#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACADM	34	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76205772	76205772	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:76205772A>G	ENST00000370841.4	+	7	1013	c.576A>G	c.(574-576)atA>atG	p.I192M	ACADM_ENST00000543667.1_Missense_Mutation_p.I3M|ACADM_ENST00000420607.2_Missense_Mutation_p.I196M|ACADM_ENST00000370834.5_Missense_Mutation_p.I225M|ACADM_ENST00000541113.1_Missense_Mutation_p.I156M	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	192					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.I192M(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGATGTGGATAACCAACGGAG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											108.0	111.0	110.0					1																	76205772		2203	4299	6502	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.576A>G	1.37:g.76205772A>G	ENSP00000359878:p.Ile192Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532238	0.64972	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.99319	-4.23;-4.23;-4.23;-5.74;-4.23	5.46	3.04	0.35103	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.042541	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96691	3.865	0.58432	D	0.999994	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;0.999;0.999	D	0.99327	1.0908	10	0.87932	D	0	.	8.4721	0.32991	0.4086:0.469:0.0:0.1225	.	156;106;225;196;192	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	M	192;225;156;3;196	ENSP00000359878:I192M;ENSP00000359871:I225M;ENSP00000442324:I156M;ENSP00000446176:I3M;ENSP00000409612:I196M	ENSP00000359871:I225M	I	+	3	3	ACADM	75978360	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.409000	0.44583	0.321000	0.23259	0.528000	0.53228	ATA		0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23549183	23549183	+	Missense_Mutation	SNP	T	T	A	rs112438189		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr14:23549183T>A	ENST00000262710.1	-	6	1862	c.1535A>T	c.(1534-1536)tAc>tTc	p.Y512F	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.Y512F|ACIN1_ENST00000605057.1_Missense_Mutation_p.Y454F|ACIN1_ENST00000457657.1_Missense_Mutation_p.Y472F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	512					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y512F(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGGGCTGAGTAGTCAGCCAG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											107.0	113.0	111.0					14																	23549183		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1535A>T	14.37:g.23549183T>A	ENSP00000262710:p.Tyr512Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	2.187	-0.386099	0.04966	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.18174	2.23;2.23;2.23	4.88	1.58	0.23477	.	1.058680	0.07538	N	0.913411	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	B;B;B	0.27316	0.175;0.109;0.109	B;B;B	0.26416	0.069;0.031;0.031	T	0.41466	-0.9507	10	0.10111	T	0.7	0.5527	5.1091	0.14800	0.0:0.2548:0.3439:0.4013	.	512;512;472	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	F	512;472;512	ENSP00000262710:Y512F;ENSP00000405677:Y472F;ENSP00000451328:Y512F	ENSP00000262710:Y512F	Y	-	2	0	ACIN1	22619023	1.000000	0.71417	0.805000	0.32314	0.780000	0.44128	0.832000	0.27490	0.102000	0.17638	0.528000	0.53228	TAC		0.493	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977	
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	970662	970662	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:970662C>A	ENST00000379370.2	+	3	519	c.469C>A	c.(469-471)Ccc>Acc	p.P157T	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	157	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.P157T(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCCAGATAAACCCGGGACCCA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											140.0	149.0	146.0					1																	970662		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.469C>A	1.37:g.970662C>A	ENSP00000368678:p.Pro157Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956833	0.34565	.	.	ENSG00000188157	ENST00000379370	T	0.41065	1.01	3.98	3.03	0.35002	Agrin NtA (2);Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.295883	0.22682	U	0.056927	T	0.37839	0.1018	N	0.24115	0.695	0.33608	D	0.603227	D	0.55385	0.971	P	0.53954	0.738	T	0.44498	-0.9324	10	0.22109	T	0.4	-1.4971	11.1594	0.48507	0.0:0.8126:0.1873:0.0	.	157	O00468	AGRIN_HUMAN	T	157	ENSP00000368678:P157T	ENSP00000368678:P157T	P	+	1	0	AGRN	960525	0.414000	0.25408	0.685000	0.30070	0.002000	0.02628	0.612000	0.24283	0.767000	0.33267	-0.508000	0.04489	CCC		0.612	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576	
ACOT7	11332	broad.mit.edu	37	1	6387379	6387379	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:6387379A>G	ENST00000377855.2	-	5	781	c.635T>C	c.(634-636)gTc>gCc	p.V212A	ACOT7_ENST00000608083.1_Missense_Mutation_p.V170A|ACOT7_ENST00000541130.1_Missense_Mutation_p.V182A|ACOT7_ENST00000377845.3_Missense_Mutation_p.V182A|ACOT7_ENST00000377842.3_Missense_Mutation_p.V161A|ACOT7_ENST00000545482.1_Missense_Mutation_p.V97A|ACOT7_ENST00000361521.4_Missense_Mutation_p.V202A	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	212					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.V202A(3)|p.V161A(2)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GACTGGCTGGACGATGTCCCC	0.652																																					GBM(74;673 1226 4974 11850 13190)												5	Substitution - Missense(5)	lung(2)|kidney(2)|prostate(1)											106.0	78.0	87.0					1																	6387379		2203	4300	6503	SO:0001583	missense	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.635T>C	1.37:g.6387379A>G	ENSP00000367086:p.Val212Ala	Somatic		WXS	Illumina GAIIx	Phase_I	A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	CCDS65.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118323	0.56505	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482;ENST00000541130	T;T;T;T;T;T	0.43688	1.46;1.49;1.52;1.5;1.54;0.94	5.28	5.28	0.74379	.	0.428985	0.24664	N	0.036618	T	0.30355	0.0762	L	0.29908	0.895	0.34348	D	0.689552	B;B;B;B	0.21606	0.053;0.005;0.058;0.034	B;B;B;B	0.18561	0.014;0.008;0.022;0.022	T	0.34675	-0.9819	10	0.13108	T	0.6	.	14.0493	0.64725	1.0:0.0:0.0:0.0	.	202;212;182;161	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	A	212;182;161;202;97;182	ENSP00000367086:V212A;ENSP00000367076:V182A;ENSP00000367073:V161A;ENSP00000354615:V202A;ENSP00000439218:V97A;ENSP00000441872:V182A	ENSP00000354615:V202A	V	-	2	0	ACOT7	6309966	0.938000	0.31826	0.938000	0.37757	0.848000	0.48234	5.719000	0.68462	1.988000	0.58038	0.528000	0.53228	GTC		0.652	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1		NM_007274	
