67069049	67069049	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:67069049G>T	ENST00000447274.2	+	13	2353	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R130L|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R480L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R393L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R393L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	393						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCCCCTCCGGGACGAGGAC	0.657																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1177-1179)cGg>cTg		ankyrin repeat domain 13 family, member D							51.0	52.0	52.0					11																	67069049		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67069049G>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1178G>T	11.37:g.67069049G>T	ENSP00000402616:p.Arg393Leu					ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R130L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R393L|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R480L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R393L	p.R393L			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	2353	+			393					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.1178G>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.634284	0.87660	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.49139	1.41;1.59;1.41;1.41;0.79	4.71	4.71	0.59529	.	0.152218	0.40908	D	0.000997	T	0.64136	0.2571	M	0.62723	1.935	0.80722	D	1	D;D;B	0.89917	0.997;1.0;0.123	D;D;B	0.78314	0.986;0.991;0.051	T	0.58538	-0.7619	10	0.17369	T	0.5	-6.6235	17.4492	0.87587	0.0:0.0:1.0:0.0	.	130;480;393	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	L	393;480;393;393;130	ENSP00000402616:R393L;ENSP00000427130:R480L;ENSP00000310874:R393L;ENSP00000444404:R393L;ENSP00000443977:R130L	ENSP00000310874:R393L	R	+	2	0	ANKRD13D	66825625	1.000000	0.71417	0.041000	0.18516	0.706000	0.40770	5.553000	0.67287	2.440000	0.82611	0.561000	0.74099	CGG		0.657	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		5	236	1	0	0.014758	1	0.0149708	5	236				
LGI1	9211	broad.mit.edu	37	10	95557169	95557169	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:95557169A>G	ENST00000371418.4	+	8	1543	c.1283A>G	c.(1282-1284)aAc>aGc	p.N428S	LGI1_ENST00000542308.1_Missense_Mutation_p.N380S|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	428					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GACATTCCTAACATGGAGGAT	0.413																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1282-1284)aAc>aGc		leucine-rich, glioma inactivated 1							123.0	113.0	117.0					10																	95557169		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557169A>G	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1283A>G	10.37:g.95557169A>G	ENSP00000360472:p.Asn428Ser					LGI1_ENST00000542308.1_Missense_Mutation_p.N380S|LGI1_ENST00000371413.3_Intron	p.N428S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1543	+		Colorectal(252;0.124)	428					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1283A>G	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214468	0.39102	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.89681	-2.55;-2.55	5.17	5.17	0.71159	.	0.144280	0.64402	D	0.000011	D	0.84032	0.5383	L	0.32530	0.975	0.46874	D	0.999233	B;B	0.22604	0.072;0.016	B;B	0.19666	0.014;0.026	T	0.81331	-0.0981	10	0.52906	T	0.07	-14.8102	15.1922	0.73053	1.0:0.0:0.0:0.0	.	380;428	O95970-3;O95970	.;LGI1_HUMAN	S	380;428	ENSP00000440763:N380S;ENSP00000360472:N428S	ENSP00000360472:N428S	N	+	2	0	LGI1	95547159	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.139000	0.94554	2.168000	0.68352	0.533000	0.62120	AAC		0.413	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		11	105	0	0	0	1	0	11	105				
LIFR	3977	broad.mit.edu	37	5	38523656	38523656	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:38523656C>G	ENST00000263409.4	-	5	588	c.426G>C	c.(424-426)ttG>ttC	p.L142F	LIFR_ENST00000453190.2_Missense_Mutation_p.L142F|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	142					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)					CAGACAAATTCAAGATCTCTG	0.343			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				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						c.(424-426)ttG>ttC		leukemia inhibitory factor receptor alpha							71.0	77.0	75.0					5																	38523656		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.chr5:38523656C>G	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.426G>C	5.37:g.38523656C>G	ENSP00000263409:p.Leu142Phe					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L142F	p.L142F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			5	588	-	all_lung(31;0.00021)		142					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.426G>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137150	0.37728	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.64991	-0.13;-0.13	5.38	1.37	0.22104	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.113020	0.06659	N	0.764120	T	0.58821	0.2149	M	0.74258	2.255	0.37127	D	0.901071	B	0.29432	0.244	B	0.21708	0.036	T	0.61118	-0.7127	10	0.72032	D	0.01	-6.2897	5.0104	0.14310	0.149:0.5926:0.0:0.2584	.	142	P42702	LIFR_HUMAN	F	142	ENSP00000263409:L142F;ENSP00000398368:L142F	ENSP00000263409:L142F	L	-	3	2	LIFR	38559413	0.670000	0.27512	0.989000	0.46669	0.963000	0.63663	0.174000	0.16743	0.619000	0.30197	-0.137000	0.14449	TTG		0.343	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		62	109	0	0	0	1	0	62	109				
GAD1	2571	broad.mit.edu	37	2	171693381	171693381	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:171693381C>T	ENST00000358196.3	+	6	1176	c.626C>T	c.(625-627)gCc>gTc	p.A209V	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.A209V|GAD1_ENST00000344257.5_Missense_Mutation_p.A209V	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	209					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ACATCAACGGCCAATACCAAC	0.403																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(625-627)gCc>gTc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						110.0	90.0	97.0					2																	171693381		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171693381C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.626C>T	2.37:g.171693381C>T	ENSP00000350928:p.Ala209Val					GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.A209V|GAD1_ENST00000344257.5_Missense_Mutation_p.A209V	p.A209V	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			6	1176	+			209					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.626C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876105	0.91664	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.36699	1.24;1.24;1.24	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	L	0.33668	1.02	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.98;0.964	T	0.47235	-0.9133	10	0.48119	T	0.1	-15.8026	19.588	0.95497	0.0:1.0:0.0:0.0	.	209;209	Q99259;Q99259-3	DCE1_HUMAN;.	V	209	ENSP00000350928:A209V;ENSP00000364421:A209V;ENSP00000341167:A209V	ENSP00000341167:A209V	A	+	2	0	GAD1	171401627	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.445000	0.80570	2.643000	0.89663	0.551000	0.68910	GCC		0.403	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			39	79	0	0	0	1	0	39	79				
ZNF679	168417	broad.mit.edu	37	7	63726627	63726627	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:63726627C>G	ENST00000421025.1	+	5	885	c.616C>G	c.(616-618)Cat>Gat	p.H206D	ZNF679_ENST00000255746.4_Missense_Mutation_p.H206D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCAGATAATTCATACTAGGGA	0.348																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(616-618)Cat>Gat		zinc finger protein 679							57.0	56.0	56.0					7																	63726627		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726627C>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.616C>G	7.37:g.63726627C>G	ENSP00000416809:p.His206Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.H206D	p.H206D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	885	+			206						Missense_Mutation	SNP	ENST00000421025.1	37	c.616C>G	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581139	0.28180	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	D;D	0.88975	-2.45;-2.45	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91026	0.7177	H	0.96604	3.85	0.33837	D	0.630947	B	0.32693	0.38	B	0.32211	0.142	D	0.89790	0.3967	9	0.66056	D	0.02	.	6.9957	0.24780	0.0:1.0:0.0:0.0	.	206	Q8IYX0	ZN679_HUMAN	D	206	ENSP00000416809:H206D;ENSP00000255746:H206D	ENSP00000255746:H206D	H	+	1	0	ZNF679	63364062	0.427000	0.25514	0.118000	0.21660	0.118000	0.20060	1.792000	0.38754	0.191000	0.20236	0.194000	0.17425	CAT		0.348	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		4	9	0	0	0	1	0	4	9				
EPS8L1	54869	broad.mit.edu	37	19	55593237	55593237	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:55593237G>A	ENST00000201647.6	+	9	927	c.871G>A	c.(871-873)Ggc>Agc	p.G291S	EPS8L1_ENST00000540810.1_Missense_Mutation_p.G227S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.G273S|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.G164S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	291					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGGGAACGCGGCCGCAGGAG	0.672																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(871-873)Ggc>Agc		EPS8-like 1							10.0	14.0	12.0					19																	55593237		2168	4244	6412	SO:0001583	missense	54869					cytoplasm		g.chr19:55593237G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.871G>A	19.37:g.55593237G>A	ENSP00000201647:p.Gly291Ser					EPS8L1_ENST00000245618.5_Missense_Mutation_p.G164S|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Missense_Mutation_p.G273S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.G227S|EPS8L1_ENST00000592824.1_3'UTR	p.G291S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	9	927	+			291					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.871G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	1.440	-0.567835	0.03910	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.39229	1.09;1.09;1.09	3.81	2.75	0.32379	.	0.245399	0.33959	N	0.004383	T	0.18215	0.0437	N	0.13168	0.305	0.80722	D	1	B;B;B;B	0.22983	0.034;0.078;0.068;0.026	B;B;B;B	0.13407	0.003;0.009;0.009;0.003	T	0.06023	-1.0850	10	0.08837	T	0.75	-16.7964	4.4722	0.11717	0.1261:0.0:0.6572:0.2167	.	227;273;164;291	B4DKV7;Q8TE68-3;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	S	273;291;227;164	ENSP00000201647:G291S;ENSP00000437541:G227S;ENSP00000245618:G164S	ENSP00000201647:G291S	G	+	1	0	EPS8L1	60285049	0.839000	0.29477	0.881000	0.34555	0.370000	0.29829	1.211000	0.32382	0.696000	0.31696	0.313000	0.20887	GGC		0.672	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		10	25	0	0	0	1	0	10	25				
PIKFYVE	200576	broad.mit.edu	37	2	209188978	209188978	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:209188978G>T	ENST00000264380.4	+	18	2461	c.2303G>T	c.(2302-2304)gGc>gTc	p.G768V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	768					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGGAACATGGCATTACTTTG	0.348																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2302-2304)gGc>gTc		phosphoinositide kinase, FYVE finger containing							167.0	156.0	159.0					2																	209188978		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209188978G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2303G>T	2.37:g.209188978G>T	ENSP00000264380:p.Gly768Val						p.G768V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			18	2461	+			768					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2303G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874685	0.91664	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.72167	-0.63;-0.63	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88765	0.3260	10	0.87932	D	0	-15.8592	18.4332	0.90634	0.0:0.0:1.0:0.0	.	768;712	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	768;344;712	ENSP00000264380:G768V;ENSP00000405736:G712V	ENSP00000264380:G768V	G	+	2	0	PIKFYVE	208897223	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.788000	0.95919	0.557000	0.71058	GGC		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		59	160	1	0	4.09106e-26	1	4.66602e-26	59	160				
LCA5L	150082	broad.mit.edu	37	21	40778134	40778134	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:40778134C>T	ENST00000358268.2	-	10	2215	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	LCA5L_ENST00000288350.3_Missense_Mutation_p.E563K|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000380671.2_Missense_Mutation_p.E563K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	563										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TCCATTTCCTCTCTGTTACTG	0.463																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(1687-1689)Gag>Aag		Leber congenital amaurosis 5-like							133.0	127.0	129.0					21																	40778134		2203	4300	6503	SO:0001583	missense	150082							g.chr21:40778134C>T	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1687G>A	21.37:g.40778134C>T	ENSP00000351008:p.Glu563Lys					LCA5L_ENST00000380671.2_Missense_Mutation_p.E563K|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.E563K	p.E563K			O95447	LCA5L_HUMAN			10	2215	-		Prostate(19;1.2e-06)	563					D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	c.1687G>A	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	2.440	-0.328901	0.05314	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.56444	0.46;0.46;0.46	2.99	-0.713	0.11223	.	2.116450	0.02245	N	0.066165	T	0.43389	0.1245	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.14476	-1.0471	10	0.26408	T	0.33	0.1699	7.5258	0.27653	0.0:0.4453:0.4539:0.1008	.	563	O95447	LCA5L_HUMAN	K	563	ENSP00000288350:E563K;ENSP00000370046:E563K;ENSP00000351008:E563K	ENSP00000288350:E563K	E	-	1	0	LCA5L	39700004	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.650000	0.05378	-0.136000	0.11475	0.655000	0.94253	GAG		0.463	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		13	107	0	0	0	1	0	13	107				
FOCAD	54914	broad.mit.edu	37	9	20929552	20929552	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:20929552G>T	ENST00000380249.1	+	29	3638	c.3274G>T	c.(3274-3276)Gct>Tct	p.A1092S	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1092S|FOCAD_ENST00000605086.1_Missense_Mutation_p.A528S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1092						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CATGGGCCTTGCTTTAGGGAT	0.423																																						ENST00000380249.1																			0											c.(3274-3276)Gct>Tct		focadhesin							129.0	102.0	111.0					9																	20929552		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20929552G>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3274G>T	9.37:g.20929552G>T	ENSP00000369599:p.Ala1092Ser					FOCAD_ENST00000605086.1_Missense_Mutation_p.A528S|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1092S	p.A1092S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			29	3638	+			1092					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3274G>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462030	0.84425	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.74209	-0.82;-0.82	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	P	0.55923	0.787	T	0.80728	-0.1253	10	0.40728	T	0.16	-38.0457	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1092	Q5VW36	K1797_HUMAN	S	1092	ENSP00000369599:A1092S;ENSP00000344307:A1092S	ENSP00000344307:A1092S	A	+	1	0	KIAA1797	20919552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.161000	0.94739	2.879000	0.98667	0.650000	0.86243	GCT		0.423	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		36	88	1	0	5.04308e-16	1	5.66005e-16	36	88				
COL18A1	80781	broad.mit.edu	37	21	46930061	46930061	+	Silent	SNP	G	G	A	rs372559352		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:46930061G>A	ENST00000359759.4	+	39	4845	c.4824G>A	c.(4822-4824)gcG>gcA	p.A1608A	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000400337.2_Silent_p.A1193A|COL18A1_ENST00000355480.5_Silent_p.A1373A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1608	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCAGCAGGCGCGGGCCGTGG	0.736													G|||	1	0.000199681	0.0	0.0	5008	,	,		11199	0.0		0.001	False		,,,				2504	0.0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4822-4824)gcG>gcA		collagen, type XVIII, alpha 1		G	,	1,3707		0,1,1853	5.0	8.0	7.0		4119,3579	-4.8	0.9	21		7	0,7894		0,0,3947	no	coding-synonymous,coding-synonymous	COL18A1	NM_030582.3,NM_130445.2	,	0,1,5800	AA,AG,GG		0.0,0.027,0.0086	,	1373/1520,1193/1340	46930061	1,11601	1854	3947	5801	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46930061G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4824G>A	21.37:g.46930061G>A						COL18A1_ENST00000400337.2_Silent_p.A1193A|COL18A1_ENST00000355480.5_Silent_p.A1373A|SLC19A1_ENST00000567670.1_Intron	p.A1608A			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	39	4845	+			1608			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.4824G>A		.	.	.	.	.	.	.	.	.	.	G	5.446	0.267480	0.10294	2.7E-4	0.0	ENSG00000182871	ENST00000423214	.	.	.	4.32	-4.82	0.03171	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40627	-0.9553	4	.	.	.	.	3.005	0.06026	0.2529:0.3284:0.3246:0.0941	.	.	.	.	H	178	.	.	R	+	2	0	COL18A1	45754489	0.026000	0.19158	0.854000	0.33618	0.304000	0.27724	-0.846000	0.04336	-0.533000	0.06323	-1.728000	0.00702	CGC		0.736	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			7	8	0	0	0	1	0	7	8				
TBX22	50945	broad.mit.edu	37	X	79281235	79281235	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:79281235C>A	ENST00000373294.5	+	4	620	c.592C>A	c.(592-594)Cgc>Agc	p.R198S	TBX22_ENST00000373291.1_Missense_Mutation_p.R78S|TBX22_ENST00000373296.3_Missense_Mutation_p.R198S|TBX22_ENST00000442340.1_Missense_Mutation_p.R78S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	198					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(232-234)Cgc>Agc		T-box 22							107.0	69.0	82.0					X																	79281235		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281235C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.592C>A	X.37:g.79281235C>A	ENSP00000362390:p.Arg198Ser					TBX22_ENST00000373294.5_Missense_Mutation_p.R198S|TBX22_ENST00000373291.1_Missense_Mutation_p.R78S|TBX22_ENST00000373296.3_Missense_Mutation_p.R198S	p.R78S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			5	722	+			198					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.232C>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283558	0.59867	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.77	3.89	0.44902	p53-like transcription factor, DNA-binding (1);	0.065520	0.56097	D	0.000023	D	0.93161	0.7822	M	0.73598	2.24	0.51767	D	0.999932	D	0.89917	1.0	D	0.91635	0.999	D	0.92671	0.6150	10	0.87932	D	0	.	10.4056	0.44254	0.354:0.6459:0.0:0.0	.	198	Q9Y458	TBX22_HUMAN	S	198;78;198;78	ENSP00000362393:R198S;ENSP00000396394:R78S;ENSP00000362390:R198S;ENSP00000362388:R78S	ENSP00000362388:R78S	R	+	1	0	TBX22	79167891	0.962000	0.33011	0.136000	0.22124	0.698000	0.40448	0.173000	0.16724	0.779000	0.33543	0.600000	0.82982	CGC		0.527	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		10	12	1	0	0.000442599	1	0.000457787	10	12				
PAX5	5079	broad.mit.edu	37	9	36882055	36882055	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:36882055G>C	ENST00000358127.4	-	8	1032	c.958C>G	c.(958-960)Ccc>Gcc	p.P320A	PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.P212A|PAX5_ENST00000520281.1_Missense_Mutation_p.P277A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P320A|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P277A	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	320					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCAGCGGGGGGGACGTGTGGA	0.647			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	22	Unknown(22)	p.?(22)	haematopoietic_and_lymphoid_tissue(22)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(958-960)Ccc>Gcc		paired box 5							50.0	45.0	47.0					9																	36882055		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36882055G>C		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.958C>G	9.37:g.36882055G>C	ENSP00000350844:p.Pro320Ala					PAX5_ENST00000522003.1_Missense_Mutation_p.P212A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P277A|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P320A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P277A|PAX5_ENST00000523145.1_Intron	p.P320A	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	8	1032	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	320					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.958C>G	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974854	0.92919	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000520281;ENST00000522003;ENST00000414447;ENST00000524340	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.97	5.97	0.96955	.	0.052202	0.85682	D	0.000000	T	0.75376	0.3841	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.997;0.997	D;D;D;D;D	0.87578	0.989;0.998;0.996;0.989;0.989	T	0.74349	-0.3694	10	0.51188	T	0.08	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	277;277;147;320;320	C0KTF8;C0KTF7;C0KTE2;Q6S730;Q02548	.;.;.;.;PAX5_HUMAN	A	320;231;320;277;212;277;147	ENSP00000350844:P320A;ENSP00000367084:P320A;ENSP00000430773:P277A;ENSP00000429359:P212A;ENSP00000412188:P277A;ENSP00000429404:P147A	ENSP00000350844:P320A	P	-	1	0	PAX5	36872055	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.388000	0.97237	2.837000	0.97791	0.655000	0.94253	CCC		0.647	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			13	17	0	0	0	1	0	13	17				
CFTR	1080	broad.mit.edu	37	7	117149100	117149100	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:117149100A>G	ENST00000003084.6	+	3	309	c.177A>G	c.(175-177)agA>agG	p.R59R	CFTR_ENST00000454343.1_Silent_p.R59R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	59					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AATGGGATAGAGAGCTGGCTT	0.343									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(175-177)agA>agG		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						120.0	130.0	127.0					7																	117149100		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117149100A>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.177A>G	7.37:g.117149100A>G						CFTR_ENST00000454343.1_Silent_p.R59R	p.R59R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		3	309	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		59					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.177A>G	CCDS5773.1																																																																																				0.343	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		5	155	0	0	0	1	0	5	155				
CPO	130749	broad.mit.edu	37	2	207825638	207825638	+	Silent	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:207825638C>A	ENST00000272852.3	+	6	592	c.546C>A	c.(544-546)ctC>ctA	p.L182L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	182						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GGACGGATCTCAATCGAAATT	0.388																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(544-546)ctC>ctA		carboxypeptidase O							224.0	200.0	208.0					2																	207825638		2203	4300	6503	SO:0001819	synonymous_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207825638C>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.546C>A	2.37:g.207825638C>A							p.L182L	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	6	592	+			182					Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	c.546C>A	CCDS2372.1																																																																																				0.388	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		52	180	1	0	3.84483e-29	1	4.40902e-29	52	180				
TYRO3	7301	broad.mit.edu	37	15	41870397	41870397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:41870397C>T	ENST00000263798.3	+	19	2820	c.2596C>T	c.(2596-2598)Cag>Tag	p.Q866*	TYRO3_ENST00000559066.1_Nonsense_Mutation_p.Q821*	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	866					apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCAGAGCACCAGCCAGAGAG	0.632																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(2596-2598)Cag>Tag		TYRO3 protein tyrosine kinase							26.0	31.0	29.0					15																	41870397		2198	4290	6488	SO:0001587	stop_gained	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41870397C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2596C>T	15.37:g.41870397C>T	ENSP00000263798:p.Gln866*					TYRO3_ENST00000559066.1_Nonsense_Mutation_p.Q821*	p.Q866*	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	19	2820	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	866					O14953|Q86VR3	Nonsense_Mutation	SNP	ENST00000263798.3	37	c.2596C>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	39	7.665287	0.98422	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.94	5.94	0.96194	.	0.000000	0.40302	N	0.001134	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8554	13.5527	0.61740	0.0:0.9293:0.0:0.0707	.	.	.	.	X	798;866	.	ENSP00000263798:Q866X	Q	+	1	0	TYRO3	39657689	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	1.713000	0.37951	2.820000	0.97059	0.650000	0.86243	CAG		0.632	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			12	61	0	0	0	1	0	12	61				
DHODH	1723	broad.mit.edu	37	16	72048493	72048493	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:72048493G>A	ENST00000219240.4	+	3	377	c.356G>A	c.(355-357)aGt>aAt	p.S119N	DHODH_ENST00000572887.1_Missense_Mutation_p.S119N|DHODH_ENST00000573922.1_3'UTR	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	119					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GAGATAGGAAGTGTGACTCCA	0.493																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(355-357)aGt>aAt		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						101.0	101.0	101.0					16																	72048493		1891	4116	6007	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72048493G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.356G>A	16.37:g.72048493G>A	ENSP00000219240:p.Ser119Asn					DHODH_ENST00000219240.4_Missense_Mutation_p.S119N|DHODH_ENST00000573922.1_3'UTR	p.S119N			Q02127	PYRD_HUMAN			3	533	+		Ovarian(137;0.125)	119					A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.356G>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175561	0.38413	.	.	ENSG00000102967	ENST00000219240	D	0.87809	-2.3	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Dihydroorotate dehydrogenase, conserved site (1);	0.129759	0.64402	D	0.000001	D	0.94604	0.8261	M	0.94021	3.485	0.54753	D	0.999981	D	0.54772	0.968	D	0.64506	0.926	D	0.95635	0.8693	10	0.87932	D	0	-13.2791	14.3306	0.66553	0.0:0.1601:0.8399:0.0	.	119	Q02127	PYRD_HUMAN	N	119	ENSP00000219240:S119N	ENSP00000219240:S119N	S	+	2	0	DHODH	70605994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.269000	0.65542	2.472000	0.83506	0.561000	0.74099	AGT		0.493	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		19	55	0	0	0	1	0	19	55				
