#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
ABCA9	10350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67023934	67023934	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:67023934G>A	ENST00000340001.4	-	13	1849	c.1638C>T	c.(1636-1638)caC>caT	p.H546H	ABCA9_ENST00000370732.2_Silent_p.H546H|ABCA9_ENST00000453985.2_Silent_p.H546H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	546	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H546H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTGAAAGTGTGTGATTATAGA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	77.0	77.0					17																	67023934		2203	4300	6503	SO:0001819	synonymous_variant	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1638C>T	17.37:g.67023934G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1																																																																																				0.373	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386	
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22015946	22015946	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr12:22015946C>A	ENST00000261201.4	-	18	2279	c.2280G>T	c.(2278-2280)tgG>tgT	p.W760C	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.W760C|ABCC9_ENST00000345162.2_Missense_Mutation_p.W724C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	760	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.W760C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATTTAATAGCCAAGGCTTTT	0.338																																																	2	Substitution - Missense(2)	kidney(2)											57.0	61.0	60.0					12																	22015946		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2280G>T	12.37:g.22015946C>A	ENSP00000261201:p.Trp760Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296141	0.81025	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96161	0.9115	10	0.87932	D	0	-6.9744	19.6299	0.95698	0.0:1.0:0.0:0.0	.	760;760	O60706;O60706-2	ABCC9_HUMAN;.	C	760;387;760;724	ENSP00000261200:W760C;ENSP00000440521:W387C;ENSP00000261201:W760C;ENSP00000261202:W724C	ENSP00000261200:W760C	W	-	3	0	ABCC9	21907213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.723000	0.93209	0.591000	0.81541	TGG		0.338	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691	
ACOX3	8310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8416611	8416611	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr4:8416611G>A	ENST00000356406.5	-	4	500	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ACOX3_ENST00000413009.2_Silent_p.L141L|ACOX3_ENST00000503233.1_Silent_p.L141L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	141					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.L141L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GAATATATGTGAGATGTCTTT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	102.0	104.0					4																	8416611		2203	4300	6503	SO:0001819	synonymous_variant	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.423C>T	4.37:g.8416611G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96AJ8	Silent	SNP	ENST00000356406.5	37	CCDS3401.1																																																																																				0.403	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			
ATG4C	84938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	63300488	63300488	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr1:63300488T>G	ENST00000317868.4	+	9	1261	c.1054T>G	c.(1054-1056)Ttt>Gtt	p.F352V	ATG4C_ENST00000371120.3_Missense_Mutation_p.F352V	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	352					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.F352V(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CTGCCAATCTTTTGTAGATGT	0.328																																																	2	Substitution - Missense(2)	kidney(2)											171.0	147.0	155.0					1																	63300488		2203	4299	6502	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1054T>G	1.37:g.63300488T>G	ENSP00000322159:p.Phe352Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502327	0.26949	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025;ENST00000414558	T;T	0.40476	1.03;1.03	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.33245	0.995	0.80722	D	1	B	0.20459	0.045	B	0.25405	0.06	T	0.07309	-1.0779	10	0.14656	T	0.56	-11.8731	15.5998	0.76616	0.0:0.0:0.0:1.0	.	352	Q96DT6	ATG4C_HUMAN	V	352;352;352;96	ENSP00000322159:F352V;ENSP00000360161:F352V	ENSP00000322159:F352V	F	+	1	0	ATG4C	63073076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.156000	0.67533	0.477000	0.44152	TTT		0.328	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2		NM_032852	
CCBE1	147372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	57103282	57103282	+	Missense_Mutation	SNP	C	C	T	rs200219373	byFrequency	TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr18:57103282C>T	ENST00000439986.4	-	11	1116	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	CCBE1_ENST00000398179.2_Missense_Mutation_p.R89Q	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	360					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.R360Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGAGTGAGTCCGGTGCCCGAA	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		19157	0.001		0.0	False		,,,				2504	0.001				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												1	Substitution - Missense(1)	kidney(1)											144.0	148.0	147.0					18																	57103282		2203	4300	6503	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1079G>A	18.37:g.57103282C>T	ENSP00000404464:p.Arg360Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645383	0.67358	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;T	0.85013	-1.93;1.61	5.8	3.08	0.35506	.	0.173225	0.47852	N	0.000203	T	0.79969	0.4538	M	0.61703	1.905	0.39325	D	0.965314	B;B;B	0.32203	0.232;0.002;0.36	B;B;B	0.17722	0.013;0.002;0.019	T	0.75964	-0.3132	10	0.51188	T	0.08	-16.7406	11.2118	0.48804	0.0:0.8172:0.0:0.1828	.	89;360;169	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	Q	360;89	ENSP00000404464:R360Q;ENSP00000381241:R89Q	ENSP00000381241:R89Q	R	-	2	0	CCBE1	55254262	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.365000	0.34182	0.379000	0.24794	0.655000	0.94253	CGG		0.532	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2		NM_133459	
