#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
ABCA5	23461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67298930	67298930	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:67298930T>G	ENST00000392676.3	-	8	1112	c.1048A>C	c.(1048-1050)Agt>Cgt	p.S350R	ABCA5_ENST00000392677.2_Missense_Mutation_p.S350R|ABCA5_ENST00000588877.1_Missense_Mutation_p.S350R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	350					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S350R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTGGGAAAACTTTCTATGAGG	0.343																																																	1	Substitution - Missense(1)	kidney(1)											80.0	74.0	76.0					17																	67298930		2203	4299	6502	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1048A>C	17.37:g.67298930T>G	ENSP00000376443:p.Ser350Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522125	0.44866	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88431	-2.38;-2.38	5.08	3.8	0.43715	.	0.279906	0.29940	N	0.010809	T	0.78685	0.4322	L	0.29908	0.895	0.30556	N	0.764966	B;B	0.28470	0.056;0.213	B;B	0.30105	0.099;0.111	T	0.69705	-0.5073	9	.	.	.	.	3.3532	0.07160	0.0:0.3572:0.0:0.6428	.	350;350	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	350	ENSP00000376444:S350R;ENSP00000376443:S350R	.	S	-	1	0	ABCA5	64810525	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.241000	0.51376	2.021000	0.59480	0.533000	0.62120	AGT		0.343	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1		NM_018672	
ACSS2	55902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33501198	33501198	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:33501198A>G	ENST00000360596.2	+	4	680	c.469A>G	c.(469-471)Att>Gtt	p.I157V	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.I107V|ACSS2_ENST00000253382.5_Missense_Mutation_p.I157V	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	157					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.I157V(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTGCAGGCATTCAGAAGGG	0.552																																																	2	Substitution - Missense(2)	kidney(2)											121.0	120.0	120.0					20																	33501198		2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.469A>G	20.37:g.33501198A>G	ENSP00000353804:p.Ile157Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	1.268	-0.613947	0.03690	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.09	1.5	0.22942	AMP-dependent synthetase/ligase (1);	0.435249	0.27349	N	0.019774	T	0.10252	0.0251	N	0.01197	-0.965	0.42041	D	0.991078	B;B	0.12630	0.001;0.006	B;B	0.20184	0.009;0.028	T	0.35025	-0.9805	10	0.02654	T	1	-6.5173	8.5752	0.33595	0.6155:0.0:0.3845:0.0	.	157;157	Q5QPH3;Q9NR19	.;ACSA_HUMAN	V	107;107;157;157;175;170;157	ENSP00000417783:I107V;ENSP00000337190:I107V;ENSP00000353804:I157V;ENSP00000418812:I175V;ENSP00000419925:I170V;ENSP00000253382:I157V	ENSP00000253382:I157V	I	+	1	0	ACSS2	32964859	0.719000	0.27986	0.987000	0.45799	0.999000	0.98932	1.301000	0.33447	0.062000	0.16340	0.533000	0.62120	ATT		0.552	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3		NM_018677	
ACTR5	79913	broad.mit.edu;ucsc.edu	37	20	37396132	37396132	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:37396132C>A	ENST00000243903.4	+	8	1496	c.1459C>A	c.(1459-1461)Ctg>Atg	p.L487M		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	487					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.L487M(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TCAGGAAATGCTGGTTCAGAA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											147.0	126.0	133.0					20																	37396132		2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1459C>A	20.37:g.37396132C>A	ENSP00000243903:p.Leu487Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990780	0.54041	.	.	ENSG00000101442	ENST00000243903	D	0.97976	-4.64	5.81	2.71	0.32032	.	0.068572	0.64402	N	0.000011	D	0.97911	0.9313	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96961	0.9701	10	0.87932	D	0	-16.0009	8.034	0.30482	0.1277:0.7298:0.0:0.1425	.	487	Q9H9F9	ARP5_HUMAN	M	487	ENSP00000243903:L487M	ENSP00000243903:L487M	L	+	1	2	ACTR5	36829546	0.988000	0.35896	0.402000	0.26371	0.573000	0.36030	2.771000	0.47670	0.324000	0.23333	-0.345000	0.07892	CTG		0.448	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2		NM_024855	
ADAM22	53616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87795203	87795203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:87795203C>A	ENST00000265727.7	+	24	2212	c.2133C>A	c.(2131-2133)tgC>tgA	p.C711*	ADAM22_ENST00000315984.7_Nonsense_Mutation_p.C711*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.C711*|ADAM22_ENST00000398204.4_Nonsense_Mutation_p.C711*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.C711*			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	711	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C711*(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCTGATTGCAACACTTACT	0.388																																																	3	Substitution - Nonsense(3)	kidney(3)											144.0	134.0	137.0					7																	87795203		1932	4139	6071	SO:0001587	stop_gained	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2133C>A	7.37:g.87795203C>A	ENSP00000265727:p.Cys711*	Somatic		WXS	Illumina HiSeq	Phase_I	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Nonsense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.671346|8.671346	0.98908|0.98908	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930|ENST00000413139	.|.	.|.	.|.	5.88|5.88	2.03|2.03	0.26663|0.26663	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51126	.|0.1656	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58808	.|-0.7571	.|3	0.02654|.	T|.	1|.	.|.	10.5183|10.5183	0.44903|0.44903	0.0:0.7239:0.0:0.2761|0.0:0.7239:0.0:0.2761	.|.	.|.	.|.	.|.	X|K	711;711;711;711;711;678;69|11	.|.	ENSP00000265727:C711X|.	C|Q	+|+	3|1	2|0	ADAM22|ADAM22	87633139|87633139	0.993000|0.993000	0.37304|0.37304	0.993000|0.993000	0.49108|0.49108	0.981000|0.981000	0.71138|0.71138	0.368000|0.368000	0.20399|0.20399	0.393000|0.393000	0.25203|0.25203	0.650000|0.650000	0.86243|0.86243	TGC|CAA		0.388	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723	
IGHA1	3493	broad.mit.edu	37	14	106173793	106173793	+	RNA	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:106173793C>G	ENST00000390547.2	-	0	773				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CCAGCACATCCTTGGGGCTGA	0.692																																																	0													34.0	48.0	43.0					14																	106173793		2135	4251	6386			8755			J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173793C>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000390547.2	37																																																																																					0.692	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1		NG_001019	
ADAMTS8	11095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130286146	130286146	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:130286146C>T	ENST00000257359.6	-	4	1882	c.1176G>A	c.(1174-1176)atG>atA	p.M392I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M421I(1)|p.V392V(1)|p.M392I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACAGCGGTGCCATCACGTGGT	0.672																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)											31.0	40.0	37.0					11																	130286146		2142	4221	6363	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1176G>A	11.37:g.130286146C>T	ENSP00000257359:p.Met392Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295369	0.95574	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.96265	-3.96	5.25	5.25	0.73442	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	19.2117	0.93758	0.0:1.0:0.0:0.0	.	392	Q9UP79	ATS8_HUMAN	I	392;421	ENSP00000257359:M392I	ENSP00000257359:M392I	M	-	3	0	ADAMTS8	129791356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.445000	0.80570	2.612000	0.88384	0.655000	0.94253	ATG		0.672	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1		NM_007037	
ADARB2	105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	1229304	1229304	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:1229304delG	ENST00000381312.1	-	10	2374	c.2049delC	c.(2047-2049)agcfs	p.S683fs	ADARB2_ENST00000381305.1_Frame_Shift_Del_p.S85fs|ADARB2_ENST00000381310.3_Frame_Shift_Del_p.S192fs	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	683	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGTCCGTGTGCTCAGCTGCG	0.567																																																	0													55.0	55.0	55.0					10																	1229304		2202	4300	6502	SO:0001589	frameshift_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2049delC	10.37:g.1229304delG	ENSP00000370713:p.Ser683fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	ENST00000381312.1	37	CCDS7058.1																																																																																				0.567	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1		NM_018702	
AGAP6	414189	broad.mit.edu	37	10	51769940	51769940	+	Silent	SNP	T	T	C	rs200598585	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:51769940T>C	ENST00000374056.4	+	7	2384	c.1986T>C	c.(1984-1986)tgT>tgC	p.C662C	AGAP6_ENST00000412531.3_Silent_p.C685C			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	662					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.C685C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCGACGAGTGTGTGTAGTATC	0.498													.|||	69	0.013778	0.0371	0.0101	5008	,	,		19795	0.0		0.0089	False		,,,				2504	0.0041																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1986T>C	10.37:g.51769940T>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000374056.4	37																																																																																					0.498	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001077665	
ARHGAP17	55114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24942355	24942355	+	Silent	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:24942355G>C	ENST00000289968.6	-	19	2334	c.2265C>G	c.(2263-2265)ccC>ccG	p.P755P	ARHGAP17_ENST00000303665.5_Silent_p.P677P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	755	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.P677P(1)|p.P755P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTGGAGTCTGGGGAGGGGTGT	0.617																																																	2	Substitution - coding silent(2)	kidney(2)											90.0	107.0	101.0					16																	24942355		2197	4300	6497	SO:0001819	synonymous_variant	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2265C>G	16.37:g.24942355G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																				0.617	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3		NM_018054	
ASS1	445	broad.mit.edu;hgsc.bcm.edu	37	9	133333871	133333871	+	Silent	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:133333871C>A	ENST00000372394.1	+	5	739	c.258C>A	c.(256-258)cgC>cgA	p.R86R	ASS1_ENST00000352480.5_Silent_p.R86R|ASS1_ENST00000372393.3_Silent_p.R86R			P00966	ASSY_HUMAN	argininosuccinate synthase 1	86			R -> C (in CTLN1). {ECO:0000269|PubMed:1943692}.|R -> H (in CTLN1). {ECO:0000269|PubMed:12815590}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.R86R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATGAGGACCGCTACCTCCTGG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	55.0	56.0					9																	133333871		2203	4300	6503	SO:0001819	synonymous_variant	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.258C>A	9.37:g.133333871C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	CCDS6933.1																																																																																				0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1		NM_000050	
ATP13A2	23400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17322948	17322948	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:17322948G>T	ENST00000326735.8	-	13	1272	c.1239C>A	c.(1237-1239)caC>caA	p.H413Q	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.H408Q|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000341676.5_Missense_Mutation_p.H408Q			Q9NQ11	AT132_HUMAN	ATPase type 13A2	413					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.H413Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGGCCGGGGGTGCAAGATGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											58.0	65.0	63.0					1																	17322948		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1239C>A	1.37:g.17322948G>T	ENSP00000327214:p.His413Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504299	0.64410	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.69	-5.71	0.02413	ATPase, P-type, ATPase-associated domain (1);	0.169299	0.53938	D	0.000057	D	0.89712	0.6794	L	0.37850	1.14	0.37568	D	0.919328	B;P;D;D	0.76494	0.199;0.661;0.999;0.997	B;B;D;D	0.71184	0.285;0.12;0.972;0.926	D	0.87919	0.2702	10	0.87932	D	0	-14.2214	18.5093	0.90910	0.1726:0.0:0.8274:0.0	.	126;408;408;413	Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;AT132_HUMAN	Q	413;408;408;127	ENSP00000327214:H413Q;ENSP00000341115:H408Q;ENSP00000413307:H408Q;ENSP00000424393:H127Q	ENSP00000327214:H413Q	H	-	3	2	ATP13A2	17195535	0.581000	0.26741	0.938000	0.37757	0.976000	0.68499	-0.299000	0.08254	-1.257000	0.02475	-0.459000	0.05422	CAC		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089	
ATP2B4	493	hgsc.bcm.edu;ucsc.edu	37	1	203652386	203652387	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:203652386_203652387delGT	ENST00000357681.5	+	2	1176_1177	c.53_54delGT	c.(52-54)cgtfs	p.R18fs	ATP2B4_ENST00000341360.2_Frame_Shift_Del_p.R18fs|ATP2B4_ENST00000391954.2_Frame_Shift_Del_p.R18fs|ATP2B4_ENST00000367219.3_Frame_Shift_Del_p.R18fs|ATP2B4_ENST00000367218.3_Frame_Shift_Del_p.R18fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	18					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCGAGAGCCGTGAAGGGGACT	0.53																																																	0																																										SO:0001589	frameshift_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.53_54delGT	1.37:g.203652386_203652387delGT	ENSP00000350310:p.Arg18fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Del	DEL	ENST00000357681.5	37	CCDS1440.1																																																																																				0.530	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396	
BRIP1	83990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	59886033	59886033	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:59886033G>A	ENST00000259008.2	-	7	980	c.713C>T	c.(712-714)aCa>aTa	p.T238I	BRIP1_ENST00000577598.1_Missense_Mutation_p.T238I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	238	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T238I(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GGATTTCCCTGTATGATCCTT	0.443			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	2	Substitution - Missense(2)	kidney(2)											103.0	93.0	97.0					17																	59886033		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.713C>T	17.37:g.59886033G>A	ENSP00000259008:p.Thr238Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	8.281	0.815534	0.16607	.	.	ENSG00000136492	ENST00000259008	T	0.74209	-0.82	5.29	4.31	0.51392	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.184593	0.47455	D	0.000227	T	0.51601	0.1684	N	0.11560	0.145	0.22066	N	0.999386	P	0.38110	0.618	B	0.28553	0.091	T	0.40098	-0.9581	9	.	.	.	-3.5003	15.2369	0.73438	0.0:0.853:0.147:0.0	.	238	Q9BX63	FANCJ_HUMAN	I	238	ENSP00000259008:T238I	.	T	-	2	0	BRIP1	57240815	0.578000	0.26717	0.554000	0.28268	0.376000	0.30014	1.553000	0.36255	1.359000	0.45940	-0.367000	0.07326	ACA		0.443	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043	