XIRP2	129446	broad.mit.edu	37	2	168102545	168102545	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:168102545T>C	ENST00000409195.1	+	9	4732	c.4643T>C	c.(4642-4644)aTt>aCt	p.I1548T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1548T|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1326T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1373					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGAAATTATTGGCAAGAGC	0.368																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4642-4644)aTt>aCt		xin actin-binding repeat containing 2							58.0	54.0	55.0					2																	168102545		1807	4076	5883	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102545T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4643T>C	2.37:g.168102545T>C	ENSP00000386840:p.Ile1548Thr					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1548T|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1326T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.I1548T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4732	+			1373					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4643T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070011	0.36566	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02974	4.09;4.09;4.09	5.56	5.56	0.83823	.	0.053058	0.64402	D	0.000001	T	0.07683	0.0193	M	0.69823	2.125	0.53005	D	0.999964	P;P;P	0.50369	0.891;0.934;0.836	B;P;B	0.47864	0.356;0.559;0.44	T	0.36696	-0.9737	10	0.28530	T	0.3	-17.9275	14.6939	0.69107	0.0:0.0:0.0:1.0	.	1373;1373;1326	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1548;1548;1326	ENSP00000386840:I1548T;ENSP00000295237:I1548T;ENSP00000387255:I1326T	ENSP00000295237:I1548T	I	+	2	0	XIRP2	167810791	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	6.043000	0.71004	2.122000	0.65172	0.460000	0.39030	ATT		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	112	0	0	0	1	0	9	112				
MTG2	26164	broad.mit.edu	37	20	60776031	60776031	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:60776031G>A	ENST00000370823.3	+	7	1137	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	MTG2_ENST00000436421.2_Silent_p.L215L|MTG2_ENST00000536470.1_Silent_p.L145L	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	373	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TGTCGGCGTTGACCGGCGAGA	0.627																																						ENST00000370823.3																			0											c.(1117-1119)ttG>ttA		mitochondrial ribosome-associated GTPase 2							49.0	47.0	48.0					20																	60776031		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60776031G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.1119G>A	20.37:g.60776031G>A						MTG2_ENST00000436421.2_Silent_p.L215L|MTG2_ENST00000536470.1_Silent_p.L145L	p.L373L	NM_015666.3	NP_056481.1					7	1137	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.1119G>A	CCDS13492.1																																																																																				0.627	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		8	79	0	0	0	1	0	8	79				
KLHL23	151230	broad.mit.edu	37	2	170598008	170598008	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:170598008A>G	ENST00000392647.2	+	3	1571	c.1327A>G	c.(1327-1329)Atc>Gtc	p.I443V	KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Missense_Mutation_p.I443V	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	443										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAATTCCGATATCAACGAATG	0.428																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1327-1329)Atc>Gtc		kelch-like family member 23							170.0	145.0	154.0					2																	170598008		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170598008A>G	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1327A>G	2.37:g.170598008A>G	ENSP00000376419:p.Ile443Val					KLHL23_ENST00000272797.4_Missense_Mutation_p.I443V|KLHL23_ENST00000602521.1_5'UTR	p.I443V	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			3	1571	+			443					Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1327A>G	CCDS2236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.258|1.258	-0.616521|-0.616521	0.03663|0.03663	.|.	.|.	ENSG00000213160|ENSG00000213160	ENST00000448589|ENST00000272797;ENST00000392647;ENST00000437875	.|T;T;T	.|0.77358	.|-1.09;-1.09;-1.09	5.77|5.77	5.77|5.77	0.91146|0.91146	.|Kelch-type beta propeller (1);	0.317898|0.317898	0.34460|0.34460	N|N	0.003945|0.003945	T|T	0.62889|0.62889	0.2465|0.2465	N|N	0.17379|0.17379	0.485|0.485	.|0.28048	.|N	.|0.93348	.|B	.|0.09022	.|0.002	.|B	.|0.18263	.|0.021	T|T	0.66528|0.66528	-0.5901|-0.5901	5|9	.|0.36615	.|T	.|0.2	.|.	10.4357|10.4357	0.44435|0.44435	0.9277:0.0:0.0723:0.0|0.9277:0.0:0.0723:0.0	.|.	.|443	.|Q8NBE8	.|KLH23_HUMAN	M|V	2|443;443;264	.|ENSP00000272797:I443V;ENSP00000376419:I443V;ENSP00000394732:I264V	.|ENSP00000272797:I443V	I|I	+|+	3|1	3|0	KLHL23|KLHL23	170306254|170306254	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.829000|0.829000	0.46940|0.46940	2.452000|2.452000	0.44961|0.44961	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	ATA|ATC		0.428	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		37	133	0	0	0	1	0	37	133				
ATP10D	57205	broad.mit.edu	37	4	47559834	47559834	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:47559834C>T	ENST00000273859.3	+	12	2247	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	660					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGAGCAGACTCCCTCTCTT	0.517																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1978-1980)Ctc>Ttc		ATPase, class V, type 10D							81.0	86.0	85.0					4																	47559834		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559834C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1978C>T	4.37:g.47559834C>T	ENSP00000273859:p.Leu660Phe					AC092597.3_ENST00000508081.1_RNA	p.L660F	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2247	+			660					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1978C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003787	0.19199	.	.	ENSG00000145246	ENST00000273859	T	0.39592	1.07	4.95	3.12	0.35913	HAD-like domain (1);	0.247869	0.37437	N	0.002091	T	0.46678	0.1405	L	0.47716	1.5	0.80722	D	1	P	0.46064	0.872	P	0.58454	0.839	T	0.33727	-0.9857	10	0.09590	T	0.72	-7.9188	10.323	0.43777	0.1574:0.7005:0.1421:0.0	.	660	Q9P241	AT10D_HUMAN	F	660	ENSP00000273859:L660F	ENSP00000273859:L660F	L	+	1	0	ATP10D	47254591	1.000000	0.71417	0.986000	0.45419	0.148000	0.21650	1.484000	0.35508	0.604000	0.29930	0.561000	0.74099	CTC		0.517	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		29	108	0	0	0	1	0	29	108				
HEXIM2	124790	broad.mit.edu	37	17	43246481	43246481	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:43246481G>A	ENST00000307275.3	+	4	602	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	HEXIM2_ENST00000591576.1_Missense_Mutation_p.E56K|RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E56K	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	56					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CTCAGAGGATGAAGATCTTGC	0.672																																						ENST00000307275.3																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(166-168)Gaa>Aaa		hexamethylene bis-acetamide inducible 2							84.0	94.0	91.0					17																	43246481		2203	4300	6503	SO:0001583	missense	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246481G>A	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.166G>A	17.37:g.43246481G>A	ENSP00000302276:p.Glu56Lys					RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E56K|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E56K	p.E56K	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN			4	602	+			56					D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	c.166G>A	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799741	0.50208	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.98	2.81	0.32909	.	0.416166	0.26052	N	0.026628	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.08911	-1.0699	9	0.31617	T	0.26	-10.1869	4.5837	0.12271	0.1144:0.0:0.6651:0.2204	.	56	Q96MH2	HEXI2_HUMAN	K	56	.	ENSP00000302276:E56K	E	+	1	0	HEXIM2	40602264	1.000000	0.71417	0.527000	0.27925	0.945000	0.59286	1.430000	0.34914	1.281000	0.44480	0.561000	0.74099	GAA		0.672	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		52	150	0	0	0	1	0	52	150				
ZKSCAN8	7745	broad.mit.edu	37	6	28121663	28121663	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:28121663A>G	ENST00000330236.6	+	6	1789	c.1605A>G	c.(1603-1605)caA>caG	p.Q535Q	ZKSCAN8_ENST00000457389.2_Silent_p.Q535Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	535					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)										GTCTCATTCAACACCTGAGAA	0.433																																						ENST00000330236.6																			0											c.(1603-1605)caA>caG		zinc finger with KRAB and SCAN domains 8							80.0	79.0	79.0					6																	28121663		2203	4300	6503	SO:0001819	synonymous_variant	7745							g.chr6:28121663A>G		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1605A>G	6.37:g.28121663A>G						ZKSCAN8_ENST00000457389.2_Silent_p.Q535Q	p.Q535Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					6	1789	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	ENST00000330236.6	37	c.1605A>G	CCDS4645.1																																																																																				0.433	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			9	89	0	0	0	1	0	9	89				
ENOSF1	55556	broad.mit.edu	37	18	688598	688598	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr18:688598T>C	ENST00000251101.7	-	9	717	c.629A>G	c.(628-630)cAg>cGg	p.Q210R	ENOSF1_ENST00000340116.7_Missense_Mutation_p.Q231R|ENOSF1_ENST00000383578.3_Missense_Mutation_p.Q128R|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Q134R|ENOSF1_ENST00000319815.6_5'Flank|ENOSF1_ENST00000583973.1_5'Flank	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	210					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CTTCAGCGCCTGGGCACAGAG	0.562																																						ENST00000383578.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(382-384)cAg>cGg		enolase superfamily member 1							101.0	79.0	86.0					18																	688598		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:688598T>C	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.629A>G	18.37:g.688598T>C	ENSP00000251101:p.Gln210Arg					ENOSF1_ENST00000340116.7_Missense_Mutation_p.Q231R|ENOSF1_ENST00000251101.7_Missense_Mutation_p.Q210R|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Q134R	p.Q128R	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN			8	587	-			210					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.383A>G	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	T	8.596	0.885685	0.17540	.	.	ENSG00000132199	ENST00000383578;ENST00000251101;ENST00000340116	T;T;T	0.39592	1.07;1.07;1.07	5.56	3.27	0.37495	Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.466822	0.26539	N	0.023801	T	0.23014	0.0556	N	0.14661	0.345	0.23879	N	0.996583	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.001	T	0.14699	-1.0463	10	0.31617	T	0.26	.	7.668	0.28443	0.0:0.0795:0.1688:0.7517	.	231;29;255;210;128	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	R	128;210;231	ENSP00000373072:Q128R;ENSP00000251101:Q210R;ENSP00000345974:Q231R	ENSP00000251101:Q210R	Q	-	2	0	ENOSF1	678598	0.110000	0.22057	0.002000	0.10522	0.049000	0.14656	2.386000	0.44380	0.532000	0.28657	0.528000	0.53228	CAG		0.562	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		3	43	0	0	0	1	0	3	43				
GPR139	124274	broad.mit.edu	37	16	20043419	20043419	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:20043419T>C	ENST00000570682.1	-	2	1000	c.700A>G	c.(700-702)Acc>Gcc	p.T234A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	234					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGATGGAGGTAATGGTGAAC	0.522																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(700-702)Acc>Gcc		G protein-coupled receptor 139							83.0	89.0	87.0					16																	20043419		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043419T>C	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.700A>G	16.37:g.20043419T>C	ENSP00000458791:p.Thr234Ala						p.T234A	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1000	-			234					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.700A>G	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890782	0.72524	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.47190	1.495	0.58432	D	0.999997	D	0.69078	0.997	D	0.68353	0.957	T	0.70641	-0.4816	9	0.54805	T	0.06	-63.2106	14.9917	0.71393	0.0:0.0:0.0:1.0	.	234	Q6DWJ6	GP139_HUMAN	A	234	.	ENSP00000370779:T234A	T	-	1	0	GPR139	19950920	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.694000	0.84235	2.130000	0.65690	0.533000	0.62120	ACC		0.522	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		30	97	0	0	0	1	0	30	97				
NADSYN1	55191	broad.mit.edu	37	11	71164411	71164411	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:71164411G>A	ENST00000319023.2	+	1	257	c.69G>A	c.(67-69)ttG>ttA	p.L23L	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	23	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGGGCAATTTGCAAAGAATTT	0.672																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(67-69)ttG>ttA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						40.0	38.0	39.0					11																	71164411		2200	4293	6493	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71164411G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.69G>A	11.37:g.71164411G>A							p.L23L	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			1	257	+			23			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.69G>A	CCDS8201.1																																																																																				0.672	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		28	30	0	0	0	1	0	28	30				
GDA	9615	broad.mit.edu	37	9	74764516	74764516	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:74764516G>A	ENST00000358399.3	+	1	134	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	GDA_ENST00000376989.3_5'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R14Q|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACATCTTCCGAGGGACGTTC	0.701																																						ENST00000358399.3																			0				central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(40-42)cGa>cAa		guanine deaminase							30.0	25.0	27.0					9																	74764516		2203	4299	6502	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74764516G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.41G>A	9.37:g.74764516G>A	ENSP00000351170:p.Arg14Gln					GDA_ENST00000376989.3_5'UTR|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R14Q|GDA_ENST00000545168.1_Intron	p.R14Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	1	134	+		Myeloproliferative disorder(762;0.0122)	14					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.41G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733880	0.69189	.	.	ENSG00000119125	ENST00000238018;ENST00000358399	.	.	.	5.13	3.09	0.35607	.	0.178653	0.45126	D	0.000389	T	0.28234	0.0697	L	0.46157	1.445	0.80722	D	1	P;P	0.47910	0.831;0.902	B;B	0.31337	0.128;0.074	T	0.07868	-1.0750	9	0.33940	T	0.23	-5.8499	4.3453	0.11129	0.1535:0.231:0.6155:0.0	.	14;14	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	Q	14	.	ENSP00000238018:R14Q	R	+	2	0	GDA	73954336	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.487000	0.45268	1.344000	0.45657	0.561000	0.74099	CGA		0.701	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			10	24	0	0	0	1	0	10	24				
ZNF398	57541	broad.mit.edu	37	7	148876142	148876142	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:148876142C>G	ENST00000475153.1	+	6	1445	c.1178C>G	c.(1177-1179)gCc>gGc	p.A393G	ZNF398_ENST00000335901.4_Missense_Mutation_p.A222G|ZNF398_ENST00000540950.1_Missense_Mutation_p.A398G|ZNF398_ENST00000426851.2_Missense_Mutation_p.A222G|ZNF398_ENST00000491174.1_Missense_Mutation_p.A222G|ZNF398_ENST00000420008.2_Missense_Mutation_p.A222G|ZNF398_ENST00000483892.1_Missense_Mutation_p.A222G			Q8TD17	ZN398_HUMAN	zinc finger protein 398	393					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGGACCATGCCAGCGAGACA	0.577																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(664-666)gCc>gGc		zinc finger protein 398							145.0	135.0	138.0					7																	148876142		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876142C>G	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1178C>G	7.37:g.148876142C>G	ENSP00000420418:p.Ala393Gly					ZNF398_ENST00000426851.2_Missense_Mutation_p.A222G|ZNF398_ENST00000483892.1_Missense_Mutation_p.A222G|ZNF398_ENST00000475153.1_Missense_Mutation_p.A393G|ZNF398_ENST00000540950.1_Missense_Mutation_p.A398G|ZNF398_ENST00000335901.4_Missense_Mutation_p.A222G|ZNF398_ENST00000491174.1_Missense_Mutation_p.A222G	p.A222G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1453	+	Melanoma(164;0.15)		393					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.665C>G	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275756	0.59649	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	4.66	4.66	0.58398	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.127919	0.35936	N	0.002885	T	0.16557	0.0398	L	0.35723	1.085	0.27337	N	0.956604	B;B	0.19200	0.034;0.009	B;B	0.19391	0.025;0.006	T	0.14448	-1.0472	10	0.87932	D	0	-11.8306	15.0914	0.72198	0.0:1.0:0.0:0.0	.	398;393	B4DXA9;Q8TD17	.;ZN398_HUMAN	G	222;222;393;222;222;398;222	ENSP00000389972:A222G;ENSP00000416751:A222G;ENSP00000420418:A393G;ENSP00000418564:A222G;ENSP00000419391:A222G;ENSP00000439340:A398G;ENSP00000338984:A222G	ENSP00000338984:A222G	A	+	2	0	ZNF398	148507075	0.006000	0.16342	0.083000	0.20561	0.947000	0.59692	1.859000	0.39418	2.418000	0.82041	0.650000	0.86243	GCC		0.577	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			38	141	0	0	0	1	0	38	141				
ZNF594	84622	broad.mit.edu	37	17	5086290	5086290	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:5086290C>G	ENST00000399604.4	-	1	1402	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	ZNF594_ENST00000575779.1_Missense_Mutation_p.R421T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R421I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTATGATGTCTCAGAAGGTC	0.403																																						ENST00000399604.4																			1	Substitution - Missense(1)	p.R421I(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1261-1263)aGa>aCa		zinc finger protein 594							154.0	155.0	155.0					17																	5086290		2024	4220	6244	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086290C>G	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1262G>C	17.37:g.5086290C>G	ENSP00000382513:p.Arg421Thr					ZNF594_ENST00000575779.1_Missense_Mutation_p.R421T	p.R421T			Q96JF6	ZN594_HUMAN			1	1402	-			421					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1262G>C	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	4.226	0.040749	0.08196	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.26223	1.75	1.97	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.31420	0.93	0.09310	N	1	B	0.16802	0.019	B	0.18263	0.021	T	0.38607	-0.9653	9	0.11182	T	0.66	.	4.8977	0.13759	0.0:0.4567:0.3659:0.1774	.	421	Q96JF6	ZN594_HUMAN	T	421;16	ENSP00000382513:R421T	ENSP00000373874:R16T	R	-	2	0	ZNF594	5027014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.357000	0.00128	-1.339000	0.02230	-0.499000	0.04595	AGA		0.403	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		85	271	0	0	0	1	0	85	271				
TBC1D3C	414060	broad.mit.edu	37	17	34587271	34587271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34587271G>A	ENST00000457979.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Nonsense_Mutation_p.R162*|TBC1D3C_ENST00000336331.5_Nonsense_Mutation_p.R162*|TBC1D3C_ENST00000308078.7_Nonsense_Mutation_p.R162*	NM_001001418.4	NP_001001418.4	Q6IPX1	TBC3C_HUMAN	TBC1 domain family, member 3C	162	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			kidney(5)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.557																																						ENST00000336331.5																			0				kidney(5)|pancreas(1)	6						c.(484-486)Cga>Tga		TBC1 domain family, member 3C							43.0	17.0	32.0					17																	34587271		1211	845	2056	SO:0001587	stop_gained	414060					intracellular	Rab GTPase activator activity	g.chr17:34587271G>A	BC033670	CCDS74045.1	17q12	2014-09-16				ENSG00000274933			24889	protein-coding gene	gene with protein product		610806				12359748, 16863688	Standard	XM_005257981		Approved	MGC44903	uc002hlk.2	Q6IPX1	OTTHUMG00000188484	ENST00000457979.3:c.484C>T	17.37:g.34587271G>A	ENSP00000390761:p.Arg162*					TBC1D3C_ENST00000308078.7_Nonsense_Mutation_p.R162*|TBC1D3C_ENST00000457979.3_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000400684.4_Intron|TBC1D3C_ENST00000451448.2_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000535446.1_Intron	p.R162*			Q6IPX1	TBC3C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1237	-		Breast(25;0.102)|Ovarian(249;0.17)	162			Rab-GAP TBC.			Nonsense_Mutation	SNP	ENST00000457979.3	37	c.484C>T	CCDS11309.2	.	.	.	.	.	.	.	.	.	.	-	40	8.029931	0.98619	.	.	ENSG00000234972	ENST00000308078;ENST00000457979;ENST00000336331;ENST00000451448	.	.	.	0.0465	0.0465	0.14256	.	0.067778	0.64402	U	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	.	.	.	X	162	.	ENSP00000308718:R162X	R	-	1	2	TBC1D3C	31611384	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	3.656000	0.54467	0.132000	0.18615	0.134000	0.15878	CGA		0.557	TBC1D3C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256090.2	NM_001001418		126	699	0	0	0	1	0	126	699				
PTPRM	5797	broad.mit.edu	37	18	8085846	8085846	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr18:8085846A>T	ENST00000332175.8	+	10	2766	c.1729A>T	c.(1729-1731)Aac>Tac	p.N577Y	PTPRM_ENST00000580170.1_Missense_Mutation_p.N577Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.N515Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.N364Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.N577Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	577	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCAGCAACAAACCAGTTCAC	0.418																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1729-1731)Aac>Tac		protein tyrosine phosphatase, receptor type, M							87.0	81.0	83.0					18																	8085846		2203	4299	6502	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8085846A>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1729A>T	18.37:g.8085846A>T	ENSP00000331418:p.Asn577Tyr					PTPRM_ENST00000444013.1_Missense_Mutation_p.N364Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.N515Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.N577Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.N577Y	p.N577Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			10	2766	+		Colorectal(10;0.234)	577			Fibronectin type-III 3.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1729A>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670620	0.47781	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	6.02	0.97574	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.141121	0.64402	D	0.000004	T	0.26557	0.0649	N	0.08118	0	0.43457	D	0.995653	B;P;P	0.43857	0.052;0.819;0.819	B;B;B	0.33690	0.036;0.168;0.168	T	0.12091	-1.0561	10	0.28530	T	0.3	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	364;577;577	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	577;577;515;364	ENSP00000331418:N577Y;ENSP00000382933:N577Y;ENSP00000382927:N515Y;ENSP00000387608:N364Y	ENSP00000331418:N577Y	N	+	1	0	PTPRM	8075846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.520000	0.81821	2.311000	0.77944	0.533000	0.62120	AAC		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			4	107	0	0	0	1	0	4	107				
ADAM29	11086	broad.mit.edu	37	4	175897038	175897038	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:175897038G>A	ENST00000359240.3	+	5	1032	c.362G>A	c.(361-363)gGg>gAg	p.G121E	ADAM29_ENST00000445694.1_Missense_Mutation_p.G121E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121E|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	121					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCTGTTTTGGGGGTTTTCAA	0.428																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(361-363)gGg>gAg		ADAM metallopeptidase domain 29							68.0	71.0	70.0					4																	175897038		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897038G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.362G>A	4.37:g.175897038G>A	ENSP00000352177:p.Gly121Glu					ADAM29_ENST00000445694.1_Missense_Mutation_p.G121E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121E	p.G121E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1032	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	121					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.362G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846163	0.71603	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.43	4.43	0.53597	Peptidase M12B, propeptide (1);	0.000000	0.36409	U	0.002608	T	0.41673	0.1169	H	0.97131	3.945	0.24812	N	0.992639	D	0.89917	1.0	D	0.97110	1.0	T	0.52223	-0.8604	9	.	.	.	.	13.2325	0.59951	0.0:0.0:1.0:0.0	.	121	Q9UKF5	ADA29_HUMAN	E	121	ENSP00000352177:G121E;ENSP00000414544:G121E;ENSP00000384229:G121E;ENSP00000423517:G121E	.	G	+	2	0	ADAM29	176133613	0.992000	0.36948	0.954000	0.39281	0.932000	0.56968	4.932000	0.63476	2.391000	0.81399	0.637000	0.83480	GGG		0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				57	133	0	0	0	1	0	57	133				
COBLL1	22837	broad.mit.edu	37	2	165555991	165555991	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:165555991T>C	ENST00000392717.2	-	12	1714	c.1710A>G	c.(1708-1710)gtA>gtG	p.V570V	COBLL1_ENST00000194871.6_Silent_p.V598V|COBLL1_ENST00000409184.3_Silent_p.V531V|COBLL1_ENST00000342193.4_Silent_p.V532V|COBLL1_ENST00000375458.2_Silent_p.V493V|COBLL1_ENST00000491126.2_5'Flank			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	570						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTGTATCATATACTACACTGT	0.373																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(1477-1479)gtA>gtG		cordon-bleu WH2 repeat protein-like 1							195.0	185.0	189.0					2																	165555991		2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165555991T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1710A>G	2.37:g.165555991T>C						COBLL1_ENST00000194871.6_Silent_p.V598V|COBLL1_ENST00000342193.4_Silent_p.V532V|COBLL1_ENST00000409184.3_Silent_p.V531V|COBLL1_ENST00000392717.2_Silent_p.V570V	p.V493V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			10	1700	-			570					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.1479A>G																																																																																					0.373	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		48	164	0	0	0	1	0	48	164				
MYH7	4625	broad.mit.edu	37	14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTTCTGCTGCATCACCTGG	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(232-234)Cag>Tag		myosin, heavy chain 7, cardiac muscle, beta							258.0	190.0	213.0					14																	23902406		2203	4300	6503	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902406G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.232C>T	14.37:g.23902406G>A	ENSP00000347507:p.Gln78*						p.Q78*	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	4	394	-	all_cancers(95;2.54e-05)		78			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.232C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755367	0.96898	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6444	0.51253	0.0915:0.0:0.9085:0.0	.	.	.	.	X	78	.	ENSP00000347507:Q78X	Q	-	1	0	MYH7	22972246	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.068000	0.50018	2.029000	0.59856	0.305000	0.20034	CAG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		28	83	0	0	0	1	0	28	83				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	82	0	0	0	1	0	4	82				