CELF6	60677	broad.mit.edu;ucsc.edu	37	15	72597100	72597100	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:72597100A>C	ENST00000569547.1	-	3	452	c.381T>G	c.(379-381)agT>agG	p.S127R	CELF6_ENST00000569311.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.S127R|CELF6_ENST00000539635.1_Intron|CELF6_ENST00000543764.2_Missense_Mutation_p.S12R|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.S127R			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S127R(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTCGGCCCTCACTGGCAGCTG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											126.0	87.0	100.0					15																	72597100		2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.381T>G	15.37:g.72597100A>C	ENSP00000454749:p.Ser127Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	CCDS10242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.67|15.67	2.903552|2.903552	0.52333|0.52333	.|.	.|.	ENSG00000140488|ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764|ENST00000379915	T;T|.	0.36157|.	1.27;2.22|.	5.03|5.03	3.9|3.9	0.45041|0.45041	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.60534|0.60534	0.2276|0.2276	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.69078|.	0.997;0.055;0.296|.	D;B;B|.	0.68353|.	0.957;0.007;0.06|.	T|T	0.57046|0.57046	-0.7878|-0.7878	10|6	0.87932|0.36615	D|T	0|0.2	-0.6368|-0.6368	7.3029|7.3029	0.26430|0.26430	0.9016:0.0:0.0984:0.0|0.9016:0.0:0.0984:0.0	.|.	127;12;127|.	B4DJB6;B4DG28;Q96J87|.	.;.;CELF6_HUMAN|.	R|G	127;127;12|5	ENSP00000287202:S127R;ENSP00000439956:S12R|.	ENSP00000287202:S127R|ENSP00000369247:V5G	S|V	-|-	3|2	2|0	CELF6|CELF6	70384154|70384154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.821000|1.821000	0.39041|0.39041	0.939000|0.939000	0.37446|0.37446	0.533000|0.533000	0.62120|0.62120	AGT|GTG		0.577	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1		NM_052840	
CYP2C8	1558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96805619	96805619	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr10:96805619G>A	ENST00000371270.3	-	6	1003	c.909C>T	c.(907-909)agC>agT	p.S303S	CYP2C8_ENST00000539050.1_Silent_p.S217S|CYP2C8_ENST00000535898.1_Silent_p.S201S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	303					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.S303S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TCAGAGTGGTGCTTGTTGTCT	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											202.0	177.0	185.0					10																	96805619		2203	4300	6503	SO:0001819	synonymous_variant	1558			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.909C>T	10.37:g.96805619G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	CCDS7438.1																																																																																				0.433	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2		NM_000770	
FAM83C	128876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33872048	33872048	+	IGR	SNP	G	G	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr20:33872048G>C	ENST00000374408.3	-	0	3145				EIF6_ENST00000374443.3_Missense_Mutation_p.S81R|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374450.3_Missense_Mutation_p.L42V|EIF6_ENST00000374436.3_Missense_Mutation_p.L42V|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C									p.L42V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTATCGGAGAGCTCGCCCTCG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											74.0	73.0	73.0					20																	33872048		2203	4300	6503	SO:0001628	intergenic_variant	3692			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332		20.37:g.33872048G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.643183|4.643183	0.87859|0.87859	.|.	.|.	ENSG00000242372|ENSG00000242372	ENST00000374436;ENST00000374450;ENST00000456600|ENST00000374443	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77731|0.77731	0.4174|0.4174	M|M	0.85197|0.85197	2.74|2.74	0.48762|0.48762	D|D	0.999704|0.999704	B|D	0.20780|0.56968	0.048|0.978	B|P	0.44133|0.55871	0.442|0.786	T|T	0.82016|0.82016	-0.0666|-0.0666	9|8	0.52906|0.87932	T|D	0.07|0	-10.0888|-10.0888	16.3902|16.3902	0.83532|0.83532	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	42|81	P56537|B7ZBG9	IF6_HUMAN|.	V|R	42|81	.|.	ENSP00000363559:L42V|ENSP00000363566:S81R	L|S	-|-	1|3	0|2	EIF6|EIF6	33335462|33335462	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.969000|0.969000	0.65631|0.65631	5.163000|5.163000	0.64948|0.64948	2.625000|2.625000	0.88918|0.88918	0.561000|0.561000	0.74099|0.74099	CTC|AGC		0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			
FBLN7	129804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	112944841	112944841	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr2:112944841G>A	ENST00000331203.2	+	8	1349	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.A226T|FBLN7_ENST00000409450.3_Missense_Mutation_p.A314T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	360					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A360T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CATGGCCACAGCCTCTGCCCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											81.0	86.0	84.0					2																	112944841		2203	4300	6503	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1078G>A	2.37:g.112944841G>A	ENSP00000331411:p.Ala360Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872570	0.72180	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	T;T;T;D;T	0.82255	0.98;0.98;0.98;-1.59;0.98	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	N	0.19112	0.55	0.58432	D	0.999996	P;D;D	0.89917	0.521;1.0;1.0	B;D;D	0.91635	0.187;0.999;0.974	T	0.76206	-0.3044	10	0.09338	T	0.73	-28.6111	14.5344	0.67950	0.072:0.0:0.928:0.0	.	226;314;360	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	T	360;226;314;254;182	ENSP00000331411:A360T;ENSP00000386822:A226T;ENSP00000387000:A314T;ENSP00000388025:A254T;ENSP00000272559:A182T	ENSP00000272559:A182T	A	+	1	0	FBLN7	112661312	1.000000	0.71417	0.955000	0.39395	0.694000	0.40290	7.129000	0.77225	2.542000	0.85734	0.555000	0.69702	GCC		0.642	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1		NM_153214	
GBF1	8729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104129688	104129688	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr10:104129688G>T	ENST00000369983.3	+	26	3543	c.3283G>T	c.(3283-3285)Ggc>Tgc	p.G1095C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1095					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G1095C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TAGTGTTCGGGGCCCATCCAC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											78.0	78.0	78.0					10																	104129688		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3283G>T	10.37:g.104129688G>T	ENSP00000359000:p.Gly1095Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714918	0.68844	.	.	ENSG00000107862	ENST00000369983	T	0.67523	-0.27	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	P;P;D	0.68765	0.846;0.894;0.96	T	0.78437	-0.2204	10	0.56958	D	0.05	-11.4759	14.1142	0.65142	0.0717:0.0:0.9282:0.0	.	1095;1095;1095	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	1095	ENSP00000359000:G1095C	ENSP00000359000:G1095C	G	+	1	0	GBF1	104119678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	1.490000	0.48466	0.650000	0.86243	GGC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			