AP4B1	10717	broad.mit.edu;ucsc.edu	37	1	114439000	114439000	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:114439000C>A	ENST00000369569.1	-	8	1670	c.1390G>T	c.(1390-1392)Gtg>Ttg	p.V464L	AP4B1_ENST00000369567.1_Missense_Mutation_p.V296L|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.V464L|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	464					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.V464L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCGACTTCACATTCTCAACA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											180.0	174.0	176.0					1																	114439000		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1390G>T	1.37:g.114439000C>A	ENSP00000358582:p.Val464Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164426	0.38217	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.06768	3.26;3.26;3.26	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.115297	0.64402	D	0.000012	T	0.02767	0.0083	N	0.19112	0.55	0.80722	D	1	B;B;B	0.17038	0.02;0.009;0.001	B;B;B	0.18871	0.023;0.02;0.005	T	0.35624	-0.9781	10	0.52906	T	0.07	-4.2682	10.8465	0.46746	0.0:0.861:0.0:0.139	.	296;464;365	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	L	296;464;464	ENSP00000358580:V296L;ENSP00000358582:V464L;ENSP00000256658:V464L	ENSP00000256658:V464L	V	-	1	0	AP4B1	114240523	0.953000	0.32496	0.995000	0.50966	0.960000	0.62799	2.002000	0.40835	2.873000	0.98535	0.563000	0.77884	GTG		0.478	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1		NM_006594	
AZU1	566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	830861	830861	+	Missense_Mutation	SNP	G	G	A	rs145363133		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr19:830861G>A	ENST00000233997.2	+	4	535	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)	p.V172M(1)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTGTCAACGTGACTGTGAC	0.672																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	0,4406		0,0,2203	43.0	41.0	42.0		514	0.3	0.0	19	dbSNP_134	42	3,8597	3.0+/-9.4	0,3,4297	no	missense	AZU1	NM_001700.3	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	172/252	830861	3,13003	2203	4300	6503	SO:0001583	missense	566			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.514G>A	19.37:g.830861G>A	ENSP00000233997:p.Val172Met	Somatic		WXS	Illumina HiSeq	Phase_I	P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726736	0.30593	0.0	3.49E-4	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.90504	-2.68	1.51	0.348	0.16026	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93979	0.8072	M	0.84846	2.72	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84261	0.0483	9	0.48119	T	0.1	.	4.8025	0.13303	0.0:0.0:0.6386:0.3614	.	172	P20160	CAP7_HUMAN	M	186;172	ENSP00000233997:V172M	ENSP00000233997:V172M	V	+	1	0	AZU1	781861	0.070000	0.21116	0.001000	0.08648	0.006000	0.05464	1.046000	0.30354	0.148000	0.19059	0.561000	0.74099	GTG		0.672	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2		NM_001700	
BPI	671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36946865	36946865	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr20:36946865C>A	ENST00000262865.4	+	6	752	c.663C>A	c.(661-663)ttC>ttA	p.F221L	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	221					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.F221L(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AACCTTATTTCCAGACTCTGC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											132.0	126.0	128.0					20																	36946865		2203	4300	6503	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.663C>A	20.37:g.36946865C>A	ENSP00000262865:p.Phe221Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.111|2.111	-0.403681|-0.403681	0.04832|0.04832	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.01629|.	4.72|.	4.34|4.34	1.15|1.15	0.20763|0.20763	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	1.539860|.	0.03617|.	N|.	0.235753|.	T|T	0.07908|0.07908	0.0198|0.0198	N|N	0.00554|0.00554	-1.385|-1.385	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.37526|0.37526	-0.9702|-0.9702	10|5	0.02654|.	T|.	1|.	-5.993|-5.993	8.4718|8.4718	0.32991|0.32991	0.1665:0.5221:0.3114:0.0|0.1665:0.5221:0.3114:0.0	.|.	221|.	P17213|.	BPI_HUMAN|.	L|Y	221|47	ENSP00000262865:F221L|.	ENSP00000262865:F221L|.	F|S	+|+	3|2	2|0	BPI|BPI	36380279|36380279	0.408000|0.408000	0.25360|0.25360	0.001000|0.001000	0.08648|0.08648	0.413000|0.413000	0.31143|0.31143	0.642000|0.642000	0.24735|0.24735	0.150000|0.150000	0.19136|0.19136	0.555000|0.555000	0.69702|0.69702	TTC|TCC		0.502	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		NM_001725	
CCDC185	164127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223568377	223568377	+	Silent	SNP	C	C	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:223568377C>T	ENST00000366875.3	+	1	1663	c.1560C>T	c.(1558-1560)caC>caT	p.H520H		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		520								p.H520H(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAGGAGTCACGTGCACAAGA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	112.0	108.0					1																	223568377		2202	4300	6502	SO:0001819	synonymous_variant	164127																														ENST00000366875.3:c.1560C>T	1.37:g.223568377C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	CCDS1537.1																																																																																				0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			
C3orf17	25871	broad.mit.edu;hgsc.bcm.edu	37	3	112732116	112732116	+	Intron	SNP	T	T	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:112732116T>C	ENST00000314400.5	-	4	665				C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17						negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TATTCAAGGATACAGAAAAGT	0.398																																																	1	Unknown(1)	kidney(1)											85.0	90.0	88.0					3																	112732116		2203	4300	6503	SO:0001627	intron_variant	25871			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.473+2A>G	3.37:g.112732116T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	RNA	SNP	ENST00000314400.5	37	CCDS33824.1																																																																																				0.398	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3		NM_015412	
CCDC59	29080	hgsc.bcm.edu;ucsc.edu	37	12	82752142	82752143	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr12:82752142_82752143delCT	ENST00000256151.7	-	1	424_425	c.13_14delAG	c.(13-15)aggfs	p.R6fs	CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000248306.3_5'Flank	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CGCGGACCGCCTCACCGGCGCC	0.574											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.13_14delAG	12.37:g.82752142_82752143delCT	ENSP00000256151:p.Arg6fs	Somatic	1216	WXS	Illumina HiSeq	Phase_I	Q9H2V5|Q9NW62	Frame_Shift_Del	DEL	ENST00000256151.7	37	CCDS9023.1																																																																																				0.574	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1		NM_014167	