TTK	7272	broad.mit.edu	37	6	80744748	80744748	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:80744748A>T	ENST00000369798.2	+	15	1772	c.1661A>T	c.(1660-1662)tAt>tTt	p.Y554F	TTK_ENST00000509894.1_Missense_Mutation_p.Y553F|TTK_ENST00000230510.3_Missense_Mutation_p.Y553F	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	554	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCTATAAAATATGTGAACTTA	0.308																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1657-1659)tAt>tTt		TTK protein kinase							71.0	76.0	74.0					6																	80744748		2197	4284	6481	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80744748A>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1661A>T	6.37:g.80744748A>T	ENSP00000358813:p.Tyr554Phe					TTK_ENST00000369798.2_Missense_Mutation_p.Y554F|TTK_ENST00000230510.3_Missense_Mutation_p.Y553F	p.Y553F			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	15	2487	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	554			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1658A>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.828782	0.32329	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.73363	-0.74;-0.74;-0.74	5.77	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.296823	0.39083	N	0.001470	T	0.34221	0.0890	N	0.10972	0.075	0.47737	D	0.999505	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.14699	-1.0463	10	0.11794	T	0.64	.	13.7397	0.62840	0.8829:0.0:0.0:0.1171	.	554;553	P33981;A8K8U5	TTK_HUMAN;.	F	553;553;554	ENSP00000422936:Y553F;ENSP00000230510:Y553F;ENSP00000358813:Y554F	ENSP00000230510:Y553F	Y	+	2	0	TTK	80801467	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.901000	0.63259	0.445000	0.26639	-2.076000	0.00381	TAT		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			37	132	0	0	0	1	0	37	132				
HBG2	3048	broad.mit.edu	37	11	5275545	5275545	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:5275545G>A	ENST00000380259.2	-	7	1532	c.292C>T	c.(292-294)Cat>Tat	p.H98Y	HBG2_ENST00000380252.1_Missense_Mutation_p.H88Y|HBG2_ENST00000336906.4_Missense_Mutation_p.H98Y			P69892	HBG2_HUMAN	hemoglobin, gamma G	98					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCACATGCAGCTTGTCA	0.498																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(292-294)Cat>Tat		hemoglobin, gamma G							169.0	131.0	144.0					11																	5275545		2201	4296	6497	SO:0001583	missense	3048							g.chr11:5275545G>A	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.292C>T	11.37:g.5275545G>A	ENSP00000369609:p.His98Tyr					HBG2_ENST00000336906.4_Missense_Mutation_p.H98Y|HBG2_ENST00000380252.1_Missense_Mutation_p.H88Y	p.H98Y						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1532	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.292C>T	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526805	0.64860	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.94138	-3.36;-3.36;-3.36	3.41	3.41	0.39046	Globin-like (2);Globin, structural domain (2);	0.119241	0.56097	U	0.000031	D	0.95271	0.8466	M	0.94142	3.5	0.58432	D	0.999998	B;B	0.27117	0.134;0.168	B;B	0.33295	0.161;0.086	D	0.96194	0.9140	10	0.87932	D	0	.	14.6154	0.68544	0.0:0.0:1.0:0.0	.	98;98	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	Y	88;98;98;98	ENSP00000369602:H88Y;ENSP00000369609:H98Y;ENSP00000338082:H98Y	ENSP00000338082:H98Y	H	-	1	0	HBG2	5232121	1.000000	0.71417	0.445000	0.26908	0.984000	0.73092	5.956000	0.70315	2.184000	0.69523	0.650000	0.86243	CAT		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		29	256	0	0	0	1	0	29	256				
SUPT6H	6830	broad.mit.edu	37	17	27031202	27031202	+	IGR	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:27031202C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.A129T|PROCA1_ENST00000581289.1_Nonsense_Mutation_p.W40*|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A131T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATCACTGCCACAGAGACA	0.562																																						ENST00000581289.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(118-120)tgG>tgA		protein interacting with cyclin A1							31.0	34.0	33.0					17																	27031202		2198	4295	6493	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031202C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031202C>T						PROCA1_ENST00000301039.2_Missense_Mutation_p.A129T|PROCA1_ENST00000439862.3_Missense_Mutation_p.A131T|PROCA1_ENST00000579650.1_5'UTR	p.W40*			Q8NCQ7	PRCA1_HUMAN			2	206	-	Lung NSC(42;0.00431)		0					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	c.120G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330731	0.24167	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.34472	1.36;1.36	5.29	4.32	0.51571	Phospholipase A2 (2);	0.253132	0.38492	N	0.001673	T	0.52980	0.1768	L	0.59436	1.845	0.36294	D	0.85656	D;P;D	0.89917	1.0;0.946;1.0	D;P;D	0.87578	0.996;0.636;0.998	T	0.62909	-0.6754	10	0.87932	D	0	-23.6433	9.6454	0.39863	0.0:0.9036:0.0:0.0964	.	157;131;129	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	T	129;131;157;131	ENSP00000301039:A129T;ENSP00000411400:A131T	ENSP00000301039:A129T	A	-	1	0	PROCA1	24055329	0.998000	0.40836	0.965000	0.40720	0.275000	0.26752	3.222000	0.51223	1.204000	0.43247	0.655000	0.94253	GCA		0.562	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		36	79	0	0	0	1	0	36	79				
C10orf71	118461	broad.mit.edu	37	10	50530982	50530982	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:50530982C>A	ENST00000374144.3	+	3	680	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.S131Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	131										endometrium(1)	1						GTGCCAGTTTCCGGCCTAAGG	0.537																																						ENST00000374144.3																			0				endometrium(1)	1						c.(391-393)tCc>tAc		chromosome 10 open reading frame 71							78.0	92.0	87.0					10																	50530982		1948	4146	6094	SO:0001583	missense	118461							g.chr10:50530982C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.392C>A	10.37:g.50530982C>A	ENSP00000363259:p.Ser131Tyr					C10orf71_ENST00000323868.4_Missense_Mutation_p.S131Y	p.S131Y			Q711Q0	CJ071_HUMAN			3	680	+			131					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.392C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329217	0.24167	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.19938	2.11;3.21	4.94	4.94	0.65067	.	0.000000	0.46758	D	0.000272	T	0.35508	0.0934	L	0.38531	1.155	0.24838	N	0.99249	D	0.76494	0.999	D	0.66979	0.948	T	0.10776	-1.0615	10	0.46703	T	0.11	.	16.3353	0.83059	0.0:1.0:0.0:0.0	.	131	Q711Q0-3	.	Y	131	ENSP00000318713:S131Y;ENSP00000363259:S131Y	ENSP00000318713:S131Y	S	+	2	0	C10orf71	50200988	0.072000	0.21174	0.043000	0.18650	0.533000	0.34776	3.791000	0.55469	2.287000	0.76781	0.462000	0.41574	TCC		0.537	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		14	92	1	0	0.00316338	1	0.00325597	14	92				
CDK5	1020	broad.mit.edu	37	7	150754047	150754047	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:150754047C>T	ENST00000485972.1	-	3	823	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Missense_Mutation_p.A48T|SLC4A2_ENST00000413384.2_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.A48T(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCCCGGAGGGCGGAACTCGGC	0.662																																						ENST00000485972.1																			1	Substitution - Missense(1)	p.A48T(1)	lung(1)	central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(142-144)Gcc>Acc		cyclin-dependent kinase 5							40.0	46.0	44.0					7																	150754047		2035	4157	6192	SO:0001583	missense	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754047C>T	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.142G>A	7.37:g.150754047C>T	ENSP00000419782:p.Ala48Thr					CDK5_ENST00000297518.4_Missense_Mutation_p.A48T	p.A48T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	3	823	-		Breast(660;0.159)|Ovarian(593;0.182)	48			Protein kinase.		A1XKG3	Missense_Mutation	SNP	ENST00000485972.1	37	c.142G>A	CCDS47748.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338914	0.81911	.	.	ENSG00000164885	ENST00000485972;ENST00000297518	T;T	0.45276	0.9;0.9	5.43	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055324	0.64402	D	0.000001	T	0.43233	0.1238	N	0.05592	-0.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.97	T	0.54351	-0.8307	10	0.87932	D	0	-20.5081	13.0945	0.59184	0.1614:0.8386:0.0:0.0	.	48;48	Q00535-2;Q00535	.;CDK5_HUMAN	T	48	ENSP00000419782:A48T;ENSP00000297518:A48T	ENSP00000297518:A48T	A	-	1	0	CDK5	150384980	1.000000	0.71417	0.880000	0.34516	0.633000	0.38033	5.347000	0.65998	1.462000	0.47948	0.655000	0.94253	GCC		0.662	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			18	58	0	0	0	1	0	18	58				
BCRP7	100133163	broad.mit.edu	37	22	18846140	18846140	+	3'UTR	SNP	T	T	C	rs200622823		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:18846140T>C	ENST00000412938.1	+	0	3498																											TAGGGCACCTTGGACCTCTCT	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846140T>C																												ENST00000412938.1:c.*3495T>C	22.37:g.18846140T>C														0	3498	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	32	0	0	0	1	0	8	32				
ZNF441	126068	broad.mit.edu	37	19	11892651	11892651	+	Missense_Mutation	SNP	A	A	G	rs138221659	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:11892651A>G	ENST00000357901.4	+	4	2114	c.2012A>G	c.(2011-2013)tAt>tGt	p.Y671C	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAAACCCTATAAGTGTAAA	0.398													A|||	2	0.000399361	0.0	0.0	5008	,	,		19536	0.0		0.0	False		,,,				2504	0.002					ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2011-2013)tAt>tGt		zinc finger protein 441		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	68.0	75.0	72.0		2012	-2.4	0.0	19	dbSNP_134	72	0,8598		0,0,4299	no	missense	ZNF441	NM_152355.2	194	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	671/694	11892651	1,13003	2203	4299	6502	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892651A>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.2012A>G	19.37:g.11892651A>G	ENSP00000350576:p.Tyr671Cys					ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C	p.Y671C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	2114	+			671						Missense_Mutation	SNP	ENST00000357901.4	37	c.2012A>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	a	11.10	1.538207	0.27475	2.27E-4	0.0	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.63913	-0.07;-0.07	1.19	-2.38	0.06622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.59945	0.2231	M	0.89968	3.075	0.09310	N	1	B	0.26041	0.14	B	0.13407	0.009	T	0.54629	-0.8265	9	0.66056	D	0.02	.	2.5549	0.04757	0.3731:0.0:0.2721:0.3547	.	671	Q8N8Z8	ZN441_HUMAN	C	627;671;604	ENSP00000350576:Y671C;ENSP00000403738:Y604C	ENSP00000350576:Y671C	Y	+	2	0	ZNF441	11753651	0.000000	0.05858	0.000000	0.03702	0.552000	0.35366	-0.592000	0.05747	-1.225000	0.02578	0.254000	0.18369	TAT		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		31	65	0	0	0	1	0	31	65				
ZNF746	155061	broad.mit.edu	37	7	149191090	149191090	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:149191090C>T	ENST00000340622.3	-	3	676	c.396G>A	c.(394-396)ctG>ctA	p.L132L	ZNF746_ENST00000461958.2_Silent_p.L132L|ZNF746_ENST00000458143.2_Silent_p.L132L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	132	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCAGGGAGACCAGCGTCTCGT	0.502																																						ENST00000461958.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(394-396)ctG>ctA		zinc finger protein 746							186.0	154.0	165.0					7																	149191090		2203	4300	6503	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149191090C>T	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.396G>A	7.37:g.149191090C>T						ZNF746_ENST00000458143.2_Silent_p.L132L|ZNF746_ENST00000340622.3_Silent_p.L132L	p.L132L			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		3	592	-	Melanoma(164;0.165)		132			KRAB.		A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.396G>A	CCDS5897.1																																																																																				0.502	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		40	118	0	0	0	1	0	40	118				
ZRANB2	9406	broad.mit.edu	37	1	71532495	71532495	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:71532495C>T	ENST00000370920.3	-	9	1194	c.893G>A	c.(892-894)cGc>cAc	p.R298H	ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R298H|ZRANB2_ENST00000477096.1_5'UTR	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	298	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTTTTTTTGCGATCACCAGA	0.388																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(892-894)cGc>cAc		zinc finger, RAN-binding domain containing 2							125.0	121.0	122.0					1																	71532495		2203	4300	6503	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71532495C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.893G>A	1.37:g.71532495C>T	ENSP00000359958:p.Arg298His					ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R298H	p.R298H	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			9	1194	-			298			Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.893G>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557253	0.65425	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.69040	-0.37;-0.2	6.16	6.16	0.99307	.	.	.	.	.	T	0.48589	0.1508	L	0.27053	0.805	0.58432	D	0.999992	P;P	0.51791	0.744;0.948	B;B	0.41619	0.128;0.361	T	0.51276	-0.8726	9	0.41790	T	0.15	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	298;298	O95218;O95218-2	ZRAB2_HUMAN;.	H	298	ENSP00000359958:R298H;ENSP00000254821:R298H	ENSP00000254821:R298H	R	-	2	0	ZRANB2	71305083	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.674000	0.61612	2.937000	0.99478	0.650000	0.86243	CGC		0.388	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		4	165	0	0	0	1	0	4	165				
COL14A1	7373	broad.mit.edu	37	8	121282323	121282323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:121282323G>A	ENST00000297848.3	+	26	3393	c.3123G>A	c.(3121-3123)tgG>tgA	p.W1041*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W1041*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W946*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGGATCCTGGAGCATTGGAG	0.428																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3121-3123)tgG>tgA		collagen, type XIV, alpha 1							132.0	120.0	124.0					8																	121282323		2203	4299	6502	SO:0001587	stop_gained	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121282323G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3123G>A	8.37:g.121282323G>A	ENSP00000297848:p.Trp1041*					COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W1041*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W946*	p.W1041*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		26	3393	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1041			VWFA 2.			Nonsense_Mutation	SNP	ENST00000297848.3	37	c.3123G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	44	10.544241	0.99425	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6682	0.91499	0.0:0.0:1.0:0.0	.	.	.	.	X	1041;1041;946	.	ENSP00000247781:W946X	W	+	3	0	COL14A1	121351504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.791000	0.85805	2.648000	0.89879	0.462000	0.41574	TGG		0.428	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		27	132	0	0	0	1	0	27	132				
LRP2	4036	broad.mit.edu	37	2	170090032	170090032	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:170090032G>T	ENST00000263816.3	-	30	5272	c.4987C>A	c.(4987-4989)Cgt>Agt	p.R1663S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1663					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATAACCCGACGAGTAGCACGG	0.493																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4987-4989)Cgt>Agt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						84.0	78.0	80.0					2																	170090032		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170090032G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4987C>A	2.37:g.170090032G>T	ENSP00000263816:p.Arg1663Ser						p.R1663S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5272	-			1663					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4987C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190092	0.21954	.	.	ENSG00000081479	ENST00000263816	D	0.90732	-2.72	5.16	1.17	0.20885	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.815055	0.11488	N	0.559055	T	0.74711	0.3752	N	0.04260	-0.245	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.61540	-0.7042	10	0.33141	T	0.24	.	2.2018	0.03925	0.1417:0.2173:0.4098:0.2312	.	1663	P98164	LRP2_HUMAN	S	1663	ENSP00000263816:R1663S	ENSP00000263816:R1663S	R	-	1	0	LRP2	169798278	0.941000	0.31946	0.000000	0.03702	0.045000	0.14185	2.668000	0.46816	-0.001000	0.14495	0.557000	0.71058	CGT		0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		20	73	1	0	3.62473e-10	1	3.94236e-10	20	73				
BPIFB2	80341	broad.mit.edu	37	20	31601626	31601626	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:31601626C>A	ENST00000170150.3	+	5	514	c.319C>A	c.(319-321)Ccc>Acc	p.P107T		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	107						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CGCCCCAGAGCCCCTGGAGCT	0.612																																						ENST00000170150.3																			0											c.(319-321)Ccc>Acc		BPI fold containing family B, member 2							42.0	44.0	43.0					20																	31601626		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31601626C>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.319C>A	20.37:g.31601626C>A	ENSP00000170150:p.Pro107Thr						p.P107T	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			5	514	+			107					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.319C>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144971	0.01714	.	.	ENSG00000078898	ENST00000170150	T	0.04970	3.52	3.7	2.76	0.32466	.	0.417829	0.20678	N	0.087714	T	0.07458	0.0188	L	0.32530	0.975	0.31882	N	0.618279	P	0.45827	0.867	P	0.49683	0.619	T	0.15122	-1.0448	10	0.24483	T	0.36	-22.2396	7.1935	0.25839	0.0:0.8791:0.0:0.1209	.	107	Q8N4F0	BPIB2_HUMAN	T	107	ENSP00000170150:P107T	ENSP00000170150:P107T	P	+	1	0	BPIFB2	31065287	0.978000	0.34361	0.998000	0.56505	0.727000	0.41649	0.100000	0.15231	1.140000	0.42260	0.561000	0.74099	CCC		0.612	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		22	71	1	0	1.55795e-14	1	1.73929e-14	22	71				
SFTPA2	729238	broad.mit.edu	37	10	81319204	81319204	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:81319204C>T	ENST00000372325.2	-	3	120	c.36G>A	c.(34-36)ttG>ttA	p.L12L	SFTPA2_ENST00000372327.5_Silent_p.L12L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	12			L -> W. {ECO:0000269|PubMed:19100526}.		respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.L12L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGCTGCCATCAAGATGAGGG	0.652									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			1	Substitution - coding silent(1)	p.L12L(1)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(34-36)ttG>ttA		surfactant protein A2							131.0	94.0	106.0					10																	81319204		2203	4296	6499	SO:0001819	synonymous_variant	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81319204C>T		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.36G>A	10.37:g.81319204C>T						SFTPA2_ENST00000372327.5_Silent_p.L12L	p.L12L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	120	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		12		L -> W.			A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Silent	SNP	ENST00000372325.2	37	c.36G>A	CCDS41540.1																																																																																				0.652	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		27	131	0	0	0	1	0	27	131				
ADAMTSL1	92949	broad.mit.edu	37	9	18721646	18721646	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:18721646G>A	ENST00000380548.4	+	15	2328	c.1989G>A	c.(1987-1989)ttG>ttA	p.L663L	ADAMTSL1_ENST00000276935.6_Silent_p.L663L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	663	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGCAATTTGGATCCCTGCC	0.592																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1987-1989)ttG>ttA		ADAMTS-like 1							76.0	67.0	70.0					9																	18721646		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18721646G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1989G>A	9.37:g.18721646G>A						ADAMTSL1_ENST00000276935.6_Silent_p.L663L	p.L663L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	15	2328	+			663			TSP type-1 5.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.1989G>A	CCDS47954.1																																																																																				0.592	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			23	41	0	0	0	1	0	23	41				
C14orf28	122525	broad.mit.edu	37	14	45373697	45373697	+	Silent	SNP	G	G	A	rs547570570		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:45373697G>A	ENST00000325192.3	+	4	989	c.714G>A	c.(712-714)gcG>gcA	p.A238A	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Silent_p.A208A|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	238										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAGATCTGGCGTATGTACCCT	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		15530	0.0		0.0	False		,,,				2504	0.001					ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(712-714)gcG>gcA		chromosome 14 open reading frame 28							147.0	143.0	145.0					14																	45373697		2203	4300	6503	SO:0001819	synonymous_variant	122525							g.chr14:45373697G>A	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.714G>A	14.37:g.45373697G>A						C14orf28_ENST00000557112.1_Silent_p.A208A|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000553841.1_3'UTR	p.A238A	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			4	989	+			238						Silent	SNP	ENST00000325192.3	37	c.714G>A	CCDS32069.1																																																																																				0.348	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		23	108	0	0	0	1	0	23	108				
NPAP1	23742	broad.mit.edu	37	15	24922482	24922482	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:24922482G>A	ENST00000329468.2	+	1	1942	c.1468G>A	c.(1468-1470)Gca>Aca	p.A490T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	490	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCGTAGGAGCAGCGCCTCT	0.517																																						ENST00000329468.2																			0											c.(1468-1470)Gca>Aca		nuclear pore associated protein 1							193.0	203.0	199.0					15																	24922482		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922482G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1468G>A	15.37:g.24922482G>A	ENSP00000333735:p.Ala490Thr						p.A490T	NM_018958.2	NP_061831.2					1	1942	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1468G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	2.230	-0.376413	0.05000	.	.	ENSG00000185823	ENST00000329468	T	0.04970	3.52	2.07	0.943	0.19531	.	1.499650	0.04447	N	0.371857	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.25743	0.133	B	0.23852	0.049	T	0.41734	-0.9492	10	0.10902	T	0.67	.	3.0048	0.06025	0.4784:0.0:0.5216:0.0	.	490	Q9NZP6	CO002_HUMAN	T	490	ENSP00000333735:A490T	ENSP00000333735:A490T	A	+	1	0	C15orf2	22473575	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.214000	0.17541	0.285000	0.22329	0.313000	0.20887	GCA		0.517	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		65	216	0	0	0	1	0	65	216				
HMCN1	83872	broad.mit.edu	37	1	185958709	185958709	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:185958709T>C	ENST00000271588.4	+	21	3367	c.3138T>C	c.(3136-3138)agT>agC	p.S1046S	HMCN1_ENST00000367492.2_Silent_p.S1046S|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1046	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGGAGAGTGGGGAGTATG	0.488																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3136-3138)agT>agC		hemicentin 1							123.0	111.0	115.0					1																	185958709		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185958709T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3138T>C	1.37:g.185958709T>C						HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.S1046S	p.S1046S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			21	3367	+			1046			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3138T>C	CCDS30956.1																																																																																				0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		35	69	0	0	0	1	0	35	69				
PTPRT	11122	broad.mit.edu	37	20	41306562	41306562	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:41306562C>T	ENST00000373187.1	-	7	1096	c.1097G>A	c.(1096-1098)gGt>gAt	p.G366D	PTPRT_ENST00000356100.2_Missense_Mutation_p.G366D|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373193.3_Missense_Mutation_p.G366D|PTPRT_ENST00000373198.4_Missense_Mutation_p.G366D			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	366	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G366V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCCCCTCACCTGGTCGTGT	0.562																																						ENST00000373198.3																			1	Substitution - Missense(1)	p.G366V(1)	ovary(1)	NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1096-1098)gGt>gAt		protein tyrosine phosphatase, receptor type, T							97.0	97.0	97.0					20																	41306562		1941	4140	6081	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306562C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1097G>A	20.37:g.41306562C>T	ENSP00000362283:p.Gly366Asp					PTPRT_ENST00000373193.3_Missense_Mutation_p.G366D|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366D|PTPRT_ENST00000356100.2_Missense_Mutation_p.G366D|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373187.1_Missense_Mutation_p.G366D	p.G366D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			7	1332	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	366			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1097G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942940	0.92526	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95040	0.8394	M	0.87180	2.865	0.80722	D	1	D;D	0.65815	0.995;0.992	P;D	0.65140	0.888;0.932	D	0.95430	0.8515	10	0.87932	D	0	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	366;366	O14522-1;O14522	.;PTPRT_HUMAN	D	366	ENSP00000362286:G366D;ENSP00000362283:G366D;ENSP00000362289:G366D;ENSP00000348408:G366D;ENSP00000362294:G366D;ENSP00000362280:G366D;ENSP00000362297:G366D	ENSP00000348408:G366D	G	-	2	0	PTPRT	40739976	1.000000	0.71417	0.974000	0.42286	0.793000	0.44817	7.776000	0.85560	2.705000	0.92388	0.655000	0.94253	GGT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			7	139	0	0	0	1	0	7	139				
NUP153	9972	broad.mit.edu	37	6	17688742	17688742	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:17688742G>A	ENST00000262077.2	-	2	218	c.219C>T	c.(217-219)agC>agT	p.S73S	NUP153_ENST00000537253.1_Silent_p.S73S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	73					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGGAACCTCGCTTGTGTCTG	0.448																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(217-219)agC>agT		nucleoporin 153kDa							155.0	145.0	149.0					6																	17688742		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688742G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.219C>T	6.37:g.17688742G>A						NUP153_ENST00000537253.1_Silent_p.S73S	p.S73S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	218	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	73					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.219C>T	CCDS4541.1																																																																																				0.448	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			43	114	0	0	0	1	0	43	114				
