#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
ADNP2	22850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77894266	77894266	+	Missense_Mutation	SNP	C	C	A	rs571198421		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr18:77894266C>A	ENST00000262198.4	+	4	1425	c.970C>A	c.(970-972)Cct>Act	p.P324T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	324	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P324T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCATTCCCCCCCTGCTGCTGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											68.0	68.0	68.0					18																	77894266		2203	4300	6503	SO:0001583	missense	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.970C>A	18.37:g.77894266C>A	ENSP00000262198:p.Pro324Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	4.306	0.055996	0.08291	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.42	1.62	0.23740	.	0.190603	0.35585	N	0.003108	T	0.21186	0.0510	L	0.29908	0.895	0.09310	N	1	P	0.38827	0.649	B	0.39258	0.295	T	0.08046	-1.0741	8	.	.	.	-11.4696	3.1484	0.06479	0.1251:0.554:0.1209:0.2	.	324	Q6IQ32	ADNP2_HUMAN	T	324	.	.	P	+	1	0	ADNP2	75995257	0.494000	0.26043	0.000000	0.03702	0.007000	0.05969	1.534000	0.36051	0.118000	0.18165	-0.133000	0.14855	CCT		0.627	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1		NM_014913	
ANGPT1	284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	108334357	108334357	+	Splice_Site	SNP	C	C	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr8:108334357C>G	ENST00000520734.1	-	3	261		c.e3-1		ANGPT1_ENST00000520052.1_Splice_Site|ANGPT1_ENST00000518386.1_5'Flank			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCTAATAAACTACAAGGAAG	0.294																																																	2	Unknown(2)	ovary(1)|kidney(1)											77.0	73.0	74.0					8																	108334357		2203	4300	6503	SO:0001630	splice_region_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.25-1G>C	8.37:g.108334357C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYA0	Splice_Site	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	16.61	3.171316	0.57584	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820	.	.	.	5.77	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5463	0.68032	0.0:0.93:0.0:0.07	.	.	.	.	.	-1	.	.	.	-	.	.	ANGPT1	108403533	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.174000	0.77620	1.443000	0.47586	0.655000	0.94253	.		0.294	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2		NM_001146, NM_139290	Intron
ATP12A	479	broad.mit.edu;ucsc.edu	37	13	25276072	25276072	+	Splice_Site	SNP	G	G	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr13:25276072G>T	ENST00000381946.3	+	14	2048		c.e14-1		ATP12A_ENST00000218548.6_Splice_Site|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.?(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CTTTGCTCTAGGTTATTATGG	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)												1	Unknown(1)	kidney(1)											219.0	198.0	205.0					13																	25276072		2203	4300	6503	SO:0001630	splice_region_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1882-1G>T	13.37:g.25276072G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844314	0.51164	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.6	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9275	0.63972	0.0:0.0:0.8467:0.1533	.	.	.	.	.	-1	.	.	.	+	.	.	ATP12A	24174072	1.000000	0.71417	0.868000	0.34077	0.491000	0.33493	7.788000	0.85771	1.468000	0.48064	0.563000	0.77884	.		0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676	Intron
C11orf57	55216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111946306	111946306	+	Missense_Mutation	SNP	G	G	A	rs200897426		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr11:111946306G>A	ENST00000280352.9	+	2	644	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	PIH1D2_ENST00000528775.1_5'Flank|C11orf57_ENST00000530104.1_Missense_Mutation_p.R3Q|PIH1D2_ENST00000532211.1_5'Flank|PIH1D2_ENST00000521853.2_5'Flank|C11orf57_ENST00000393047.3_Missense_Mutation_p.R3Q|PIH1D2_ENST00000530641.1_5'Flank|PIH1D2_ENST00000280350.4_5'Flank|C11orf57_ENST00000532163.1_5'UTR|C11orf57_ENST00000420986.2_Missense_Mutation_p.R3Q|PIH1D2_ENST00000431456.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	3								p.R3Q(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAATGTCCCGGATTCCACTG	0.388																																																	1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG,GLN/ARG,GLN/ARG	0,3716		0,0,1858	76.0	70.0	72.0		8,8,8	5.2	1.0	11		72	2,8192		0,2,4095	yes	missense,missense,missense	C11orf57	NM_001082969.1,NM_001082970.1,NM_018195.3	43,43,43	0,2,5953	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging,probably-damaging,probably-damaging	3/294,3/293,3/294	111946306	2,11908	1858	4097	5955	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.8G>A	11.37:g.111946306G>A	ENSP00000339076:p.Arg3Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582380	0.65992	0.0	2.44E-4	ENSG00000150776	ENST00000420986;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047	.	.	.	6.08	5.16	0.70880	.	0.091438	0.42172	U	0.000757	T	0.36193	0.0958	M	0.61703	1.905	0.31309	N	0.687414	P;P;P	0.48350	0.909;0.681;0.681	B;B;B	0.33960	0.116;0.173;0.173	T	0.57585	-0.7786	9	0.66056	D	0.02	-0.649	12.9907	0.58616	0.1265:0.0:0.8735:0.0	.	3;3;3	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	Q	3	.	ENSP00000339076:R3Q	R	+	2	0	C11orf57	111451516	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.610000	0.61155	2.894000	0.99253	0.591000	0.81541	CGG		0.388	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1		NM_018195	