CLCC1	23155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109482394	109482394	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:109482394A>T	ENST00000369971.2	-	9	1034	c.905T>A	c.(904-906)gTt>gAt	p.V302D	CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369968.2_Missense_Mutation_p.V117D|CLCC1_ENST00000348264.2_Missense_Mutation_p.V117D|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.V302D|CLCC1_ENST00000369970.3_Missense_Mutation_p.V252D|CLCC1_ENST00000415331.1_Missense_Mutation_p.V252D|CLCC1_ENST00000369969.2_Missense_Mutation_p.V181D|CLCC1_ENST00000302500.4_Missense_Mutation_p.V181D	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	302						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.V302D(1)|p.V252D(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GGTGAATGTAACTGCAAGTGC	0.388																																																	2	Substitution - Missense(2)	kidney(2)											85.0	76.0	79.0					1																	109482394		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.905T>A	1.37:g.109482394A>T	ENSP00000358988:p.Val302Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390469	0.82902	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.17	5.17	0.71159	.	0.287716	0.34067	N	0.004294	T	0.60130	0.2245	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;0.996;0.997	D;D;P;D	0.72338	0.977;0.917;0.872;0.931	T	0.66384	-0.5937	10	0.72032	D	0.01	-19.6428	15.0035	0.71492	1.0:0.0:0.0:0.0	.	117;181;252;302	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	D	302;302;252;181;117;252;117;181	ENSP00000349456:V302D;ENSP00000358988:V302D;ENSP00000411591:V252D;ENSP00000358986:V181D;ENSP00000358985:V117D;ENSP00000358987:V252D;ENSP00000337243:V117D;ENSP00000306552:V181D	ENSP00000306552:V181D	V	-	2	0	CLCC1	109283917	0.862000	0.29867	0.999000	0.59377	0.977000	0.68977	6.819000	0.75262	1.939000	0.56221	0.443000	0.29094	GTT		0.388	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1		NM_015127	
CUX1	1523	broad.mit.edu;hgsc.bcm.edu	37	7	101813771	101813771	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr7:101813771C>A	ENST00000292535.7	+	10	807	c.769C>A	c.(769-771)Ctc>Atc	p.L257I	CUX1_ENST00000547394.2_Missense_Mutation_p.L252I|CUX1_ENST00000550008.2_Missense_Mutation_p.L257I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.L222I|CUX1_ENST00000546411.2_Missense_Mutation_p.L257I|CUX1_ENST00000292538.4_Missense_Mutation_p.L268I|CUX1_ENST00000556210.1_Missense_Mutation_p.L257I|CUX1_ENST00000393824.3_Missense_Mutation_p.L231I|CUX1_ENST00000437600.4_Missense_Mutation_p.L268I|CUX1_ENST00000360264.3_Missense_Mutation_p.L268I|CUX1_ENST00000549414.2_Missense_Mutation_p.L257I	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	257					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L268I(1)|p.L257I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGGGAACAGCTCTCATCGGC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											43.0	34.0	37.0					7																	101813771		2203	4299	6502	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.769C>A	7.37:g.101813771C>A	ENSP00000292535:p.Leu257Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811462	0.70797	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.81247	0.93;0.93;0.93;2.19;0.8;0.93;-1.47;0.93;0.93;0.93	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	L	0.42487	1.325	0.80722	D	1	D;D;D;D;D;P;D	0.71674	0.997;0.997;0.997;0.958;0.997;0.825;0.998	P;D;D;P;P;B;D	0.77557	0.837;0.978;0.978;0.693;0.894;0.28;0.99	D	0.86936	0.2076	10	0.59425	D	0.04	-25.3176	20.0826	0.97783	0.0:1.0:0.0:0.0	.	231;257;222;252;268;268;268	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	I	268;252;268;222;268;257;257;257;257;257	ENSP00000292538:L268I;ENSP00000449371:L252I;ENSP00000353401:L268I;ENSP00000409745:L222I;ENSP00000414091:L268I;ENSP00000292535:L257I;ENSP00000446630:L257I;ENSP00000447373:L257I;ENSP00000450125:L257I;ENSP00000451558:L257I	ENSP00000292535:L257I	L	+	1	0	CUX1	101600491	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.999000	0.76283	2.746000	0.94184	0.655000	0.94253	CTC		0.577	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913	
FTL	2512	broad.mit.edu;hgsc.bcm.edu	37	19	49468842	49468842	+	Silent	SNP	G	G	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr19:49468842G>A	ENST00000331825.6	+	1	285	c.78G>A	c.(76-78)caG>caA	p.Q26Q	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	26	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.Q26Q(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TGTACCTGCAGGCCTCCTACA	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											67.0	68.0	68.0					19																	49468842		2203	4300	6503	SO:0001819	synonymous_variant	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.78G>A	19.37:g.49468842G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	CCDS33070.1																																																																																				0.592	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1		NM_000146	
GLDN	342035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51696755	51696755	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr15:51696755C>A	ENST00000335449.6	+	10	1516	c.1460C>A	c.(1459-1461)aCc>aAc	p.T487N	GLDN_ENST00000396399.2_Missense_Mutation_p.T363N	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	487	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T487N(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTCACAGACACCAAAGATATG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											167.0	149.0	155.0					15																	51696755		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1460C>A	15.37:g.51696755C>A	ENSP00000335196:p.Thr487Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048270	0.75846	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90620	-2.7;-2.7	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.44688	D	0.000434	D	0.94679	0.8284	M	0.70595	2.14	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94637	0.7827	10	0.66056	D	0.02	.	15.6492	0.77078	0.1377:0.8623:0.0:0.0	.	487	Q6ZMI3	GLDN_HUMAN	N	487;363;363	ENSP00000335196:T487N;ENSP00000379681:T363N	ENSP00000335196:T487N	T	+	2	0	GLDN	49484047	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.509000	0.60448	2.758000	0.94735	0.563000	0.77884	ACC		0.448	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2		NM_181789	