HCAR2	338442	broad.mit.edu	37	12	123187644	123187644	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:123187644G>A	ENST00000328880.5	-	1	246	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	63					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AGGAAAATCCGGCTGGATTTC	0.537																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(187-189)Cgg>Tgg		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						62.0	59.0	60.0					12																	123187644		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187644G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.187C>T	12.37:g.123187644G>A	ENSP00000375066:p.Arg63Trp					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.R63W	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	246	-			63					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.187C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432382	0.43224	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.37915	1.17	5.45	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.297955	0.27043	N	0.021211	T	0.35335	0.0928	M	0.74647	2.275	0.31581	N	0.655047	B	0.27316	0.175	B	0.26310	0.068	T	0.39440	-0.9614	10	0.72032	D	0.01	-20.1439	7.8299	0.29336	0.0762:0.0:0.374:0.5498	.	63	Q8TDS4	HCAR2_HUMAN	W	63	ENSP00000375066:R63W	ENSP00000375066:R63W	R	-	1	2	HCAR2	121753597	0.002000	0.14202	0.993000	0.49108	0.999000	0.98932	-0.046000	0.11983	0.098000	0.17522	0.650000	0.86243	CGG		0.537	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		20	49	0	0	0	1	0	20	49				
RNF31	55072	broad.mit.edu	37	14	24629157	24629157	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:24629157C>T	ENST00000324103.6	+	19	3304	c.2984C>T	c.(2983-2985)gCc>gTc	p.A995V	RNA5SP383_ENST00000362934.1_RNA|RNF31_ENST00000382687.3_Missense_Mutation_p.A844V|IRF9_ENST00000557894.1_5'Flank|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.A470V|IRF9_ENST00000396864.3_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.A844V	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	995	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCTGGCTATGCCGGCCTGTGC	0.592																																						ENST00000558468.1																			0											c.(1408-1410)gCc>gTc									91.0	97.0	95.0					14																	24629157		2044	4196	6240	SO:0001583	missense	0							g.chr14:24629157C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2984C>T	14.37:g.24629157C>T	ENSP00000315112:p.Ala995Val					RNF31_ENST00000559275.1_Missense_Mutation_p.A844V|RNF31_ENST00000382687.3_Missense_Mutation_p.A844V|RNF31_ENST00000324103.6_Missense_Mutation_p.A995V	p.A470V							11	1409	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1409C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846688	0.91277	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.57273	0.41;0.41	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.994;0.987;0.994;0.997	T	0.77046	-0.2733	10	0.87932	D	0	-7.472	18.6706	0.91510	0.0:1.0:0.0:0.0	.	995;754;995;844	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	V	428;995;844	ENSP00000315112:A995V;ENSP00000372134:A844V	ENSP00000315112:A995V	A	+	2	0	RNF31	23698997	1.000000	0.71417	0.946000	0.38457	0.610000	0.37248	6.475000	0.73582	2.708000	0.92522	0.655000	0.94253	GCC		0.592	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		4	123	0	0	0	1	0	4	123				
ADCY2	108	broad.mit.edu	37	5	7766898	7766898	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:7766898G>A	ENST00000338316.4	+	17	2282	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	ADCY2_ENST00000537121.1_Silent_p.A551A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTGCGTGCGCAGAATTTAT	0.428																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2191-2193)gcG>gcA		adenylate cyclase 2 (brain)							172.0	177.0	176.0					5																	7766898		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766898G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2193G>A	5.37:g.7766898G>A						ADCY2_ENST00000537121.1_Silent_p.A551A	p.A731A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			17	2282	+			731					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2193G>A	CCDS3872.2																																																																																				0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	373	0	0	0	1	0	6	373				
KIF4B	285643	broad.mit.edu	37	5	154396174	154396174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:154396174G>T	ENST00000435029.4	+	1	2915	c.2755G>T	c.(2755-2757)Gag>Tag	p.E919*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	919	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTACAAGCTGAGCTGGTCAG	0.468																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2755-2757)Gag>Tag		kinesin family member 4B							81.0	78.0	79.0					5																	154396174		2203	4300	6503	SO:0001587	stop_gained	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396174G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2755G>T	5.37:g.154396174G>T	ENSP00000387875:p.Glu919*						p.E919*	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2915	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	919			Interaction with PRC1 (By similarity).			Nonsense_Mutation	SNP	ENST00000435029.4	37	c.2755G>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.506909	0.85282	.	.	ENSG00000226650	ENST00000435029	.	.	.	1.76	0.861	0.19048	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	3.0431	0.06145	0.189:0.2913:0.5198:0.0	.	.	.	.	X	919	.	ENSP00000387875:E919X	E	+	1	0	KIF4B	154376367	1.000000	0.71417	0.055000	0.19348	0.197000	0.23852	2.161000	0.42358	0.296000	0.22592	0.557000	0.71058	GAG		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			19	60	1	0	4.96729e-08	1	5.3203e-08	19	60				
BCR	613	broad.mit.edu	37	22	23603613	23603613	+	Silent	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:23603613C>A	ENST00000305877.8	+	4	2389	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	BCR_ENST00000359540.3_Silent_p.I546I|RN7SL263P_ENST00000467969.2_RNA	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	546	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TCGAGACCATCTTCTTCAAAG	0.592			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1636-1638)atC>atA		breakpoint cluster region							92.0	97.0	95.0					22																	23603613		2203	4300	6503	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23603613C>A		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1638C>A	22.37:g.23603613C>A						BCR_ENST00000359540.3_Silent_p.I546I	p.I546I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			4	2389	+			546			DH.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.1638C>A	CCDS13806.1																																																																																				0.592	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		78	85	1	0	5.02462e-34	1	5.79342e-34	78	85				
UBC	7316	broad.mit.edu	37	12	125397148	125397148	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:125397148A>G	ENST00000536769.1	-	1	2746	c.1170T>C	c.(1168-1170)ggT>ggC	p.G390G	UBC_ENST00000339647.5_Silent_p.G390G|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.G314G|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	390	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGATGGTCTTACCAGTCAGGG	0.532																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1168-1170)ggT>ggC		ubiquitin C							219.0	200.0	207.0					12																	125397148		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397148A>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1170T>C	12.37:g.125397148A>G						UBC_ENST00000546120.1_Silent_p.G314G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G390G	p.G390G			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2746	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		390			Ubiquitin-like 6.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1170T>C	CCDS9260.1																																																																																				0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		21	306	0	0	0	1	0	21	306				
LAMB3	3914	broad.mit.edu	37	1	209803174	209803174	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:209803174C>T	ENST00000356082.4	-	10	1174	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	LAMB3_ENST00000367030.3_Missense_Mutation_p.R347Q|LAMB3_ENST00000391911.1_Missense_Mutation_p.R347Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	347	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGTGGTCCCGGCAATTGTC	0.592																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1039-1041)cGg>cAg		laminin, beta 3							103.0	102.0	102.0					1																	209803174		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209803174C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1040G>A	1.37:g.209803174C>T	ENSP00000348384:p.Arg347Gln					LAMB3_ENST00000356082.4_Missense_Mutation_p.R347Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R347Q	p.R347Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	9	1429	-			347			Laminin EGF-like 2.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1040G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663200	0.14710	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61742	0.08;0.08;0.08	5.52	0.374	0.16183	EGF-like, laminin (4);	0.533478	0.20282	N	0.095422	T	0.28764	0.0713	N	0.11560	0.145	0.29349	N	0.865506	B	0.25521	0.128	B	0.19946	0.027	T	0.34428	-0.9829	10	0.02654	T	1	.	10.237	0.43288	0.0:0.5232:0.0:0.4768	.	347	Q13751	LAMB3_HUMAN	Q	347	ENSP00000375778:R347Q;ENSP00000348384:R347Q;ENSP00000355997:R347Q	ENSP00000348384:R347Q	R	-	2	0	LAMB3	207869797	0.115000	0.22152	0.826000	0.32828	0.886000	0.51366	-0.681000	0.05191	-0.168000	0.10853	0.551000	0.68910	CGG		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		5	178	0	0	0	1	0	5	178				
FBXO3	26273	broad.mit.edu	37	11	33768700	33768700	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:33768700T>C	ENST00000265651.3	-	10	1233	c.1215A>G	c.(1213-1215)acA>acG	p.T405T	FBXO3_ENST00000530401.1_Silent_p.T400T|FBXO3_ENST00000526785.1_Silent_p.T292T|FBXO3_ENST00000532057.1_Silent_p.T92T|FBXO3_ENST00000534136.1_Silent_p.T405T|FBXO3_ENST00000531080.1_Silent_p.T92T|FBXO3_ENST00000448981.2_Silent_p.T405T	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	405	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACACCCTGAATGTTGGACATG	0.383																																						ENST00000530401.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1198-1200)acA>acG		F-box protein 3							94.0	89.0	90.0					11																	33768700		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33768700T>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1215A>G	11.37:g.33768700T>C						FBXO3_ENST00000531080.1_Silent_p.T92T|FBXO3_ENST00000534136.1_Silent_p.T405T|FBXO3_ENST00000532057.1_Silent_p.T92T|FBXO3_ENST00000448981.2_Silent_p.T405T|FBXO3_ENST00000526785.1_Silent_p.T292T|FBXO3_ENST00000265651.3_Silent_p.T405T	p.T400T			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	1220	-		Lung NSC(402;0.0804)	405			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.1200A>G	CCDS7887.1																																																																																				0.383	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		26	56	0	0	0	1	0	26	56				
SFTPA1	653509	broad.mit.edu	37	10	81371617	81371617	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:81371617G>A	ENST00000398636.3	+	3	174	c.36G>A	c.(34-36)ttG>ttA	p.L12L	SFTPA1_ENST00000372308.3_Silent_p.L12L|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000419470.2_Silent_p.L27L|SFTPA1_ENST00000428376.2_Silent_p.L12L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	12					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCTCATCTTGATGGCAGCCT	0.637																																						ENST00000398636.3																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(34-36)ttG>ttA		surfactant protein A1							222.0	210.0	214.0					10																	81371617		2203	4296	6499	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81371617G>A	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.36G>A	10.37:g.81371617G>A						SFTPA1_ENST00000419470.2_Silent_p.L27L|SFTPA1_ENST00000372308.3_Silent_p.L12L|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Silent_p.L12L	p.L12L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	174	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		12					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.36G>A	CCDS44445.1																																																																																				0.637	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		14	172	0	0	0	1	0	14	172				
PCDH20	64881	broad.mit.edu	37	13	61986738	61986738	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:61986738C>A	ENST00000409186.1	-	5	3599	c.1494G>T	c.(1492-1494)gaG>gaT	p.E498D	PCDH20_ENST00000409204.4_Missense_Mutation_p.E498D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	498	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACTGCTGTAGCTCATAGTCCA	0.393																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1492-1494)gaG>gaT		protocadherin 20							123.0	124.0	124.0					13																	61986738		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986738C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1494G>T	13.37:g.61986738C>A	ENSP00000386653:p.Glu498Asp					PCDH20_ENST00000409204.4_Missense_Mutation_p.E498D	p.E498D			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3599	-		Breast(118;0.195)|Prostate(109;0.229)	471			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1494G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480835	0.44044	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.69435	-0.4;-0.4	6.06	-0.745	0.11098	.	0.000000	0.64402	D	0.000003	T	0.82235	0.4993	M	0.91872	3.25	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.82981	-0.0187	10	0.87932	D	0	.	11.6969	0.51548	0.0:0.5088:0.0:0.4912	.	498	A8K1K9	.	D	498;498;244	ENSP00000387250:E498D;ENSP00000386653:E498D	ENSP00000351500:E244D	E	-	3	2	PCDH20	60884739	0.039000	0.19947	0.750000	0.31169	0.928000	0.56348	0.452000	0.21795	-0.259000	0.09432	-0.145000	0.13849	GAG		0.393	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		42	145	1	0	2.24893e-16	1	2.53757e-16	42	145				
AGTR1	185	broad.mit.edu	37	3	148459459	148459459	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:148459459A>G	ENST00000497524.1	+	2	1028	c.637A>G	c.(637-639)Aca>Gca	p.T213A	AGTR1_ENST00000542281.1_Missense_Mutation_p.T213A|AGTR1_ENST00000474935.1_Missense_Mutation_p.T213A|AGTR1_ENST00000461609.1_Missense_Mutation_p.T213A|AGTR1_ENST00000349243.3_Missense_Mutation_p.T213A|AGTR1_ENST00000402260.1_Missense_Mutation_p.T213A|AGTR1_ENST00000475347.1_Missense_Mutation_p.T213A|AGTR1_ENST00000404754.2_Missense_Mutation_p.T213A|AGTR1_ENST00000418473.2_Missense_Mutation_p.T213A	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	213					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GATCATTCTTACAAGTTATAC	0.363																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(637-639)Aca>Gca		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						54.0	60.0	58.0					3																	148459459		2196	4299	6495	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459459A>G	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.637A>G	3.37:g.148459459A>G	ENSP00000419422:p.Thr213Ala					AGTR1_ENST00000349243.3_Missense_Mutation_p.T213A|AGTR1_ENST00000475347.1_Missense_Mutation_p.T213A|AGTR1_ENST00000404754.2_Missense_Mutation_p.T213A|AGTR1_ENST00000418473.2_Missense_Mutation_p.T213A|AGTR1_ENST00000474935.1_Missense_Mutation_p.T213A|AGTR1_ENST00000497524.1_Missense_Mutation_p.T213A|AGTR1_ENST00000461609.1_Missense_Mutation_p.T213A|AGTR1_ENST00000402260.1_Missense_Mutation_p.T213A	p.T213A	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1083	+			213					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.637A>G	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534076	0.64972	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.56124	1.755	0.58432	D	0.999999	D	0.60160	0.987	D	0.67231	0.95	T	0.02766	-1.1113	10	0.23891	T	0.37	-16.3515	15.6059	0.76672	1.0:0.0:0.0:0.0	.	213	P30556	AGTR1_HUMAN	A	213	ENSP00000419422:T213A;ENSP00000273430:T213A;ENSP00000443186:T213A;ENSP00000398832:T213A;ENSP00000385612:T213A;ENSP00000419783:T213A;ENSP00000418084:T213A;ENSP00000418851:T213A;ENSP00000385641:T213A	ENSP00000273430:T213A	T	+	1	0	AGTR1	149942149	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.327000	0.79147	2.081000	0.62600	0.533000	0.62120	ACA		0.363	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			4	102	0	0	0	1	0	4	102				
TRAF3IP3	80342	broad.mit.edu	37	1	209953904	209953904	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:209953904G>C	ENST00000367024.1	+	15	1918	c.1402G>C	c.(1402-1404)Gac>Cac	p.D468H	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D468H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D448H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	468						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGATCTCAGAGACCAGCTGCA	0.507																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1402-1404)Gac>Cac		TRAF3 interacting protein 3							89.0	90.0	90.0					1																	209953904		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209953904G>C		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1402G>C	1.37:g.209953904G>C	ENSP00000355991:p.Asp468His					TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D468H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000477431.1_Intron	p.D468H			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	15	1918	+			468					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.1402G>C	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780403	0.70222	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.24	4.31	0.51392	.	0.097288	0.45126	D	0.000385	D	0.82848	0.5126	L	0.60455	1.87	0.43936	D	0.996593	D;D	0.65815	0.995;0.995	P;P	0.61592	0.891;0.891	D	0.84206	0.0453	10	0.72032	D	0.01	-14.7412	11.6501	0.51284	0.0838:0.0:0.9162:0.0	.	468;448	Q9Y228;Q9Y228-2	T3JAM_HUMAN;.	H	468;448;468;448	ENSP00000355992:D468H;ENSP00000355993:D448H;ENSP00000355991:D468H;ENSP00000010338:D448H	ENSP00000010338:D448H	D	+	1	0	TRAF3IP3	208020527	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.967000	0.56802	2.422000	0.82143	0.655000	0.94253	GAC		0.507	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			60	78	0	0	0	1	0	60	78				
ART4	420	broad.mit.edu	37	12	14994042	14994042	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:14994042C>T	ENST00000228936.4	-	2	571	c.190G>A	c.(190-192)Gat>Aat	p.D64N	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	64					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TGGTACTGATCATCAAAAGAA	0.358																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(190-192)Gat>Aat		ADP-ribosyltransferase 4							88.0	89.0	89.0					12																	14994042		2203	4299	6502	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14994042C>T	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.190G>A	12.37:g.14994042C>T	ENSP00000228936:p.Asp64Asn					RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	p.D64N	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	571	-			64					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.190G>A	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421819	0.83559	.	.	ENSG00000111339	ENST00000228936;ENST00000430129;ENST00000420600	T;T	0.14144	2.53;2.53	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.92507	3.315	0.44539	D	0.997493	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58719	-0.7587	10	0.87932	D	0	0.7682	15.1953	0.73081	0.0:1.0:0.0:0.0	.	64;64	A8K6J7;Q93070	.;NAR4_HUMAN	N	64;47;47	ENSP00000228936:D64N;ENSP00000405689:D47N	ENSP00000228936:D64N	D	-	1	0	ART4	14885309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.076000	0.57591	2.716000	0.92895	0.563000	0.77884	GAT		0.358	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		37	203	0	0	0	1	0	37	203				
NFRKB	4798	broad.mit.edu	37	11	129739989	129739989	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:129739989C>T	ENST00000446488.3	-	23	3034	c.2931G>A	c.(2929-2931)atG>atA	p.M977I	NFRKB_ENST00000524746.1_Missense_Mutation_p.M977I|NFRKB_ENST00000304521.5_Missense_Mutation_p.M977I|NFRKB_ENST00000524794.1_Missense_Mutation_p.M1002I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	977					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCAATGTGGCCATCATGTCCG	0.557																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(2929-2931)atG>atA		nuclear factor related to kappaB binding protein							201.0	160.0	174.0					11																	129739989		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129739989C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.2931G>A	11.37:g.129739989C>T	ENSP00000400476:p.Met977Ile					NFRKB_ENST00000524794.1_Missense_Mutation_p.M1002I|NFRKB_ENST00000304521.5_Missense_Mutation_p.M977I|NFRKB_ENST00000524746.1_Missense_Mutation_p.M977I	p.M977I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	3034	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	977					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.2931G>A	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053217	0.93793	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.03	5.03	0.67393	.	0.039568	0.85682	D	0.000000	T	0.66626	0.2808	L	0.32530	0.975	0.58432	D	0.999999	D;D;P;P	0.64830	0.994;0.969;0.718;0.578	D;D;B;B	0.72338	0.977;0.914;0.281;0.281	T	0.63528	-0.6617	9	0.29301	T	0.29	-27.3395	18.3589	0.90368	0.0:1.0:0.0:0.0	.	987;977;976;1002	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	I	977;977;1002;977;987	.	ENSP00000303800:M977I	M	-	3	0	NFRKB	129245199	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.487000	0.81328	2.327000	0.79052	0.655000	0.94253	ATG		0.557	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		62	75	0	0	0	1	0	62	75				
ZNF718	255403	broad.mit.edu	37	4	155026	155026	+	lincRNA	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:155026C>G	ENST00000510175.1	+	0	461							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACGTGCTCTCACGCCTAACT	0.333																																						ENST00000510175.1																			0													zinc finger protein 718							29.0	31.0	30.0					4																	155026		2093	4226	6319			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155026C>G	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155026C>G										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	461	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.333	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		13	17	0	0	0	1	0	13	17				
PEAK1	79834	broad.mit.edu	37	15	77406606	77406606	+	Silent	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:77406606C>G	ENST00000560626.2	-	7	5608	c.5133G>C	c.(5131-5133)ctG>ctC	p.L1711L	PEAK1_ENST00000312493.4_Silent_p.L1711L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1711					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTTCCCTGTCCAGGGACTTCT	0.502																																						ENST00000560626.2																			0											c.(5131-5133)ctG>ctC		pseudopodium-enriched atypical kinase 1							112.0	114.0	114.0					15																	77406606		2001	4171	6172	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77406606C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.5133G>C	15.37:g.77406606C>G						PEAK1_ENST00000312493.4_Silent_p.L1711L	p.L1711L			Q9H792	PEAK1_HUMAN			7	5608	-			1711					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.5133G>C	CCDS42062.1																																																																																				0.502	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			40	92	0	0	0	1	0	40	92				
SHROOM4	57477	broad.mit.edu	37	X	50376688	50376688	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:50376688A>G	ENST00000289292.7	-	4	2668	c.2385T>C	c.(2383-2385)caT>caC	p.H795H	SHROOM4_ENST00000460112.3_Silent_p.H679H|SHROOM4_ENST00000376020.2_Silent_p.H795H			Q9ULL8	SHRM4_HUMAN	shroom family member 4	795					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTTGTTGCTATGAGTGGTTA	0.453																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2383-2385)caT>caC		shroom family member 4							108.0	104.0	106.0					X																	50376688		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376688A>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2385T>C	X.37:g.50376688A>G						SHROOM4_ENST00000289292.7_Silent_p.H795H|SHROOM4_ENST00000460112.3_Silent_p.H679H	p.H795H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2410	-	Ovarian(276;0.236)		795					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.2385T>C	CCDS35277.1																																																																																				0.453	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		51	44	0	0	0	1	0	51	44				
EPHB3	2049	broad.mit.edu	37	3	184294876	184294876	+	Missense_Mutation	SNP	G	G	A	rs373788594		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:184294876G>A	ENST00000330394.2	+	5	1711	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	420	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACGCGCTACACCTTT	0.627																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1258-1260)cGc>cAc		EPH receptor B3		G	HIS/ARG	0,4406		0,0,2203	54.0	53.0	54.0		1259	3.5	0.9	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHB3	NM_004443.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	420/999	184294876	1,13005	2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294876G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1259G>A	3.37:g.184294876G>A	ENSP00000332118:p.Arg420His					EIF2B5_ENST00000444495.1_Intron	p.R420H	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1711	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		420			Fibronectin type-III 1.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1259G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541677	0.45280	0.0	1.16E-4	ENSG00000182580	ENST00000330394	T	0.57436	0.4	5.28	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.218024	0.40908	D	0.000994	T	0.35128	0.0921	N	0.21097	0.63	0.37576	D	0.919604	B	0.21688	0.059	B	0.17722	0.019	T	0.24440	-1.0160	10	0.56958	D	0.05	.	7.1789	0.25761	0.3538:0.0:0.6462:0.0	.	420	P54753	EPHB3_HUMAN	H	420	ENSP00000332118:R420H	ENSP00000332118:R420H	R	+	2	0	EPHB3	185777570	1.000000	0.71417	0.942000	0.38095	0.651000	0.38670	4.335000	0.59298	0.712000	0.32039	0.442000	0.29010	CGC		0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		10	104	0	0	0	1	0	10	104				
FGD6	55785	broad.mit.edu	37	12	95603800	95603800	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:95603800T>C	ENST00000343958.4	-	2	1483	c.1260A>G	c.(1258-1260)aaA>aaG	p.K420K	FGD6_ENST00000546711.1_Silent_p.K420K|FGD6_ENST00000549499.1_Silent_p.K420K|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	420					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTAGAGTCTTTATCAAAAG	0.388																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1258-1260)aaA>aaG		FYVE, RhoGEF and PH domain containing 6							151.0	152.0	151.0					12																	95603800		2203	4300	6503	SO:0001819	synonymous_variant	55785				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.chr12:95603800T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1260A>G	12.37:g.95603800T>C						FGD6_ENST00000549499.1_Silent_p.K420K|FGD6_ENST00000546711.1_Silent_p.K420K	p.K420K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	1483	-			420					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.1260A>G	CCDS31878.1																																																																																				0.388	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		53	132	0	0	0	1	0	53	132				