KRT78	196374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53242514	53242514	+	Silent	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr12:53242514C>T	ENST00000304620.4	-	1	264	c.201G>A	c.(199-201)ggG>ggA	p.G67G	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	67	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G67G(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACTCCACTCCCCAAACCGCA	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	35.0	36.0					12																	53242514		2203	4300	6503	SO:0001819	synonymous_variant	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.201G>A	12.37:g.53242514C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	CCDS8840.1																																																																																				0.627	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1		NM_173352	
MAP3K9	4293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71267589	71267589	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr14:71267589G>A	ENST00000554752.2	-	2	614	c.615C>T	c.(613-615)gcC>gcT	p.A205A	MAP3K9_ENST00000555993.2_Silent_p.A205A|MAP3K9_ENST00000381250.4_Silent_p.A205A	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A205A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCCTCTTAGGGCAATGATGT	0.532																																					GBM(114;411 1587 13539 28235 50070)												1	Substitution - coding silent(1)	kidney(1)											129.0	114.0	119.0					14																	71267589		2203	4300	6503	SO:0001819	synonymous_variant	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.615C>T	14.37:g.71267589G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																					0.532	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			
MYLK3	91807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46781877	46781877	+	Missense_Mutation	SNP	C	C	T	rs143624767	byFrequency	TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr16:46781877C>T	ENST00000394809.4	-	1	344	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	77					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.G77R(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCATCAGCCCCGCCCGGGCCC	0.687													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)						C	ARG/GLY	2,4400		0,2,2199	18.0	22.0	21.0		229	2.8	0.2	16	dbSNP_134	21	0,8590		0,0,4295	no	missense	MYLK3	NM_182493.2	125	0,2,6494	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	77/820	46781877	2,12990	2201	4295	6496	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.229G>A	16.37:g.46781877C>T	ENSP00000378288:p.Gly77Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	6.247	0.413710	0.11812	4.54E-4	0.0	ENSG00000140795	ENST00000394809	T	0.68331	-0.32	4.81	2.82	0.32997	.	0.000000	0.34603	N	0.003832	T	0.51975	0.1706	L	0.60455	1.87	0.09310	N	0.999999	P	0.51933	0.949	B	0.38616	0.277	T	0.44528	-0.9322	10	0.20046	T	0.44	.	5.3172	0.15862	0.0:0.5991:0.1552:0.2457	.	77	Q32MK0	MYLK3_HUMAN	R	77	ENSP00000378288:G77R	ENSP00000378288:G77R	G	-	1	0	MYLK3	45339378	0.000000	0.05858	0.175000	0.22980	0.003000	0.03518	-0.175000	0.09825	1.138000	0.42230	-0.436000	0.05848	GGG		0.687	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493	
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46252829	46252829	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr20:46252829T>C	ENST00000371998.3	+	4	447		c.e4+2		NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site|NCOA3_ENST00000372004.3_Splice_Site			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AAGAGCAAGGTAATAAAAACA	0.388																																																	1	Unknown(1)	kidney(1)											54.0	51.0	52.0					20																	46252829		2203	4300	6503	SO:0001630	splice_region_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.256+2T>C	20.37:g.46252829T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028184	0.75390	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA3	45686236	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.859000	0.62954	2.371000	0.80710	0.533000	0.62120	.		0.388	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534	Intron
NOD2	64127	hgsc.bcm.edu;ucsc.edu	37	16	50763736	50763736	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr16:50763736A>T	ENST00000300589.2	+	11	3079	c.2974A>T	c.(2974-2976)Aat>Tat	p.N992Y		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	992					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.N992Y(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGGTTGTCCAATAACTGCAT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											129.0	129.0	129.0					16																	50763736		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2974A>T	16.37:g.50763736A>T	ENSP00000300589:p.Asn992Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427715	0.62733	.	.	ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240	T	0.54479	0.57	5.56	4.43	0.53597	.	0.000000	0.64402	D	0.000005	T	0.57154	0.2034	L	0.27053	0.805	0.33966	D	0.646244	D	0.76494	0.999	D	0.87578	0.998	T	0.68413	-0.5415	10	0.72032	D	0.01	.	9.7534	0.40490	0.8277:0.1723:0.0:0.0	.	992	Q9HC29	NOD2_HUMAN	Y	965;992;132	ENSP00000300589:N992Y	ENSP00000300589:N992Y	N	+	1	0	NOD2	49321237	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	0.943000	0.29030	2.122000	0.65172	0.528000	0.53228	AAT		0.498	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		NM_022162	
OR2G2	81470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247752195	247752195	+	Silent	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr1:247752195T>C	ENST00000320065.1	+	1	534	c.534T>C	c.(532-534)gaT>gaC	p.D178D	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D178D(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCAAGTGGATCATTTCATCT	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											185.0	175.0	178.0					1																	247752195		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.534T>C	1.37:g.247752195T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	CCDS31092.1																																																																																				0.542	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52598238	52598238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr3:52598238delC	ENST00000296302.7	-	23	3704	c.3703delG	c.