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65960482	65960482	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:65960482G>C	ENST00000321892.4	+	27	8855	c.8794G>C	c.(8794-8796)Gat>Cat	p.D2932H	BPTF_ENST00000424123.3_Missense_Mutation_p.D2650H|BPTF_ENST00000306378.6_Missense_Mutation_p.D2806H|BPTF_ENST00000335221.5_Missense_Mutation_p.D2789H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2932					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D2806H(1)|p.D2789H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACAGAGAAGGATTATGAGGG	0.478																																																	2	Substitution - Missense(2)	kidney(2)											101.0	91.0	94.0					17																	65960482		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8794G>C	17.37:g.65960482G>C	ENSP00000315454:p.Asp2932His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	15.43	2.832111	0.50845	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.18657	2.2;2.2;2.2	5.91	5.91	0.95273	.	.	.	.	.	T	0.39911	0.1096	L	0.33093	0.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	T	0.10019	-1.0648	9	0.72032	D	0.01	-14.0768	20.3011	0.98612	0.0:0.0:1.0:0.0	.	137;610;2806;2789	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	H	2806;2789;2932;137	ENSP00000307208:D2806H;ENSP00000334351:D2789H;ENSP00000315454:D2932H	ENSP00000307208:D2806H	D	+	1	0	BPTF	63390944	1.000000	0.71417	0.890000	0.34922	0.998000	0.95712	9.807000	0.99171	2.809000	0.96659	0.555000	0.69702	GAT		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459	
MIS18BP1	55320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45687640	45687640	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:45687640G>A	ENST00000310806.4	-	12	3145	c.2687C>T	c.(2686-2688)cCa>cTa	p.P896L		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	896	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P896L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTGTGCTTTGGAAGAGATGC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											61.0	59.0	60.0					14																	45687640		2203	4300	6503	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2687C>T	14.37:g.45687640G>A	ENSP00000309790:p.Pro896Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378468	0.82682	.	.	ENSG00000129534	ENST00000310806	T	0.46451	0.87	5.37	5.37	0.77165	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.76002	2.32	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.68179	-0.5477	10	0.87932	D	0	-11.557	16.5997	0.84810	0.0:0.0:1.0:0.0	.	896	Q6P0N0	M18BP_HUMAN	L	896	ENSP00000309790:P896L	ENSP00000309790:P896L	P	-	2	0	MIS18BP1	44757390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.449000	0.73473	2.540000	0.85666	0.591000	0.81541	CCA		0.393	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			
REC114	283677	hgsc.bcm.edu	37	15	73852255	73852255	+	Nonstop_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:73852255T>A	ENST00000331090.6	+	6	827	c.799T>A	c.(799-801)Taa>Aaa	p.*267K	C15orf60_ENST00000560581.1_Nonstop_Mutation_p.*239K	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		0					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TTTGAGAAATTAATGCTCTAT	0.348																																																	0													59.0	61.0	61.0					15																	73852255		1802	4065	5867	SO:0001578	stop_lost	283677																														ENST00000331090.6:c.799T>A	15.37:g.73852255T>A	ENSP00000328423:p.*267Lysext*8	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	T	2.323	-0.355084	0.05138	.	.	ENSG00000183324	ENST00000331090	.	.	.	5.42	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8655	0.41140	0.0:0.0:0.3321:0.6679	.	.	.	.	K	267	.	.	X	+	1	0	C15orf60	71639308	0.005000	0.15991	0.022000	0.16811	0.073000	0.16967	0.376000	0.20535	0.874000	0.35823	0.377000	0.23210	TAA		0.348	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			
C17orf75	64149	broad.mit.edu;ucsc.edu	37	17	30669149	30669149	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:30669149A>G	ENST00000577809.1	-	1	59	c.10T>C	c.(10-12)Tct>Cct	p.S4P	C17orf75_ENST00000225805.4_Missense_Mutation_p.S4P|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	4								p.S4P(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCTGCAAAGAGGGGAGCATT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											24.0	28.0	27.0					17																	30669149		1975	4145	6120	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.10T>C	17.37:g.30669149A>G	ENSP00000464275:p.Ser4Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.558510	0.27827	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.99	4.99	0.66335	.	0.057123	0.64402	D	0.000001	T	0.63570	0.2522	L	0.43152	1.355	0.38276	D	0.942296	D	0.71674	0.998	P	0.60541	0.876	T	0.69621	-0.5096	9	0.87932	D	0	-12.34	10.1357	0.42706	0.8327:0.1673:0.0:0.0	.	4	Q9HAS0	NJMU_HUMAN	P	4	.	ENSP00000225805:S4P	S	-	1	0	C17orf75	27693262	1.000000	0.71417	0.825000	0.32803	0.432000	0.31715	2.837000	0.48191	2.089000	0.63090	0.374000	0.22700	TCT		0.662	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1		NM_022344	
MISP	126353	broad.mit.edu	37	19	757468	757468	+	Silent	SNP	C	C	A	rs375452577		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:757468C>A	ENST00000215582.6	+	2	625	c.522C>A	c.(520-522)ggC>ggA	p.G174G		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	174					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G174G(1)									GGACCCCCGGCCCACCTCGGT	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											17.0	21.0	20.0					19																	757468		2188	4289	6477	SO:0001819	synonymous_variant	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.522C>A	19.37:g.757468C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																				0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2		NM_173481	
GHRL	51738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10326626	10326626	+	IGR	SNP	A	A	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:10326626A>C	ENST00000335542.8	-	0	1425				GHRLOS_ENST00000439539.3_RNA|LINC00852_ENST00000475197.1_RNA|GHRL_ENST00000476283.1_5'Flank|RP11-438J1.1_ENST00000450534.1_Intron|LINC00852_ENST00000538717.1_RNA|GHRLOS_ENST00000605105.1_RNA|GHRLOS_ENST00000605014.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide						actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TAAGGTGGGCATGACCGAGTG	0.532																																																	0													85.0	71.0	75.0					3																	10326626		692	1591	2283	SO:0001628	intergenic_variant	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360		3.37:g.10326626A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	RNA	SNP	ENST00000335542.8	37	CCDS33700.1																																																																																				0.532	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1		NM_016362	
CCDC171	203238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15729739	15729739	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:15729739G>C	ENST00000380701.3	+	16	2320	c.1992G>C	c.(1990-1992)aaG>aaC	p.K664N	CCDC171_ENST00000297641.3_Missense_Mutation_p.K664N	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	664								p.K664N(1)									ACAGACAAAAGAAGGAACTAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											97.0	99.0	98.0					9																	15729739		2203	4299	6502	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1992G>C	9.37:g.15729739G>C	ENSP00000370077:p.Lys664Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608163	0.46527	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.19806	2.12;2.12	5.61	3.76	0.43208	.	0.161262	0.53938	D	0.000055	T	0.28300	0.0699	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.983;0.964;0.976	T	0.02026	-1.1227	10	0.32370	T	0.25	-19.5765	9.7893	0.40695	0.2271:0.0:0.7729:0.0	.	672;664;664	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	N	664	ENSP00000297641:K664N;ENSP00000370077:K664N	ENSP00000297641:K664N	K	+	3	2	C9orf93	15719739	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.823000	0.39062	1.360000	0.45960	0.585000	0.79938	AAG		0.468	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4		NM_173550	
CAT	847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	34482847	34482847	+	Missense_Mutation	SNP	A	A	G	rs148712764		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:34482847A>G	ENST00000241052.4	+	9	1195	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	369					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.N369S(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTGGGACCCAATTATCTTCAT	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											138.0	132.0	134.0					11																	34482847		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1106A>G	11.37:g.34482847A>G	ENSP00000241052:p.Asn369Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	CCDS7891.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	22.2	4.263091	0.80358	.	.	ENSG00000121691	ENST00000241052	D	0.94613	-3.47	4.98	3.85	0.44370	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	H	0.99487	4.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97498	1.0058	10	0.87932	D	0	-33.5207	10.3791	0.44101	0.9226:0.0:0.0774:0.0	.	369	P04040	CATA_HUMAN	S	369	ENSP00000241052:N369S	ENSP00000241052:N369S	N	+	2	0	CAT	34439423	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.339000	0.96797	0.764000	0.33197	0.455000	0.32223	AAT		0.507	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		NM_001752	
CDX1	1044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149562381	149562381	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:149562381C>A	ENST00000231656.8	+	2	578	c.496C>A	c.(496-498)Cgc>Agc	p.R166S		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.R166S(1)		central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGACCACCAACGCCTGGAGCT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											154.0	154.0	154.0					5																	149562381		2203	4300	6503	SO:0001583	missense	1044			U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.496C>A	5.37:g.149562381C>A	ENSP00000231656:p.Arg166Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579634	0.96565	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.96136	-3.92	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.122961	0.56097	D	0.000032	D	0.96935	0.8999	L	0.45470	1.425	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.97056	0.9767	10	0.66056	D	0.02	-13.975	20.2079	0.98282	0.0:1.0:0.0:0.0	.	166	P47902	CDX1_HUMAN	S	166;55	ENSP00000231656:R166S	ENSP00000231656:R166S	R	+	1	0	CDX1	149542574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.910000	0.69931	2.781000	0.95711	0.655000	0.94253	CGC		0.567	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7		NM_001804	
CLCF1	23529	hgsc.bcm.edu;ucsc.edu	37	11	67135087	67135089	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:67135087_67135089delCCA	ENST00000312438.7	-	2	222_224	c.25_27delTGG	c.(25-27)tggdel	p.W9del	CLCF1_ENST00000533438.1_5'UTR|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_5'UTR	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	9					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CTAACATCCCCCACGAGTCCCCT	0.67																																																	0																																										SO:0001651	inframe_deletion	23529			BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.25_27delTGG	11.37:g.67135087_67135089delCCA	ENSP00000309338:p.Trp9del	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNT4|Q6NZA4	In_Frame_Del	DEL	ENST00000312438.7	37	CCDS31617.1																																																																																				0.670	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1		NM_013246	
CLCNKB	1188	hgsc.bcm.edu;ucsc.edu	37	1	16377066	16377067	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:16377066_16377067insA	ENST00000375679.4	+	11	1135_1136	c.1024_1025insA	c.(1024-1026)cccfs	p.P342fs	CLCNKB_ENST00000375667.3_Frame_Shift_Ins_p.P173fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	342					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTACCCACCCAGCGCCGGC	0.624																																																	0																																										SO:0001589	frameshift_variant	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	Exception_encountered	1.37:g.16377066_16377067insA	ENSP00000364831:p.Pro342fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Ins	INS	ENST00000375679.4	37	CCDS168.1																																																																																				0.624	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1		NM_000085	
CRAMP1L	57585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1682305	1682305	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:1682305G>C	ENST00000397412.3	+	4	732	c.633G>C	c.(631-633)caG>caC	p.Q211H	LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.G16R|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q208H|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q211H			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	211	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q211H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ACAAGGAGCAGGTCCGCCACT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											40.0	48.0	45.0					16																	1682305		2119	4238	6357	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.633G>C	16.37:g.1682305G>C	ENSP00000380559:p.Gln211His	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900357	0.72754	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	T;T;T	0.80393	-1.37;-1.37;-1.37	5.39	1.26	0.21427	SANT domain, DNA binding (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.85818	0.5785	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.83954	0.0318	10	0.66056	D	0.02	-25.4718	10.2828	0.43550	0.2625:0.0:0.7375:0.0	.	211	Q96RY5	CRML_HUMAN	H	211;211;208	ENSP00000380559:Q211H;ENSP00000293925:Q211H;ENSP00000413634:Q208H	ENSP00000293925:Q211H	Q	+	3	2	CRAMP1L	1622306	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.433000	0.52834	0.081000	0.16988	0.563000	0.77884	CAG		0.527	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			
CREBBP	1387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3843626	3843626	+	Splice_Site	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:3843626G>A	ENST00000262367.5	-	4	1786	c.977C>T	c.(976-978)tCt>tTt	p.S326F	CREBBP_ENST00000382070.3_Splice_Site_p.S326F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	326	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S326F(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGCATCTGAGACTAAAATAA	0.368			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	kidney(1)											105.0	89.0	95.0					16																	3843626		2197	4300	6497	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.976-1C>T	16.37:g.3843626G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200501	0.58126	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83673	-1.75;-1.67	5.91	5.91	0.95273	.	0.370724	0.25704	N	0.028850	D	0.86698	0.5995	L	0.29908	0.895	0.40715	D	0.982605	D;D	0.69078	0.989;0.997	D;P	0.67231	0.95;0.706	D	0.87463	0.2409	10	0.59425	D	0.04	-19.894	19.2867	0.94077	0.0:0.0:1.0:0.0	.	394;326	Q4LE28;Q92793	.;CBP_HUMAN	F	326;394;326	ENSP00000262367:S326F;ENSP00000371502:S326F	ENSP00000262367:S326F	S	-	2	0	CREBBP	3783627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.292000	0.65673	2.793000	0.96121	0.655000	0.94253	TCT		0.368	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380	Missense_Mutation
CLEC18B	497190	broad.mit.edu	37	16	74444509	74444509	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:74444509T>A	ENST00000339953.5	-	10	1257	c.1136A>T	c.(1135-1137)aAg>aTg	p.K379M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	379	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.K379M(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAGGAGTCCTTGGCGGTCTT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											34.0	38.0	37.0					16																	74444509		2194	4273	6467	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1136A>T	16.37:g.74444509T>A	ENSP00000341051:p.Lys379Met	Somatic		WXS	Illumina GAIIx	Phase_I	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	t	15.47	2.844352	0.51164	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.55760	0.5	3.14	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.58810	1.83	0.36582	D	0.87359	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70128	-0.4957	10	0.72032	D	0.01	.	7.7135	0.28692	0.0:0.0:0.0:1.0	.	379;379	C9JSV1;Q6UXF7	.;CL18B_HUMAN	M	379	ENSP00000341051:K379M	ENSP00000341051:K379M	K	-	2	0	CLEC18B	73002010	1.000000	0.71417	0.828000	0.32881	0.781000	0.44180	3.811000	0.55620	1.297000	0.44761	0.352000	0.21897	AAG		0.647	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1		NM_001011880	