HPSE2	60495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100481428	100481428	+	Silent	SNP	G	G	A	rs142810016		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr10:100481428G>A	ENST00000370552.3	-	5	1001	c.942C>T	c.(940-942)atC>atT	p.I314I	HPSE2_ENST00000404542.1_Silent_p.I202I|HPSE2_ENST00000370549.1_Silent_p.I256I|HPSE2_ENST00000370546.1_Silent_p.I314I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	314					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.I314I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTAGGAGGGCGATGACATTCT	0.398																																																	2	Substitution - coding silent(2)	kidney(2)											53.0	52.0	52.0					10																	100481428		2203	4300	6503	SO:0001819	synonymous_variant	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.942C>T	10.37:g.100481428G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	CCDS7477.1																																																																																				0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1		NM_021828	
KRTAP10-3	386682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45978577	45978577	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr21:45978577C>A	ENST00000391620.1	-	1	66	c.22G>T	c.(22-24)Gtc>Ttc	p.V8F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	8						keratin filament (GO:0045095)		p.V8F(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						CTGGAGCAGACGGACATGGTA	0.662																																																	1	Substitution - Missense(1)	kidney(1)											66.0	65.0	65.0					21																	45978577		2203	4300	6503	SO:0001583	missense	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.22G>T	21.37:g.45978577C>A	ENSP00000375478:p.Val8Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	7.201	0.593557	0.13875	.	.	ENSG00000212935	ENST00000391620	T	0.12147	2.71	3.39	0.166	0.14999	.	.	.	.	.	T	0.19765	0.0475	M	0.83384	2.64	0.23677	N	0.997138	B	0.31193	0.312	B	0.30782	0.12	T	0.15752	-1.0426	9	0.72032	D	0.01	.	10.0969	0.42480	0.0:0.7943:0.0:0.2057	.	8	P60369	KR103_HUMAN	F	8	ENSP00000375478:V8F	ENSP00000375478:V8F	V	-	1	0	KRTAP10-3	44803005	0.005000	0.15991	0.630000	0.29268	0.142000	0.21351	-0.094000	0.11094	-0.033000	0.13736	-1.393000	0.01150	GTC		0.662	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			
LUC7L3	51747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48818534	48818534	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr17:48818534T>G	ENST00000505658.1	+	4	467	c.278T>G	c.(277-279)cTt>cGt	p.L93R	LUC7L3_ENST00000240304.1_Missense_Mutation_p.L93R|LUC7L3_ENST00000544170.1_Missense_Mutation_p.L17R|LUC7L3_ENST00000393227.2_Missense_Mutation_p.L93R			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	93					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.L93R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						CAGAGCTTACTTGCAGAAGTA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											164.0	159.0	160.0					17																	48818534		2203	4300	6503	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.278T>G	17.37:g.48818534T>G	ENSP00000425092:p.Leu93Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540124	0.85917	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000505619;ENST00000544170;ENST00000510984	T;T;T;T;T	0.48836	1.39;1.39;1.39;0.82;0.8	5.95	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.73598	2.24	0.80722	D	1	D;P;D	0.63046	0.992;0.918;0.96	D;P;P	0.70227	0.968;0.761;0.857	T	0.70575	-0.4834	10	0.87932	D	0	-8.1058	12.5958	0.56468	0.1239:0.0:0.0:0.8761	.	17;93;93	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	R	93;93;93;93;142;17;17	ENSP00000425092:L93R;ENSP00000376919:L93R;ENSP00000240304:L93R;ENSP00000420933:L142R;ENSP00000444253:L17R	ENSP00000240304:L93R	L	+	2	0	LUC7L3	46173533	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.235000	0.72332	2.272000	0.75746	0.460000	0.39030	CTT		0.408	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2		NM_016424	
NDE1	54820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15761201	15761202	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr16:15761201_15761202GC>AG	ENST00000396353.2	+	4	968_969	c.142_143GC>AG	c.(142-144)GCt>AGt	p.A48S	NDE1_ENST00000396355.1_Missense_Mutation_p.A48S|NDE1_ENST00000342673.5_Missense_Mutation_p.A48S|NDE1_ENST00000396354.1_Missense_Mutation_p.A48S			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	48	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)	p.A48>?(1)|p.A48G(1)|p.A48T(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGAATATGAAGCTGAATTGGAG	0.45																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	Exception_encountered	16.37:g.15761201_15761202delinsAG	ENSP00000379641:p.Ala48Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37																																																																																					0.450	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017668	
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49059885	49059885	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:49059885A>G	ENST00000326925.6	+	2	1318	c.184A>G	c.(184-186)Agc>Ggc	p.S62G	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.S5G|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.S5G|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.S5G|DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000313778.5_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	62					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.S62G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GTACATCGACAGCTACAACAG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											22.0	23.0	23.0					3																	49059885		2200	4298	6498	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.184A>G	3.37:g.49059885A>G	ENSP00000323076:p.Ser62Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939286	0.52972	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.29	2.75	0.32379	.	0.163360	0.64402	D	0.000003	T	0.55337	0.1914	N	0.25485	0.75	0.37386	D	0.912252	B	0.25048	0.117	B	0.28011	0.085	T	0.50381	-0.8835	10	0.02654	T	1	-24.6886	9.8529	0.41068	0.7284:0.0:0.0:0.2716	.	62	Q9BU61	NDUF3_HUMAN	G	5;62;5;5	ENSP00000323003:S5G;ENSP00000323076:S62G;ENSP00000378843:S5G;ENSP00000402465:S5G	ENSP00000323003:S5G	S	+	1	0	NDUFAF3	49034889	0.992000	0.36948	1.000000	0.80357	0.851000	0.48451	2.460000	0.45031	0.825000	0.34637	-0.327000	0.08410	AGC		0.652	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2		NM_199069	
NIT2	56954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	100059917	100059918	+	Splice_Site	DNP	GC	GC	TT			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:100059917_100059918GC>TT	ENST00000394140.4	+	4	339_340	c.248_249GC>TT	c.(247-249)gGC>gTT	p.G83V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	83	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.G83V(1)|p.G83G(1)|p.G83>?(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TCAATGAAAGGCTCTATCCCTG	0.371																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001630	splice_region_variant	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	Exception_encountered	3.37:g.100059917_100059918delinsTT		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation|Silent	SNP	ENST00000394140.4	37	CCDS33806.1																																																																																				0.371	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2		NM_020202	Missense_Mutation