(3703-3705)gtgfs	p.V1235fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V1250fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V1235fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V1250fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V1235fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V1210fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V1203fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V1210fs			Q86U86	PB1_HUMAN	polybromo 1	1235	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)			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)		AATGACAACACAGCACACTTT	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													69.0	68.0	68.0					3																	52598238		2203	4300	6503	SO:0001589	frameshift_variant	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.3703delG	3.37:g.52598238delC	ENSP00000296302:p.Val1235fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PBX3	5090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	128724472	128724472	+	Silent	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr9:128724472C>T	ENST00000373489.5	+	7	1117	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	PBX3_ENST00000373487.4_Silent_p.V388V|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000373483.2_Silent_p.V186V|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000447726.2_Silent_p.V292V	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	367					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V367V(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGTCCCAAGTCGGAGCCAATG	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	65.0	66.0					9																	128724472		2203	4300	6503	SO:0001819	synonymous_variant	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1101C>T	9.37:g.128724472C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	CCDS6865.1																																																																																				0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140431290	140431290	+	Missense_Mutation	SNP	C	C	A	rs558402868		TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr5:140431290C>A	ENST00000306549.3	+	1	312	c.235C>A	c.(235-237)Cgc>Agc	p.R79S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R79S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGCTCCACCGCAAGACGGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		16641	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											63.0	67.0	65.0					5																	140431290		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.235C>A	5.37:g.140431290C>A	ENSP00000307234:p.Arg79Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908351	0.17833	.	.	ENSG00000171815	ENST00000306549	T	0.36520	1.25	5.81	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000178	T	0.22475	0.0542	L	0.35414	1.06	0.26391	N	0.976571	B	0.21071	0.051	B	0.20184	0.028	T	0.25847	-1.0120	10	0.07813	T	0.8	.	7.4335	0.27141	0.0:0.7181:0.1417:0.1402	.	79	Q9Y5F3	PCDB1_HUMAN	S	79	ENSP00000307234:R79S	ENSP00000307234:R79S	R	+	1	0	PCDHB1	140411474	0.000000	0.05858	1.000000	0.80357	0.939000	0.58152	0.261000	0.18442	1.428000	0.47296	0.655000	0.94253	CGC		0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340	
PFDN6	10471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33257668	33257668	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr6:33257668A>G	ENST00000395131.1	+	2	441	c.35A>G	c.(34-36)gAa>gGa	p.E12G	WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_Missense_Mutation_p.E12G|PFDN6_ENST00000374607.1_Missense_Mutation_p.E12G|PFDN6_ENST00000463584.1_Missense_Mutation_p.E12G|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374610.2_Missense_Mutation_p.E12G|RGL2_ENST00000437840.2_5'Flank			O15212	PFD6_HUMAN	prefoldin subunit 6	12					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.E12G(1)		kidney(1)|large_intestine(1)	2						CTACAGGGAGAAGTGGAGAAA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											107.0	102.0	104.0					6																	33257668		2203	4300	6503	SO:0001583	missense	10471			BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.35A>G	6.37:g.33257668A>G	ENSP00000378563:p.Glu12Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000395131.1	37	CCDS4773.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026217	0.75390	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607;ENST00000463584	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.62	5.62	0.85841	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.86651	2.83	0.80722	D	1	P	0.37955	0.612	P	0.45071	0.468	T	0.54689	-0.8256	10	0.52906	T	0.07	.	12.1393	0.53989	1.0:0.0:0.0:0.0	.	12	O15212	PFD6_HUMAN	G	12	ENSP00000378563:E12G;ENSP00000363734:E12G;ENSP00000363738:E12G;ENSP00000363735:E12G;ENSP00000420135:E12G	ENSP00000363734:E12G	E	+	2	0	PFDN6	33365646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.561000	0.73955	2.360000	0.80028	0.519000	0.50382	GAA		0.532	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1		NM_014260	
PLA2G4F	255189	hgsc.bcm.edu;ucsc.edu	37	15	42434287	42434287	+	Silent	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:42434287C>T	ENST00000382396.4	-	20	2531	c.2445G>A	c.(2443-2445)ctG>ctA	p.L815L	PLA2G4F_ENST00000397272.3_Silent_p.L817L			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	815	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGAGGGCCACCAGCCGATAAA	0.592																																																	0													79.0	72.0	75.0					15																	42434287		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2445G>A	15.37:g.42434287C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																				0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1		NM_213600	
PRSS16	10279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27222582	27222582	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr6:27222582G>A	ENST00000230582.3	+	10	1276	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.A164T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	421					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A421T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGTAGCCCAGGCTGTGGCTCA	0.547																																					NSCLC(178;1118 2105 17078 23587 44429)												2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											115.0	107.0	110.0					6																	27222582		2203	4300	6503	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1261G>A	6.37:g.27222582G>A	ENSP00000230582:p.Ala421Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176536	0.78564	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14391	2.51;2.51	4.68	4.68	0.58851	.	0.418049	0.26143	N	0.026091	T	0.20455	0.0492	M	0.79258	2.445	0.37044	D	0.897274	D;D	0.59357	0.985;0.985	P;P	0.61201	0.873;0.885	T	0.05920	-1.0856	10	0.14656	T	0.56	-7.0444	13.307	0.60357	0.0:0.0:1.0:0.0	.	