DHX35	60625	hgsc.bcm.edu;ucsc.edu	37	20	37623522	37623523	+	Splice_Site	INS	-	-	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:37623522_37623523insC	ENST00000252011.3	+	8	674_675	c.641_642insC	c.(640-645)gacaaa>gaCcaaa	p.K215fs	DHX35_ENST00000373323.4_Splice_Site_p.K184fs|DHX35_ENST00000373325.2_Splice_Site_p.K215fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	215	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.D214G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGATGCAGACGTAAGAGCCT	0.416																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001630	splice_region_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.642+1->C	20.37:g.37623523_37623523dupC		Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	ENST00000252011.3	37	CCDS13310.1																																																																																				0.416	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931	Frame_Shift_Ins
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11786998	11786998	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:11786998C>A	ENST00000262442.4	+	56	10970	c.10902C>A	c.(10900-10902)ttC>ttA	p.F3634L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.F3634L|DNAH9_ENST00000608377.1_De_novo_Start_InFrame	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3634	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F3634F(1)|p.F3634L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGGAACTTCCTGGGAGAAA	0.498																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											95.0	89.0	91.0					17																	11786998		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10902C>A	17.37:g.11786998C>A	ENSP00000262442:p.Phe3634Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041724	0.75732	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.50813	0.73;0.73	4.91	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	N	0.16166	0.38	0.80722	D	1	B	0.27951	0.195	B	0.41036	0.346	T	0.04565	-1.0942	10	0.08837	T	0.75	.	11.1031	0.48186	0.0:0.8505:0.0:0.1495	.	3634	Q9NYC9	DYH9_HUMAN	L	3634;3634;2216	ENSP00000262442:F3634L;ENSP00000414874:F3634L	ENSP00000262442:F3634L	F	+	3	2	DNAH9	11727723	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.876000	0.56115	0.777000	0.33496	0.655000	0.94253	TTC		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372	
ERBB2IP	55914	broad.mit.edu;ucsc.edu	37	5	65288621	65288621	+	Silent	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:65288621T>C	ENST00000284037.5	+	3	464	c.75T>C	c.(73-75)acT>acC	p.T25T	ERBB2IP_ENST00000380939.2_Silent_p.T25T|ERBB2IP_ENST00000511297.1_Silent_p.T25T|ERBB2IP_ENST00000416865.2_Silent_p.T25T|ERBB2IP_ENST00000380935.1_Silent_p.T25T|ERBB2IP_ENST00000506030.1_Silent_p.T25T|ERBB2IP_ENST00000380938.2_Silent_p.T25T|ERBB2IP_ENST00000380936.1_Silent_p.T25T|ERBB2IP_ENST00000508515.1_Silent_p.T25T|ERBB2IP_ENST00000380943.2_Silent_p.T25T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	25					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.T25T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGACTGTCACTACTCTTGATT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	131.0	132.0					5																	65288621		2203	4300	6503	SO:0001819	synonymous_variant	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.75T>C	5.37:g.65288621T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695	
FAM166A	401565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140139762	140139762	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:140139762G>T	ENST00000344774.4	-	3	573	c.519C>A	c.(517-519)caC>caA	p.H173Q	FAM166A_ENST00000388932.2_Missense_Mutation_p.H173Q	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	173						nucleus (GO:0005634)		p.H173Q(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGCTGCCTGGTGCTGCCTGG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											55.0	55.0	55.0					9																	140139762		2203	4300	6503	SO:0001583	missense	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.519C>A	9.37:g.140139762G>T	ENSP00000344729:p.His173Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	1.419	-0.573420	0.03882	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	0.711	0.18162	.	1.978820	0.02228	N	0.064622	T	0.19725	0.0474	N	0.16478	0.41	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	9	0.07325	T	0.83	-3.7428	3.381	0.07255	0.3761:0.2017:0.4221:0.0	.	173	Q6J272	F166A_HUMAN	Q	173;173;200	.	ENSP00000344729:H173Q	H	-	3	2	FAM166A	139259583	0.017000	0.18338	0.075000	0.20258	0.009000	0.06853	0.213000	0.17521	0.219000	0.20840	-0.264000	0.10439	CAC		0.657	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1		NM_001001710	
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0																																										SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1		XM_001718353	
PIEZO1	9780	broad.mit.edu	37	16	88800396	88800398	+	In_Frame_Del	DEL	CTG	CTG	-	rs144777557|rs144269709|rs62639697	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:88800396_88800398delCTG	ENST00000301015.9	-	17	2491_2493	c.2245_2247delCAG	c.(2245-2247)cagdel	p.Q749del	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	749					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.Q749delQ(1)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						cctcctcctcctgctgctgctgc	0.665																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	prostate(1)|breast(1)								527,2913		93,341,1286						-0.9	0.5		dbSNP_129	10	963,5733		197,569,2582	no	coding	PIEZO1	NM_001142864.2		290,910,3868	A1A1,A1R,RR		14.3817,15.3198,14.7001				1490,8646				SO:0001651	inframe_deletion	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2245_2247delCAG	16.37:g.88800405_88800407delCTG	ENSP00000301015:p.Gln749del	Somatic		WXS	Illumina GAIIx	Phase_I	A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	ENST00000301015.9	37	CCDS54058.1																																																																																				0.665	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4		NM_014745	
FAM86DP	692099	broad.mit.edu	37	3	75476735	75476735	+	RNA	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:75476735C>T	ENST00000459803.1	-	0	621					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.E194E(3)									CTCGGAGCTGCTCGAGGACCC	0.602																																																	3	Substitution - coding silent(3)	kidney(2)|endometrium(1)																																										0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476735C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000459803.1	37																																																																																					0.602	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1		NR_024241	
FAM86DP	692099	broad.mit.edu	37	3	75476737	75476737	+	RNA	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:75476737C>T	ENST00000459803.1	-	0	619					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.E194K(2)									CGGAGCTGCTCGAGGACCCGG	0.602																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)																																										0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476737C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000459803.1	37																																																																																					0.602	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1		NR_024241	
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	187549904	187549904	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr4:187549904A>T	ENST00000441802.2	-	8	4546	c.4337T>A	c.(4336-4338)gTa>gAa	p.V1446E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1446	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1446E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTGTCTATTACTTTGATGAA	0.318										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												2	Substitution - Missense(2)	kidney(2)											57.0	52.0	53.0					4																	187549904		1840	4085	5925	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4337T>A	4.37:g.187549904A>T	ENSP00000406229:p.Val1446Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408413	0.83340	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.74526	-0.85	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.058601	0.64402	D	0.000002	D	0.90549	0.7038	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93420	0.6776	10	0.87932	D	0	.	15.7623	0.78096	1.0:0.0:0.0:0.0	.	1446	Q14517	FAT1_HUMAN	E	1446	ENSP00000406229:V1446E	ENSP00000260147:V1446E	V	-	2	0	FAT1	187786898	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	9.139000	0.94554	2.311000	0.77944	0.533000	0.62120	GTA		0.318	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245	
GALK1	2584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73758818	73758818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:73758818delT	ENST00000588479.1	-	5	1334	c.760delA	c.(760-762)agcfs	p.S254fs	GALK1_ENST00000437911.1_Frame_Shift_Del_p.S284fs|GALK1_ENST00000225614.2_Frame_Shift_Del_p.S254fs			P51570	GALK1_HUMAN	galactokinase 1	254					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCGGAGGCTTTCCTTGCCC	0.637																																																	0													60.0	60.0	60.0					17																	73758818		2203	4300	6503	SO:0001589	frameshift_variant	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.760delA	17.37:g.73758818delT	ENSP00000465930:p.Ser254fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC07|B4E1G6	Frame_Shift_Del	DEL	ENST00000588479.1	37	CCDS11728.1																																																																																				0.637	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1			
GEMIN6	79833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39008932	39008932	+	Silent	SNP	T	T	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:39008932T>G	ENST00000281950.3	+	3	518	c.402T>G	c.(400-402)acT>acG	p.T134T	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	134					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.T134T(1)		kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GGGTCCTGACTATAGACCCAC	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	84.0	83.0					2																	39008932		2203	4300	6503	SO:0001819	synonymous_variant	79833			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.402T>G	2.37:g.39008932T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Silent	SNP	ENST00000281950.3	37	CCDS1799.1																																																																																				0.468	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			
HNRNPK	3190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86592692	86592692	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:86592692G>T	ENST00000376264.2	-	4	326	c.68C>A	c.(67-69)cCt>cAt	p.P23H	HNRNPK_ENST00000376263.3_Missense_Mutation_p.P23H|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P23H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P23H|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P23H	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	23	Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.P23H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ATCTTCTGCAGGGCGTTTACC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											57.0	55.0	56.0					9																	86592692		2202	4299	6501	SO:0001583	missense	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.68C>A	9.37:g.86592692G>T	ENSP00000365440:p.Pro23His	Somatic		WXS	Illumina HiSeq	Phase_I	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789608	0.90367	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.49139	0.79;0.8;0.79;0.8;0.8	5.03	5.03	0.67393	ROK, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.996;0.999;1.0;0.997	T	0.61983	-0.6950	10	0.52906	T	0.07	-3.529	18.7965	0.91995	0.0:0.0:1.0:0.0	.	23;23;23;23;23;23;23;23	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	23	ENSP00000365458:P23H;ENSP00000365440:P23H;ENSP00000365439:P23H;ENSP00000317788:P23H;ENSP00000353552:P23H	ENSP00000317788:P23H	P	-	2	0	HNRNPK	85782512	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.435000	0.97529	2.494000	0.84150	0.650000	0.86243	CCT		0.368	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			
GOLGA2	2801	hgsc.bcm.edu	37	9	131020812	131020812	+	Missense_Mutation	SNP	C	C	A	rs143073995	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:131020812C>A	ENST00000421699.2	-	21	2142	c.2130G>T	c.(2128-2130)gaG>gaT	p.E710D	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.E698D	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	710	Poly-Glu.				mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						cctcctcctcctcctcatcct	0.652																																																	0													41.0	36.0	38.0					9																	131020812		2203	4300	6503	SO:0001583	missense	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2130G>T	9.37:g.131020812C>A	ENSP00000416097:p.Glu710Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	a	3.615	-0.078829	0.07141	.	.	ENSG00000167110	ENST00000421699	D	0.89746	-2.56	1.03	-2.07	0.07276	.	1.118960	0.07333	U	0.879535	T	0.76335	0.3973	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	P	0.47251	0.542	T	0.67554	-0.5641	10	0.15952	T	0.53	.	4.3404	0.11106	0.0:0.5807:0.0:0.4192	.	710	Q08379	GOGA2_HUMAN	D	710	ENSP00000416097:E710D	ENSP00000416097:E710D	E	-	3	2	GOLGA2	130060633	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.550000	0.23345	-0.517000	0.06461	-0.531000	0.04308	GAG		0.652	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486	
HSD17B11	51170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88293948	88293948	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr4:88293948G>A	ENST00000358290.4	-	4	785	c.470C>T	c.(469-471)cCt>cTt	p.P157L	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.P113L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	157					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.P157L(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CGTCATTGCAGGAAGAAATGC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											150.0	125.0	134.0					4																	88293948		2203	4300	6503	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.470C>T	4.37:g.88293948G>A	ENSP00000351035:p.Pro157Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206893	0.79127	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.92699	-3.09;0.13	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.97331	0.9127	H	0.95611	3.695	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.98485	1.0607	10	0.87932	D	0	.	17.7771	0.88513	0.0:0.0:1.0:0.0	.	157	Q8NBQ5	DHB11_HUMAN	L	157;113	ENSP00000351035:P157L;ENSP00000423775:P113L	ENSP00000351035:P157L	P	-	2	0	HSD17B11	88512972	1.000000	0.71417	0.991000	0.47740	0.798000	0.45092	6.429000	0.73387	2.484000	0.83849	0.655000	0.94253	CCT		0.388	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1		NM_016245	
HSP90B1	7184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104341410	104341410	+	Splice_Site	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:104341410G>A	ENST00000299767.5	+	18	2564		c.e18-1		C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1						actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.?(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTTATTTACAGGAATCTACAG	0.323																																																	1	Unknown(1)	kidney(1)											58.0	59.0	59.0					12																	104341410		2203	4300	6503	SO:0001630	splice_region_variant	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2383-1G>A	12.37:g.104341410G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96A97	Splice_Site	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277735	0.59758	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0112	0.92874	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSP90B1	102865540	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	7.223000	0.78033	2.550000	0.86006	0.655000	0.94253	.		0.323	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299	Intron