OR2H2	7932	broad.mit.edu;hgsc.bcm.edu	37	6	29556320	29556320	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr6:29556320C>T	ENST00000383640.2	+	1	638	c.599C>T	c.(598-600)gCc>gTc	p.A200V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	200					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A200V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTGGCTGTTGCCAGTGTCTTC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											156.0	135.0	143.0					6																	29556320		1511	2708	4219	SO:0001583	missense	7932				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.599C>T	6.37:g.29556320C>T	ENSP00000373136:p.Ala200Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	0.285	-0.983717	0.02180	.	.	ENSG00000204657	ENST00000383640	T	0.00032	8.88	4.24	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.184697	0.26590	N	0.023524	T	0.00039	0.0001	N	0.05124	-0.11	0.09310	N	1	P	0.43287	0.802	P	0.49922	0.626	T	0.13737	-1.0498	10	0.02654	T	1	.	5.1115	0.14811	0.0:0.6335:0.1745:0.192	.	200	O95918	OR2H2_HUMAN	V	200	ENSP00000373136:A200V	ENSP00000373136:A200V	A	+	2	0	OR2H2	29664299	0.000000	0.05858	0.586000	0.28679	0.927000	0.56198	-0.082000	0.11304	0.413000	0.25759	0.585000	0.79938	GCC		0.532	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			
PARP1	142	broad.mit.edu;ucsc.edu	37	1	226564845	226564845	+	Silent	SNP	G	G	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:226564845G>C	ENST00000366794.5	-	13	2048	c.1905C>G	c.(1903-1905)ccC>ccG	p.P635P		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	635					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P635P(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGAACTTTTTGGGATACTTCG	0.438								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									2	Substitution - coding silent(2)	lung(1)|kidney(1)											183.0	188.0	186.0					1																	226564845		2203	4300	6503	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1905C>G	1.37:g.226564845G>C		Somatic		WXS	Illumina GAIIx	Phase_I	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.438	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52702612	52702612	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:52702612T>A	ENST00000296302.7	-	3	287	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K96*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K96*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K96*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K96*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K96*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K96*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K96*			Q86U86	PB1_HUMAN	polybromo 1	96	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K96*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTTGGATTTTCATCAAGTCA	0.308			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											77.0	71.0	73.0					3																	52702612		2203	4298	6501	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.286A>T	3.37:g.52702612T>A	ENSP00000296302:p.Lys96*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.432152	0.83776	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.651	15.906	0.79430	0.0:0.0:0.0:1.0	.	.	.	.	X	96;96;96;96;96;96;96;96;96;40;96;96;96	.	ENSP00000296302:K96X	K	-	1	0	PBRM1	52677652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.292000	0.78731	2.216000	0.71823	0.533000	0.62120	AAA		0.308	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PLB1	151056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28752200	28752200	+	Silent	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr2:28752200C>A	ENST00000327757.5	+	7	386	c.342C>A	c.(340-342)atC>atA	p.I114I	PLB1_ENST00000422425.2_Silent_p.I114I	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	114	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.I114I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGACATCATCAGATATTTCA	0.502																																																	2	Substitution - coding silent(2)	kidney(2)											196.0	171.0	180.0					2																	28752200		2203	4300	6503	SO:0001819	synonymous_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.342C>A	2.37:g.28752200C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	2.378	-0.342666	0.05243	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.49	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.7514	9.2347	0.37459	0.0:0.9036:0.0:0.0964	.	.	.	.	X	113	.	.	S	+	2	0	PLB1	28605704	0.348000	0.24861	0.934000	0.37439	0.277000	0.26821	0.458000	0.21892	2.578000	0.87016	0.655000	0.94253	TCA		0.502	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			
PSMF1	9491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1144992	1144992	+	Silent	SNP	C	C	T	rs376298956		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr20:1144992C>T	ENST00000335877.6	+	6	812	c.636C>T	c.(634-636)ccC>ccT	p.P212P	PSMF1_ENST00000381898.4_Silent_p.P124P|PSMF1_ENST00000246015.4_Silent_p.P212P|PSMF1_ENST00000438768.2_Silent_p.P150P|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Silent_p.P212P	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	212	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.P212P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TTGTGGATCCCCTGAGATCTG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											224.0	231.0	229.0					20																	1144992		2203	4300	6503	SO:0001819	synonymous_variant	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.636C>T	20.37:g.1144992C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382197	0.24944	.	.	ENSG00000125818	ENST00000435720	T	0.69175	-0.38	5.95	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67741	-0.5592	7	0.87932	D	0	-9.9435	5.0687	0.14594	0.0:0.5131:0.2494:0.2375	.	.	.	.	S	54	ENSP00000396547:P54S	ENSP00000396547:P54S	P	+	1	0	PSMF1	1092992	0.568000	0.26635	1.000000	0.80357	0.998000	0.95712	-0.181000	0.09740	0.866000	0.35629	0.655000	0.94253	CCT		0.582	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2		NM_178578	