MN1	4330	broad.mit.edu	37	22	28146992	28146992	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:28146992C>T	ENST00000302326.4	-	2	4828	c.3874G>A	c.(3874-3876)Gcc>Acc	p.A1292T	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1292					intramembranous ossification (GO:0001957)			p.A1292T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGAGCCTTGGCGTCACCCACG	0.592			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		1	Substitution - Missense(1)	p.A1292T(1)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(3874-3876)Gcc>Acc		meningioma (disrupted in balanced translocation) 1							72.0	80.0	77.0					22																	28146992		2086	4209	6295	SO:0001583	missense	4330						binding	g.chr22:28146992C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3874G>A	22.37:g.28146992C>T	ENSP00000304956:p.Ala1292Thr					MN1_ENST00000497225.1_5'UTR	p.A1292T	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			2	4828	-			1292					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3874G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288955	0.23478	.	.	ENSG00000169184	ENST00000302326	T	0.47528	0.84	4.07	1.86	0.25419	.	0.277162	0.28606	N	0.014747	T	0.19005	0.0456	N	0.03608	-0.345	0.21740	N	0.99956	B	0.14805	0.011	B	0.13407	0.009	T	0.17137	-1.0379	10	0.18710	T	0.47	-10.9994	5.5528	0.17099	0.0:0.6418:0.1721:0.1862	.	1292	Q10571	MN1_HUMAN	T	1292	ENSP00000304956:A1292T	ENSP00000304956:A1292T	A	-	1	0	MN1	26476992	0.056000	0.20664	0.829000	0.32907	0.924000	0.55760	0.390000	0.20768	0.404000	0.25506	-0.258000	0.10820	GCC		0.592	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		23	89	0	0	0	1	0	23	89				
ZNF682	91120	broad.mit.edu	37	19	20117799	20117799	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:20117799T>A	ENST00000397165.2	-	4	672	c.512A>T	c.(511-513)aAa>aTa	p.K171I	ZNF682_ENST00000597972.1_Missense_Mutation_p.K177I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K139I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.K139I|ZNF682_ENST00000595736.1_Missense_Mutation_p.K95I	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTGAAAAGTTTCTCTGTAGT	0.313																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(511-513)aAa>aTa		zinc finger protein 682							65.0	62.0	63.0					19																	20117799		1852	4108	5960	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117799T>A	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.512A>T	19.37:g.20117799T>A	ENSP00000380351:p.Lys171Ile					ZNF682_ENST00000597972.1_Missense_Mutation_p.K177I|ZNF682_ENST00000397162.1_Missense_Mutation_p.K139I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K139I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.K95I	p.K171I	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	672	-			171					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.512A>T	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883452	0.33255	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.27720	1.65;1.65;1.65	1.23	1.23	0.21249	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55369	0.1916	M	0.91717	3.235	0.24595	N	0.993804	D	0.76494	0.999	D	0.74023	0.982	T	0.43032	-0.9416	9	0.87932	D	0	.	3.0972	0.06313	0.0:0.2759:0.0:0.7241	.	171	O95780	ZN682_HUMAN	I	171;139;139	ENSP00000380351:K171I;ENSP00000380348:K139I;ENSP00000351324:K139I	ENSP00000351324:K139I	K	-	2	0	ZNF682	19978799	0.000000	0.05858	0.019000	0.16419	0.011000	0.07611	0.195000	0.17155	0.532000	0.28657	0.358000	0.22013	AAA		0.313	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		24	83	0	0	0	1	0	24	83				
RFXAP	5994	broad.mit.edu	37	13	37401869	37401869	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:37401869G>C	ENST00000255476.2	+	3	932	c.798G>C	c.(796-798)caG>caC	p.Q266H	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	266	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GACAACAGCAGTTTCCAGGAA	0.343																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(796-798)caG>caC		regulatory factor X-associated protein							94.0	89.0	91.0					13																	37401869		2203	4299	6502	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37401869G>C	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.798G>C	13.37:g.37401869G>C	ENSP00000255476:p.Gln266His					RFXAP_ENST00000472888.1_3'UTR	p.Q266H	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	3	932	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	266			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.798G>C	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621304	0.46736	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.62	2.95	0.34219	.	0.418178	0.26959	N	0.021638	T	0.25382	0.0617	N	0.22421	0.69	0.29319	N	0.867507	B	0.18013	0.025	B	0.19946	0.027	T	0.13388	-1.0511	9	0.39692	T	0.17	-9.9893	5.5163	0.16908	0.1492:0.0:0.5718:0.279	.	266	O00287	RFXAP_HUMAN	H	266	.	ENSP00000255476:Q266H	Q	+	3	2	RFXAP	36299869	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.144000	0.42197	0.306000	0.22856	0.650000	0.86243	CAG		0.343	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		9	38	0	0	0	1	0	9	38				
DFNB31	25861	broad.mit.edu	37	9	117241008	117241008	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:117241008G>T	ENST00000362057.3	-	2	830	c.662C>A	c.(661-663)gCa>gAa	p.A221E	DFNB31_ENST00000374057.3_Missense_Mutation_p.A221E|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	221	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGCGCCCTGCTGAGTACAC	0.642																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(661-663)gCa>gAa		deafness, autosomal recessive 31							38.0	33.0	34.0					9																	117241008		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117241008G>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.662C>A	9.37:g.117241008G>T	ENSP00000354623:p.Ala221Glu					DFNB31_ENST00000374057.3_Missense_Mutation_p.A221E|DFNB31_ENST00000265134.6_5'UTR	p.A221E	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			2	830	-			221			PDZ 1.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.662C>A	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614917	0.46631	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.16324	2.35;2.35	5.66	4.66	0.58398	PDZ/DHR/GLGF (2);	0.264081	0.38492	N	0.001680	T	0.08447	0.0210	N	0.04994	-0.135	0.25432	N	0.988179	D;P;P	0.53312	0.959;0.565;0.745	P;B;B	0.49252	0.604;0.201;0.347	T	0.29731	-1.0002	10	0.02654	T	1	-18.5376	6.7876	0.23682	0.1991:0.0:0.8009:0.0	.	221;221;221	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	E	221	ENSP00000354623:A221E;ENSP00000363170:A221E	ENSP00000354623:A221E	A	-	2	0	DFNB31	116280829	0.981000	0.34729	0.475000	0.27278	0.921000	0.55340	6.120000	0.71596	2.662000	0.90505	0.555000	0.69702	GCA		0.642	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		6	27	1	0	0.000157383	1	0.000164395	6	27				
GALK2	2585	broad.mit.edu	37	15	49531556	49531556	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:49531556C>T	ENST00000560031.1	+	5	803	c.496C>T	c.(496-498)Cta>Tta	p.L166L	GALK2_ENST00000327171.3_Silent_p.L155L|GALK2_ENST00000396509.2_Silent_p.L142L|GALK2_ENST00000543495.1_Silent_p.L37L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000544523.1_Silent_p.L142L|GALK2_ENST00000559454.1_Silent_p.L142L			Q01415	GALK2_HUMAN	galactokinase 2	166					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GGGAAGGAATCTATCCAAGGT	0.453																																						ENST00000327171.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)Cta>Tta		galactokinase 2							96.0	74.0	81.0					15																	49531556		2196	4295	6491	SO:0001819	synonymous_variant	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49531556C>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.496C>T	15.37:g.49531556C>T						GALK2_ENST00000543495.1_Silent_p.L37L|GALK2_ENST00000396509.2_Silent_p.L142L|GALK2_ENST00000560031.1_Silent_p.L166L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000559454.1_Silent_p.L142L|GALK2_ENST00000544523.1_Silent_p.L142L	p.L155L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	5	695	+		all_lung(180;0.000325)	166					Q7Z4Q4	Silent	SNP	ENST00000560031.1	37	c.463C>T	CCDS42034.1																																																																																				0.453	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			20	39	0	0	0	1	0	20	39				
DENND4A	10260	broad.mit.edu	37	15	65989607	65989607	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:65989607G>A	ENST00000431932.2	-	20	3024	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	DENND4A_ENST00000443035.3_Missense_Mutation_p.S982F|snoU13_ENST00000459325.1_RNA	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	939					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATACCTACAGGAACTACAATC	0.289																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(2944-2946)tCc>tTc		DENN/MADD domain containing 4A							99.0	97.0	98.0					15																	65989607		1807	4058	5865	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65989607G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2816C>T	15.37:g.65989607G>A	ENSP00000396830:p.Ser939Phe					DENND4A_ENST00000431932.2_Missense_Mutation_p.S939F	p.S982F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			21	3160	-			939					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.2945C>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245963	0.59103	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05996	3.39;3.36	5.62	5.62	0.85841	.	1.216710	0.05305	N	0.523725	T	0.24431	0.0592	L	0.55481	1.735	0.52099	D	0.999949	P;D	0.67145	0.612;0.996	B;P	0.59703	0.347;0.862	T	0.01105	-1.1450	10	0.66056	D	0.02	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	982;939	E7EPL3;Q7Z401	.;MYCPP_HUMAN	F	982;939	ENSP00000391167:S982F;ENSP00000396830:S939F	ENSP00000396830:S939F	S	-	2	0	DENND4A	63776661	1.000000	0.71417	0.996000	0.52242	0.428000	0.31595	7.060000	0.76692	2.809000	0.96659	0.467000	0.42956	TCC		0.289	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		5	46	0	0	0	1	0	5	46				
NCAPD3	23310	broad.mit.edu	37	11	134023256	134023256	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:134023256T>A	ENST00000534548.2	-	33	4319	c.4255A>T	c.(4255-4257)Agc>Tgc	p.S1419C	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1419					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCACTGATGCTCTCTGCATAA	0.552																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4255-4257)Agc>Tgc		non-SMC condensin II complex, subunit D3							179.0	148.0	159.0					11																	134023256		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134023256T>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4255A>T	11.37:g.134023256T>A	ENSP00000433681:p.Ser1419Cys					NCAPD3_ENST00000526787.2_5'UTR	p.S1419C	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	33	4319	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1419					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4255A>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604354	0.28534	.	.	ENSG00000151503	ENST00000534548	T	0.35421	1.31	5.44	1.72	0.24424	.	0.431400	0.26847	N	0.022181	T	0.25754	0.0627	L	0.44542	1.39	0.58432	D	0.999993	P;B	0.46706	0.883;0.422	B;B	0.38712	0.28;0.219	T	0.02868	-1.1100	10	0.87932	D	0	-14.4885	6.8998	0.24277	0.4247:0.0:0.1158:0.4595	.	1419;479	P42695;Q96FA6	CNDD3_HUMAN;.	C	1419	ENSP00000433681:S1419C	ENSP00000433681:S1419C	S	-	1	0	NCAPD3	133528466	0.909000	0.30893	0.602000	0.28890	0.153000	0.21895	1.106000	0.31098	0.083000	0.17047	0.459000	0.35465	AGC		0.552	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		64	97	0	0	0	1	0	64	97				
DAB1	1600	broad.mit.edu	37	1	57480848	57480848	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:57480848G>A	ENST00000371231.1	-	13	1285	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	DAB1_ENST00000414851.2_Silent_p.L366L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.L382L|DAB1_ENST00000371234.4_Silent_p.L384L|DAB1_ENST00000439789.2_Silent_p.L298L|DAB1_ENST00000371236.2_Silent_p.L384L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	417					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CAAGGGGGGTGAGGGGACCTT	0.587																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1150-1152)ctC>ctT		Dab, reelin signal transducer, homolog 1 (Drosophila)							80.0	70.0	73.0					1																	57480848		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57480848G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1251C>T	1.37:g.57480848G>A						DAB1_ENST00000371234.4_Silent_p.L384L|DAB1_ENST00000420954.2_Silent_p.L382L|DAB1_ENST00000439789.2_Silent_p.L298L|DAB1_ENST00000371231.1_Silent_p.L417L|DAB1_ENST00000414851.2_Silent_p.L366L|DAB1_ENST00000485760.1_5'UTR	p.L384L			O75553	DAB1_HUMAN			12	1415	-			417					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1152C>T																																																																																					0.587	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		36	79	0	0	0	1	0	36	79				
AMPH	273	broad.mit.edu	37	7	38475887	38475887	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:38475887G>C	ENST00000356264.2	-	12	1334	c.1119C>G	c.(1117-1119)caC>caG	p.H373Q	AMPH_ENST00000325590.5_Missense_Mutation_p.H373Q|AMPH_ENST00000428293.2_Missense_Mutation_p.H373Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	373					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACATGGGTGAGTGGGTCACTC	0.468																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1117-1119)caC>caG		amphiphysin							82.0	74.0	77.0					7																	38475887		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38475887G>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1119C>G	7.37:g.38475887G>C	ENSP00000348602:p.His373Gln					AMPH_ENST00000325590.5_Missense_Mutation_p.H373Q|AMPH_ENST00000428293.2_Missense_Mutation_p.H373Q	p.H373Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			12	1334	-			373					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1119C>G	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.26|11.26	1.587150|1.587150	0.28268|0.28268	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.58797|.	0.35;0.31;0.34|.	5.54|5.54	4.66|4.66	0.58398|0.58398	.|.	0.167835|.	0.40469|.	N|.	0.001092|.	T|T	0.40979|0.40979	0.1139|0.1139	L|L	0.27053|0.27053	0.805|0.805	0.42755|0.42755	D|D	0.993787|0.993787	B;B;D|.	0.89917|.	0.138;0.085;1.0|.	B;B;D|.	0.66196|.	0.044;0.036;0.942|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.15066|.	T|.	0.55|.	-19.2448|-19.2448	5.2631|5.2631	0.15584|0.15584	0.2771:0.0:0.7229:0.0|0.2771:0.0:0.7229:0.0	.|.	373;373;129|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	Q|V	373;373;373;143;376|124	ENSP00000317441:H373Q;ENSP00000348602:H373Q;ENSP00000390734:H373Q|.	ENSP00000317441:H373Q|.	H|L	-|-	3|1	2|0	AMPH|AMPH	38442412|38442412	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.328000|1.328000	0.33758|0.33758	2.609000|2.609000	0.88269|0.88269	0.655000|0.655000	0.94253|0.94253	CAC|CTC		0.468	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		15	62	0	0	0	1	0	15	62				
OR5AS1	219447	broad.mit.edu	37	11	55798328	55798328	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:55798328T>C	ENST00000313555.1	+	1	434	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTCTGCTTCATTGTGTTGGCA	0.458																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(433-435)aTt>aCt		olfactory receptor, family 5, subfamily AS, member 1							209.0	179.0	189.0					11																	55798328		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798328T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.434T>C	11.37:g.55798328T>C	ENSP00000324111:p.Ile145Thr						p.I145T	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	434	+	Esophageal squamous(21;0.00693)		145					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.434T>C	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	2.520	-0.311021	0.05458	.	.	ENSG00000181785	ENST00000313555	T	0.43688	0.94	5.46	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.758295	0.10751	U	0.638348	T	0.27765	0.0683	N	0.13272	0.32	0.09310	N	1	B	0.27625	0.183	B	0.28916	0.096	T	0.23868	-1.0176	10	0.51188	T	0.08	.	7.7697	0.29001	0.0:0.1646:0.0:0.8354	.	145	Q8N127	O5AS1_HUMAN	T	145	ENSP00000324111:I145T	ENSP00000324111:I145T	I	+	2	0	OR5AS1	55554904	0.001000	0.12720	0.005000	0.12908	0.118000	0.20060	0.598000	0.24074	0.905000	0.36596	-0.269000	0.10298	ATT		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		48	100	0	0	0	1	0	48	100				
CABP4	57010	broad.mit.edu	37	11	67225884	67225884	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:67225884C>T	ENST00000325656.5	+	5	771	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CABP4_ENST00000438189.2_Missense_Mutation_p.R127W|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	232	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCGGAGCTGCGGGAGGCGGT	0.642																																						ENST00000438189.2																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(379-381)Cgg>Tgg		calcium binding protein 4							58.0	61.0	60.0					11																	67225884		2200	4295	6495	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67225884C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.694C>T	11.37:g.67225884C>T	ENSP00000324960:p.Arg232Trp					CABP4_ENST00000325656.5_Missense_Mutation_p.R232W	p.R127W			P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		6	723	+			232					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.379C>T	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363664	0.61513	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	T;T	0.35605	1.3;1.3	4.85	3.91	0.45181	EF-hand-like domain (1);	0.071479	0.56097	D	0.000033	T	0.61540	0.2355	M	0.84433	2.695	0.44711	D	0.997706	D;D	0.89917	1.0;1.0	D;P	0.66847	0.947;0.872	T	0.69584	-0.5106	10	0.87932	D	0	-19.634	13.5633	0.61802	0.1573:0.8427:0.0:0.0	.	232;127	P57796;P57796-2	CABP4_HUMAN;.	W	127;232	ENSP00000401555:R127W;ENSP00000324960:R232W	ENSP00000324960:R232W	R	+	1	2	CABP4	66982460	0.912000	0.30974	0.998000	0.56505	0.421000	0.31385	0.839000	0.27586	1.355000	0.45865	0.655000	0.94253	CGG		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			5	207	0	0	0	1	0	5	207				
TAF15	8148	broad.mit.edu	37	17	34171794	34171794	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34171794C>G	ENST00000588240.1	+	15	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.D494E	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		atggtggagaccgaggaggct	0.612			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1489-1491)gaC>gaG		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							73.0	62.0	66.0					17																	34171794		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171794C>G	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1491C>G	17.37:g.34171794C>G	ENSP00000466950:p.Asp497Glu					TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.D494E	p.D497E	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1606	+		Ovarian(249;0.17)	497			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1491C>G	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	8.193	0.796332	0.16327	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.55	1.41	0.22369	.	.	.	.	.	T	0.21427	0.0516	N	0.22421	0.69	0.09310	N	0.999994	B;B	0.34015	0.308;0.435	B;B	0.25884	0.029;0.064	T	0.10965	-1.0607	8	0.87932	D	0	-3.0506	8.6715	0.34154	0.0:0.7309:0.0:0.2691	.	497;494	Q92804;Q92804-2	RBP56_HUMAN;.	E	497;300	.	ENSP00000309558:D497E	D	+	3	2	TAF15	31195907	0.011000	0.17503	0.469000	0.27204	0.128000	0.20619	-0.184000	0.09698	0.234000	0.21139	-0.218000	0.12543	GAC		0.612	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		6	33	0	0	0	1	0	6	33				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.P503R(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1507-1509)cCt>cGt		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_ENST00000441304.2_3'UTR	p.P503R	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1683	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			4	107	0	0	0	1	0	4	107				
ARHGAP32	9743	broad.mit.edu	37	11	128844460	128844460	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:128844460G>A	ENST00000310343.9	-	20	2589	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P515S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P790S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P515S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	864					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTAAAGAATGGACTCAGTTTC	0.458																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2590-2592)Cca>Tca		Rho GTPase activating protein 32							136.0	128.0	130.0					11																	128844460		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844460G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2590C>T	11.37:g.128844460G>A	ENSP00000310561:p.Pro864Ser					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P515S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P515S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P790S	p.P864S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2589	-			864					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2590C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443133	0.63067	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.41026	0.1141	L	0.52364	1.645	0.48762	D	0.999702	D;D	0.69078	0.965;0.997	P;D	0.65010	0.656;0.931	T	0.01966	-1.1238	10	0.33940	T	0.23	.	19.743	0.96238	0.0:0.0:1.0:0.0	.	798;864	Q86T64;A7KAX9	.;RHG32_HUMAN	S	864;515;790;798;515	ENSP00000310561:P864S;ENSP00000376425:P515S;ENSP00000432468:P790S;ENSP00000432862:P515S	ENSP00000310561:P864S	P	-	1	0	ARHGAP32	128349670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.562000	0.82300	2.671000	0.90904	0.555000	0.69702	CCA		0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		24	121	0	0	0	1	0	24	121				
GABRA4	2557	broad.mit.edu	37	4	46979462	46979462	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:46979462T>C	ENST00000264318.3	-	4	1441	c.459A>G	c.(457-459)agA>agG	p.R153R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	153					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTCTCATAATTCTAAAAAGCT	0.313																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(457-459)agA>agG		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						65.0	67.0	67.0					4																	46979462		2202	4300	6502	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979462T>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.459A>G	4.37:g.46979462T>C							p.R153R	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			4	1441	-			153					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.459A>G	CCDS3473.1																																																																																				0.313	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			22	32	0	0	0	1	0	22	32				
PHIP	55023	broad.mit.edu	37	6	79708071	79708071	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:79708071C>G	ENST00000275034.4	-	18	2084	c.1917G>C	c.(1915-1917)gaG>gaC	p.E639D		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	639					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTGGGCTGATCTCCTGGTTTG	0.398																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1915-1917)gaG>gaC		pleckstrin homology domain interacting protein							133.0	113.0	120.0					6																	79708071		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79708071C>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1917G>C	6.37:g.79708071C>G	ENSP00000275034:p.Glu639Asp						p.E639D	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	18	2084	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	639					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1917G>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534560	0.27475	.	.	ENSG00000146247	ENST00000275034	T	0.29655	1.56	5.76	-5.38	0.02673	.	0.269718	0.37095	N	0.002248	T	0.03136	0.0092	N	0.17872	0.535	0.22017	N	0.999412	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35748	-0.9776	9	.	.	.	-2.6559	0.0177	0.00002	0.3032:0.2161:0.193:0.2876	.	639;639	A7J992;Q8WWQ0	.;PHIP_HUMAN	D	639	ENSP00000275034:E639D	.	E	-	3	2	PHIP	79764790	0.013000	0.17824	0.299000	0.25016	0.997000	0.91878	-1.053000	0.03500	-0.892000	0.03935	0.655000	0.94253	GAG		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			39	110	0	0	0	1	0	39	110				
RIC3	79608	broad.mit.edu	37	11	8132318	8132318	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:8132318C>A	ENST00000309737.6	-	6	1036	c.1037G>T	c.(1036-1038)gGg>gTg	p.G346V	RIC3_ENST00000343202.4_Missense_Mutation_p.G345V|RIC3_ENST00000396677.2_Missense_Mutation_p.G184V|RIC3_ENST00000425599.2_Missense_Mutation_p.G265V|RIC3_ENST00000335425.7_Missense_Mutation_p.G164V|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.G297V			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	346			G -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G345V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GATGCCCAACCCTTCATCTTT	0.488																																						ENST00000396677.2																			1	Substitution - Missense(1)	p.G345V(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(550-552)gGg>gTg		RIC3 acetylcholine receptor chaperone							159.0	141.0	147.0					11																	8132318		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132318C>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.1037G>T	11.37:g.8132318C>A	ENSP00000308820:p.Gly346Val					RIC3_ENST00000335425.7_Missense_Mutation_p.G164V|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.G346V|RIC3_ENST00000343202.4_Missense_Mutation_p.G345V|RIC3_ENST00000425599.2_Missense_Mutation_p.G265V|RIC3_ENST00000539720.1_Missense_Mutation_p.G297V	p.G184V			Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	550	-			346					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.551G>T	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	2.704	-0.270277	0.05716	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000539720;ENST00000425599	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	6.06	1.99	0.26369	.	0.488810	0.19906	N	0.103406	T	0.26666	0.0652	L	0.51422	1.61	0.25121	N	0.990648	B;B;P;P;B	0.42203	0.012;0.029;0.773;0.773;0.135	B;B;B;B;B	0.41894	0.011;0.011;0.369;0.369;0.033	T	0.12426	-1.0548	10	0.66056	D	0.02	.	6.033	0.19690	0.1324:0.5886:0.0:0.279	.	265;164;346;345;184	B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;RIC3_HUMAN;.;.	V	184;164;345;346;297;265	ENSP00000344904:G345V;ENSP00000308820:G346V;ENSP00000443871:G297V;ENSP00000395320:G265V	ENSP00000308820:G346V	G	-	2	0	RIC3	8088894	0.018000	0.18449	0.008000	0.14137	0.012000	0.07955	0.628000	0.24522	0.909000	0.36697	0.655000	0.94253	GGG		0.488	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		42	113	1	0	1.15505e-17	1	1.3103e-17	42	113				