HTR2B	3357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	231973291	231973291	+	Silent	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:231973291A>G	ENST00000258400.3	-	4	1898	c.1386T>C	c.(1384-1386)gaT>gaC	p.D462D	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	462					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.D462D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GGAGAAGCGTATCTAGTAGAA	0.398																																					Ovarian(155;1331 1891 12853 14038 34991)												1	Substitution - coding silent(1)	kidney(1)											90.0	84.0	86.0					2																	231973291		2203	4300	6503	SO:0001819	synonymous_variant	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1386T>C	2.37:g.231973291A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9D5|Q53TI1|Q62221|Q6P523	Silent	SNP	ENST00000258400.3	37	CCDS2483.1																																																																																				0.398	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2		NM_000867	
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53579648	53579648	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chrX:53579648G>T	ENST00000342160.3	-	61	9158	c.8701C>A	c.(8701-8703)Caa>Aaa	p.Q2901K	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q2901K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2901					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.Q2901K(1)|p.Q2791K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCTGCCTTGCACTTCCGCC	0.582																																																	2	Substitution - Missense(2)	kidney(2)											57.0	56.0	56.0					X																	53579648		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8701C>A	X.37:g.53579648G>T	ENSP00000340648:p.Gln2901Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.352|9.352	1.065879|1.065879	0.20067|0.20067	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.36878	.|1.23;1.23	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.674051	.|0.14906	.|N	.|0.291532	T|T	0.29126|0.29126	0.0724|0.0724	N|N	0.24115|0.24115	0.695|0.695	0.50171|0.50171	D|D	0.999858|0.999858	.|B;B	.|0.22146	.|0.016;0.065	.|B;B	.|0.21546	.|0.015;0.035	T|T	0.07673|0.07673	-1.0760|-1.0760	5|10	.|0.21014	.|T	.|0.42	.|.	17.7556|17.7556	0.88447|0.88447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2901;2901	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	E|K	1934|2901	.|ENSP00000340648:Q2901K;ENSP00000262854:Q2901K	.|ENSP00000262854:Q2901K	A|Q	-|-	2|1	0|0	HUWE1|HUWE1	53596373|53596373	0.999000|0.999000	0.42202|0.42202	0.239000|0.239000	0.24122|0.24122	0.191000|0.191000	0.23601|0.23601	5.938000|5.938000	0.70170|0.70170	2.465000|2.465000	0.83290|0.83290	0.600000|0.600000	0.82982|0.82982	GCA|CAA		0.582	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119	
KCNK5	8645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	39162421	39162421	+	Silent	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:39162421C>G	ENST00000359534.3	-	3	752	c.414G>C	c.(412-414)ggG>ggC	p.G138G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	138					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G138G(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGCACGTCCCCCGAAGAACT	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	108.0	113.0					6																	39162421		2203	4300	6503	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.414G>C	6.37:g.39162421C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	CCDS4841.1																																																																																				0.597	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1		NM_003740	
KCNT1	57582	broad.mit.edu;hgsc.bcm.edu	37	9	138662896	138662896	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:138662896G>A	ENST00000263604.3	+	18	1906	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	KCNT1_ENST00000487664.1_Missense_Mutation_p.E610K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E636K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E622K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E616K|KCNT1_ENST00000298480.5_Missense_Mutation_p.E655K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E655K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E636K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	636					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.E655K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGGGCTGCACGAGGGTCCGGC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											37.0	34.0	35.0					9																	138662896		2203	4300	6503	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1906G>A	9.37:g.138662896G>A	ENSP00000263604:p.Glu636Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	G	8.071	0.770358	0.15983	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.21932	1.99;1.98;1.98;1.98	3.47	2.53	0.30540	.	0.132125	0.48286	U	0.000184	T	0.15046	0.0363	L	0.29908	0.895	0.35573	D	0.805652	B;B;B;B	0.15719	0.008;0.002;0.014;0.008	B;B;B;B	0.11329	0.004;0.003;0.006;0.004	T	0.12837	-1.0532	10	0.28530	T	0.3	-37.0084	12.3901	0.55355	0.0:0.1714:0.8286:0.0	.	622;655;610;636	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	K	610;655;655;616;622;636;636;636	ENSP00000417851:E610K;ENSP00000298480:E655K;ENSP00000360822:E655K;ENSP00000263604:E636K	ENSP00000263604:E636K	E	+	1	0	KCNT1	137802717	0.758000	0.28405	0.109000	0.21407	0.304000	0.27724	1.033000	0.30191	0.601000	0.29879	0.467000	0.42956	GAG		0.652	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822	
LECT1	11061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53313233	53313233	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:53313233G>A	ENST00000377962.3	-	2	224	c.146C>T	c.(145-147)tCg>tTg	p.S49L	LECT1_ENST00000448904.2_Missense_Mutation_p.S49L			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	49					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.S49L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CACAGCTCCCGAAATGAGGAC	0.701																																																	1	Substitution - Missense(1)	kidney(1)											27.0	37.0	34.0					13																	53313233		2202	4297	6499	SO:0001583	missense	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.146C>T	13.37:g.53313233G>A	ENSP00000367198:p.Ser49Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446426	0.25987	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28255	1.62;1.62	4.55	3.71	0.42584	.	0.368671	0.27906	N	0.017373	T	0.17619	0.0423	N	0.19112	0.55	0.32059	N	0.595936	B;B;B	0.15719	0.014;0.003;0.002	B;B;B	0.08055	0.002;0.003;0.001	T	0.15723	-1.0427	10	0.22109	T	0.4	.	8.9492	0.35779	0.0831:0.1494:0.7675:0.0	.	85;49;49	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	L	49	ENSP00000388576:S49L;ENSP00000367198:S49L	ENSP00000367198:S49L	S	-	2	0	LECT1	52211234	0.993000	0.37304	0.458000	0.27068	0.304000	0.27724	2.520000	0.45554	0.887000	0.36136	0.462000	0.41574	TCG		0.701	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			
LILRA6	79168	broad.mit.edu;hgsc.bcm.edu	37	19	54744308	54744308	+	Missense_Mutation	SNP	C	C	T	rs201828111		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:54744308C>T	ENST00000396365.2	-	6	1139	c.1100G>A	c.(1099-1101)cGt>cAt	p.R367H	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R367H|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.R367H	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	367	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R367H(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGATCTCAGACGCAGTGGGGG	0.557																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						C	HIS/ARG	0,4406		0,0,2203	61.0	91.0	81.0		1100	-3.7	0.0	19		81	1,8591	1.2+/-3.3	0,1,4295	no	missense	LILRA6	NM_024318.2	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		367/482	54744308	1,12997	2203	4296	6499	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1100G>A	19.37:g.54744308C>T	ENSP00000379651:p.Arg367His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	1.340	-0.594330	0.03771	0.0	1.16E-4	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.03035	4.07;4.07;4.07	1.86	-3.72	0.04411	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.700449	0.12216	N	0.488788	T	0.02688	0.0081	L	0.41710	1.295	0.09310	N	0.999999	B;D;B	0.63046	0.121;0.992;0.178	B;B;B	0.40565	0.021;0.333;0.106	T	0.21724	-1.0237	10	0.27785	T	0.31	.	5.6296	0.17504	0.177:0.5877:0.0:0.2353	.	367;367;367	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	H	367	ENSP00000411227:R367H;ENSP00000379651:R367H;ENSP00000245621:R367H	ENSP00000245621:R367H	R	-	2	0	LILRA6	59436120	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.497000	0.00118	-1.995000	0.00971	-1.373000	0.01185	CGT		0.557	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1		NM_024318	
MAGEA10	4109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151303310	151303310	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chrX:151303310G>T	ENST00000370323.4	-	4	1099	c.783C>A	c.(781-783)caC>caA	p.H261Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.H261Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.H261Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAATGAGGTGCTCCATCC	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											85.0	80.0	82.0					X																	151303310		2203	4300	6503	SO:0001583	missense	4109				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.783C>A	X.37:g.151303310G>T	ENSP00000359347:p.His261Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000370323.4	37	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898015	0.52227	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05513	3.43;3.43	2.6	-0.415	0.12355	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	H	0.95328	3.655	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.07770	-1.0755	10	0.87932	D	0	.	5.3759	0.16164	0.4739:0.0:0.5261:0.0	.	261	P43363	MAGAA_HUMAN	Q	261	ENSP00000359347:H261Q;ENSP00000244096:H261Q	ENSP00000244096:H261Q	H	-	3	2	MAGEA10	151053966	0.005000	0.15991	0.000000	0.03702	0.547000	0.35210	-0.324000	0.07986	-0.235000	0.09767	0.292000	0.19580	CAC		0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3		NM_021048	
MANSC1	54682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	12483330	12483330	+	Silent	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:12483330T>A	ENST00000535902.1	-	4	1490	c.927A>T	c.(925-927)gcA>gcT	p.A309A	MANSC1_ENST00000545735.1_Silent_p.A228A|MANSC1_ENST00000396349.3_Silent_p.A275A			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	309	Thr-rich.					integral component of membrane (GO:0016021)		p.A309A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGTCCGTAGGTGCCTGAAAGG	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	99.0	102.0					12																	12483330		2203	4300	6503	SO:0001819	synonymous_variant	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.927A>T	12.37:g.12483330T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	CCDS8648.1																																																																																				0.478	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1		NM_018050	
MAPK8IP1	9479	hgsc.bcm.edu;ucsc.edu	37	11	45925694	45925694	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:45925694G>C	ENST00000241014.2	+	7	1818	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E540Q	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	550	Interaction with VRK2.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGTCACCAAGGAGCCCGAGCA	0.597																																																	0													65.0	52.0	56.0					11																	45925694		2203	4299	6502	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1648G>C	11.37:g.45925694G>C	ENSP00000241014:p.Glu550Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316315	0.60524	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.14766	2.48;2.48	5.41	5.41	0.78517	Src homology-3 domain (1);Pleckstrin homology-type (1);	0.103551	0.64402	D	0.000004	T	0.13586	0.0329	L	0.29908	0.895	0.80722	D	1	B	0.18310	0.027	B	0.22601	0.04	T	0.09707	-1.0662	10	0.27785	T	0.31	-31.0205	19.5562	0.95349	0.0:0.0:1.0:0.0	.	550	Q9UQF2	JIP1_HUMAN	Q	550;540	ENSP00000241014:E550Q;ENSP00000378991:E540Q	ENSP00000241014:E550Q	E	+	1	0	MAPK8IP1	45882270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.698000	0.92095	0.561000	0.74099	GAG		0.597	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1		NM_005456	
MTERF1	7978	broad.mit.edu	37	7	91503926	91503926	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:91503926T>G	ENST00000351870.3	-	3	275	c.182A>C	c.(181-183)aAg>aCg	p.K61T	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.K41T|MTERF_ENST00000419292.1_Missense_Mutation_p.K41T	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		61					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.K61T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ATTATGACACTTCACACCAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											90.0	86.0	87.0					7																	91503926		2203	4300	6503	SO:0001583	missense	7978																														ENST00000351870.3:c.182A>C	7.37:g.91503926T>G	ENSP00000248643:p.Lys61Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	T	3.993	-0.004029	0.07773	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735;ENST00000456229;ENST00000442961	T;T;T	0.19532	2.16;2.14;2.16	3.57	2.39	0.29439	.	0.633962	0.15064	N	0.282589	T	0.14743	0.0356	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.21008	-1.0258	10	0.33141	T	0.24	-4.8689	9.6117	0.39668	0.0:0.0:0.177:0.823	.	61	Q99551	MTERF_HUMAN	T	41;61;41;41;61	ENSP00000414116:K41T;ENSP00000248643:K61T;ENSP00000384986:K41T	ENSP00000248643:K61T	K	-	2	0	MTERF	91341862	0.777000	0.28628	0.010000	0.14722	0.048000	0.14542	2.831000	0.48144	0.713000	0.32060	0.482000	0.46254	AAG		0.368	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			
MCM7	4176	broad.mit.edu;ucsc.edu	37	7	99693479	99693479	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:99693479T>C	ENST00000303887.5	-	11	2158	c.1513A>G	c.(1513-1515)Ata>Gta	p.I505V	MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.I329V	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	505	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.I505V(1)|p.I329V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTAGCTGTATGTTCTGCTCC	0.617																																																	2	Substitution - Missense(2)	kidney(2)											106.0	100.0	102.0					7																	99693479		2203	4300	6503	SO:0001583	missense	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1513A>G	7.37:g.99693479T>C	ENSP00000307288:p.Ile505Val	Somatic		WXS	Illumina GAIIx	Phase_I	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.427193	0.43122	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.07567	3.18;3.18	5.43	2.98	0.34508	ATPase, AAA+ type, core (1);	0.170752	0.50627	N	0.000116	T	0.06416	0.0165	L	0.31804	0.96	0.44462	D	0.99739	B	0.06786	0.001	B	0.18561	0.022	T	0.27297	-1.0078	10	0.39692	T	0.17	-16.384	7.9139	0.29806	0.0:0.1849:0.0:0.8151	.	505	P33993	MCM7_HUMAN	V	505;442;398;329	ENSP00000307288:I505V;ENSP00000346171:I329V	ENSP00000307288:I505V	I	-	1	0	MCM7	99531415	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.033000	0.49743	1.030000	0.39839	0.533000	0.62120	ATA		0.617	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			