RABEP1	9135	hgsc.bcm.edu	37	17	5268432	5268432	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr17:5268432C>A	ENST00000546142.2	+	11	1871	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M	RABEP1_ENST00000408982.2_Missense_Mutation_p.L562M|RABEP1_ENST00000262477.6_Missense_Mutation_p.L562M|RABEP1_ENST00000341923.6_Missense_Mutation_p.L562M|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000537505.1_Missense_Mutation_p.L519M|NUP88_ENST00000573169.1_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	562					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.L562M(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAAACTACAGCTGATGCTAAG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											98.0	89.0	92.0					17																	5268432		1835	4091	5926	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1684C>A	17.37:g.5268432C>A	ENSP00000437701:p.Leu562Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274134	0.23221	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.96	0.54	0.17163	Rabaptin coiled-coil domain (1);	0.647173	0.15290	N	0.270214	T	0.13543	0.0328	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.31026	0.088;0.108;0.108;0.304;0.088	B;B;B;B;B	0.32022	0.086;0.139;0.139;0.139;0.046	T	0.08868	-1.0701	10	0.56958	D	0.05	-1.1748	3.8334	0.08883	0.0757:0.252:0.4066:0.2657	.	519;519;555;562;562	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	M	562;562;555;562;562;519	ENSP00000262477:L562M;ENSP00000386150:L562M;ENSP00000437701:L562M;ENSP00000339569:L562M;ENSP00000445408:L519M	ENSP00000262477:L562M	L	+	1	2	RABEP1	5209156	1.000000	0.71417	0.989000	0.46669	0.725000	0.41563	2.988000	0.49386	0.061000	0.16311	-1.113000	0.02065	CTG		0.323	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1		NM_004703	
SCAP	22937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47455554	47455554	+	Silent	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:47455554T>A	ENST00000265565.5	-	23	4042	c.3630A>T	c.(3628-3630)tcA>tcT	p.S1210S	SCAP_ENST00000441517.2_Silent_p.S954S|SCAP_ENST00000545718.1_Silent_p.S817S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1210	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.S1210S(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCAGGTTGTCTGAGATGACAC	0.542																																					Pancreas(149;978 1908 29304 37806 46700)												1	Substitution - coding silent(1)	kidney(1)											68.0	72.0	70.0					3																	47455554		2203	4300	6503	SO:0001819	synonymous_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3630A>T	3.37:g.47455554T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																				0.542	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2		NM_012235	
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	42531862	42531862	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr18:42531862C>A	ENST00000282030.5	+	4	2853	c.2557C>A	c.(2557-2559)Ctg>Atg	p.L853M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	853						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L799M(1)|p.L853M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAAATCACGCTGTCCCCTGT	0.562									Schinzel-Giedion syndrome																																								2	Substitution - Missense(2)	kidney(2)											87.0	59.0	68.0					18																	42531862		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2557C>A	18.37:g.42531862C>A	ENSP00000282030:p.Leu853Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113307	0.37339	.	.	ENSG00000152217	ENST00000282030	D	0.90004	-2.6	6.17	3.7	0.42460	.	0.000000	0.64402	D	0.000002	D	0.89090	0.6616	N	0.19112	0.55	0.30631	N	0.757486	D	0.89917	1.0	D	0.85130	0.997	D	0.86304	0.1682	10	0.35671	T	0.21	.	13.5605	0.61786	0.0:0.8969:0.0:0.1031	.	853	Q9Y6X0	SETBP_HUMAN	M	853	ENSP00000282030:L853M	ENSP00000282030:L853M	L	+	1	2	SETBP1	40785860	0.845000	0.29573	0.850000	0.33497	0.996000	0.88848	1.695000	0.37763	0.551000	0.29008	0.655000	0.94253	CTG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4		NM_001130110	
SKIV2L2	23517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54618206	54618206	+	Silent	SNP	T	T	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr5:54618206T>C	ENST00000230640.5	+	2	440	c.186T>C	c.(184-186)aaT>aaC	p.N62N	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	62					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.N62N(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGGAAAAAATAAGAGAGATG	0.318																																					Melanoma(2;92 134 23744 29976 33782)												1	Substitution - coding silent(1)	kidney(1)											97.0	108.0	104.0					5																	54618206		2203	4300	6503	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.186T>C	5.37:g.54618206T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.318	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			
NPR2	4882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35810979	35810979	+	IGR	SNP	G	G	A	rs199668156		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr9:35810979G>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Missense_Mutation_p.R312W|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.R314W|SPAG8_ENST00000396638.2_Missense_Mutation_p.R314W|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R314W(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCAGTCCCCGGTGTCCGTGT	0.537																																																	2	Substitution - Missense(2)	kidney(2)											151.0	153.0	153.0					9																	35810979		2203	4300	6503	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810979G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135390	0.56828	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	T;T;T	0.35236	1.32;1.36;1.36	5.99	5.05	0.67936	.	0.612018	0.14265	N	0.330541	T	0.43897	0.1268	L	0.40543	1.245	0.26472	N	0.975264	D;D	0.71674	0.998;0.998	P;P	0.53649	0.731;0.731	T	0.32561	-0.9902	10	0.87932	D	0	-3.4433	14.0475	0.64714	0.0:0.1637:0.8363:0.0	.	314;314	E9PDV6;Q99932-2	.;.	W	314;312;314	ENSP00000340982:R314W;ENSP00000418072:R312W;ENSP00000379878:R314W	ENSP00000340982:R314W	R	-	1	2	SPAG8	35800979	0.986000	0.35501	0.989000	0.46669	0.734000	0.41952	2.049000	0.41288	2.840000	0.97914	0.655000	0.94253	CGG		0.537	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			
ST8SIA3	51046	broad.mit.edu;ucsc.edu	37	18	55020256	55020256	+	Splice_Site	SNP	G	G	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr18:55020256G>T	ENST00000324000.3	+	1	2213	c.179G>T	c.(178-180)cGg>cTg	p.R60L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	60					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R60L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCGGGATTCCGGTGAGTGCGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											45.0	47.0	46.0					18																	55020256		2203	4300	6503	SO:0001630	splice_region_variant	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.179+1G>T	18.37:g.55020256G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337878	0.81911	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.53206	0.63	4.69	4.69	0.59074	.	0.053076	0.64402	D	0.000001	T	0.45094	0.1325	L	0.58101	1.795	0.80722	D	1	B	0.31318	0.319	B	0.27262	0.078	T	0.44726	-0.9309	10	0.38643	T	0.18	-18.768	16.4126	0.83723	0.0:0.0:1.0:0.0	.	60	O43173	SIA8C_HUMAN	L	167;60	ENSP00000320431:R60L	ENSP00000320431:R60L	R	+	2	0	ST8SIA3	53171254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.798000	0.75155	2.158000	0.67659	0.591000	0.81541	CGG		0.597	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1		NM_015879	Missense_Mutation