164;421	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	T	164;421	ENSP00000404349:A164T;ENSP00000230582:A421T	ENSP00000230582:A421T	A	+	1	0	PRSS16	27330561	0.971000	0.33674	0.997000	0.53966	0.818000	0.46254	2.912000	0.48782	2.607000	0.88179	0.557000	0.71058	GCT		0.547	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160260314	160260314	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr4:160260314G>A	ENST00000264431.4	+	13	2278	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	620	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.R608H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGCAAAGCCGCTACATCATG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											181.0	164.0	169.0					4																	160260314		1923	4117	6040	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1859G>A	4.37:g.160260314G>A	ENSP00000264431:p.Arg620His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419183	0.96092	.	.	ENSG00000109756	ENST00000264431	T	0.18657	2.2	5.57	5.57	0.84162	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.59595	0.86	T	0.02352	-1.1172	10	0.49607	T	0.09	.	19.5396	0.95268	0.0:0.0:1.0:0.0	.	620	Q9Y4G8	RPGF2_HUMAN	H	620	ENSP00000264431:R620H	ENSP00000264431:R620H	R	+	2	0	RAPGEF2	160479764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.726000	0.98782	2.611000	0.88343	0.591000	0.81541	CGC		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247	
RFPL4B	442247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112671198	112671198	+	Silent	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr6:112671198T>C	ENST00000441065.2	+	3	600	c.288T>C	c.(286-288)gaT>gaC	p.D96D	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	96	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D96D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TTCGGGAGGATGTGACCCTGG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	82.0	84.0					6																	112671198		2203	4300	6503	SO:0001819	synonymous_variant	442247			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.288T>C	6.37:g.112671198T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU91	Silent	SNP	ENST00000441065.2	37	CCDS34515.1																																																																																				0.517	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2		NM_001013734	
RICTOR	253260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38950756	38950756	+	Missense_Mutation	SNP	T	T	C	rs199854036		TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr5:38950756T>C	ENST00000357387.3	-	31	3224	c.3194A>G	c.(3193-3195)aAt>aGt	p.N1065S	RICTOR_ENST00000296782.5_Missense_Mutation_p.N1065S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.N1065S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTATCTTCATTGATATCAAG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											102.0	110.0	107.0					5																	38950756		2202	4298	6500	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3194A>G	5.37:g.38950756T>C	ENSP00000349959:p.Asn1065Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	4.449	0.083163	0.08533	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.40476	1.03;1.03	5.86	-0.502	0.12004	.	0.607868	0.18659	N	0.134780	T	0.17789	0.0427	N	0.08118	0	0.20975	N	0.999818	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17868	-1.0355	10	0.23302	T	0.38	-12.4883	6.689	0.23161	0.0:0.378:0.1712:0.4508	.	1065;1065	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1065	ENSP00000349959:N1065S;ENSP00000296782:N1065S	ENSP00000296782:N1065S	N	-	2	0	RICTOR	38986513	0.036000	0.19791	0.977000	0.42913	0.829000	0.46940	0.102000	0.15272	-0.022000	0.13986	-0.280000	0.10049	AAT		0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756	
SPON2	10417	hgsc.bcm.edu;ucsc.edu	37	4	1161269	1161270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr4:1161269_1161270insT	ENST00000290902.5	-	6	1318_1319	c.986_987insA	c.(985-987)aacfs	p.N329fs	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Frame_Shift_Ins_p.N329fs	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	329	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTTAGACGCAGTTATCAGGGAC	0.693											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	10417			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.987dupA	4.37:g.1161271_1161271dupT	ENSP00000290902:p.Asn329fs	Somatic	593	WXS	Illumina HiSeq	Phase_I	D3DVN9|Q4W5N4|Q9ULW1	Frame_Shift_Ins	INS	ENST00000290902.5	37	CCDS3347.1																																																																																				0.693	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			
SPRYD4	283377	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56863103	56863103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr12:56863103G>A	ENST00000338146.5	+	2	441	c.366G>A	c.(364-366)tgG>tgA	p.W122*	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	122	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.W122*(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATCGTTCCTGGGTGTTCACCT	0.567																																																	1	Substitution - Nonsense(1)	kidney(1)											160.0	149.0	152.0					12																	56863103		2203	4300	6503	SO:0001587	stop_gained	283377			AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.366G>A	12.37:g.56863103G>A	ENSP00000338034:p.Trp122*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7A5	Nonsense_Mutation	SNP	ENST00000338146.5	37	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	G	37	6.239936	0.97403	.	.	ENSG00000176422	ENST00000338146;ENST00000543121	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4528	18.4593	0.90732	0.0:0.0:1.0:0.0	.	.	.	.	X	122;44	.	ENSP00000338034:W122X	W	+	3	0	SPRYD4	55149370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.631000	0.90991	2.735000	0.93741	0.561000	0.74099	TGG		0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_207344	
SRP68	6730	broad.mit.edu;hgsc.bcm.edu	37	17	74041394	74041394	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:74041394G>T	ENST00000307877.2	-	12	1534	c.1373C>A	c.(1372-1374)aCt>aAt	p.T458N	SRP68_ENST00000539137.1_Missense_Mutation_p.T420N|SRP68_ENST00000355113.5_Missense_Mutation_p.T357N|SRP68_ENST00000602720.1_Missense_Mutation_p.T119N|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	458					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.T458N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAACACCAGAGTCTTGAGGCC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											97.0	87.0	90.0					17																	74041394		2203	4298	6501	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1373C>A	17.37:g.74041394G>T	ENSP00000312066:p.Thr458Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873739	0.72180	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.55	5.55	0.83447	.	0.042765	0.85682	D	0.000000	T	0.61211	0.2329	M	0.68952	2.095	0.80722	D	1	P;P	0.45827	0.867;0.744	B;B	0.44044	0.439;0.439	T	0.57470	-0.7806	9	0.18276	T	0.48	-14.5044	19.8667	0.96806	0.0:0.0:1.0:0.0	.	420;458	G3V1U4;Q9UHB9	.;SRP68_HUMAN	N	198;420;119;458;427;357	.	ENSP00000307756:T427N	T	-	2	0	SRP68	71552989	1.000000	0.71417	0.866000	0.34008	0.469000	0.32828	9.361000	0.97122	2.773000	0.95371	0.655000	0.94253	ACT		0.488	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230	