MTOR	2475	broad.mit.edu;ucsc.edu	37	1	11168294	11168294	+	Silent	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:11168294C>T	ENST00000361445.4	-	57	7654	c.7578G>A	c.(7576-7578)gaG>gaA	p.E2526E	MTOR_ENST00000376838.1_Silent_p.E731E	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2526	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E2526E(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGATGAGCAGCTCAACTTGCG	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	117.0	124.0					1																	11168294		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7578G>A	1.37:g.11168294C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MUC4	4585	broad.mit.edu	37	3	195505867	195505867	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:195505867A>T	ENST00000463781.3	-	2	13043	c.12584T>A	c.(12583-12585)gTc>gAc	p.V4195D	MUC4_ENST00000475231.1_Missense_Mutation_p.V4195D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4195D(6)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTGTCGGTGACAGGAAGAGG	0.607																																																	6	Substitution - Missense(6)	endometrium(3)|kidney(3)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12584T>A	3.37:g.195505867A>T	ENSP00000417498:p.Val4195Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	0.384	-0.927152	0.02377	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36157	1.42;1.27	.	.	.	.	.	.	.	.	T	0.34513	0.0900	N	0.19112	0.55	0.29126	N	0.879938	D	0.67145	0.996	D	0.69479	0.964	T	0.27938	-1.0059	7	.	.	.	.	4.4413	0.11575	0.3374:0.0:0.6626:0.0	.	4067	E7ESK3	.	D	4195	ENSP00000417498:V4195D;ENSP00000420243:V4195D	.	V	-	2	0	MUC4	196990646	0.000000	0.05858	0.033000	0.17914	0.055000	0.15305	-2.347000	0.01095	-0.475000	0.06852	0.063000	0.15292	GTC		0.607	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)																																								SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.574	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NKAIN2	154215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	124979381	124979381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:124979381delG	ENST00000368417.1	+	4	383	c.323delG	c.(322-324)tggfs	p.W108fs	NKAIN2_ENST00000368416.1_Frame_Shift_Del_p.W108fs|NKAIN2_ENST00000545433.1_Frame_Shift_Del_p.W93fs|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CGATCTTGGTGGATGGAGAAT	0.463																																																	0													139.0	131.0	133.0					6																	124979381		2203	4300	6503	SO:0001589	frameshift_variant	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.323delG	6.37:g.124979381delG	ENSP00000357402:p.Trp108fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYR4|Q8TF67	Frame_Shift_Del	DEL	ENST00000368417.1	37	CCDS34526.1																																																																																				0.463	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1		NM_001040214	
PACS2	23241	broad.mit.edu;ucsc.edu	37	14	105843135	105843135	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:105843135C>T	ENST00000325438.8	+	9	1336	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PACS2_ENST00000458164.2_Missense_Mutation_p.H278Y|PACS2_ENST00000547217.1_Missense_Mutation_p.H248Y|PACS2_ENST00000447393.1_Missense_Mutation_p.H278Y|PACS2_ENST00000430725.2_Missense_Mutation_p.H203Y			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	278					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.H278Y(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGCGGAGCACATCCCCGA	0.677																																																	1	Substitution - Missense(1)	kidney(1)											66.0	56.0	59.0					14																	105843135		2202	4299	6501	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.832C>T	14.37:g.105843135C>T	ENSP00000321834:p.His278Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019701	0.75275	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.8	4.8	0.61643	.	0.116963	0.64402	D	0.000013	T	0.24928	0.0605	L	0.44542	1.39	0.49687	D	0.99981	P;P;D;P	0.58970	0.828;0.795;0.984;0.898	B;P;P;B	0.50490	0.37;0.491;0.642;0.354	T	0.01440	-1.1354	10	0.59425	D	0.04	-5.1126	16.4058	0.83669	0.0:1.0:0.0:0.0	.	278;278;278;279	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	Y	203;278;278;278;248	ENSP00000393524:H203Y;ENSP00000321834:H278Y;ENSP00000399732:H278Y;ENSP00000393559:H278Y;ENSP00000449525:H248Y	ENSP00000321834:H278Y	H	+	1	0	PACS2	104914180	1.000000	0.71417	0.965000	0.40720	0.925000	0.55904	7.584000	0.82572	2.200000	0.70718	0.467000	0.42956	CAC		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1		XM_377355	
PAQR5	54852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69672243	69672243	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:69672243C>G	ENST00000340965.3	+	4	741	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	PAQR5_ENST00000561153.1_Missense_Mutation_p.L25V|PAQR5_ENST00000395407.2_Missense_Mutation_p.L25V|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	25					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.L25V(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GCAAGGCATCCTGTTCGGCTA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											267.0	240.0	249.0					15																	69672243		2200	4298	6498	SO:0001583	missense	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.73C>G	15.37:g.69672243C>G	ENSP00000343877:p.Leu25Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617250	0.46736	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.27557	1.66;1.66	5.68	4.69	0.59074	.	0.052632	0.64402	D	0.000001	T	0.23210	0.0561	L	0.33339	1.005	0.44880	D	0.997896	B	0.20368	0.044	B	0.21360	0.034	T	0.03630	-1.1018	10	0.41790	T	0.15	0.0445	10.4927	0.44760	0.317:0.683:0.0:0.0	.	25	Q9NXK6	MPRG_HUMAN	V	25	ENSP00000378803:L25V;ENSP00000343877:L25V	ENSP00000343877:L25V	L	+	1	2	PAQR5	67459297	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.619000	0.36965	2.664000	0.90586	0.655000	0.94253	CTG		0.537	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1		NM_017705	
PCDHB8	56128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140559876	140559876	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:140559876T>C	ENST00000239444.2	+	1	2506	c.2261T>C	c.(2260-2262)gTg>gCg	p.V754A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V754A(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTACGAGGTGTGCCTGGCA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											101.0	102.0	102.0					5																	140559876		2203	4300	6503	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2261T>C	5.37:g.140559876T>C	ENSP00000239444:p.Val754Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568360	0.45798	.	.	ENSG00000120322	ENST00000239444	T	0.15139	2.45	4.53	4.53	0.55603	.	.	.	.	.	T	0.31358	0.0794	M	0.85859	2.78	0.36275	D	0.855401	B	0.28082	0.2	B	0.36030	0.216	T	0.44711	-0.9310	9	0.87932	D	0	.	13.5476	0.61713	0.0:0.0:0.0:1.0	.	754	Q9UN66	PCDB8_HUMAN	A	754	ENSP00000239444:V754A	ENSP00000239444:V754A	V	+	2	0	PCDHB8	140540060	1.000000	0.71417	0.988000	0.46212	0.101000	0.19017	4.881000	0.63114	1.673000	0.50895	0.455000	0.32223	GTG		0.562	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120	
PCNT	5116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47783470	47783470	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr21:47783470G>A	ENST00000359568.5	+	14	2337	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	744	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E744K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GATGAAACAGGAATTCCAAAG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											135.0	137.0	136.0					21																	47783470		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2230G>A	21.37:g.47783470G>A	ENSP00000352572:p.Glu744Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292256	0.59976	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.24350	1.86	5.11	4.02	0.46733	.	0.233454	0.22139	N	0.064062	T	0.27313	0.0670	L	0.34521	1.04	0.09310	N	1	B;D	0.67145	0.194;0.996	B;P	0.55923	0.045;0.787	T	0.06162	-1.0842	10	0.27082	T	0.32	.	7.6536	0.28363	0.1679:0.0:0.8321:0.0	.	626;744	O95613-2;O95613	.;PCNT_HUMAN	K	744;731	ENSP00000352572:E744K	ENSP00000338675:E731K	E	+	1	0	PCNT	46607898	0.014000	0.17966	0.014000	0.15608	0.022000	0.10575	0.564000	0.23563	2.392000	0.81423	0.650000	0.86243	GAA		0.378	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031	
PCSK9	255738	broad.mit.edu;hgsc.bcm.edu	37	1	55527082	55527082	+	Silent	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:55527082C>T	ENST00000302118.5	+	11	2006	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	572	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G572G(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						AGGACCTTGGCACCCACAAGC	0.657																																					Pancreas(137;1454 1827 5886 22361 42375)												1	Substitution - coding silent(1)	kidney(1)											24.0	24.0	24.0					1																	55527082		2202	4300	6502	SO:0001819	synonymous_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1716C>T	1.37:g.55527082C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.657	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1		NM_174936	
PITX3	5309	hgsc.bcm.edu	37	10	103991455	103991456	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:103991455_103991456insG	ENST00000370002.3	-	3	363_364	c.210_211insC	c.(208-213)accagcfs	p.S71fs	PITX3_ENST00000539804.1_Frame_Shift_Ins_p.S71fs	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	71					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCTGCTGGCTGGTGAAGTGCG	0.658																																																	0																																										SO:0001589	frameshift_variant	5309				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.211dupC	10.37:g.103991457_103991457dupG	ENSP00000359019:p.Ser71fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZL2	Frame_Shift_Ins	INS	ENST00000370002.3	37	CCDS7532.1																																																																																				0.658	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51917916	51917916	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:51917916A>G	ENST00000371117.3	-	21	2373	c.2098T>C	c.(2098-2100)Ttc>Ctc	p.F700L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F700L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	700					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.F700L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCACATAGAACAGGCCCGTC	0.512																																																	2	Substitution - Missense(2)	kidney(2)											72.0	73.0	72.0					6																	51917916		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2098T>C	6.37:g.51917916A>G	ENSP00000360158:p.Phe700Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130522	0.37630	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88509	-2.18;-2.39	5.63	3.51	0.40186	.	0.174773	0.37178	N	0.002220	T	0.70395	0.3219	L	0.46157	1.445	0.25276	N	0.989474	B;B	0.17465	0.021;0.022	B;B	0.16722	0.016;0.011	T	0.59263	-0.7487	10	0.26408	T	0.33	.	7.0155	0.24885	0.8438:0.0:0.1562:0.0	.	700;700	P08F94-2;P08F94	.;PKHD1_HUMAN	L	700	ENSP00000360158:F700L;ENSP00000341097:F700L	ENSP00000341097:F700L	F	-	1	0	PKHD1	52025875	0.994000	0.37717	0.370000	0.25965	0.715000	0.41141	3.145000	0.50623	0.659000	0.30945	-0.242000	0.12053	TTC		0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
PNMA1	9240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74180283	74180283	+	Silent	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:74180283A>G	ENST00000316836.3	-	1	845	c.60T>C	c.(58-60)gcT>gcC	p.A20A		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	20					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.A20A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		agactaacagagctctctggg	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	106.0	103.0					14																	74180283		2203	4300	6503	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.60T>C	14.37:g.74180283A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K4L5|O95144|Q8NG07	Silent	SNP	ENST00000316836.3	37	CCDS9818.1																																																																																				0.527	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1		NM_006029	
PNPLA8	50640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108143077	108143077	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:108143077T>A	ENST00000422087.1	-	6	1622	c.1216A>T	c.(1216-1218)Att>Ttt	p.I406F	PNPLA8_ENST00000388728.5_Missense_Mutation_p.I406F|PNPLA8_ENST00000257694.8_Missense_Mutation_p.I406F|PNPLA8_ENST00000436062.1_Missense_Mutation_p.I406F|PNPLA8_ENST00000426128.2_Missense_Mutation_p.I406F|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000453144.1_Missense_Mutation_p.I306F	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	406					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.I406F(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AAATATGGAATAATTCTTTCC	0.338																																																	1	Substitution - Missense(1)	kidney(1)											52.0	55.0	54.0					7																	108143077		2203	4300	6503	SO:0001583	missense	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1216A>T	7.37:g.108143077T>A	ENSP00000410804:p.Ile406Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923025	0.73213	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	6.08	4.75	0.60458	.	0.102804	0.64402	D	0.000004	T	0.20536	0.0494	M	0.65975	2.015	0.58432	D	0.999993	P	0.36683	0.565	B	0.34779	0.189	T	0.02991	-1.1085	10	0.62326	D	0.03	.	12.8137	0.57652	0.0:0.0729:0.0:0.9271	.	406	Q9NP80	PLPL8_HUMAN	F	406;406;406;406;306;406;306	ENSP00000394988:I406F;ENSP00000257694:I406F;ENSP00000373380:I406F;ENSP00000410804:I406F;ENSP00000387789:I306F;ENSP00000406779:I406F;ENSP00000402274:I306F	ENSP00000257694:I406F	I	-	1	0	PNPLA8	107930313	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.858000	0.39408	2.333000	0.79357	0.482000	0.46254	ATT		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1		NM_015723	
PPRC1	23082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103898406	103898406	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:103898406G>A	ENST00000278070.2	+	3	412	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	PPRC1_ENST00000413464.2_Missense_Mutation_p.V125M|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V125M(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGAATGAAGTGTCGCTGCT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											111.0	101.0	104.0					10																	103898406		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.373G>A	10.37:g.103898406G>A	ENSP00000278070:p.Val125Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385172	0.42308	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.58060	0.36;0.36	4.97	2.64	0.31445	.	0.395578	0.21562	N	0.072558	T	0.27663	0.0680	N	0.12182	0.205	0.23320	N	0.997913	B;B	0.26195	0.144;0.144	B;B	0.15870	0.014;0.014	T	0.14727	-1.0462	10	0.17369	T	0.5	.	7.8452	0.29421	0.1233:0.4577:0.419:0.0	.	125;125	E7EVG6;Q5VV67	.;PPRC1_HUMAN	M	125	ENSP00000278070:V125M;ENSP00000399743:V125M	ENSP00000278070:V125M	V	+	1	0	PPRC1	103888396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.679000	0.46909	0.378000	0.24764	0.462000	0.41574	GTG		0.493	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062	
PRDM10	56980	broad.mit.edu;hgsc.bcm.edu	37	11	129805103	129805103	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:129805103C>G	ENST00000360871.3	-	9	1281	c.1050G>C	c.(1048-1050)gaG>gaC	p.E350D	PRDM10_ENST00000358825.5_Missense_Mutation_p.E350D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E264D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E324D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E264D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E264D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E350D(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCTTCTCTTGCTCTCGAAGAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											108.0	105.0	106.0					11																	129805103		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1050G>C	11.37:g.129805103C>G	ENSP00000354118:p.Glu350Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	18.83	3.708032	0.68615	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.12465	2.69;2.71;2.69;2.69;2.75;2.68;2.74	5.11	3.23	0.37069	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.51422	1.61	0.52501	D	0.999956	D;D;D;D;D;D;D	0.71674	0.994;0.998;0.99;0.994;0.996;0.994;0.99	D;D;D;D;D;P;D	0.76071	0.97;0.913;0.98;0.97;0.987;0.876;0.98	T	0.00912	-1.1517	10	0.44086	T	0.13	-36.6425	8.277	0.31879	0.0:0.7604:0.0:0.2396	.	264;350;350;350;264;264;264	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	D	350;264;350;264;324;264;67	ENSP00000351686:E350D;ENSP00000302669:E264D;ENSP00000354118:E350D;ENSP00000398431:E264D;ENSP00000431262:E324D;ENSP00000432237:E264D;ENSP00000435940:E67D	ENSP00000302669:E264D	E	-	3	2	PRDM10	129310313	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.188000	0.32102	1.168000	0.42723	0.486000	0.48141	GAG		0.428	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1		NM_199437	
PRSS1	5644	broad.mit.edu;hgsc.bcm.edu	37	7	142458497	142458497	+	Silent	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:142458497C>A	ENST00000311737.7	+	2	138	c.132C>A	c.(130-132)ggC>ggA	p.G44G	PRSS1_ENST00000486171.1_Silent_p.G44G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.G44G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TGAATTCTGGCTACCACTTCT	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	112.0	113.0					7																	142458497		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.132C>A	7.37:g.142458497C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			