SYT15	83849	broad.mit.edu;hgsc.bcm.edu	37	10	46968685	46968685	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr10:46968685T>G	ENST00000374321.4	-	3	317	c.251A>C	c.(250-252)cAa>cCa	p.Q84P	SYT15_ENST00000503753.1_Missense_Mutation_p.Q84P|SYT15_ENST00000374325.3_Missense_Mutation_p.Q84P|SYT15_ENST00000374323.4_Missense_Mutation_p.Q137P|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q84P(2)|p.Q136P(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						ATCTCGGCCTTGAAGGGTTGG	0.642																																					Ovarian(57;1152 1428 19651 37745)												3	Substitution - Missense(3)	kidney(3)											63.0	75.0	71.0					10																	46968685		2146	4252	6398	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.251A>C	10.37:g.46968685T>G	ENSP00000363441:p.Gln84Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	t	10.75	1.439203	0.25900	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.15017	2.46;2.46;2.78;2.69	4.37	1.93	0.25924	.	0.962198	0.08675	N	0.910301	T	0.17066	0.0410	M	0.65975	2.015	0.32766	N	0.504383	P;B	0.36535	0.557;0.019	B;B	0.30943	0.122;0.004	T	0.22765	-1.0207	10	0.46703	T	0.11	.	6.1608	0.20364	0.0:0.3466:0.0:0.6534	.	84;84	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	P	84;84;84;137;84	ENSP00000363445:Q84P;ENSP00000427607:Q84P;ENSP00000363443:Q137P;ENSP00000363441:Q84P	ENSP00000363441:Q84P	Q	-	2	0	SYT15	46388691	0.923000	0.31300	0.893000	0.35052	0.428000	0.31595	0.276000	0.18716	0.296000	0.22592	-0.375000	0.07067	CAA		0.642	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912	
SUPV3L1	6832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70967647	70967647	+	Silent	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr10:70967647C>A	ENST00000359655.4	+	14	1935	c.1875C>A	c.(1873-1875)ctC>ctA	p.L625L		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	625					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L625L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAAAGACCTCATGGATCTTG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											174.0	161.0	166.0					10																	70967647		2203	4300	6503	SO:0001819	synonymous_variant	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1875C>A	10.37:g.70967647C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K301|O43630	Silent	SNP	ENST00000359655.4	37	CCDS7287.1																																																																																				0.418	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2		NM_003171	
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35086135	35086135	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr6:35086135G>T	ENST00000512012.1	-	9	1579	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K	TCP11_ENST00000412155.2_Missense_Mutation_p.Q437K|TCP11_ENST00000311875.5_Missense_Mutation_p.Q488K|TCP11_ENST00000373974.4_Missense_Mutation_p.Q442K|TCP11_ENST00000373979.2_Missense_Mutation_p.Q413K|TCP11_ENST00000444780.2_Missense_Mutation_p.Q483K|TCP11_ENST00000244645.3_Missense_Mutation_p.Q413K|TCP11_ENST00000418521.2_Missense_Mutation_p.Q412K			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	475					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q488K(1)|p.Q413K(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AACACCTGCTGATTGTGATGT	0.488																																																	2	Substitution - Missense(2)	kidney(2)											168.0	162.0	164.0					6																	35086135		2203	4300	6503	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1423C>A	6.37:g.35086135G>T	ENSP00000425995:p.Gln475Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	G	6.256	0.415428	0.11870	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012	T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87	5.32	5.32	0.75619	.	0.077795	0.49916	D	0.000128	T	0.03739	0.0106	L	0.37800	1.135	0.35387	D	0.790441	B;B;P;P;B;B	0.36222	0.294;0.294;0.544;0.544;0.294;0.036	B;B;B;B;B;B	0.36959	0.124;0.124;0.237;0.237;0.151;0.03	T	0.37454	-0.9705	10	0.12430	T	0.62	.	12.021	0.53344	0.0:0.0:0.7112:0.2888	.	442;437;483;548;475;413	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	K	413;437;413;488;483;442;412;475	ENSP00000363091:Q413K;ENSP00000402816:Q437K;ENSP00000244645:Q413K;ENSP00000308708:Q488K;ENSP00000404479:Q483K;ENSP00000363085:Q442K;ENSP00000415320:Q412K;ENSP00000425995:Q475K	ENSP00000244645:Q413K	Q	-	1	0	TCP11	35194113	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.272000	0.58908	2.480000	0.83734	0.563000	0.77884	CAG		0.488	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1		NM_001093728	
UBE2H	7328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129592346	129592346	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr7:129592346T>A	ENST00000355621.3	-	1	443	c.50A>T	c.(49-51)aAg>aTg	p.K17M	RP11-306G20.1_ENST00000587038.1_RNA|UBE2H_ENST00000473814.2_Missense_Mutation_p.K17M|Y_RNA_ENST00000362646.1_RNA	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	17					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.K17M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					AGGATACAGCTTGACCACGTC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											150.0	126.0	134.0					7																	129592346		2203	4300	6503	SO:0001583	missense	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.50A>T	7.37:g.129592346T>A	ENSP00000347836:p.Lys17Met	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	ENST00000355621.3	37	CCDS5814.1	.	.	.	.	.	.	.	.	.	.	t	16.75	3.208265	0.58343	.	.	ENSG00000186591	ENST00000355621;ENST00000473814;ENST00000472396	T;T;T	0.75477	-0.26;-0.94;-0.8	3.45	3.45	0.39498	Ubiquitin-conjugating enzyme/RWD-like (1);	0.366263	0.28198	N	0.016231	T	0.77837	0.4190	M	0.83223	2.63	0.80722	D	1	B;P	0.50066	0.216;0.931	B;P	0.47981	0.243;0.563	T	0.80908	-0.1172	10	0.87932	D	0	.	8.6258	0.33888	0.0:0.0:0.0:1.0	.	17;17	A4D1L6;P62256	.;UBE2H_HUMAN	M	17	ENSP00000347836:K17M;ENSP00000419097:K17M;ENSP00000419689:K17M	ENSP00000347836:K17M	K	-	2	0	UBE2H	129379582	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.593000	0.61034	1.804000	0.52760	0.248000	0.18094	AAG		0.687	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2		NM_003344	