THNSL1	79896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	25312229	25312229	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr10:25312229A>G	ENST00000524413.1	+	3	424	c.77A>G	c.(76-78)gAt>gGt	p.D26G	THNSL1_ENST00000376356.4_Missense_Mutation_p.D26G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	26						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D26G(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GTTAAAACGGATAAACATGCA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											92.0	94.0	93.0					10																	25312229		2203	4300	6503	SO:0001583	missense	79896			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.77A>G	10.37:g.25312229A>G	ENSP00000434887:p.Asp26Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169087	0.38315	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.08546	3.08;3.08	5.87	3.54	0.40534	.	1.362150	0.04673	N	0.411072	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.37606	T	0.19	-18.564	3.6115	0.08062	0.657:0.0:0.1826:0.1603	.	26	Q8IYQ7	THNS1_HUMAN	G	26	ENSP00000434887:D26G;ENSP00000365534:D26G	ENSP00000365534:D26G	D	+	2	0	THNSL1	25352235	0.000000	0.05858	0.001000	0.08648	0.494000	0.33585	-0.025000	0.12413	0.485000	0.27652	0.455000	0.32223	GAT		0.368	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1		NM_024838	
TOMM34	10953	hgsc.bcm.edu;ucsc.edu	37	20	43572209	43572210	+	In_Frame_Ins	INS	-	-	TTA			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr20:43572209_43572210insTTA	ENST00000372813.3	-	6	861_862	c.709_710insTAA	c.(709-711)tat>tTAAat	p.237_237Y>LN	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	237					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CAGGACCAAATAGCAGAGTGCT	0.5																																																	0																																										SO:0001652	inframe_insertion	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.709_710insTAA	20.37:g.43572209_43572210insTTA	ENSP00000361900:p.Tyr237delinsLeuAsn	Somatic		WXS	Illumina HiSeq	Phase_I	Q53GH9|Q6IBN7|Q9NTZ3	In_Frame_Ins	INS	ENST00000372813.3	37	CCDS13340.1																																																																																				0.500	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3		NM_006809	
TRIM55	84675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67064733	67064733	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr8:67064733A>C	ENST00000315962.4	+	8	1480	c.1107A>C	c.(1105-1107)gaA>gaC	p.E369D	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.E369D|TRIM55_ENST00000353317.5_Missense_Mutation_p.E369D	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	369					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E369D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCCAGGAGAAGATGAAAACC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											69.0	72.0	71.0					8																	67064733		2203	4300	6503	SO:0001583	missense	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1107A>C	8.37:g.67064733A>C	ENSP00000323913:p.Glu369Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312273	0.23908	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.31247	1.5;1.51;1.5	5.92	0.987	0.19790	.	0.378995	0.31624	N	0.007339	T	0.15998	0.0385	L	0.28115	0.83	0.80722	D	1	B;B;B	0.34329	0.0;0.321;0.449	B;B;B	0.30855	0.002;0.092;0.121	T	0.05386	-1.0888	10	0.35671	T	0.21	.	5.7094	0.17927	0.6572:0.1385:0.2043:0.0	.	369;369;369	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	D	369	ENSP00000323913:E369D;ENSP00000297348:E369D;ENSP00000276573:E369D	ENSP00000276573:E369D	E	+	3	2	TRIM55	67227287	0.998000	0.40836	0.945000	0.38365	0.005000	0.04900	0.334000	0.19787	0.483000	0.27608	-0.320000	0.08662	GAA		0.517	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1		NM_184085	
TRPV1	7442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3486632	3486632	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:3486632C>T	ENST00000571088.1	-	9	1689	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G	TRPV1_ENST00000399756.4_Splice_Site_p.G492G|SHPK_ENST00000572705.1_Splice_Site_p.G492G|TRPV1_ENST00000576351.1_Splice_Site_p.G482G|TRPV1_ENST00000174621.6_Splice_Site_p.G490G|TRPV1_ENST00000310522.5_Splice_Site_p.G432G|TRPV1_ENST00000399759.3_Splice_Site_p.G492G|TRPV1_ENST00000425167.2_Splice_Site_p.G503G	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	492					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.G503G(1)|p.G492G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAACGCTTACCCCTCGGAAAA	0.433																																					Melanoma(38;962 1762 15789)												2	Substitution - coding silent(2)	kidney(2)											55.0	53.0	53.0					17																	3486632		1966	4149	6115	SO:0001630	splice_region_variant	7442			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1476+1G>A	17.37:g.3486632C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																				0.433	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1		NM_018727	Silent
TSNARE1	203062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	143310906	143310906	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr8:143310906G>A	ENST00000307180.3	-	13	1598	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	TSNARE1_ENST00000520166.1_Missense_Mutation_p.S494L|TSNARE1_ENST00000524325.1_Missense_Mutation_p.S493L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	494					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.S494L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GACTCCAGCTGATAGGAAGCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											201.0	138.0	159.0					8																	143310906		2203	4300	6503	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1481C>T	8.37:g.143310906G>A	ENSP00000303437:p.Ser494Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194286	0.00302	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.08807	3.05;3.06;3.05	2.42	1.49	0.22878	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.47249	-0.9132	9	0.11485	T	0.65	.	7.7417	0.28845	0.1459:0.0:0.8541:0.0	.	493;494;495	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	L	493;494;494	ENSP00000428763:S493L;ENSP00000303437:S494L;ENSP00000427770:S494L	ENSP00000303437:S494L	S	-	2	0	TSNARE1	143308813	0.000000	0.05858	0.024000	0.17045	0.335000	0.28730	0.088000	0.14979	0.296000	0.22592	0.457000	0.33378	TCA		0.537	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_145003	