PTEN	5728	hgsc.bcm.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs146650273		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:89720799_89720802delTACT	ENST00000371953.3	+	8	2307_2310	c.950_953delTACT	c.(949-954)gtacttfs	p.VL317fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(19)|p.T319fs*1(12)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	91	Deletion - Frameshift(48)|Whole gene deletion(37)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	endometrium(23)|central_nervous_system(18)|prostate(17)|breast(8)|skin(7)|ovary(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|thyroid(1)|large_intestine(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.950_953delTACT	10.37:g.89720803_89720806delTACT	ENSP00000361021:p.Val317fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
PTPDC1	138639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96863956	96863956	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:96863956G>A	ENST00000375360.3	+	8	2300	c.1960G>A	c.(1960-1962)Gta>Ata	p.V654I	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Missense_Mutation_p.V706I	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	654					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V706I(1)|p.V654I(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GAAGGAGCCTGTAATCACCAA	0.483																																																	2	Substitution - Missense(2)	kidney(2)											172.0	163.0	166.0					9																	96863956		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1960G>A	9.37:g.96863956G>A	ENSP00000364509:p.Val654Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301627	0.40694	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.16457	2.34;2.34	5.6	3.76	0.43208	.	0.407180	0.28577	N	0.014850	T	0.11495	0.0280	L	0.31526	0.94	0.36989	D	0.894686	B;B;B;B	0.22683	0.028;0.047;0.028;0.073	B;B;B;B	0.22880	0.016;0.036;0.016;0.042	T	0.15780	-1.0425	10	0.25106	T	0.35	-16.3437	8.188	0.31350	0.2435:0.0:0.7565:0.0	.	708;706;708;654	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	I	654;706	ENSP00000364509:V654I;ENSP00000288976:V706I	ENSP00000288976:V706I	V	+	1	0	PTPDC1	95903777	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.303000	0.33470	1.364000	0.46038	0.655000	0.94253	GTA		0.483	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1		NM_177995, NM_152422	
PTPN12	5782	broad.mit.edu	37	7	77166962	77166962	+	Splice_Site	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:77166962G>A	ENST00000248594.6	+	1	371	c.99G>A	c.(97-99)atG>atA	p.M33I	PTPN12_ENST00000415482.2_5'Flank|PTPN12_ENST00000435495.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	33	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.M33I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGGACTTCATGGTGAGTCTCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											43.0	38.0	40.0					7																	77166962		2202	4300	6502	SO:0001630	splice_region_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.99+1G>A	7.37:g.77166962G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	g	10.22	1.290635	0.23564	.	.	ENSG00000127947	ENST00000248594	T	0.29917	1.55	2.98	2.98	0.34508	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.714785	0.14193	N	0.335250	T	0.27731	0.0682	L	0.45137	1.4	0.80722	D	1	B	0.18610	0.029	B	0.15052	0.012	T	0.19549	-1.0302	10	0.59425	D	0.04	.	12.9014	0.58126	0.0:0.0:1.0:0.0	.	33	Q05209	PTN12_HUMAN	I	33	ENSP00000248594:M33I	ENSP00000248594:M33I	M	+	3	0	PTPN12	77004898	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.907000	0.75724	1.975000	0.57531	0.556000	0.70494	ATG		0.617	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			Missense_Mutation
RAD52	5893	hgsc.bcm.edu;ucsc.edu	37	12	1042154	1042154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:1042154delA	ENST00000358495.3	-	2	209	c.71delT	c.(70-72)ttafs	p.L24fs	RAD52_ENST00000545564.1_Frame_Shift_Del_p.L24fs|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Frame_Shift_Del_p.L24fs|RAD52_ENST00000541619.1_Frame_Shift_Del_p.L24fs|RAD52_ENST00000430095.2_Frame_Shift_Del_p.L24fs|RAD52_ENST00000544742.1_Frame_Shift_Del_p.L24fs	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	24					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCCAAAGCATAACACTGAGCC	0.478								Homologous recombination																																									0													221.0	226.0	224.0					12																	1042154		2203	4300	6503	SO:0001589	frameshift_variant	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.71delT	12.37:g.1042154delA	ENSP00000351284:p.Leu24fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Frame_Shift_Del	DEL	ENST00000358495.3	37	CCDS8507.2																																																																																				0.478	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2		NM_134424	
RERE	473	hgsc.bcm.edu	37	1	8419867	8419868	+	Missense_Mutation	DNP	CG	CG	TT	rs538667090|rs147985313|rs557606465	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:8419867_8419868CG>TT	ENST00000337907.3	-	20	4208_4209	c.3574_3575CG>AA	c.(3574-3576)CGg>AAg	p.R1192K	RERE_ENST00000476556.1_Missense_Mutation_p.R638K|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.R924K|RERE_ENST00000400908.2_Missense_Mutation_p.R1192K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1192	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1191_R1192insKE(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ctcccgctcccgctccttctcc	0.683																																																	1	Insertion - In frame(1)	ovary(1)																																								SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3574_3575delinsTT	1.37:g.8419867_8419868delinsTT	ENSP00000338629:p.Arg1192Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation|Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.683	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			
SCEL	8796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	78130015	78130015	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:78130015C>G	ENST00000349847.3	+	2	89	c.5C>G	c.(4-6)tCc>tGc	p.S2C	SCEL_ENST00000377246.3_Missense_Mutation_p.S2C|SCEL_ENST00000535157.1_Missense_Mutation_p.S2C	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	2					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.S2C(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGCAGCATGTCCAATGTTACC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											136.0	136.0	136.0					13																	78130015		2203	4300	6503	SO:0001583	missense	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.5C>G	13.37:g.78130015C>G	ENSP00000302579:p.Ser2Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231628	0.58777	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.35048	1.37;1.33;1.37	5.78	5.78	0.91487	.	0.113750	0.40554	N	0.001071	T	0.61286	0.2335	M	0.74258	2.255	0.37429	D	0.913955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.66933	-0.5798	10	0.72032	D	0.01	-11.4139	15.8658	0.79063	0.0:1.0:0.0:0.0	.	2;2;2	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	C	2	ENSP00000437895:S2C;ENSP00000366454:S2C;ENSP00000302579:S2C	ENSP00000315127:S2C	S	+	2	0	SCEL	77028016	0.973000	0.33851	0.900000	0.35374	0.468000	0.32798	3.505000	0.53356	2.894000	0.99253	0.591000	0.81541	TCC		0.373	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2		NM_144777	
SF3B3	23450	hgsc.bcm.edu	37	16	70563083	70563084	+	Frame_Shift_Ins	INS	-	-	G	rs551334974|rs372670030	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:70563083_70563084insG	ENST00000302516.5	+	3	589_590	c.378_379insG	c.(379-381)gggfs	p.G127fs	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	127					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGATCCCAAAGGGCGAGCCGT	0.45														5	0.000998403	0.0015	0.0029	5008	,	,		19555	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001589	frameshift_variant	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.381dupG	16.37:g.70563086_70563086dupG	ENSP00000305790:p.Gly127fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Frame_Shift_Ins	INS	ENST00000302516.5	37	CCDS10894.1																																																																																				0.450	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426	
SLC25A36	55186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	140675511	140675511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:140675511delC	ENST00000324194.6	+	2	352	c.184delC	c.(184-186)cccfs	p.P62fs	SLC25A36_ENST00000507429.1_Frame_Shift_Del_p.P62fs|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000446041.2_Frame_Shift_Del_p.P62fs|SLC25A36_ENST00000453248.2_Frame_Shift_Del_p.P62fs			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	62					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGTAGTGTCTCCCGGACCTCT	0.418																																																	0													135.0	131.0	133.0					3																	140675511		2203	4300	6503	SO:0001589	frameshift_variant	55186			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.184delC	3.37:g.140675511delC	ENSP00000320688:p.Pro62fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Frame_Shift_Del	DEL	ENST00000324194.6	37	CCDS46927.1																																																																																				0.418	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1		NM_018155	
SLC28A1	9154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	85488371	85488371	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:85488371C>A	ENST00000286749.3	+	18	1980	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	SLC28A1_ENST00000538177.1_Missense_Mutation_p.F464L|SLC28A1_ENST00000394573.1_Missense_Mutation_p.F630L|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	630					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.F630L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ATCCAGAGTTCAGCCCAGAGG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											146.0	128.0	134.0					15																	85488371		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1890C>A	15.37:g.85488371C>A	ENSP00000286749:p.Phe630Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052173	0.19827	.	.	ENSG00000156222	ENST00000538177;ENST00000286749;ENST00000394573	T;T;T	0.02863	4.13;4.76;4.76	4.32	0.0196	0.14121	.	0.364135	0.29321	N	0.012481	T	0.03477	0.0100	M	0.73962	2.25	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.43556	-0.9384	10	0.18710	T	0.47	-19.6823	4.6768	0.12715	0.0:0.4489:0.3484:0.2026	.	464;630	B7Z3L6;O00337	.;S28A1_HUMAN	L	464;630;630	ENSP00000443752:F464L;ENSP00000286749:F630L;ENSP00000378074:F630L	ENSP00000286749:F630L	F	+	3	2	SLC28A1	83289375	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.444000	0.06854	0.142000	0.18901	-0.305000	0.09177	TTC		0.557	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			
SLCO1B3	28234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21028191	21028191	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:21028191G>C	ENST00000381545.3	+	9	969	c.750G>C	c.(748-750)aaG>aaC	p.K250N	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.K250N|LST3_ENST00000540229.1_Missense_Mutation_p.K250N|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.K250N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	250					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.K250N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TAACTCCTAAGGACTCTCGTT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											229.0	232.0	231.0					12																	21028191		2203	4300	6503	SO:0001583	missense	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.750G>C	12.37:g.21028191G>C	ENSP00000370956:p.Lys250Asn	Somatic		WXS	Illumina HiSeq	Phase_I	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	0.626	-0.819164	0.02776	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	3.92	-2.03	0.07365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.550502	0.20556	N	0.090009	T	0.17323	0.0416	N	0.16098	0.37	0.58432	D	0.999996	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.18561	0.015;0.022;0.022	T	0.06463	-1.0825	10	0.23302	T	0.38	.	1.6569	0.02783	0.1635:0.1247:0.3341:0.3777	.	250;250;250	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	N	250;250;250;250;74;250	ENSP00000442000:K250N;ENSP00000261196:K250N;ENSP00000370956:K250N;ENSP00000451758:K250N;ENSP00000443225:K74N;ENSP00000441269:K250N	ENSP00000441269:K250N	K	+	3	2	SLCO1B3;RP11-545J16.1	20919458	0.000000	0.05858	0.756000	0.31282	0.010000	0.07245	-0.735000	0.04888	-0.241000	0.09681	-1.255000	0.01485	AAG		0.373	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844	
SLITRK1	114798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	84454858	84454858	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:84454858G>A	ENST00000377084.2	-	1	1670	c.785C>T	c.(784-786)cCt>cTt	p.P262L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	262	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P262L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTTTTCAAAGGACACAAGTC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											69.0	73.0	71.0					13																	84454858		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.785C>T	13.37:g.84454858G>A	ENSP00000366288:p.Pro262Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949218	0.34377	.	.	ENSG00000178235	ENST00000377084	T	0.69040	-0.37	4.71	4.71	0.59529	Cysteine-rich flanking region, C-terminal (1);	0.122752	0.56097	D	0.000034	T	0.79299	0.4422	M	0.92459	3.31	0.58432	D	0.999999	P	0.39883	0.693	P	0.48901	0.594	T	0.80091	-0.1527	10	0.33141	T	0.24	-6.2402	12.3235	0.54997	0.0:0.0:0.8304:0.1696	.	262	Q96PX8	SLIK1_HUMAN	L	262	ENSP00000366288:P262L	ENSP00000366288:P262L	P	-	2	0	SLITRK1	83352859	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.017000	0.88712	2.456000	0.83038	0.555000	0.69702	CCT		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1		NM_052910	
SLX4	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3639200	3639200	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:3639200C>T	ENST00000294008.3	-	12	5079	c.4439G>A	c.(4438-4440)gGa>gAa	p.G1480E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1480	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.G1480E(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGTGCAGCTTCCTCGGATGGG	0.652								Direct reversal of damage																																									1	Substitution - Missense(1)	kidney(1)											98.0	115.0	109.0					16																	3639200		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4439G>A	16.37:g.3639200C>T	ENSP00000294008:p.Gly1480Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184063	0.78677	.	.	ENSG00000188827	ENST00000294008	T	0.02890	4.12	5.77	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.07728	0.0194	M	0.70275	2.135	0.23082	N	0.998325	D	0.57257	0.979	P	0.48063	0.565	T	0.09707	-1.0662	10	0.52906	T	0.07	.	14.4194	0.67173	0.0:0.8528:0.1472:0.0	.	1480	Q8IY92	SLX4_HUMAN	E	1480	ENSP00000294008:G1480E	ENSP00000294008:G1480E	G	-	2	0	SLX4	3579201	0.914000	0.31030	0.027000	0.17364	0.431000	0.31685	2.849000	0.48286	1.538000	0.49270	0.655000	0.94253	GGA		0.652	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444	
SOS1	6654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39285889	39285889	+	Silent	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:39285889G>T	ENST00000426016.1	-	4	356	c.270C>A	c.(268-270)gcC>gcA	p.A90A	SOS1_ENST00000402219.2_Silent_p.A90A|SOS1_ENST00000395038.2_Silent_p.A90A|SOS1_ENST00000428721.2_Silent_p.A33A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	90					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A90A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAGCTGATTGGGCATCAGCTA	0.343									Noonan syndrome																																								1	Substitution - coding silent(1)	kidney(1)											78.0	80.0	79.0					2																	39285889		2203	4299	6502	SO:0001819	synonymous_variant	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.270C>A	2.37:g.39285889G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	CCDS1802.1																																																																																				0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633	