UBL4B	164153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110655193	110655193	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:110655193T>A	ENST00000334179.3	+	1	132	c.37T>A	c.(37-39)Tgc>Agc	p.C13S	RP4-773N10.6_ENST00000554808.1_RNA	NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	13	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)		p.C13S(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGGCCAGAGATGCAGTCTGAA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											105.0	105.0	105.0					1																	110655193		2203	4300	6503	SO:0001583	missense	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.37T>A	1.37:g.110655193T>A	ENSP00000334044:p.Cys13Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000334179.3	37	CCDS820.1	.	.	.	.	.	.	.	.	.	.	t	18.02	3.530028	0.64860	.	.	ENSG00000186150	ENST00000334179	T	0.72835	-0.69	4.17	4.17	0.49024	Ubiquitin supergroup (1);Ubiquitin (2);	0.132232	0.51477	U	0.000090	T	0.71813	0.3384	L	0.47078	1.49	0.39619	D	0.969995	D	0.76494	0.999	D	0.87578	0.998	T	0.76165	-0.3059	10	0.72032	D	0.01	-0.9326	10.8453	0.46739	0.0:0.0:0.0:1.0	.	13	Q8N7F7	UBL4B_HUMAN	S	13	ENSP00000334044:C13S	ENSP00000334044:C13S	C	+	1	0	UBL4B	110456716	1.000000	0.71417	0.996000	0.52242	0.749000	0.42624	3.511000	0.53400	1.747000	0.51819	0.529000	0.55759	TGC		0.592	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1		NM_203412	
DNM1P47	100216544	broad.mit.edu	37	15	102292829	102292829	+	RNA	SNP	C	C	G	rs543677577		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr15:102292829C>G	ENST00000561463.1	+	0	875									DNM1 pseudogene 47									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597																																																	1	Substitution - Missense(1)	kidney(1)																																										0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292829C>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000561463.1	37																																																																																					0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1		NG_009149	
VHL	7428	broad.mit.edu	37	3	10183794	10183794	+	Nonsense_Mutation	SNP	G	G	A	rs119103277		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454;Illumina Miseq;PacBio			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:10183794G>A	ENST00000256474.2	+	1	1103	c.263G>A	c.(262-264)tGg>tAg	p.W88*	VHL_ENST00000345392.2_Nonsense_Mutation_p.W88*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13.0	16.0	15.0					3																	10183794		2111	4166	6277	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>A	3.37:g.10183794G>A	ENSP00000256474:p.Trp88*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880416	0.97062	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000256474:W88X	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WHSC1L1	54904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38173525	38173525	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr8:38173525T>C	ENST00000317025.8	-	10	2408	c.1891A>G	c.(1891-1893)Aag>Gag	p.K631E	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.K631E|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.K631E|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	631					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K631E(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCCTTTTCTTTAGAGGTTTA	0.383			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	1	Substitution - Missense(1)	kidney(1)											120.0	114.0	116.0					8																	38173525		2008	4180	6188	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1891A>G	8.37:g.38173525T>C	ENSP00000313983:p.Lys631Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709083	0.89018	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95656	-3.77;-3.77;-3.77	5.85	5.85	0.93711	.	0.000000	0.50627	U	0.000110	D	0.97228	0.9094	M	0.65975	2.015	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.985;0.994;0.985	D	0.97604	1.0125	10	0.59425	D	0.04	.	16.236	0.82375	0.0:0.0:0.0:1.0	.	631;631;631	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	E	631;631;568;631	ENSP00000393284:K631E;ENSP00000313983:K631E;ENSP00000434730:K631E	ENSP00000313983:K631E	K	-	1	0	WHSC1L1	38292682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.237000	0.73441	0.528000	0.53228	AAG		0.383	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3		NM_023034	
XPC	7508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14188848	14188848	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:14188848T>G	ENST00000285021.7	-	15	2760	c.2546A>C	c.(2545-2547)aAg>aCg	p.K849T	RP11-434D12.1_ENST00000608606.1_Intron|RP11-434D12.1_ENST00000601399.1_Intron|AC093495.4_ENST00000420253.1_RNA|AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.K812T	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	849	Interaction with CETN2.|Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.K849T(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCCAGCAACTTCCAGTTCCC	0.493			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	1	Substitution - Missense(1)	kidney(1)											58.0	59.0	59.0					3																	14188848		1934	4143	6077	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2546A>C	3.37:g.14188848T>G	ENSP00000285021:p.Lys849Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833076	0.50951	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.39406	1.08;1.11	5.18	5.18	0.71444	.	0.114494	0.64402	D	0.000013	T	0.46386	0.1390	M	0.75615	2.305	0.51767	D	0.999935	P;P	0.42010	0.768;0.768	B;B	0.39379	0.298;0.298	T	0.53704	-0.8401	10	0.52906	T	0.07	-32.864	15.2016	0.73142	0.0:0.0:0.0:1.0	.	812;849	E9PH69;Q01831	.;XPC_HUMAN	T	849;812	ENSP00000285021:K849T;ENSP00000404002:K812T	ENSP00000285021:K849T	K	-	2	0	XPC	14163849	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.964000	0.63701	2.171000	0.68590	0.482000	0.46254	AAG		0.493	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3		NM_004628	
ZNF283	284349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44352476	44352476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr19:44352476G>T	ENST00000324461.7	+	7	2020	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.E436*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E575*(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAAATGTAAGGAATGTGGGAA	0.418																																																	1	Substitution - Nonsense(1)	kidney(1)											72.0	80.0	77.0					19																	44352476		2183	4291	6474	SO:0001587	stop_gained	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1723G>T	19.37:g.44352476G>T	ENSP00000327314:p.Glu575*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835000	0.97003	.	.	ENSG00000167637	ENST00000324461	.	.	.	2.53	-0.0345	0.13896	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.7684	0.18239	0.1256:0.0:0.6852:0.1892	.	.	.	.	X	575	.	ENSP00000327314:E575X	E	+	1	0	ZNF283	49044316	0.000000	0.05858	0.916000	0.36221	0.850000	0.48378	0.262000	0.18460	0.374000	0.24650	-0.251000	0.11542	GAA		0.418	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1		NM_181845	