PIGQ	9091	broad.mit.edu	37	16	624441	624441	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:624441G>A	ENST00000026218.5	+	2	455	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PIGQ_ENST00000470411.2_Missense_Mutation_p.E123K|PIGQ_ENST00000321878.5_Missense_Mutation_p.E123K|PIGQ_ENST00000409527.2_Missense_Mutation_p.E123K	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	123					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGCCCCTGGTGAGGACCAGGT	0.687																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(367-369)Gag>Aag		phosphatidylinositol glycan anchor biosynthesis, class Q							22.0	18.0	19.0					16																	624441		2196	4293	6489	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624441G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.367G>A	16.37:g.624441G>A	ENSP00000026218:p.Glu123Lys					PIGQ_ENST00000026218.5_Missense_Mutation_p.E123K|PIGQ_ENST00000409527.2_Missense_Mutation_p.E123K|PIGQ_ENST00000470411.2_Missense_Mutation_p.E123K	p.E123K	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	526	+		Hepatocellular(780;0.00335)	123					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.367G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	9.589	1.125553	0.20959	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T	0.52295	0.7;0.68;0.7;0.7;0.68;1.91;0.67	5.18	3.15	0.36227	.	0.290710	0.37178	N	0.002218	T	0.47710	0.1460	M	0.61703	1.905	0.22675	N	0.998869	B;B;B;P	0.36909	0.012;0.067;0.003;0.573	B;B;B;B	0.37943	0.009;0.012;0.009;0.261	T	0.46162	-0.9211	10	0.87932	D	0	-15.4991	14.2471	0.65995	0.0:0.4339:0.5661:0.0	.	137;123;123;123	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	K	123	ENSP00000293874:E123K;ENSP00000386760:E123K;ENSP00000386554:E123K;ENSP00000413753:E123K;ENSP00000326674:E123K;ENSP00000026218:E123K;ENSP00000439650:E123K	ENSP00000026218:E123K	E	+	1	0	PIGQ	564442	0.995000	0.38212	0.059000	0.19551	0.367000	0.29736	1.984000	0.40658	0.530000	0.28619	0.491000	0.48974	GAG		0.687	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		5	16	0	0	0	1	0	5	16				
ARVCF	421	broad.mit.edu	37	22	19969065	19969065	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:19969065A>T	ENST00000263207.3	-	5	856	c.565T>A	c.(565-567)Ttt>Att	p.F189I	ARVCF_ENST00000401994.1_Missense_Mutation_p.F126I|ARVCF_ENST00000406522.1_Missense_Mutation_p.F126I|ARVCF_ENST00000406259.1_Missense_Mutation_p.F189I|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.F126I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	189					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTTCGGGAAAGCCACCCCCA	0.701																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(565-567)Ttt>Att		armadillo repeat gene deleted in velocardiofacial syndrome							8.0	11.0	10.0					22																	19969065		1991	4004	5995	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969065A>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.565T>A	22.37:g.19969065A>T	ENSP00000263207:p.Phe189Ile					ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Missense_Mutation_p.F126I|ARVCF_ENST00000401994.1_Missense_Mutation_p.F126I|ARVCF_ENST00000344269.3_Missense_Mutation_p.F126I|ARVCF_ENST00000406259.1_Missense_Mutation_p.F189I	p.F189I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	856	-	Colorectal(54;0.0993)		189					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.565T>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241644	0.39598	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.03	4.03	0.46877	.	0.629307	0.16893	N	0.195259	T	0.15998	0.0385	N	0.22421	0.69	0.41717	D	0.989485	P	0.38335	0.627	B	0.32022	0.139	T	0.09975	-1.0650	9	.	.	.	-13.7169	14.0252	0.64582	1.0:0.0:0.0:0.0	.	189	O00192	ARVC_HUMAN	I	189;126;126;126;189	ENSP00000263207:F189I;ENSP00000342042:F126I;ENSP00000384341:F126I;ENSP00000384732:F126I;ENSP00000385444:F189I	.	F	-	1	0	ARVCF	18349065	0.996000	0.38824	0.851000	0.33527	0.033000	0.12548	2.774000	0.47694	2.054000	0.61138	0.450000	0.29827	TTT		0.701	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		8	40	0	0	0	1	0	8	40				
FGD2	221472	broad.mit.edu	37	6	36978763	36978763	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:36978763G>A	ENST00000274963.8	+	3	486	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	105	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGAGAAGAAGATCGTCCAGG	0.607																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(313-315)aaG>aaA		FYVE, RhoGEF and PH domain containing 2							72.0	74.0	74.0					6																	36978763		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36978763G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.315G>A	6.37:g.36978763G>A							p.K105K	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			3	486	+			105			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.315G>A	CCDS4829.1																																																																																				0.607	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		21	56	0	0	0	1	0	21	56				
COL16A1	1307	broad.mit.edu	37	1	32148570	32148570	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:32148570C>T	ENST00000373672.3	-	37	3019	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	COL16A1_ENST00000373668.3_Missense_Mutation_p.V835M|COL16A1_ENST00000271069.6_Missense_Mutation_p.V834M	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	835	Collagen-like 4.|Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGAGGTCCCACAGGTCCGGTG	0.567																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(2503-2505)Gtg>Atg		collagen, type XVI, alpha 1							52.0	58.0	56.0					1																	32148570		1958	4139	6097	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32148570C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2503G>A	1.37:g.32148570C>T	ENSP00000362776:p.Val835Met					COL16A1_ENST00000373668.3_Missense_Mutation_p.V835M|COL16A1_ENST00000271069.6_Missense_Mutation_p.V834M	p.V835M	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	37	3019	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	835			Triple-helical region 5 (COL5) with 3 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.2503G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	7.896	0.733412	0.15574	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.06	-6.34	0.01982	.	1.174770	0.05903	N	0.630246	D	0.84106	0.5399	N	0.12887	0.27	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.006;0.009;0.005	T	0.71080	-0.4696	10	0.42905	T	0.14	.	9.6225	0.39730	0.0:0.1911:0.1193:0.6896	.	835;835;835	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	M	835;834;56;835	ENSP00000362776:V835M;ENSP00000271069:V834M;ENSP00000411457:V56M;ENSP00000362772:V835M	ENSP00000271069:V834M	V	-	1	0	COL16A1	31921157	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-1.144000	0.03197	-0.910000	0.03847	-1.008000	0.02478	GTG		0.567	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		15	58	0	0	0	1	0	15	58				
SOX6	55553	broad.mit.edu	37	11	16208374	16208374	+	Silent	SNP	C	C	T	rs141152204	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:16208374C>T	ENST00000352083.6	-	5	740	c.663G>A	c.(661-663)gaG>gaA	p.E221E	SOX6_ENST00000528429.1_Silent_p.E221E|SOX6_ENST00000396356.3_Silent_p.E221E|SOX6_ENST00000316399.6_Silent_p.E221E|SOX6_ENST00000527619.1_Silent_p.E224E|SOX6_ENST00000528252.1_Silent_p.E221E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	221	Gln-rich.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCCGTTGTTTCTCAATTTGTG	0.522													C|||	4	0.000798722	0.0	0.0	5008	,	,		15456	0.003		0.0	False		,,,				2504	0.001					ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(661-663)gaG>gaA		SRY (sex determining region Y)-box 6							206.0	194.0	198.0					11																	16208374		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16208374C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.663G>A	11.37:g.16208374C>T						SOX6_ENST00000528429.1_Silent_p.E221E|SOX6_ENST00000316399.6_Silent_p.E221E|SOX6_ENST00000396356.3_Silent_p.E221E|SOX6_ENST00000527619.1_Silent_p.E224E|SOX6_ENST00000528252.1_Silent_p.E221E	p.E221E			P35712	SOX6_HUMAN			5	740	-			221			Gln-rich.		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.663G>A																																																																																					0.522	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		50	190	0	0	0	1	0	50	190				
TACC2	10579	broad.mit.edu	37	10	123844397	123844397	+	Silent	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:123844397G>C	ENST00000369005.1	+	4	2722	c.2382G>C	c.(2380-2382)acG>acC	p.T794T	TACC2_ENST00000515603.1_Silent_p.T794T|TACC2_ENST00000334433.3_Silent_p.T794T|TACC2_ENST00000515273.1_Silent_p.T794T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.T794T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	794					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGGGCTCACGGCACTCATCC	0.617																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2380-2382)acG>acC		transforming, acidic coiled-coil containing protein 2							56.0	58.0	57.0					10																	123844397		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844397G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2382G>C	10.37:g.123844397G>C						TACC2_ENST00000453444.2_Silent_p.T794T|TACC2_ENST00000515603.1_Silent_p.T794T|TACC2_ENST00000515273.1_Silent_p.T794T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.T794T|TACC2_ENST00000358010.1_Intron	p.T794T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2722	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	794					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2382G>C	CCDS7626.1																																																																																				0.617	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	48	0	0	0	1	0	25	48				
GOPC	57120	broad.mit.edu	37	6	117900158	117900158	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:117900158C>T	ENST00000368498.2	-	2	430	c.355G>A	c.(355-357)Gta>Ata	p.V119I	GOPC_ENST00000535237.1_Missense_Mutation_p.V119I|GOPC_ENST00000052569.6_Missense_Mutation_p.V119I	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	119					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGATCATGTACTTCTTTCTCC	0.393			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(355-357)Gta>Ata		golgi-associated PDZ and coiled-coil motif containing							119.0	109.0	113.0					6																	117900158		2203	4299	6502	SO:0001583	missense	57120							g.chr6:117900158C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.355G>A	6.37:g.117900158C>T	ENSP00000357484:p.Val119Ile					GOPC_ENST00000368498.2_Missense_Mutation_p.V119I|GOPC_ENST00000052569.6_Missense_Mutation_p.V119I	p.V119I						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	2	584	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.355G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810584	0.90707	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;D;T	0.83250	-1.7;-1.7;2.29	5.71	5.71	0.89125	.	0.051408	0.85682	D	0.000000	T	0.79064	0.4383	L	0.50333	1.59	0.50467	D	0.999878	P;P	0.48764	0.915;0.861	P;B	0.45712	0.491;0.297	T	0.78763	-0.2077	10	0.40728	T	0.16	-28.404	19.8426	0.96695	0.0:1.0:0.0:0.0	.	119;119	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	I	119	ENSP00000052569:V119I;ENSP00000357484:V119I;ENSP00000445690:V119I	ENSP00000052569:V119I	V	-	1	0	GOPC	118006851	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.995000	0.70631	2.686000	0.91538	0.585000	0.79938	GTA		0.393	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		6	77	0	0	0	1	0	6	77				
RNF19A	25897	broad.mit.edu	37	8	101299800	101299800	+	Silent	SNP	G	G	A	rs568403328		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:101299800G>A	ENST00000519449.1	-	3	919	c.603C>T	c.(601-603)taC>taT	p.Y201Y	RNF19A_ENST00000341084.2_Silent_p.Y201Y	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	201					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TAAATTCTTCGTATTTTTCCA	0.388																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(601-603)taC>taT		ring finger protein 19A, RBR E3 ubiquitin protein ligase							119.0	117.0	118.0					8																	101299800		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299800G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.603C>T	8.37:g.101299800G>A						RNF19A_ENST00000341084.2_Silent_p.Y201Y	p.Y201Y	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	919	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		201					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.603C>T	CCDS6286.1																																																																																				0.388	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		56	135	0	0	0	1	0	56	135				
NFE2L2	4780	broad.mit.edu	37	2	178098807	178098807	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:178098807T>C	ENST00000397062.3	-	2	792	c.238A>G	c.(238-240)Aca>Gca	p.T80A	NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	80					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T80P(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATTCACCTGTCTCTTCATCT	0.438			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		5	Substitution - Missense(5)	p.T80P(5)	liver(3)|oesophagus(1)|endometrium(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(238-240)Aca>Gca		nuclear factor, erythroid 2-like 2							146.0	145.0	145.0					2																	178098807		1902	4110	6012	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098807T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.238A>G	2.37:g.178098807T>C	ENSP00000380252:p.Thr80Ala	HNSCC(56;0.16)				NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64A	p.T80A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	792	-			80					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.238A>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828269	0.71143	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.994;0.985;0.996;0.994	T	0.67260	-0.5715	10	0.52906	T	0.07	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	64;64;64;80	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	64;80;64;64;64;64;64	ENSP00000380253:T64A;ENSP00000380252:T80A;ENSP00000411575:T64A;ENSP00000391590:T64A;ENSP00000400073:T64A;ENSP00000412191:T64A;ENSP00000410015:T64A	ENSP00000380252:T80A	T	-	1	0	NFE2L2	177807053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	ACA		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		30	261	0	0	0	1	0	30	261				
WIPI1	55062	broad.mit.edu	37	17	66422259	66422259	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:66422259G>A	ENST00000262139.5	-	12	1249	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Missense_Mutation_p.A335V|WIPI1_ENST00000589459.1_5'UTR|MIR635_ENST00000384830.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	417					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGGTCCCGTCGCAAACTCATG	0.507																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1249-1251)gCg>gTg		WD repeat domain, phosphoinositide interacting 1							121.0	95.0	104.0					17																	66422259		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66422259G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1250C>T	17.37:g.66422259G>A	ENSP00000262139:p.Ala417Val					RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A335V	p.A417V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			12	1249	-			417					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.1250C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176460	0.78564	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.58060	0.77;0.36	5.79	5.79	0.91817	.	0.099984	0.64402	D	0.000002	T	0.50548	0.1622	L	0.47716	1.5	0.80722	D	1	B	0.28801	0.223	B	0.26693	0.072	T	0.45086	-0.9285	10	0.46703	T	0.11	-21.3434	20.04	0.97581	0.0:0.0:1.0:0.0	.	417	Q5MNZ9	WIPI1_HUMAN	V	417;335	ENSP00000262139:A417V;ENSP00000437345:A335V	ENSP00000262139:A417V	A	-	2	0	WIPI1	63933854	1.000000	0.71417	0.957000	0.39632	0.791000	0.44710	8.955000	0.93058	2.733000	0.93635	0.655000	0.94253	GCG		0.507	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		23	62	0	0	0	1	0	23	62				
POU6F2	11281	broad.mit.edu	37	7	39247049	39247049	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:39247049C>T	ENST00000403058.1	+	5	495	c.341C>T	c.(340-342)cCc>cTc	p.P114L	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.P114L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P106L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	114					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P114H(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGGGAGGCCCCCCAGCCCTC	0.582																																						ENST00000518318.2																			1	Substitution - Missense(1)	p.P114H(1)	lung(1)	NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(340-342)cCc>cTc		POU class 6 homeobox 2							100.0	103.0	102.0					7																	39247049		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247049C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.341C>T	7.37:g.39247049C>T	ENSP00000384004:p.Pro114Leu					POU6F2_ENST00000403058.1_Missense_Mutation_p.P114L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P106L|POU6F2_ENST00000517348.1_3'UTR	p.P114L			P78424	PO6F2_HUMAN			4	383	+			114					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.341C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722486	0.68959	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.85013	-1.87;-1.93	6.17	6.17	0.99709	.	2.258910	0.01529	N	0.018700	T	0.79540	0.4463	N	0.08118	0	0.44762	D	0.997761	B;B	0.23249	0.082;0.006	B;B	0.21708	0.036;0.014	T	0.44574	-0.9319	10	0.59425	D	0.04	.	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	114;114	P78424-2;P78424	.;PO6F2_HUMAN	L	114;114;115	ENSP00000384004:P114L;ENSP00000430514:P114L	ENSP00000384004:P114L	P	+	2	0	POU6F2	39213574	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.696000	0.68287	2.941000	0.99782	0.655000	0.94253	CCC		0.582	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		41	175	0	0	0	1	0	41	175				
PABPC5	140886	broad.mit.edu	37	X	90691385	90691385	+	Missense_Mutation	SNP	A	A	G	rs367670485		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:90691385A>G	ENST00000312600.3	+	2	1023	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	PABPC5_ENST00000373105.1_Missense_Mutation_p.Y106C|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	270	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCCTCTATGTAGGGCGA	0.488																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(808-810)tAt>tGt		poly(A) binding protein, cytoplasmic 5		A	CYS/TYR	1,3834		0,1,1631,571	55.0	55.0	55.0		809	1.9	0.5	X		55	1,6727		0,1,2427,1872	no	missense	PABPC5	NM_080832.2	194	0,2,4058,2443	GG,GA,AA,A		0.0149,0.0261,0.0189	probably-damaging	270/383	90691385	2,10561	2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691385A>G	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.809A>G	X.37:g.90691385A>G	ENSP00000308012:p.Tyr270Cys					PABPC5_ENST00000373105.1_Missense_Mutation_p.Y106C	p.Y270C	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1023	+			270			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.809A>G	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	4.690	0.128239	0.08981	2.61E-4	1.49E-4	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.06142	3.34;3.34	4.29	1.85	0.25348	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.115246	0.64402	N	0.000011	T	0.18841	0.0452	M	0.80847	2.515	0.33307	D	0.565559	D	0.76494	0.999	D	0.71870	0.975	T	0.13818	-1.0495	10	0.66056	D	0.02	.	3.9192	0.09236	0.7006:0.0:0.111:0.1884	.	270	Q96DU9	PABP5_HUMAN	C	106;270;238	ENSP00000362197:Y106C;ENSP00000308012:Y270C	ENSP00000308012:Y270C	Y	+	2	0	PABPC5	90578041	0.599000	0.26891	0.546000	0.28166	0.397000	0.30659	0.097000	0.15168	0.262000	0.21774	0.430000	0.28490	TAT		0.488	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		14	40	0	0	0	1	0	14	40				
DDX5	1655	broad.mit.edu	37	17	62499311	62499311	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:62499311T>C	ENST00000225792.5	-	7	1206	c.805A>G	c.(805-807)Ata>Gta	p.I269V	DDX5_ENST00000578804.1_Missense_Mutation_p.I269V|DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.I190V|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTACTCTTATTTGATCCACA	0.363			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(805-807)Ata>Gta		DEAD (Asp-Glu-Ala-Asp) box helicase 5							145.0	149.0	148.0					17																	62499311		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499311T>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.805A>G	17.37:g.62499311T>C	ENSP00000225792:p.Ile269Val					DDX5_ENST00000450599.2_Missense_Mutation_p.I190V|DDX5_ENST00000578804.1_Missense_Mutation_p.I269V	p.I269V	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		7	1206	-	Breast(5;2.15e-14)		269			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.805A>G	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380285	0.42207	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.63	5.63	0.86233	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	N	0.20574	0.59	0.80722	D	1	B;P;P;P	0.38195	0.047;0.622;0.48;0.622	B;P;B;P	0.45276	0.312;0.475;0.376;0.475	T	0.58978	-0.7540	9	0.72032	D	0.01	-12.3387	15.87	0.79108	0.0:0.0:0.0:1.0	.	190;269;258;269	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	V	269;199;258	.	ENSP00000225792:I258V	I	-	1	0	DDX5	59929773	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.505000	0.81655	2.145000	0.66743	0.533000	0.62120	ATA		0.363	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		53	163	0	0	0	1	0	53	163				
HIRA	7290	broad.mit.edu	37	22	19384466	19384466	+	Silent	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:19384466A>T	ENST00000263208.5	-	7	754	c.498T>A	c.(496-498)atT>atA	p.I166I	HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000546308.1_Silent_p.I122I|HIRA_ENST00000340170.4_Silent_p.I166I|HIRA_ENST00000541063.1_Silent_p.I122I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	166					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GAGTAGCTAGAATTTCTGTGA	0.478																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(496-498)atT>atA		histone cell cycle regulator							58.0	58.0	58.0					22																	19384466		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19384466A>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.498T>A	22.37:g.19384466A>T						HIRA_ENST00000340170.4_Silent_p.I166I|HIRA_ENST00000541063.1_Silent_p.I122I|HIRA_ENST00000546308.1_Silent_p.I122I	p.I166I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			7	754	-	Colorectal(54;0.0993)		166					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.498T>A	CCDS13759.1																																																																																				0.478	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		18	76	0	0	0	1	0	18	76				
PKN1	5585	broad.mit.edu	37	19	14581479	14581479	+	Silent	SNP	C	C	T	rs374274029	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:14581479C>T	ENST00000242783.6	+	20	2694	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	PKN1_ENST00000342216.4_Silent_p.I849I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCGAAGCCATCGGCATCATGA	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		15777	0.002		0.0	False		,,,				2504	0.0				NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2527-2529)atC>atT		protein kinase N1							27.0	31.0	30.0					19																	14581479		1944	4133	6077	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581479C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2529C>T	19.37:g.14581479C>T						PKN1_ENST00000342216.4_Silent_p.I849I	p.I843I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			20	2694	+			843			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.2529C>T	CCDS42513.1																																																																																				0.657	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		10	41	0	0	0	1	0	10	41				
BORA	79866	broad.mit.edu	37	13	73320113	73320113	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:73320113G>C	ENST00000390667.5	+	9	867	c.770G>C	c.(769-771)aGt>aCt	p.S257T	BORA_ENST00000377815.3_Missense_Mutation_p.S187T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	257	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATTCAGGCTAGTGCAAAAAAA	0.373																																						ENST00000390667.5																			0											c.(769-771)aGt>aCt		bora, aurora kinase A activator							100.0	96.0	97.0					13																	73320113		1805	4062	5867	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320113G>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.770G>C	13.37:g.73320113G>C	ENSP00000375082:p.Ser257Thr					BORA_ENST00000377815.3_Missense_Mutation_p.S187T	p.S257T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			9	867	+			257			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.770G>C	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041699	0.19748	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.47177	0.85;0.85	5.69	1.29	0.21616	.	0.339504	0.38605	N	0.001630	T	0.33469	0.0864	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.38504	0.634;0.493;0.634;0.493	B;B;B;B	0.31101	0.124;0.085;0.085;0.085	T	0.11717	-1.0576	10	0.33141	T	0.24	-6.4756	10.3672	0.44030	0.3032:0.0:0.6968:0.0	.	187;257;317;257	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	T	187;257	ENSP00000367046:S187T;ENSP00000375082:S257T	ENSP00000367046:S187T	S	+	2	0	BORA	72218114	0.968000	0.33430	0.041000	0.18516	0.980000	0.70556	1.705000	0.37867	0.006000	0.14734	-0.768000	0.03414	AGT		0.373	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		38	130	0	0	0	1	0	38	130				
CACNG7	59284	broad.mit.edu	37	19	54416163	54416163	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:54416163C>T	ENST00000391767.1	+	2	290	c.78C>T	c.(76-78)atC>atT	p.I26I	CACNG7_ENST00000391766.1_Silent_p.I26I|CACNG7_ENST00000222212.2_Silent_p.I26I|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	26					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTAGGCATCGCGGTCAGCA	0.647																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(76-78)atC>atT		calcium channel, voltage-dependent, gamma subunit 7							71.0	55.0	60.0					19																	54416163		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416163C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.78C>T	19.37:g.54416163C>T						CACNG7_ENST00000222212.2_Silent_p.I26I|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Silent_p.I26I	p.I26I			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	290	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		26					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.78C>T	CCDS12868.1																																																																																				0.647	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			18	53	0	0	0	1	0	18	53				
PURG	29942	broad.mit.edu	37	8	30889481	30889481	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:30889481C>T	ENST00000475541.1	-	1	1750	c.818G>A	c.(817-819)aGg>aAg	p.R273K	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R273K	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	273						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAAGTAGAACCTTTTATTGTC	0.428																																						ENST00000475541.1																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12						c.(817-819)aGg>aAg		purine-rich element binding protein G							67.0	65.0	66.0					8																	30889481		2203	4300	6503	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889481C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.818G>A	8.37:g.30889481C>T	ENSP00000418721:p.Arg273Lys					PURG_ENST00000339382.2_Missense_Mutation_p.R273K	p.R273K	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	1750	-			273					Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.818G>A	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317782	0.81469	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.30714	1.52;1.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.979;0.996	D;D	0.75484	0.982;0.986	T	0.50684	-0.8799	10	0.46703	T	0.11	-8.5143	18.4618	0.90741	0.0:1.0:0.0:0.0	.	273;273	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	K	273	ENSP00000345168:R273K;ENSP00000418721:R273K	ENSP00000345168:R273K	R	-	2	0	PURG	31009023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.438000	0.82558	0.655000	0.94253	AGG		0.428	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		20	76	0	0	0	1	0	20	76				