ST6GAL1	6480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186761061	186761061	+	Silent	SNP	G	G	A	rs141692826	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:186761061G>A	ENST00000169298.3	+	4	1244	c.570G>A	c.(568-570)gcG>gcA	p.A190A	ST6GAL1_ENST00000448044.1_Silent_p.A190A|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	190					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)	p.A190A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTCGTCAGCGGGATCTCTGA	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		17576	0.001		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G	,,	1,4405		0,1,2202	134.0	118.0	123.0		570,570,	-11.2	0.0	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	ST6GAL1	NM_003032.2,NM_173216.2,NM_173217.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	190/407,190/407,	186761061	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.570G>A	3.37:g.186761061G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	CCDS3285.1																																																																																				0.522	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1		NM_173216	
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	AGAGCTCC	AGAGCTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																																	2	Deletion - Frameshift(2)	large_intestine(1)|central_nervous_system(1)								96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						442582					7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC		Somatic		WXS	Illumina GAIIx	Phase_I	A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Frame_Shift_Del	DEL	ENST00000423186.1	37																																																																																					0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2		NM_001025202	
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34042650	34042650	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr21:34042650T>C	ENST00000322229.7	-	14	1758	c.1759A>G	c.(1759-1761)Att>Gtt	p.I587V	SYNJ1_ENST00000357345.3_Missense_Mutation_p.I587V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.I626V|SYNJ1_ENST00000382491.3_Missense_Mutation_p.I582V|SYNJ1_ENST00000382499.2_Missense_Mutation_p.I626V			O43426	SYNJ1_HUMAN	synaptojanin 1	587	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.I587V(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAAACCAATTGCAAATATA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					21																	34042650		2201	4298	6499	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1759A>G	21.37:g.34042650T>C	ENSP00000322234:p.Ile587Val	Somatic		WXS	Illumina HiSeq	Phase_I	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132726	0.56828	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	N	0.12746	0.255	0.80722	D	1	P;P;P;P;P	0.49358	0.891;0.865;0.923;0.754;0.857	P;P;P;P;P	0.55713	0.782;0.669;0.47;0.669;0.775	D	0.91028	0.4862	10	0.22109	T	0.4	.	15.6063	0.76676	0.0:0.0:0.0:1.0	.	582;626;587;587;587	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	582;587;626;626;587;582	ENSP00000371931:I582V;ENSP00000349903:I587V;ENSP00000371939:I626V;ENSP00000409667:I626V;ENSP00000322234:I587V;ENSP00000413649:I582V	ENSP00000322234:I587V	I	-	1	0	SYNJ1	32964521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.613000	0.82986	2.098000	0.63641	0.533000	0.62120	ATT		0.353	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
TAF1L	138474	broad.mit.edu;hgsc.bcm.edu	37	9	32633474	32633474	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:32633474A>T	ENST00000242310.4	-	1	2193	c.2104T>A	c.(2104-2106)Tat>Aat	p.Y702N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	702					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Y702N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTCACTATATTCTGCAAGA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											170.0	161.0	164.0					9																	32633474		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2104T>A	9.37:g.32633474A>T	ENSP00000418379:p.Tyr702Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543658	0.45280	.	.	ENSG00000122728	ENST00000242310	T	0.24723	1.84	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.92604	3.325	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.52771	-0.8531	10	0.87932	D	0	.	5.4928	0.16785	0.9999:0.0:1.0E-4:0.0	.	702	Q8IZX4	TAF1L_HUMAN	N	702	ENSP00000418379:Y702N	ENSP00000418379:Y702N	Y	-	1	0	TAF1L	32623474	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	5.876000	0.69667	0.530000	0.28619	0.164000	0.16699	TAT		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			
TCEA2	6919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62698282	62698282	+	Silent	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:62698282G>C	ENST00000343484.5	+	3	319	c.150G>C	c.(148-150)ggG>ggC	p.G50G	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Silent_p.G23G|TCEA2_ENST00000395053.3_Silent_p.G50G	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	50	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G50G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCCGAGTCGGGATGTCTGTCA	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	60.0	65.0					20																	62698282		2203	4300	6503	SO:0001819	synonymous_variant	6919			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.150G>C	20.37:g.62698282G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNM1|Q8TD37|Q8TD38	Silent	SNP	ENST00000343484.5	37	CCDS13553.1																																																																																				0.622	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2		NM_198723	
TFEB	7942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41658461	41658461	+	Silent	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:41658461G>A	ENST00000230323.4	-	4	709	c.408C>T	c.(406-408)ggC>ggT	p.G136G	TFEB_ENST00000420312.1_Intron|TFEB_ENST00000373033.1_Silent_p.G136G|TFEB_ENST00000394283.1_Silent_p.G136G|TFEB_ENST00000358871.2_Silent_p.G150G|TFEB_ENST00000403298.4_Silent_p.G136G	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	136				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). {ECO:0000305}.	autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G136G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GAGCACTGTTGCCAGCGGAGG	0.647			T	ALPHA	renal (childhood epithelioid)																																			Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	1	Substitution - coding silent(1)	kidney(1)											43.0	43.0	43.0					6																	41658461		2203	4300	6503	SO:0001819	synonymous_variant	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.408C>T	6.37:g.41658461G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	CCDS4858.1																																																																																				0.647	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			
THSD4	79875	hgsc.bcm.edu;ucsc.edu	37	15	71952920	71952920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:71952920delG	ENST00000355327.3	+	8	1338	c.1204delG	c.(1204-1206)gggfs	p.G402fs	THSD4_ENST00000357769.4_Frame_Shift_Del_p.G42fs|THSD4_ENST00000261862.6_Frame_Shift_Del_p.G402fs|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	402					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACAAATGTGGGGTGTGTGG	0.522																																																	0													173.0	178.0	176.0					15																	71952920		1982	4173	6155	SO:0001589	frameshift_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1204delG	15.37:g.71952920delG	ENSP00000347484:p.Gly402fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Frame_Shift_Del	DEL	ENST00000355327.3	37	CCDS10238.2																																																																																				0.522	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		NM_024817	
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138033500	138033500	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:138033500C>A	ENST00000409968.1	+	12	2582	c.2404C>A	c.(2404-2406)Cca>Aca	p.P802T	THSD7B_ENST00000272643.3_Missense_Mutation_p.P802T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P771T|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	802	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.P771T(1)|p.P802T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGTGGAAGCCACAGAAATG	0.423																																																	2	Substitution - Missense(2)	kidney(2)											78.0	83.0	81.0					2																	138033500		1896	4116	6012	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2404C>A	2.37:g.138033500C>A	ENSP00000387145:p.Pro802Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410180	0.01145	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.19532	2.65;2.53;2.14	5.9	1.7	0.24286	.	0.343151	0.28871	U	0.013863	T	0.04861	0.0131	N	0.01257	-0.925	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26224	-1.0109	10	0.07990	T	0.79	.	4.513	0.11921	0.2156:0.3861:0.3246:0.0737	.	802;771	Q9C0I4;C9JKN6	THS7B_HUMAN;.	T	802;802;771	ENSP00000387145:P802T;ENSP00000272643:P802T;ENSP00000413841:P771T	ENSP00000272643:P802T	P	+	1	0	THSD7B	137749970	0.066000	0.20996	0.887000	0.34795	0.412000	0.31113	0.507000	0.22675	0.841000	0.35020	-0.257000	0.10917	CCA		0.423	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9	
TINF2	26277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24709106	24709106	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:24709106A>T	ENST00000267415.7	-	9	1594	c.1253T>A	c.(1252-1254)tTt>tAt	p.F418Y	TINF2_ENST00000540705.1_Missense_Mutation_p.F383Y|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	418					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)	p.F418Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CAAGGTGTCAAACTTTGTCTT	0.478									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																								1	Substitution - Missense(1)	kidney(1)											114.0	116.0	115.0					14																	24709106		1896	4119	6015	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1253T>A	14.37:g.24709106A>T	ENSP00000267415:p.Phe418Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779006	0.31502	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.85411	-1.98;-1.98	5.65	3.25	0.37280	.	0.076893	0.49916	N	0.000135	T	0.77994	0.4214	L	0.48362	1.52	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.22601	0.04;0.04	T	0.70099	-0.4965	10	0.62326	D	0.03	-9.0864	4.8544	0.13552	0.7485:0.0:0.0878:0.1637	.	383;418	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	Y	418;383	ENSP00000267415:F418Y;ENSP00000442154:F383Y	ENSP00000267415:F418Y	F	-	2	0	TINF2	23778946	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	2.138000	0.42140	0.385000	0.24970	0.460000	0.39030	TTT		0.478	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			
TMEM8A	58986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	425200	425200	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:425200T>A	ENST00000431232.2	-	8	1532	c.1372A>T	c.(1372-1374)Atc>Ttc	p.I458F	TMEM8A_ENST00000250930.3_Missense_Mutation_p.I265F|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	458					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.I458F(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TAGGGGATGATGAGGTTGGCC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											92.0	82.0	86.0					16																	425200		2201	4300	6501	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1372A>T	16.37:g.425200T>A	ENSP00000401338:p.Ile458Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222898	0.58668	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000448854	T;T;T	0.44881	1.92;1.51;0.91	4.31	-2.57	0.06248	.	0.721517	0.12403	N	0.471942	T	0.34279	0.0892	M	0.67953	2.075	0.09310	N	1	D	0.59357	0.985	P	0.44647	0.456	T	0.41556	-0.9502	10	0.10377	T	0.69	-5.845	6.7322	0.23388	0.1216:0.3864:0.0:0.492	.	458	Q9HCN3	TMM8A_HUMAN	F	458;265;6	ENSP00000401338:I458F;ENSP00000250930:I265F;ENSP00000401931:I6F	ENSP00000250930:I265F	I	-	1	0	TMEM8A	365201	0.000000	0.05858	0.890000	0.34922	0.990000	0.78478	0.190000	0.17057	-0.297000	0.08934	0.459000	0.35465	ATC		0.627	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2		NM_021259	
TRAF7	84231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2220688	2220688	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:2220688C>G	ENST00000326181.6	+	5	437	c.305C>G	c.(304-306)tCt>tGt	p.S102C		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	102					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S102C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TCCAGCATGTCTCTGCGCTCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											51.0	43.0	46.0					16																	2220688		2186	4294	6480	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.305C>G	16.37:g.2220688C>G	ENSP00000318944:p.Ser102Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876590	0.72180	.	.	ENSG00000131653	ENST00000326181	T	0.53857	0.6	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.56865	0.808	T	0.61637	-0.7022	10	0.87932	D	0	-31.9817	16.9802	0.86325	0.0:1.0:0.0:0.0	.	102	Q6Q0C0	TRAF7_HUMAN	C	102	ENSP00000318944:S102C	ENSP00000318944:S102C	S	+	2	0	TRAF7	2160689	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.575000	0.82447	2.505000	0.84491	0.561000	0.74099	TCT		0.687	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1		NM_032271	
TRIM63	84676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26385106	26385106	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:26385106A>C	ENST00000374272.3	-	5	744	c.606T>G	c.(604-606)agT>agG	p.S202R	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	202	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202R(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTACCTGGTGACTGTTCTCCT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											157.0	152.0	154.0					1																	26385106		2203	4300	6503	SO:0001583	missense	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.606T>G	1.37:g.26385106A>C	ENSP00000363390:p.Ser202Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.900010	0.52227	.	.	ENSG00000158022	ENST00000374272	T	0.48836	0.8	5.5	-6.28	0.02020	.	0.120218	0.85682	D	0.000000	T	0.58409	0.2120	M	0.75777	2.31	0.43080	D	0.994733	P	0.43857	0.819	P	0.52710	0.707	T	0.68689	-0.5342	10	0.59425	D	0.04	.	20.3655	0.98876	0.2033:0.0:0.7967:0.0	.	202	Q969Q1	TRI63_HUMAN	R	202	ENSP00000363390:S202R	ENSP00000363390:S202R	S	-	3	2	TRIM63	26257693	0.980000	0.34600	0.944000	0.38274	0.974000	0.67602	0.184000	0.16939	-1.128000	0.02922	-0.375000	0.07067	AGT		0.507	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1		NM_032588	
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43307885	43307885	+	Splice_Site	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:43307885C>A	ENST00000290650.4	-	29	3288		c.e29+1		UBR1_ENST00000382177.2_Splice_Site|UBR1_ENST00000568782.1_Splice_Site	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1						cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTTTATTTTACCTCTCTTCCT	0.358																																																	1	Unknown(1)	kidney(1)											146.0	151.0	149.0					15																	43307885		2203	4299	6502	SO:0001630	splice_region_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3209+1G>T	15.37:g.43307885C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071804	0.76301	.	.	ENSG00000159459	ENST00000290650	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR1	41095177	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.336000	0.72954	2.890000	0.99128	0.655000	0.94253	.		0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916	Intron
HNRNPKP3	399881	broad.mit.edu	37	11	43283909	43283909	+	RNA	SNP	G	G	A	rs143255343	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:43283909G>A	ENST00000511537.1	-	0	1026					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		GCCACTGTCCGCTGCATAGGA	0.413													G|||	5	0.000998403	0.0	0.0	5008	,	,		20259	0.005		0.0	False		,,,				2504	0.0																0																																												0					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283909G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000511537.1	37																																																																																					0.413	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1		NR_033868	