UNC45A	55898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91478784	91478784	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:91478784T>A	ENST00000418476.2	+	2	102	c.62T>A	c.(61-63)gTg>gAg	p.V21E	AC068831.3_ENST00000438890.1_RNA|UNC45A_ENST00000553671.2_3'UTR|AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Missense_Mutation_p.V6E|HDDC3_ENST00000394272.3_5'Flank	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	21					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.V21E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCAGCTCAGTGGAGCAGCTG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											47.0	56.0	53.0					15																	91478784		2197	4297	6494	SO:0001583	missense	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.62T>A	15.37:g.91478784T>A	ENSP00000407487:p.Val21Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412490	0.42817	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.74632	-0.86;-0.86	5.17	-1.95	0.07548	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	1.301730	0.04622	N	0.402191	T	0.70316	0.3210	L	0.41079	1.255	0.31465	N	0.669026	B;B;B;B	0.26635	0.044;0.155;0.006;0.006	B;B;B;B	0.39027	0.288;0.206;0.075;0.075	T	0.65471	-0.6160	10	0.87932	D	0	-5.1684	6.2524	0.20854	0.0:0.522:0.1946:0.2834	.	21;6;21;6	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	E	6;21	ENSP00000377816:V6E;ENSP00000407487:V21E	ENSP00000377816:V6E	V	+	2	0	UNC45A	89279788	0.177000	0.23109	0.617000	0.29091	0.822000	0.46500	0.009000	0.13219	-0.269000	0.09298	0.454000	0.30748	GTG		0.672	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2		NM_018671	
VAV2	7410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136674238	136674238	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr9:136674238T>A	ENST00000371850.3	-	7	621	c.590A>T	c.(589-591)gAc>gTc	p.D197V	VAV2_ENST00000371851.1_Missense_Mutation_p.D192V|VAV2_ENST00000406606.3_Missense_Mutation_p.D192V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	197					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D197V(1)|p.D192V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTCCTCTTGTCATCTTCAGT	0.617																																																	2	Substitution - Missense(2)	kidney(2)											134.0	107.0	116.0					9																	136674238		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.590A>T	9.37:g.136674238T>A	ENSP00000360916:p.Asp197Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385782	0.61956	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.27402	1.67;1.67;1.67	4.64	4.64	0.57946	Dbl homology (DH) domain (2);Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.77004	0.708;0.989	T	0.50742	-0.8792	10	0.87932	D	0	.	12.0202	0.53340	0.0:0.0:0.0:1.0	.	197;192	P52735;P52735-3	VAV2_HUMAN;.	V	197;192;192;192	ENSP00000360916:D197V;ENSP00000360917:D192V;ENSP00000385362:D192V	ENSP00000317258:D192V	D	-	2	0	VAV2	135664059	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	7.305000	0.78891	1.740000	0.51718	0.379000	0.24179	GAC		0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188202	10188212	+	Frame_Shift_Del	DEL	CCTTTGGCTCT	CCTTTGGCTCT	-	rs5030830		TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	CCTTTGGCTCT	CCTTTGGCTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr3:10188202_10188212delCCTTTGGCTCT	ENST00000256474.2	+	2	1185_1195	c.345_355delCCTTTGGCTCT	c.(343-357)cacctttggctcttcfs	p.LWLF116fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		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.W117*(7)|p.L118P(5)|p.W117R(5)|p.W117C(4)|p.W117fs*42(3)|p.?(3)|p.L116fs*43(3)|p.W117fs*14(2)|p.W117L(2)|p.W117G(2)|p.L116L(1)|p.L118fs*14(1)|p.W117fs*40(1)|p.L116V(1)|p.H115fs*15(1)|p.L116fs*16(1)|p.F119fs*11(1)|p.L118_G123>P(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.L118H(1)|p.W117fs*1(1)|p.W117S(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)		CGATAGGTCACCTTTGGCTCTTCAGAGATGC	0.521		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"""	49	Substitution - Missense(21)|Deletion - Frameshift(14)|Substitution - Nonsense(7)|Unknown(3)|Insertion - Frameshift(2)|Complex - deletion inframe(1)|Substitution - coding silent(1)	kidney(44)|large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	GRCh37	CI983254|CI994275|CM023998|CM056725|CM941373|CM951285|CM951286|CM961424|CM961425|CM961426|HM971481	VHL	I|M	rs5030830																																			SO:0001589	frameshift_variant	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.345_355delCCTTTGGCTCT	3.37:g.10188202_10188212delCCTTTGGCTCT	ENSP00000256474:p.Leu116fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.521	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
XYLT2	64132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48432223	48432223	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:48432223C>A	ENST00000017003.2	+	4	862	c.813C>A	c.(811-813)gaC>gaA	p.D271E	XYLT2_ENST00000507602.1_Missense_Mutation_p.D271E	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	271					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.D271E(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCGTTCCGACTACCTGCACC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											46.0	45.0	45.0					17																	48432223		2203	4299	6502	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.813C>A	17.37:g.48432223C>A	ENSP00000017003:p.Asp271Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672801	0.29693	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.10382	2.88;2.88	4.62	4.62	0.57501	.	0.223450	0.46145	D	0.000308	T	0.09247	0.0228	N	0.13168	0.305	0.25803	N	0.98449	B	0.16802	0.019	B	0.29176	0.099	T	0.27088	-1.0084	10	0.32370	T	0.25	-14.9673	17.6497	0.88159	0.0:1.0:0.0:0.0	.	271	Q9H1B5	XYLT2_HUMAN	E	271	ENSP00000017003:D271E;ENSP00000426501:D271E	ENSP00000017003:D271E	D	+	3	2	XYLT2	45787222	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.152000	0.50677	2.403000	0.81681	0.313000	0.20887	GAC		0.627	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1		NM_022167	
ZBTB10	65986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	81411971	81411971	+	Silent	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr8:81411971T>C	ENST00000430430.1	+	3	1994	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	ZBTB10_ENST00000426744.2_Silent_p.N405N|ZBTB10_ENST00000455036.3_Silent_p.N405N|ZBTB10_ENST00000379091.4_Silent_p.N113N	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	405	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N405N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCAAAACAATACTACCCACT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											115.0	111.0	112.0					8																	81411971		1824	4094	5918	SO:0001819	synonymous_variant	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1215T>C	8.37:g.81411971T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	CCDS47880.1																																																																																				0.388	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2		NM_023929	