FYCO1	79443	broad.mit.edu	37	3	46000054	46000054	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:46000054G>A	ENST00000296137.2	-	13	3850	c.3645C>T	c.(3643-3645)caC>caT	p.H1215H	FYCO1_ENST00000535325.1_Silent_p.H1215H|FYCO1_ENST00000438446.1_De_novo_Start_OutOfFrame	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1215					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTGCCACCGTGCTTGCTCA	0.562																																						ENST00000438446.1																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54								FYVE and coiled-coil domain containing 1							73.0	71.0	72.0					3																	46000054		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46000054G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3645C>T	3.37:g.46000054G>A						FYCO1_ENST00000296137.2_Silent_p.H1215H|FYCO1_ENST00000535325.1_Silent_p.H1215H				Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	0	99	-								B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Translation_Start_Site	SNP	ENST00000296137.2	37		CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	7.844	0.722454	0.15439	.	.	ENSG00000163820	ENST00000433878	.	.	.	5.74	3.9	0.45041	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	T	0.20505	-1.0273	4	.	.	.	-7.374	7.7228	0.28742	0.0865:0.3179:0.5957:0.0	.	.	.	.	M	4	.	.	T	-	2	0	FYCO1	45975058	0.130000	0.22417	0.031000	0.17742	0.972000	0.66771	1.040000	0.30278	0.727000	0.32360	0.655000	0.94253	ACG		0.562	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		29	52	0	0	0	1	0	29	52				
TSC2	7249	broad.mit.edu	37	16	2120559	2120559	+	Missense_Mutation	SNP	G	G	A	rs45517203|rs137854119		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:2120559G>A	ENST00000219476.3	+	17	2449	c.1819G>A	c.(1819-1821)Gcg>Acg	p.A607T	TSC2_ENST00000382538.6_Missense_Mutation_p.A558T|TSC2_ENST00000353929.4_Missense_Mutation_p.A607T|TSC2_ENST00000568454.1_Missense_Mutation_p.A618T|TSC2_ENST00000350773.4_Missense_Mutation_p.A607T|TSC2_ENST00000439673.2_Missense_Mutation_p.A570T|TSC2_ENST00000401874.2_Missense_Mutation_p.A607T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T. {ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A607T(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCCAATCGCGAGCAGCAT	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				G|||	1	0.000199681	0.0008	0.0	5008	,	,		19378	0.0		0.0	False		,,,				2504	0.0					ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			2	Substitution - Missense(2)	p.A607T(2)	endometrium(2)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1819-1821)Gcg>Acg		tuberous sclerosis 2		G	THR/ALA,THR/ALA,THR/ALA	1,4395	2.1+/-5.4	0,1,2197	69.0	52.0	58.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1819,1819,1819	5.5	1.0	16	dbSNP_127	58	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	58,58,58	0,8,6490	AA,AG,GG		0.0814,0.0227,0.0616	possibly-damaging,possibly-damaging,possibly-damaging	607/1808,607/1741,607/1785	2120559	8,12988	2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2120559G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1819G>A	16.37:g.2120559G>A	ENSP00000219476:p.Ala607Thr					TSC2_ENST00000568454.1_Missense_Mutation_p.A618T|TSC2_ENST00000439673.2_Missense_Mutation_p.A570T|TSC2_ENST00000350773.4_Missense_Mutation_p.A607T|TSC2_ENST00000353929.4_Missense_Mutation_p.A607T|TSC2_ENST00000382538.6_Missense_Mutation_p.A558T|TSC2_ENST00000401874.2_Missense_Mutation_p.A607T	p.A607T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			17	2449	+		Hepatocellular(780;0.0202)	607		A -> T.			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1819G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214628	0.79352	2.27E-4	8.14E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.052861	0.85682	D	0.000000	D	0.91432	0.7296	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;0.995;1.0;0.999;1.0;1.0	D;P;D;D;D;D	0.91635	0.978;0.886;0.964;0.949;0.999;0.997	D	0.87571	0.2478	10	0.13853	T	0.58	-33.4261	19.4153	0.94694	0.0:0.0:1.0:0.0	rs45517203	558;570;607;607;607;607	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	T	607;607;607;570;558;607	ENSP00000219476:A607T;ENSP00000384468:A607T;ENSP00000248099:A607T;ENSP00000399232:A570T;ENSP00000371978:A558T;ENSP00000344383:A607T	ENSP00000219476:A607T	A	+	1	0	TSC2	2060560	1.000000	0.71417	0.974000	0.42286	0.574000	0.36063	6.590000	0.74085	2.595000	0.87683	0.561000	0.74099	GCG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		29	62	0	0	0	1	0	29	62				
OR5T1	390155	broad.mit.edu	37	11	56044041	56044041	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:56044041A>G	ENST00000313033.2	+	1	1013	c.927A>G	c.(925-927)gtA>gtG	p.V309V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACAAAGATGTAAAGGAGGCAA	0.353																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(925-927)gtA>gtG		olfactory receptor, family 5, subfamily T, member 1							83.0	80.0	81.0					11																	56044041		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56044041A>G	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.927A>G	11.37:g.56044041A>G							p.V309V	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	1013	+	Esophageal squamous(21;0.00448)		309					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.927A>G	CCDS31525.1																																																																																				0.353	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		25	100	0	0	0	1	0	25	100				
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725847	130725847	+	RNA	SNP	C	C	T	rs151288976	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:130725847C>T	ENST00000412425.1	-	0	771					NR_036537.1																						TTGGTTTTGGCGCTTCTGTTG	0.478													.|||	9	0.00179712	0.0	0.0	5008	,	,		16963	0.0089		0.0	False		,,,				2504	0.0					ENST00000412425.1																			0																																																			100131320							g.chr2:130725847C>T																													2.37:g.130725847C>T								NR_036537.1						0	771	-									RNA	SNP	ENST00000412425.1	37																																																																																						0.478	AC079776.7-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331383.1			19	57	0	0	0	1	0	19	57				
ZCCHC11	23318	broad.mit.edu	37	1	52901042	52901042	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:52901042C>T	ENST00000371544.3	-	27	4517	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1420K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1419	Gln-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTACACATTCTGATGACTGT	0.453																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4255-4257)Gaa>Aaa		zinc finger, CCHC domain containing 11							123.0	104.0	111.0					1																	52901042		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52901042C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4255G>A	1.37:g.52901042C>T	ENSP00000360599:p.Glu1419Lys					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1420K	p.E1419K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			27	4517	-			1419			Gln-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.4255G>A	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.786662|4.786662	0.90367|0.90367	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722|ENST00000474453	T;T|.	0.54279|.	0.58;0.59|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.312106|.	0.30365|.	N|.	0.009788|.	T|T	0.53578|0.53578	0.1805|0.1805	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.77004|.	0.989|.	T|T	0.50474|0.50474	-0.8824|-0.8824	10|5	0.34782|.	T|.	0.22|.	.|.	15.4911|15.4911	0.75605|0.75605	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1419|.	Q5TAX3|.	TUT4_HUMAN|.	K|K	1420;1419;257|264	ENSP00000257177:E1420K;ENSP00000360599:E1419K|.	ENSP00000257177:E1420K|.	E|R	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52673630|52673630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.208000|6.208000	0.72165|0.72165	2.189000|2.189000	0.69895|0.69895	0.467000|0.467000	0.42956|0.42956	GAA|AGA		0.453	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		5	80	0	0	0	1	0	5	80				
TP53	7157	broad.mit.edu	37	17	7577157	7577157	+	Splice_Site	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:7577157T>G	ENST00000269305.4	-	8	972		c.e8-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(11)|p.0?(8)|p.E258fs*71(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)	AGATTACCACTACTCAGGATA	0.512		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		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"""		20	Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.E258fs*71(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|urinary_tract(1)|oesophagus(1)|ovary(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						c.e8-2	Other conserved DNA damage response genes	tumor protein p53							38.0	35.0	36.0					17																	7577157		2203	4299	6502	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577157T>G	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.783-2A>C	17.37:g.7577157T>G		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_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948067	0.34377	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4575	0.50191	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517882	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.431000	0.66507	2.029000	0.59856	0.379000	0.24179	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	4	18	0	0	0	1	0	4	18				
PSCA	8000	broad.mit.edu	37	8	143763539	143763539	+	Missense_Mutation	SNP	G	G	A	rs369384796		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:143763539G>A	ENST00000301258.4	+	3	417	c.334G>A	c.(334-336)Ggc>Agc	p.G112S		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	121						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGGACCCGGCCAGCTCTA	0.711																																						ENST00000301258.4																			0				endometrium(1)|large_intestine(1)	2						c.(334-336)Ggc>Agc		prostate stem cell antigen		G	SER/GLY	1,4049		0,1,2024	16.0	18.0	17.0		334	-6.4	0.0	8		17	1,8383		0,1,4191	no	missense	PSCA	NM_005672.4	56	0,2,6215	AA,AG,GG		0.0119,0.0247,0.0161	benign	112/115	143763539	2,12432	2025	4192	6217	SO:0001583	missense	8000							g.chr8:143763539G>A	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.334G>A	8.37:g.143763539G>A	ENSP00000301258:p.Gly112Ser						p.G112S	NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN			3	417	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		112					Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	c.334G>A	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	G	4.292	0.053452	0.08291	2.47E-4	1.19E-4	ENSG00000167653	ENST00000301258	.	.	.	3.21	-6.43	0.01926	.	1.441580	0.04412	N	0.366224	T	0.17152	0.0412	N	0.02539	-0.55	0.09310	N	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.48747	-0.9008	9	0.02654	T	1	.	16.4342	0.83869	0.1807:0.0:0.8193:0.0	.	121	O43653	PSCA_HUMAN	S	121	.	ENSP00000301258:G121S	G	+	1	0	PSCA	143760541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.940000	0.01543	-2.068000	0.00884	-0.339000	0.08088	GGC		0.711	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		4	57	0	0	0	1	0	4	57				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	65	0	0	0	1	0	4	65				
MYO19	80179	broad.mit.edu	37	17	34871782	34871782	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34871782G>A	ENST00000431794.3	-	7	988	c.466C>T	c.(466-468)Cct>Tct	p.P156S	MYO19_ENST00000268852.9_Missense_Mutation_p.P156S|MYO19_ENST00000544606.1_Missense_Mutation_p.P22S|MYO19_ENST00000586007.1_Missense_Mutation_p.P156S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	156	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAAGATGCAGGTGAGGTGGCC	0.537																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(466-468)Cct>Tct		myosin XIX							72.0	74.0	74.0					17																	34871782		2028	4170	6198	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34871782G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.466C>T	17.37:g.34871782G>A	ENSP00000409936:p.Pro156Ser					MYO19_ENST00000586007.1_Missense_Mutation_p.P156S|MYO19_ENST00000544606.1_Missense_Mutation_p.P22S|MYO19_ENST00000268852.9_Missense_Mutation_p.P156S	p.P156S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	7	988	-		Breast(25;0.00957)|Ovarian(249;0.17)	156			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.466C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	7.277	0.608351	0.14002	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.86297	-2.1;-2.1;-2.1	5.72	2.41	0.29592	Myosin head, motor domain (2);	0.171581	0.28114	N	0.016547	T	0.58538	0.2129	N	0.01009	-1.055	0.27830	N	0.941477	B;B;B;B	0.10296	0.002;0.002;0.0;0.003	B;B;B;B	0.10450	0.005;0.005;0.0;0.005	T	0.52902	-0.8513	10	0.09590	T	0.72	.	4.1477	0.10224	0.2792:0.1743:0.5465:0.0	.	22;156;156;156	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	S	156;156;22	ENSP00000409936:P156S;ENSP00000268852:P156S;ENSP00000438365:P22S	ENSP00000268852:P156S	P	-	1	0	MYO19	31945895	0.677000	0.27577	0.940000	0.37924	0.816000	0.46133	1.622000	0.36997	0.773000	0.33404	0.467000	0.42956	CCT		0.537	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		10	31	0	0	0	1	0	10	31				
ISM2	145501	broad.mit.edu	37	14	77948888	77948888	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:77948888C>A	ENST00000342219.4	-	4	806	c.750G>T	c.(748-750)tgG>tgT	p.W250C	ISM2_ENST00000412904.1_Missense_Mutation_p.W169C|ISM2_ENST00000393684.3_Missense_Mutation_p.W162C|ISM2_ENST00000429906.1_Missense_Mutation_p.W169C|ISM2_ENST00000493585.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	250						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TGTAGTCTCCCCAGAGGAAGG	0.607																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(484-486)tgG>tgT		isthmin 2							90.0	91.0	90.0					14																	77948888		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77948888C>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.750G>T	14.37:g.77948888C>A	ENSP00000341490:p.Trp250Cys					ISM2_ENST00000412904.1_Missense_Mutation_p.W169C|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.W169C|ISM2_ENST00000342219.4_Missense_Mutation_p.W250C	p.W162C			Q6H9L7	ISM2_HUMAN			5	877	-			250					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.486G>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608818	0.46527	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684;ENST00000554801	T;T;T;T	0.26518	1.73;1.78;1.77;2.08	4.98	4.98	0.66077	.	0.204155	0.45867	D	0.000331	T	0.49167	0.1541	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.48906	-0.8993	10	0.56958	D	0.05	-19.768	16.4341	0.83869	0.0:1.0:0.0:0.0	.	169;250	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	C	250;169;169;162;169	ENSP00000341490:W250C;ENSP00000416773:W169C;ENSP00000395387:W169C;ENSP00000377289:W162C	ENSP00000341490:W250C	W	-	3	0	ISM2	77018641	1.000000	0.71417	0.987000	0.45799	0.025000	0.11179	5.074000	0.64401	2.308000	0.77769	0.462000	0.41574	TGG		0.607	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		16	119	1	0	3.99206e-14	1	4.43328e-14	16	119				
GPC3	2719	broad.mit.edu	37	X	133087078	133087078	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:133087078T>C	ENST00000370818.3	-	2	781	c.336A>G	c.(334-336)caA>caG	p.Q112Q	GPC3_ENST00000394299.2_Splice_Site_p.Q112Q|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	112					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAACTCACCTTGGAAAACCG	0.378			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.e2+1		glypican 3							163.0	152.0	156.0					X																	133087078		2203	4300	6503	SO:0001630	splice_region_variant	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087078T>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.337+1A>G	X.37:g.133087078T>C						GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Splice_Site_p.Q112_splice	p.Q112_splice	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			2	781	-	Acute lymphoblastic leukemia(192;0.000127)		112					C9JLE3|G3V1R0|Q2L880|Q2L882	Splice_Site	SNP	ENST00000370818.3	37	c.337_splice	CCDS14638.1																																																																																				0.378	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	Silent	84	148	0	0	0	1	0	84	148				
CSTF1	1477	broad.mit.edu	37	20	54972508	54972508	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:54972508A>T	ENST00000217109.4	+	3	767	c.415A>T	c.(415-417)Agg>Tgg	p.R139W	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	139					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TGACACAGAGAGGATGTTGGC	0.398																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(415-417)Agg>Tgg		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							166.0	153.0	157.0					20																	54972508		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54972508A>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.415A>T	20.37:g.54972508A>T	ENSP00000217109:p.Arg139Trp					CSTF1_ENST00000493039.1_3'UTR	p.R139W	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		3	767	+			139					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.415A>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491824	0.84962	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	D;D;D	0.81499	-1.5;-1.5;-1.5	6.17	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88046	0.2784	10	0.72032	D	0.01	-9.2273	13.2148	0.59854	0.7505:0.2495:0.0:0.0	.	139	Q05048	CSTF1_HUMAN	W	139;139;139;126;139	ENSP00000387968:R139W;ENSP00000217109:R139W;ENSP00000409035:R139W	ENSP00000217109:R139W	R	+	1	2	CSTF1	54405915	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	3.600000	0.54052	1.119000	0.41883	0.533000	0.62120	AGG		0.398	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		44	129	0	0	0	1	0	44	129				
HES7	84667	broad.mit.edu	37	17	8025100	8025100	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:8025100G>A	ENST00000317814.4	-	4	466	c.467C>T	c.(466-468)cCt>cTt	p.P156L	ALOXE3_ENST00000318227.3_5'Flank|HES7_ENST00000541682.2_Missense_Mutation_p.P161L			Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	156	Pro-rich.				mesoderm development (GO:0007498)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|post-anal tail morphogenesis (GO:0036342)|regulation of somitogenesis (GO:0014807)|rhythmic process (GO:0048511)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)										GTGCAGCGCAGGGCCAAGGGC	0.761																																						ENST00000541682.2																			0											c.(481-483)cCt>cTt		hes family bHLH transcription factor 7							5.0	7.0	6.0					17																	8025100		1475	3408	4883	SO:0001583	missense	84667				mesoderm development|transcription, DNA-dependent	nucleus	DNA binding	g.chr17:8025100G>A	AB049064	CCDS42258.1, CCDS54085.1	17p13.1	2013-10-17	2013-10-17			ENSG00000179111		"""Basic helix-loop-helix proteins"""	15977	protein-coding gene	gene with protein product	"""bHLH factor Hes7"""	608059	"""hairy and enhancer of split 7 (Drosophila)"""			11260262	Standard	NM_032580		Approved	bHLHb37	uc002gkb.2	Q9BYE0		ENST00000317814.4:c.467C>T	17.37:g.8025100G>A	ENSP00000314774:p.Pro156Leu					HES7_ENST00000317814.4_Missense_Mutation_p.P156L	p.P161L	NM_001165967.1|NM_032580.3	NP_001159439.1|NP_115969.2	Q9BYE0	HES7_HUMAN			4	481	-			156			Pro-rich.		F8VPC9	Missense_Mutation	SNP	ENST00000317814.4	37	c.482C>T	CCDS42258.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311662	0.40895	.	.	ENSG00000179111	ENST00000541682;ENST00000317814	T;T	0.78707	-1.2;-1.2	4.5	2.4	0.29515	.	0.644966	0.14178	N	0.336217	T	0.61739	0.2371	L	0.27053	0.805	0.52501	D	0.999955	B;B	0.21905	0.037;0.062	B;B	0.19391	0.011;0.025	T	0.45527	-0.9255	10	0.20519	T	0.43	-14.1854	7.3409	0.26635	0.0:0.1866:0.6203:0.1931	.	156;161	Q9BYE0;F8VPC9	HES7_HUMAN;.	L	161;156	ENSP00000446205:P161L;ENSP00000314774:P156L	ENSP00000314774:P156L	P	-	2	0	HES7	7965825	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	1.761000	0.38440	0.292000	0.22492	-0.499000	0.04595	CCT		0.761	HES7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441479.1	NM_032580		8	11	0	0	0	1	0	8	11				
HSPG2	3339	broad.mit.edu	37	1	22170647	22170647	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:22170647C>T	ENST00000374695.3	-	65	8689	c.8610G>A	c.(8608-8610)cgG>cgA	p.R2870R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2870	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTACCTGGTGCCGGGCAGGGA	0.627																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8608-8610)cgG>cgA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						63.0	57.0	59.0					1																	22170647		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22170647C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8610G>A	1.37:g.22170647C>T							p.R2870R	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	65	8689	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2870			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.8610G>A	CCDS30625.1																																																																																				0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	103	0	0	0	1	0	4	103				
EIF4ENIF1	56478	broad.mit.edu	37	22	31867888	31867888	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:31867888T>C	ENST00000397525.1	-	3	335	c.112A>G	c.(112-114)Ata>Gta	p.I38V	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.I38V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	38						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTCTTTTATATCCAAGAGT	0.343																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(112-114)Ata>Gta		eukaryotic translation initiation factor 4E nuclear import factor 1							110.0	114.0	113.0					22																	31867888		2203	4298	6501	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31867888T>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.112A>G	22.37:g.31867888T>C	ENSP00000380659:p.Ile38Val					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.I38V	p.I38V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			3	335	-			38					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.112A>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273586	0.80580	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097;ENST00000397518;ENST00000397520	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	M	0.73217	2.22	0.80722	D	1	D;P	0.58620	0.983;0.884	D;D	0.73708	0.981;0.911	T	0.79019	-0.1974	9	0.54805	T	0.06	-14.5497	14.3291	0.66541	0.0:0.0:0.0:1.0	.	38;38	B1AKL3;Q9NRA8	.;4ET_HUMAN	V	38	.	ENSP00000328103:I38V	I	-	1	0	EIF4ENIF1	30197888	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.304000	0.78882	2.064000	0.61679	0.460000	0.39030	ATA		0.343	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		33	130	0	0	0	1	0	33	130				
QSOX2	169714	broad.mit.edu	37	9	139113676	139113676	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:139113676T>A	ENST00000358701.5	-	6	824	c.787A>T	c.(787-789)Atc>Ttc	p.I263F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	263					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TTTGGGTAGATCAGGTAACAC	0.552																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(787-789)Atc>Ttc		quiescin Q6 sulfhydryl oxidase 2							144.0	129.0	134.0					9																	139113676		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139113676T>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.787A>T	9.37:g.139113676T>A	ENSP00000351536:p.Ile263Phe						p.I263F	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	6	824	-		Myeloproliferative disorder(178;0.0511)	263					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.787A>T	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	T	9.633	1.136934	0.21123	.	.	ENSG00000165661	ENST00000358701	T	0.19394	2.15	4.65	2.27	0.28462	.	0.207206	0.43747	D	0.000522	T	0.19366	0.0465	M	0.68593	2.085	0.48395	D	0.999647	B	0.20671	0.047	B	0.22880	0.042	T	0.06752	-1.0809	10	0.13108	T	0.6	-11.3215	8.3488	0.32290	0.0:0.164:0.0:0.836	.	263	Q6ZRP7	QSOX2_HUMAN	F	263	ENSP00000351536:I263F	ENSP00000351536:I263F	I	-	1	0	QSOX2	138253497	0.589000	0.26807	0.668000	0.29813	0.159000	0.22180	0.350000	0.20079	0.253000	0.21552	0.533000	0.62120	ATC		0.552	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		25	70	0	0	0	1	0	25	70				
KRTAP5-3	387266	broad.mit.edu	37	11	1628933	1628933	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:1628933C>G	ENST00000399685.1	-	1	760	c.683G>C	c.(682-684)tGc>tCc	p.C228S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	228	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGACACAGCAGCTGGACTG	0.597																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(682-684)tGc>tCc		keratin associated protein 5-3							150.0	158.0	155.0					11																	1628933		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1628933C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.683G>C	11.37:g.1628933C>G	ENSP00000382592:p.Cys228Ser						p.C228S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	760	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	228			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.683G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	4.343	0.063093	0.08388	.	.	ENSG00000196224	ENST00000399685	T	0.00995	5.46	3.46	3.46	0.39613	.	.	.	.	.	T	0.02418	0.0074	M	0.86420	2.815	0.27606	N	0.948822	B	0.23990	0.095	B	0.23419	0.046	T	0.08659	-1.0711	9	0.36615	T	0.2	.	12.7958	0.57558	0.0:1.0:0.0:0.0	.	228	Q6L8H2	KRA53_HUMAN	S	228	ENSP00000382592:C228S	ENSP00000382592:C228S	C	-	2	0	KRTAP5-3	1585509	1.000000	0.71417	0.997000	0.53966	0.217000	0.24651	1.544000	0.36158	1.641000	0.50575	0.298000	0.19748	TGC		0.597	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			42	258	0	0	0	1	0	42	258				
B4GALNT2	124872	broad.mit.edu	37	17	47219490	47219490	+	Silent	SNP	G	G	A	rs552933724	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:47219490G>A	ENST00000300404.2	+	3	548	c.489G>A	c.(487-489)gcG>gcA	p.A163A	B4GALNT2_ENST00000504681.1_Silent_p.A77A|B4GALNT2_ENST00000393354.2_Silent_p.A103A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	163					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACCTCCCAGCGGTGAAAGCGA	0.507													G|||	5	0.000998403	0.0	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.0051				GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(487-489)gcG>gcA		beta-1,4-N-acetyl-galactosaminyl transferase 2							114.0	107.0	109.0					17																	47219490		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47219490G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.489G>A	17.37:g.47219490G>A						B4GALNT2_ENST00000393354.2_Silent_p.A103A|B4GALNT2_ENST00000504681.1_Silent_p.A77A	p.A163A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		3	548	+			163					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.489G>A	CCDS11544.1																																																																																				0.507	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		28	81	0	0	0	1	0	28	81				