USP12	219333	broad.mit.edu;hgsc.bcm.edu	37	13	27680064	27680064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:27680064G>T	ENST00000282344.6	-	3	403	c.147C>A	c.(145-147)taC>taA	p.Y49*		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	49	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y49*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTGAATTGCAGTAGCAGGTAT	0.368																																					Ovarian(37;808 911 7590 44442 44991)												1	Substitution - Nonsense(1)	kidney(1)											40.0	39.0	39.0					13																	27680064		2203	4300	6503	SO:0001587	stop_gained	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.147C>A	13.37:g.27680064G>T	ENSP00000282344:p.Tyr49*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0X0|Q5VZV3|Q8TC49	Nonsense_Mutation	SNP	ENST00000282344.6	37	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	39	7.604286	0.98384	.	.	ENSG00000152484	ENST00000282344	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4077	19.5544	0.95335	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000282344:Y49X	Y	-	3	2	USP12	26578064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.847000	0.86896	2.688000	0.91661	0.555000	0.69702	TAC		0.368	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1		NM_182488	
VHL	7428	hgsc.bcm.edu	37	3	10183752	10183752	+	Missense_Mutation	SNP	T	T	G	rs5030803		TCGA-B8-4621-01A-01D-2102-10	TCGA-B8-4621-10A-01W-1528-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina GAIIx	7b65cc53-f34c-4b46-afd9-55f08baac99f	fb9db263-63a1-45e6-94af-843d0e8225b0	g.chr3:10183752T>G	ENST00000256474.2	+	1	1061	c.221T>G	c.(220-222)gTc>gGc	p.V74G	VHL_ENST00000345392.2_Missense_Mutation_p.V74G|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		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.V74D(8)|p.V74A(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74>?(1)|p.V74fs*77(1)|p.V74fs*82(1)|p.V74fs*51(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)		CCCTCCCAGGTCATCTTCTGC	0.721		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"""	18	Substitution - Missense(9)|Deletion - Frameshift(6)|Complex - deletion inframe(1)|Deletion - In frame(1)|Complex(1)	kidney(17)|soft_tissue(1)	GRCh37	CM961417	VHL	M	rs5030803						10.0	14.0	12.0					3																	10183752		2163	4233	6396	SO:0001583	missense	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.221T>G	3.37:g.10183752T>G	ENSP00000256474:p.Val74Gly	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806068	0.90623	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99842	-7.1;-7.1	5.34	4.16	0.48862	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.120953	0.56097	N	0.000027	D	0.99315	0.9760	M	0.73962	2.25	0.54753	D	0.999986	B;P	0.34629	0.079;0.46	B;B	0.34385	0.051;0.181	D	0.98470	1.0600	10	0.87932	D	0	-6.556	10.613	0.45434	0.0:0.0:0.1618:0.8382	rs5030803	74;74	P40337-2;P40337	.;VHL_HUMAN	G	74	ENSP00000256474:V74G;ENSP00000344757:V74G	ENSP00000256474:V74G	V	+	2	0	VHL	10158752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.431000	0.52814	0.851000	0.35264	0.450000	0.29827	GTC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VRK2	7444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	58350342	58350342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:58350342delC	ENST00000435505.2	+	11	1395	c.650delC	c.(649-651)accfs	p.T217fs	VRK2_ENST00000440705.2_Frame_Shift_Del_p.T194fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.T217fs|VRK2_ENST00000340157.4_Frame_Shift_Del_p.T217fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.T217fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATAGAGTTTACCAGCTTGGAT	0.393																																																	0													107.0	104.0	105.0					2																	58350342		2203	4300	6503	SO:0001589	frameshift_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.650delC	2.37:g.58350342delC	ENSP00000408002:p.Thr217fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Frame_Shift_Del	DEL	ENST00000435505.2	37	CCDS1859.1																																																																																				0.393	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2		NM_006296	
VRK2	7444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	58358987	58358987	+	Silent	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:58358987C>T	ENST00000435505.2	+	12	1466	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	VRK2_ENST00000440705.2_Silent_p.L218L|VRK2_ENST00000417641.2_Silent_p.L241L|VRK2_ENST00000340157.4_Silent_p.L241L|VRK2_ENST00000412104.2_Silent_p.L241L			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L241L(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTACTGCATGCTGCGGTGGTT	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	123.0	129.0					2																	58358987		2203	4300	6503	SO:0001819	synonymous_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.721C>T	2.37:g.58358987C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	CCDS1859.1																																																																																				0.458	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2		NM_006296	
WDR87	83889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38383368	38383368	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:38383368T>C	ENST00000303868.5	-	4	3082	c.2858A>G	c.(2857-2859)cAt>cGt	p.H953R	WDR87_ENST00000447313.2_Missense_Mutation_p.H992R	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	953								p.H953R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GGCAAAAAGATGAGTAATCAT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											215.0	172.0	185.0					19																	38383368		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2858A>G	19.37:g.38383368T>C	ENSP00000368025:p.His953Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	T	9.114	1.007348	0.19199	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.63580	-0.05;-0.05	5.27	1.88	0.25563	.	0.252851	0.28114	N	0.016541	T	0.40272	0.1110	L	0.31664	0.95	0.23227	N	0.998083	B;B	0.14012	0.009;0.009	B;B	0.15052	0.012;0.012	T	0.11397	-1.0589	10	0.18276	T	0.48	-13.6003	3.028	0.06097	0.179:0.1936:0.0:0.6273	.	953;992	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	R	992;953	ENSP00000405012:H992R;ENSP00000368025:H953R	ENSP00000368025:H953R	H	-	2	0	WDR87	43075208	0.999000	0.42202	1.000000	0.80357	0.856000	0.48823	1.190000	0.32126	0.339000	0.23719	0.448000	0.29417	CAT		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2		XM_940478	
XDH	7498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	31571778	31571778	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:31571778G>T	ENST00000379416.3	-	27	3086	c.3038C>A	c.(3037-3039)cCt>cAt	p.P1013H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1013					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.P1013H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ATTCAGAAAAGGAACTGTAAA	0.383																																					Colon(66;682 1445 30109 40147)												1	Substitution - Missense(1)	kidney(1)											98.0	98.0	98.0					2																	31571778		2203	4300	6503	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3038C>A	2.37:g.31571778G>T	ENSP00000368727:p.Pro1013His	Somatic		WXS	Illumina HiSeq	Phase_I	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690651	0.29962	.	.	ENSG00000158125	ENST00000379416	T	0.39787	1.06	5.85	4.05	0.47172	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.798245	0.12585	N	0.456043	T	0.42944	0.1225	M	0.65975	2.015	0.22693	N	0.998845	B	0.16166	0.016	B	0.17433	0.018	T	0.34675	-0.9819	10	0.45353	T	0.12	.	10.9561	0.47358	0.0675:0.0:0.8023:0.1302	.	1013	P47989	XDH_HUMAN	H	1013	ENSP00000368727:P1013H	ENSP00000368727:P1013H	P	-	2	0	XDH	31425282	0.104000	0.21937	0.543000	0.28128	0.939000	0.58152	1.750000	0.38329	0.815000	0.34398	0.561000	0.74099	CCT		0.383	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379	
ZDHHC1	29800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67440199	67440199	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:67440199C>A	ENST00000348579.2	-	3	497	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	52					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q52H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		AGGCCACAATCTGGAGCGGGT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											46.0	34.0	38.0					16																	67440199		2196	4297	6493	SO:0001583	missense	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.156G>T	16.37:g.67440199C>A	ENSP00000340299:p.Gln52His	Somatic		WXS	Illumina HiSeq	Phase_I	O15461	Missense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857277	0.91433	.	.	ENSG00000159714	ENST00000348579	T	0.37411	1.2	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000007	T	0.65048	0.2654	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70695	-0.4801	10	0.87932	D	0	.	17.8255	0.88664	0.0:1.0:0.0:0.0	.	52	Q8WTX9	ZDHC1_HUMAN	H	52	ENSP00000340299:Q52H	ENSP00000340299:Q52H	Q	-	3	2	ZDHHC1	65997700	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.463000	0.83235	0.561000	0.74099	CAG		0.657	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1		NM_013304	
ZNF184	7738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27420285	27420285	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:27420285T>A	ENST00000211936.6	-	6	1337	c.1053A>T	c.(1051-1053)gaA>gaT	p.E351D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E351D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E351D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTCTGATGTTCCATAAAGT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											52.0	52.0	52.0					6																	27420285		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1053A>T	6.37:g.27420285T>A	ENSP00000211936:p.Glu351Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670830	0.47781	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.19394	2.15;2.15	5.12	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000162	T	0.04452	0.0122	N	0.25957	0.775	0.35919	D	0.831665	B	0.09022	0.002	B	0.06405	0.002	T	0.27839	-1.0062	10	0.13108	T	0.6	.	8.3225	0.32136	0.0:0.0957:0.0:0.9043	.	351	Q99676	ZN184_HUMAN	D	351;351;351;39	ENSP00000211936:E351D;ENSP00000366636:E351D	ENSP00000211936:E351D	E	-	3	2	ZNF184	27528264	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.174000	0.03105	0.983000	0.38602	0.455000	0.32223	GAA		0.398	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1		NM_007149	
ZNF195	7748	broad.mit.edu;ucsc.edu	37	11	3380467	3380467	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:3380467A>G	ENST00000399602.4	-	6	1897	c.1771T>C	c.(1771-1773)Tca>Cca	p.S591P	ZNF195_ENST00000005082.9_Missense_Mutation_p.S568P|ZNF195_ENST00000343338.7_Missense_Mutation_p.S523P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.S523P|ZNF195_ENST00000526601.1_Missense_Mutation_p.S572P|ZNF195_ENST00000354599.6_Missense_Mutation_p.S519P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S519P(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATAAGGTTTGAGGACTGGGTA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											92.0	96.0	95.0					11																	3380467		2056	4222	6278	SO:0001583	missense	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1771T>C	11.37:g.3380467A>G	ENSP00000382511:p.Ser591Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	a	12.29	1.894176	0.33442	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.01705	4.68;4.68;4.68;4.68;4.68;4.68	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	M	0.85041	2.73	0.09310	N	1	P;B;D;B;D;B	0.64830	0.782;0.086;0.994;0.14;0.989;0.14	P;B;P;B;P;B	0.58391	0.838;0.013;0.81;0.02;0.651;0.02	T	0.18304	-1.0341	9	0.72032	D	0.01	.	4.5644	0.12175	1.0:0.0:0.0:0.0	.	572;450;568;523;591;519	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	519;591;523;523;568;572	ENSP00000346613:S519P;ENSP00000382511:S591P;ENSP00000344483:S523P;ENSP00000387998:S523P;ENSP00000005082:S568P;ENSP00000435828:S572P	ENSP00000005082:S568P	S	-	1	0	ZNF195	3337043	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	-1.131000	0.03238	0.535000	0.28714	0.254000	0.18369	TCA		0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			
ZNF233	353355	hgsc.bcm.edu	37	19	44778797	44778797	+	Frame_Shift_Del	DEL	T	T	-	rs386809644|rs386809645|rs2884015	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:44778797delT	ENST00000391958.2	+	5	2111	c.1984delT	c.(1984-1986)ttgfs	p.L662fs	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Frame_Shift_Del_p.L644fs|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TAAGAGTTCGTTGTCTTCAGA	0.413																																																	0									,	2463,1797		712,1039,379	70.0	79.0	75.0		,	-8.4	0.0	19	dbSNP_129	61	1034,7216		69,896,3160	no	frameshift,frameshift	ZNF233	NM_181756.2,NM_001207005.1	,	781,1935,3539	A1A1,A1R,RR		12.5333,42.1831,27.9536	,	,	44778797	3497,9013	2201	4300	6501	SO:0001589	frameshift_variant	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1984delT	19.37:g.44778797delT	ENSP00000375820:p.Leu662fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	CCDS33047.1																																																																																				0.413	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1		NM_181756	
ZNF595	152687	broad.mit.edu;hgsc.bcm.edu	37	4	86237	86237	+	3'UTR	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr4:86237G>A	ENST00000339368.6	+	0	1046							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATACTGGAGAGAAACCCTACA	0.378																																																	0													34.0	37.0	36.0					4																	86237		2125	4256	6381	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1043G>A	4.37:g.86237G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000339368.6	37																																																																																					0.378	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2		NM_182524	
ZNF608	57507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	123982880	123982880	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:123982880A>G	ENST00000306315.5	-	4	3632	c.3197T>C	c.(3196-3198)gTg>gCg	p.V1066A	ZNF608_ENST00000504926.1_Missense_Mutation_p.V639A|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1066							metal ion binding (GO:0046872)	p.V1066A(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTGTGTGATCACCGACTGGTG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											89.0	81.0	84.0					5																	123982880		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3197T>C	5.37:g.123982880A>G	ENSP00000307746:p.Val1066Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447366	0.43429	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	.	0.057079	0.64402	D	0.000001	T	0.49712	0.1573	L	0.58428	1.81	0.46203	D	0.998921	B	0.24576	0.106	B	0.20384	0.029	T	0.43556	-0.9384	10	0.25106	T	0.35	-22.1069	16.0213	0.80499	1.0:0.0:0.0:0.0	.	1066	Q9ULD9	ZN608_HUMAN	A	639;1066	ENSP00000427657:V639A;ENSP00000307746:V1066A	ENSP00000307746:V1066A	V	-	2	0	ZNF608	124010779	1.000000	0.71417	0.901000	0.35422	0.704000	0.40688	7.291000	0.78721	2.239000	0.73571	0.523000	0.50628	GTG		0.483	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432	
ZNF816	125893	hgsc.bcm.edu	37	19	53454729	53454729	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:53454729delT	ENST00000357666.4	-	5	599	c.299delA	c.(298-300)gatfs	p.D100fs	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Frame_Shift_Del_p.D100fs|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	100					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGCAAAAATCTCCAATGTG	0.388																																																	0													110.0	113.0	112.0					19																	53454729		2203	4300	6503	SO:0001589	frameshift_variant	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.299delA	19.37:g.53454729delT	ENSP00000350295:p.Asp100fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7H5|Q3KR39|Q659B3	Frame_Shift_Del	DEL	ENST00000357666.4	37	CCDS33096.1																																																																																				0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1		NM_001031665	