ZBTB38	253461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141163046	141163046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr3:141163046C>T	ENST00000514251.1	+	4	2095	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*	ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.Q606*|ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.Q607*					zinc finger and BTB domain containing 38									p.Q606*(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTATGTTGTTCAGAATCCACA	0.433																																																	1	Substitution - Nonsense(1)	kidney(1)											80.0	78.0	79.0					3																	141163046		1967	4169	6136	SO:0001587	stop_gained	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1816C>T	3.37:g.141163046C>T	ENSP00000426387:p.Gln606*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690417	0.96793	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	.	.	.	5.49	4.58	0.56647	.	0.294454	0.32028	N	0.006693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8442	14.0669	0.64837	0.1499:0.8501:0.0:0.0	.	.	.	.	X	606;606;606;607	.	.	Q	+	1	0	ZBTB38	142645736	0.993000	0.37304	0.846000	0.33378	0.965000	0.64279	1.643000	0.37217	2.574000	0.86865	0.650000	0.86243	CAG		0.433	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																																	0																																												0																															15.37:g.45848224G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000557965.1	37																																																																																					0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			
COL5A3	50509	broad.mit.edu	37	19	10073521	10073521	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr19:10073521A>T	ENST00000264828.3	-	65	4910	c.4825T>A	c.(4825-4827)Tat>Aat	p.Y1609N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1609	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.Y1609N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AATGTGCTATACCAGCCTCCA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											61.0	54.0	56.0					19																	10073521		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4825T>A	19.37:g.10073521A>T	ENSP00000264828:p.Tyr1609Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079471	0.55753	.	.	ENSG00000080573	ENST00000264828	T	0.76709	-1.04	4.62	4.62	0.57501	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	D	0.000007	D	0.88629	0.6488	M	0.89968	3.075	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	D	0.88345	0.2977	10	0.31617	T	0.26	.	12.0062	0.53261	1.0:0.0:0.0:0.0	.	1609	P25940	CO5A3_HUMAN	N	1609	ENSP00000264828:Y1609N	ENSP00000264828:Y1609N	Y	-	1	0	COL5A3	9934521	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.863000	0.92288	1.944000	0.56390	0.172000	0.16884	TAT		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719	
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr1:155887399T>G	ENST00000368321.3	-	11	1354	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q444P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.						RNA binding (GO:0003723)	p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											10.0	13.0	12.0					1																	155887399		2180	4260	6440	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1331A>C	1.37:g.155887399T>G	ENSP00000357304:p.Gln444Pro	Somatic		WXS	Illumina GAIIx	Phase_I	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164445	0.38217	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.27402	1.67;1.67	5.49	4.36	0.52297	.	0.380168	0.30464	N	0.009568	T	0.18215	0.0437	N	0.19112	0.55	0.44789	D	0.997794	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.05209	-1.0899	10	0.06494	T	0.89	-0.2991	11.4897	0.50373	0.0:0.0:0.1502:0.8498	.	444;444	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	444	ENSP00000357304:Q444P;ENSP00000357303:Q444P	ENSP00000357303:Q444P	Q	-	2	0	KIAA0907	154154023	0.989000	0.36119	0.998000	0.56505	0.984000	0.73092	0.594000	0.24014	0.999000	0.39023	0.533000	0.62120	CAG		0.562	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1		NM_014949	
MUC6	4588	broad.mit.edu	37	11	1025856	1025856	+	Silent	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr11:1025856G>T	ENST00000421673.2	-	22	2798	c.2748C>A	c.(2746-2748)atC>atA	p.I916I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	916	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.I916I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCCCACAGATGACGTTCT	0.647																																																	2	Substitution - coding silent(2)	kidney(2)											51.0	58.0	55.0					11																	1025856		2100	4203	6303	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2748C>A	11.37:g.1025856G>T		Somatic		WXS	Illumina GAIIx	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.647	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
ZNF23	7571	broad.mit.edu	37	16	71487199	71487199	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr16:71487199A>T	ENST00000393539.2	-	5	902	c.89T>A	c.(88-90)cTg>cAg	p.L30Q	ZNF23_ENST00000358700.2_Missense_Mutation_p.L30Q|ZNF23_ENST00000539742.1_Intron|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000428724.2_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_Missense_Mutation_p.L30Q|ZNF23_ENST00000357254.4_Missense_Mutation_p.L30Q|ZNF23_ENST00000417828.1_Missense_Mutation_p.L30Q	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.L30Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGAGCCCCCCAGCTCACTTCC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											36.0	31.0	33.0					16																	71487199		2198	4300	6498	SO:0001583	missense	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.89T>A	16.37:g.71487199A>T	ENSP00000377171:p.Leu30Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250277	0.22880	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828	T;T;T	0.29655	1.56;1.56;1.56	4.75	4.75	0.60458	Krueppel-associated box (2);	0.294345	0.18557	N	0.137733	T	0.34978	0.0916	L	0.28014	0.82	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.94	T	0.05649	-1.0872	10	0.21014	T	0.42	-2.7829	7.5754	0.27933	0.9024:0.0:0.0976:0.0	.	30;30	B3KR55;P17027	.;ZNF23_HUMAN	Q	30	ENSP00000377171:L30Q;ENSP00000349796:L30Q;ENSP00000395712:L30Q	ENSP00000349796:L30Q	L	-	2	0	ZNF23	70044700	0.095000	0.21747	0.992000	0.48379	0.419000	0.31324	1.871000	0.39539	2.089000	0.63090	0.482000	0.46254	CTG		0.507	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23		NM_145911	