CTPS2	56474	broad.mit.edu	37	X	16717105	16717105	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:16717105A>G	ENST00000443824.1	-	3	1021	c.278T>C	c.(277-279)aTa>aCa	p.I93T	CTPS2_ENST00000380241.3_Missense_Mutation_p.I93T|CTPS2_ENST00000359276.4_Missense_Mutation_p.I93T	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	93					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATGCTGATATATCTTCCCCGT	0.373																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(277-279)aTa>aCa		CTP synthase 2							151.0	140.0	144.0					X																	16717105		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16717105A>G	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.278T>C	X.37:g.16717105A>G	ENSP00000401264:p.Ile93Thr					CTPS2_ENST00000380241.3_Missense_Mutation_p.I93T|CTPS2_ENST00000359276.4_Missense_Mutation_p.I93T	p.I93T	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			3	1021	-	Hepatocellular(33;0.0997)		93					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.278T>C	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068558	0.76301	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.58358	0.34;0.34;0.34	5.63	5.63	0.86233	CTP synthase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.79787	0.4506	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.85786	0.1364	10	0.87932	D	0	-16.9608	14.8297	0.70139	1.0:0.0:0.0:0.0	.	93	Q9NRF8	PYRG2_HUMAN	T	93	ENSP00000401264:I93T;ENSP00000369590:I93T;ENSP00000352222:I93T	ENSP00000352222:I93T	I	-	2	0	CTPS2	16627026	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	8.932000	0.92897	1.883000	0.54544	0.486000	0.48141	ATA		0.373	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		33	115	0	0	0	1	0	33	115				
PTPRB	5787	broad.mit.edu	37	12	70948979	70948979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:70948979C>T	ENST00000261266.5	-	18	4479	c.4450G>A	c.(4450-4452)Gct>Act	p.A1484T	PTPRB_ENST00000538708.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000334414.6_Missense_Mutation_p.A1702T|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1614T|PTPRB_ENST00000550857.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000451516.2_Missense_Mutation_p.A1394T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1484	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TATTTCACAGCTCCATTGGTG	0.458																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5104-5106)Gct>Act		protein tyrosine phosphatase, receptor type, B							95.0	91.0	93.0					12																	70948979		1953	4170	6123	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70948979C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4450G>A	12.37:g.70948979C>T	ENSP00000261266:p.Ala1484Thr					PTPRB_ENST00000261266.5_Missense_Mutation_p.A1484T|PTPRB_ENST00000538708.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000451516.2_Missense_Mutation_p.A1394T|PTPRB_ENST00000550857.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1614T	p.A1702T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		20	5148	-	Renal(347;0.236)		1484					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5104G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315628	0.95655	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.76060	0.61;0.61;0.61;-0.99;0.61;0.61	5.8	5.8	0.92144	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	T	0.76160	-0.3061	10	0.25106	T	0.35	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	1394;1394;1702;1484;1614	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	T	1702;1394;1614;1394;1394;1484	ENSP00000334928:A1702T;ENSP00000393028:A1394T;ENSP00000448058:A1614T;ENSP00000438927:A1394T;ENSP00000447302:A1394T;ENSP00000261266:A1484T	ENSP00000261266:A1484T	A	-	1	0	PTPRB	69235246	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.394000	0.79862	2.739000	0.93911	0.467000	0.42956	GCT		0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			14	56	0	0	0	1	0	14	56				
CUL3	8452	broad.mit.edu	37	2	225379381	225379381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:225379381G>A	ENST00000264414.4	-	4	825	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q97*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	163					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AATAGAGTTTGCCGTAGATGA	0.353																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(487-489)Caa>Taa		cullin 3							156.0	140.0	146.0					2																	225379381		2203	4300	6503	SO:0001587	stop_gained	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225379381G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.487C>T	2.37:g.225379381G>A	ENSP00000264414:p.Gln163*					CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q97*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000432260.2_5'UTR	p.Q163*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	4	825	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	163					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	37	c.487C>T	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.247378|7.247378	0.98161|0.98161	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.73148|.	0.3550|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64914|.	-0.6295|.	3|.	.|0.25751	.|T	.|0.34	.|.	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	183|163;97;139;139	.|.	.|ENSP00000264414:Q163X	A|Q	-|-	2|1	0|0	CUL3|CUL3	225087625|225087625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.007000|8.007000	0.88571|0.88571	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCA|CAA		0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			26	96	0	0	0	1	0	26	96				
GATA3-AS1	399717	broad.mit.edu	37	10	8092994	8092994	+	lincRNA	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:8092994T>C	ENST00000418270.1	+	0	0				GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.3_ENST00000458727.1_lincRNA																							GCGCCCTGGGTCTGTAGCCCT	0.706																																						ENST00000355358.1																			0																				12.0	13.0	12.0					10																	8092994		2191	4280	6471			399717							g.chr10:8092994T>C																													10.37:g.8092994T>C								NR_024256.1						0	1632	-									RNA	SNP	ENST00000418270.1	37																																																																																						0.706	RP11-379F12.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000046724.1			3	18	0	0	0	1	0	3	18				
MAPK8IP2	23542	broad.mit.edu	37	22	51044054	51044054	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:51044054G>A	ENST00000399908.2	+	5	1824	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E341K|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E256K|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E370K|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E358K|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E635K	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	636	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGAGGCCGAGGAGGACGA	0.662																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1108-1110)Gag>Aag		mitogen-activated protein kinase 8 interacting protein 2							35.0	45.0	41.0					22																	51044054		2140	4243	6383	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044054G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1108G>A	22.37:g.51044054G>A	ENSP00000382792:p.Glu370Lys					MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E256K|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E358K|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E341K|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E370K|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E635K	p.E370K	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1824	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	636					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1108G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769371	0.69992	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.16	5.16	0.70880	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.94	T	0.72187	-0.4366	9	0.66056	D	0.02	-18.9486	16.1776	0.81862	0.0:0.0:1.0:0.0	.	608;636	E7EQG6;Q13387	.;JIP2_HUMAN	K	370;635;358;256;370;341	ENSP00000382796:E370K;ENSP00000330572:E635K;ENSP00000404914:E358K;ENSP00000340015:E256K;ENSP00000382792:E370K;ENSP00000008876:E341K	ENSP00000008876:E341K	E	+	1	0	MAPK8IP2	49390920	1.000000	0.71417	0.943000	0.38184	0.035000	0.12851	4.246000	0.58740	2.690000	0.91761	0.655000	0.94253	GAG		0.662	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		9	31	0	0	0	1	0	9	31				
CNBD2	140894	broad.mit.edu	37	20	34611605	34611605	+	Missense_Mutation	SNP	C	C	T	rs151169935		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:34611605C>T	ENST00000373973.3	+	11	1524	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CNBD2_ENST00000349339.1_Missense_Mutation_p.R447W|CNBD2_ENST00000538900.1_Intron			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	451																	TGAGTTGATACGGATAAGGAA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		17793	0.0		0.001	False		,,,				2504	0.0					ENST00000373973.3																			0											c.(1351-1353)Cgg>Tgg		cyclic nucleotide binding domain containing 2		C	,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	114.0	115.0		,1339	2.8	0.3	20	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	yes	intron,missense	C20orf152	NM_001207076.1,NM_080834.2	,101	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,probably-damaging	,447/573	34611605	5,13001	2203	4300	6503	SO:0001583	missense	140894							g.chr20:34611605C>T	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1351C>T	20.37:g.34611605C>T	ENSP00000363084:p.Arg451Trp					CNBD2_ENST00000349339.1_Missense_Mutation_p.R447W|CNBD2_ENST00000538900.1_Intron	p.R451W							11	1524	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1351C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.49	3.139035	0.56936	2.27E-4	4.65E-4	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.46451	0.87;0.87	4.83	2.81	0.32909	.	0.523236	0.18317	N	0.144934	T	0.51466	0.1676	L	0.46157	1.445	0.21861	N	0.999508	D	0.89917	1.0	D	0.67231	0.95	T	0.34527	-0.9825	10	0.87932	D	0	-8.4542	8.0619	0.30638	0.1705:0.6351:0.1944:0.0	.	447	Q96M20-2	.	W	451;447	ENSP00000363084:R451W;ENSP00000340954:R447W	ENSP00000340954:R447W	R	+	1	2	C20orf152	34075019	0.002000	0.14202	0.330000	0.25442	0.167000	0.22549	0.347000	0.20014	0.657000	0.30906	0.655000	0.94253	CGG		0.443	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		12	100	0	0	0	1	0	12	100				
KRT34	3885	broad.mit.edu	37	17	39538023	39538023	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:39538023C>A	ENST00000394001.1	-	2	529	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	167	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACCAGCCTGGCATTCTCAGCC	0.458																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(499-501)Gcc>Tcc		keratin 34							83.0	80.0	81.0					17																	39538023		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538023C>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.499G>T	17.37:g.39538023C>A	ENSP00000377570:p.Ala167Ser						p.A167S	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			2	529	-		Breast(137;0.000496)	167			Coil 1B.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.499G>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	0.788	-0.760041	0.03019	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.55	-7.95	0.01148	Filament (1);	0.486755	0.19150	N	0.121475	T	0.19565	0.0470	N	0.17564	0.495	0.09310	N	1	B	0.19817	0.039	B	0.28139	0.086	T	0.09465	-1.0673	9	0.56958	D	0.05	.	5.7341	0.18057	0.2768:0.2625:0.0:0.4607	.	167	O76011	KRT34_HUMAN	S	125;167	.	ENSP00000251648:A167S	A	-	1	0	KRT34	36791549	0.000000	0.05858	0.007000	0.13788	0.070000	0.16714	-2.989000	0.00658	-1.500000	0.01819	-0.142000	0.14014	GCC		0.458	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		27	142	1	0	2.48779e-11	1	2.73398e-11	27	142				
USH2A	7399	broad.mit.edu	37	1	216251525	216251525	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:216251525G>A	ENST00000307340.3	-	27	5864	c.5478C>T	c.(5476-5478)tcC>tcT	p.S1826S	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Silent_p.S1826S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1826	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGTCTCCGGACTCCGATG	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5476-5478)tcC>tcT		Usher syndrome 2A (autosomal recessive, mild)							95.0	98.0	97.0					1																	216251525		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251525G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5478C>T	1.37:g.216251525G>A		HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.S1826S|RP11-22M7.2_ENST00000446411.1_RNA	p.S1826S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5864	-			1826			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.5478C>T	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		30	290	0	0	0	1	0	30	290				
ROS1	6098	broad.mit.edu	37	6	117710803	117710803	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:117710803A>G	ENST00000368508.3	-	12	1667	c.1469T>C	c.(1468-1470)aTc>aCc	p.I490T	ROS1_ENST00000368507.3_Missense_Mutation_p.I499T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	490					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCGAGGTAGGATGAGATGGGA	0.438			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1468-1470)aTc>aCc		c-ros oncogene 1 , receptor tyrosine kinase							99.0	81.0	87.0					6																	117710803		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710803A>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1469T>C	6.37:g.117710803A>G	ENSP00000357494:p.Ile490Thr					ROS1_ENST00000368507.3_Missense_Mutation_p.I499T|GOPC_ENST00000467125.1_Intron	p.I490T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1667	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	490					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1469T>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	6.642	0.486922	0.12641	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91295	-2.82;-2.82	5.82	4.67	0.58626	.	0.374477	0.23077	N	0.052194	T	0.70780	0.3263	N	0.14661	0.345	0.21841	N	0.999515	B	0.23937	0.094	B	0.16722	0.016	T	0.65302	-0.6201	10	0.72032	D	0.01	.	9.2363	0.37468	0.9193:0.0:0.0807:0.0	.	490	P08922	ROS1_HUMAN	T	490;499	ENSP00000357494:I490T;ENSP00000357493:I499T	ENSP00000357493:I499T	I	-	2	0	ROS1	117817496	0.680000	0.27605	0.324000	0.25361	0.150000	0.21749	3.376000	0.52417	2.224000	0.72417	0.459000	0.35465	ATC		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			16	65	0	0	0	1	0	16	65				
NUMA1	4926	broad.mit.edu	37	11	71732293	71732293	+	Silent	SNP	G	G	A	rs141785503	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:71732293G>A	ENST00000393695.3	-	8	748	c.417C>T	c.(415-417)gaC>gaT	p.D139D	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.D139D|NUMA1_ENST00000351960.6_Silent_p.D139D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGTTTAGCCCGTCCTCATGGT	0.478			T	RARA	APL								G|||	5	0.000998403	0.003	0.0014	5008	,	,		21148	0.0		0.0	False		,,,				2504	0.0					ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(415-417)gaC>gaT		nuclear mitotic apparatus protein 1		G		14,4386	21.2+/-45.6	0,14,2186	160.0	130.0	140.0		417	2.8	1.0	11	dbSNP_134	140	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	NUMA1	NM_006185.2		0,15,6478	AA,AG,GG		0.0116,0.3182,0.1155		139/2116	71732293	15,12971	2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71732293G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.417C>T	11.37:g.71732293G>A						NUMA1_ENST00000358965.6_Silent_p.D139D|NUMA1_ENST00000351960.6_Silent_p.D139D	p.D139D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			8	748	-			139						Silent	SNP	ENST00000393695.3	37	c.417C>T	CCDS31633.1																																																																																				0.478	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			10	131	0	0	0	1	0	10	131				
UNK	85451	broad.mit.edu	37	17	73813557	73813557	+	Missense_Mutation	SNP	G	G	A	rs374489352		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:73813557G>A	ENST00000589666.1	+	9	1365	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	UNK_ENST00000293218.3_Missense_Mutation_p.E495K|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	419							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCGGCTTCGAGAGGGAAGA	0.612																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1483-1485)Gag>Aag		unkempt family zinc finger		G	LYS/GLU	1,3771		0,1,1885	37.0	41.0	39.0		1255	4.8	1.0	17		39	1,8237		0,1,4118	no	missense	UNK	NM_001080419.2	56	0,2,6003	AA,AG,GG		0.0121,0.0265,0.0167	probably-damaging	419/811	73813557	2,12008	1886	4119	6005	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73813557G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1255G>A	17.37:g.73813557G>A	ENSP00000464893:p.Glu419Lys					UNK_ENST00000589666.1_Missense_Mutation_p.E419K	p.E495K			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	1483	+			419						Missense_Mutation	SNP	ENST00000589666.1	37	c.1483G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	31	5.079862	0.94050	2.65E-4	1.21E-4	ENSG00000132478	ENST00000293218	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.75662	-0.3240	9	0.45353	T	0.12	-12.8351	18.0693	0.89400	0.0:0.0:1.0:0.0	.	419	Q9C0B0	UNK_HUMAN	K	495	.	ENSP00000293218:E495K	E	+	1	0	UNK	71325152	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	9.407000	0.97325	2.488000	0.83962	0.563000	0.77884	GAG		0.612	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		7	30	0	0	0	1	0	7	30				
SNORA80E	677823	broad.mit.edu	37	1	116164598	116164598	+	RNA	DEL	A	A	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:116164598delA	ENST00000384771.1	-	0	28																											gcccacagagaagggccccca	0.473																																						ENST00000384771.1																			0																																																			677823							g.chr1:116164598delA																													1.37:g.116164598delA														0	28	-									RNA	DEL	ENST00000384771.1	37																																																																																						0.473	SNORA42.4-201	NOVEL	basic	snoRNA	snoRNA				2	4						2	4	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	5'UTR	DEL	GCC	GCC	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:105412465_105412467delGCC	ENST00000426831.1	-	0	0_2				CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_In_Frame_Del_p.G165del|AC004053.1_ENST00000500179.1_RNA|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4						negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(493-495)del		CXXC finger protein 4																																				SO:0001623	5_prime_UTR_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412465_105412467delGCC		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.-15GGC>-	4.37:g.105412474_105412476delGCC						CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	p.G165del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	943_945	-			0			Interaction with DVL1 (By similarity).			In_Frame_Del	DEL	ENST00000426831.1	37	c.493_495delGGC																																																																																					0.695	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		9	110						9	110	---	---	---	---
CTB-57H20.1	0	broad.mit.edu	37	5	143132079	143132079	+	RNA	DEL	G	G	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:143132079delG	ENST00000503323.1	+	0	379																											ACTGCCCACTGATAGCTCCTC	0.562																																						ENST00000503323.1																			0																																																			0							g.chr5:143132079delG																													5.37:g.143132079delG														0	379	+									RNA	DEL	ENST00000503323.1	37																																																																																						0.562	CTB-57H20.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000371896.1			13	28						13	28	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80744740	80744740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:80744740delT	ENST00000369798.2	+	15	1764	c.1653delT	c.(1651-1653)gctfs	p.A551fs	TTK_ENST00000509894.1_Frame_Shift_Del_p.A550fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.A550fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGATATATGCTATAAAATATG	0.299																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1648-1650)gcfs		TTK protein kinase							66.0	71.0	69.0					6																	80744740		2198	4284	6482	SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80744740delT		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1653delT	6.37:g.80744740delT	ENSP00000358813:p.Ala551fs					TTK_ENST00000369798.2_Frame_Shift_Del_p.A551fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.A550fs	p.A550fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	15	2479	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	551			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	c.1650delT	CCDS4993.1																																																																																				0.299	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			34	155						34	155	---	---	---	---
ARRDC1-AS1	85026	broad.mit.edu	37	9	140510463	140510465	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:140510463_140510465delCCA	ENST00000371417.3	-	3	727_729	c.187_189delTGG	c.(187-189)tggdel	p.W63del	EHMT1_ENST00000462484.1_5'Flank|EHMT1_ENST00000334856.6_5'Flank|EHMT1_ENST00000460843.1_5'Flank|C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		63										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GGTTCAAATTCCAGTTCTCCTTT	0.571																																						ENST00000371417.3																			0				breast(1)|large_intestine(2)	3						c.(187-189)del		chromosome 9 open reading frame 37																																				SO:0001651	inframe_deletion	85026							g.chr9:140510463_140510465delCCA																												ENST00000371417.3:c.187_189delTGG	9.37:g.140510463_140510465delCCA	ENSP00000360471:p.Trp63del					C9orf37_ENST00000496793.1_5'UTR	p.W63del	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	727_729	-	all_cancers(76;0.106)		63					Q17RM5|Q5T368	In_Frame_Del	DEL	ENST00000371417.3	37	c.187_189delTGG	CCDS35189.1																																																																																				0.571	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1			22	52						22	52	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99042592	99042592	+	Splice_Site	DEL	T	T	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:99042592delT	ENST00000551964.1	+	3	1063	c.327delT	c.(325-327)tat>ta	p.Y109fs	APAF1_ENST00000552268.1_Splice_Site_p.Y109fs|APAF1_ENST00000550527.1_Intron|APAF1_ENST00000333991.1_Splice_Site_p.Y109fs|APAF1_ENST00000339433.3_Splice_Site_p.Y109fs|APAF1_ENST00000357310.1_Splice_Site_p.Y109fs|APAF1_ENST00000549007.1_Splice_Site_p.Y109fs|APAF1_ENST00000547045.1_Splice_Site_p.Y109fs|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000547743.1_Frame_Shift_Del_p.Y109fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	109	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TAACTTCGTATGGTTTGTATC	0.373																																						ENST00000547743.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(325-327)tafs		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						169.0	165.0	167.0					12																	99042592		2203	4300	6503	SO:0001630	splice_region_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99042592delT	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.328+1T>-	12.37:g.99042592delT						APAF1_ENST00000359972.2_Intron|APAF1_ENST00000357310.1_Splice_Site_p.Y109_splice|APAF1_ENST00000550527.1_Intron|APAF1_ENST00000549007.1_Splice_Site_p.Y109_splice|APAF1_ENST00000333991.1_Splice_Site_p.Y109_splice|APAF1_ENST00000547045.1_Splice_Site_p.Y109_splice|APAF1_ENST00000552268.1_Splice_Site_p.Y109_splice|APAF1_ENST00000551964.1_Splice_Site_p.Y109_splice|APAF1_ENST00000339433.3_Splice_Site_p.Y109_splice	p.Y109fs			O14727	APAF_HUMAN			3	533	+			109			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	c.327delT	CCDS9069.1																																																																																				0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Frame_Shift_Del	24	104						24	104	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20215682	20215683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:20215682_20215683insT	ENST00000331723.1	+	1	96_97	c.96_97insT	c.(97-99)tttfs	p.F33fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTATTTTTGTTTTTTTACAT	0.381																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(94-99)ttttttfs		olfactory receptor, family 4, subfamily Q, member 3				1,4263		0,1,2131						0.1	0.3			166	1,8253		0,1,4126	no	frameshift	OR4Q3	NM_172194.1		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001589	frameshift_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215682_20215683insT	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.103dupT	14.37:g.20215689_20215689dupT	ENSP00000330049:p.Phe33fs						p.FF32fs	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	96_97	+	all_cancers(95;0.00108)		32					Q6IEX4	Frame_Shift_Ins	INS	ENST00000331723.1	37	c.96_97insT	CCDS32020.1																																																																																				0.381	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			26	169						26	169	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74733220	74733221	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:74733220_74733221insGA	ENST00000392485.2	-	1	194_195	c.22_23insTC	c.(22-24)cccfs	p.P8fs	SRSF2_ENST00000508921.3_Frame_Shift_Ins_p.P8fs|MFSD11_ENST00000586622.1_Intron|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000359995.5_Frame_Shift_Ins_p.P8fs|MFSD11_ENST00000591864.1_Intron|MFSD11_ENST00000590393.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	8					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCACATCGGGAGGGGGGCGG	0.698			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(22-24)cgafs		serine/arginine-rich splicing factor 2																																				SO:0001589	frameshift_variant	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74733220_74733221insGA	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.21_22dupTC	17.37:g.74733221_74733222dupGA	ENSP00000376276:p.Pro8fs					MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_Intron|SRSF2_ENST00000508921.3_Frame_Shift_Ins_p.R8fs|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Frame_Shift_Ins_p.R8fs|MFSD11_ENST00000586622.1_Intron	p.R8fs	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			1	194_195	-			8					B3KWD5|B4DN89|H0YG49	Frame_Shift_Ins	INS	ENST00000392485.2	37	c.22_23insTC	CCDS11749.1																																																																																				0.698	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		7	15						7	15	---	---	---	---
STMN3	50861	broad.mit.edu	37	20	62284693	62284693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:62284693delG	ENST00000370053.1	-	1	87	c.6delC	c.(4-6)gccfs	p.A2fs	STMN3_ENST00000540534.1_5'Flank	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	2					cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AAATGGTGCTGGCCATGGTGC	0.741											OREG0006921	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=STMN3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000370053.1																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8						c.(4-6)gcfs		stathmin-like 3							8.0	8.0	8.0					20																	62284693		2049	4088	6137	SO:0001589	frameshift_variant	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62284693delG	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.6delC	20.37:g.62284693delG	ENSP00000359070:p.Ala2fs		OREG0006921	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=STMN3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1060		p.A2fs	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		1	87	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		2					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Frame_Shift_Del	DEL	ENST00000370053.1	37	c.6delC	CCDS13529.1																																																																																				0.741	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		2	4						2	4	---	---	---	---