CCDC171	203238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15777711	15777711	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr9:15777711A>G	ENST00000380701.3	+	19	3113	c.2785A>G	c.(2785-2787)Agg>Ggg	p.R929G	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Missense_Mutation_p.R929G	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	929								p.R196G(1)|p.R929G(1)									GCACAGTAGCAGGAGTATTAC	0.408																																																	2	Substitution - Missense(2)	kidney(2)											81.0	83.0	82.0					9																	15777711		2203	4300	6503	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.2785A>G	9.37:g.15777711A>G	ENSP00000370077:p.Arg929Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556712	0.27827	.	.	ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701	T;T	0.15256	2.44;2.44	5.32	-0.347	0.12617	.	0.209862	0.48286	D	0.000189	T	0.11110	0.0271	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18310	0.027;0.016;0.027	B;B;B	0.26416	0.069;0.031;0.069	T	0.33854	-0.9852	10	0.22109	T	0.4	-3.0898	9.8272	0.40919	0.392:0.4936:0.0:0.1144	.	937;196;929	B7ZM22;A6NK04;Q6TFL3	.;.;CI093_HUMAN	G	929;196;929	ENSP00000297641:R929G;ENSP00000370077:R929G	ENSP00000297641:R929G	R	+	1	2	C9orf93	15767711	0.877000	0.30153	0.227000	0.23927	0.973000	0.67179	0.920000	0.28705	0.002000	0.14630	0.528000	0.53228	AGG		0.408	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4		NM_173550	
BRINP1	1620	broad.mit.edu;hgsc.bcm.edu	37	9	121929960	121929960	+	Missense_Mutation	SNP	T	T	A	rs200320353		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr9:121929960T>A	ENST00000265922.3	-	8	2149	c.1688A>T	c.(1687-1689)tAt>tTt	p.Y563F	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	563					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.Y563F(1)									GGGGTTGACATAGACAAAGAA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											42.0	41.0	42.0					9																	121929960		2203	4300	6503	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1688A>T	9.37:g.121929960T>A	ENSP00000265922:p.Tyr563Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.16743	2.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.48642	1.525	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.02339	-1.1174	10	0.62326	D	0.03	-13.623	15.8802	0.79197	0.0:0.0:0.0:1.0	.	563	O60477	DBC1_HUMAN	F	563	ENSP00000265922:Y563F	ENSP00000265922:Y563F	Y	-	2	0	DBC1	120969781	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.109000	0.71528	2.145000	0.66743	0.533000	0.62120	TAT		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2		NM_014618	
DDA1	79016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17425185	17425185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:17425185C>A	ENST00000359866.4	+	3	247	c.123C>A	c.(121-123)taC>taA	p.Y41*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	41								p.Y41*(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCCGCGAGTACCCGTCTGAAC	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											102.0	80.0	87.0					19																	17425185		2203	4300	6503	SO:0001587	stop_gained	79016			BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.123C>A	19.37:g.17425185C>A	ENSP00000352928:p.Tyr41*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000359866.4	37	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110582	0.77210	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.69	3.42	0.39159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8439	11.0233	0.47730	0.0:0.8894:0.0:0.1106	.	.	.	.	X	41	.	ENSP00000352928:Y41X	Y	+	3	2	DDA1	17286185	0.973000	0.33851	0.988000	0.46212	0.495000	0.33615	0.135000	0.15952	2.157000	0.67596	0.561000	0.74099	TAC		0.617	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1		NM_024050	
DVL1	1855	broad.mit.edu	37	1	1275427	1275427	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:1275427C>A	ENST00000378888.5	-	8	1184	c.900G>T	c.(898-900)atG>atT	p.M300I	DVL1_ENST00000378891.5_Missense_Mutation_p.M300I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	300	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.M300I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGCAGCAACATGTCGCCGG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											35.0	42.0	40.0					1																	1275427		2203	4297	6500	SO:0001583	missense	1855			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.900G>T	1.37:g.1275427C>A	ENSP00000368166:p.Met300Ile	Somatic		WXS	Illumina GAIIx	Phase_I	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37		.	.	.	.	.	.	.	.	.	.	C	16.34	3.095593	0.56075	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.25579	1.79;1.79	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.36672	1.1	0.80722	D	1	P;P	0.45531	0.86;0.605	P;P	0.58721	0.844;0.6	T	0.35748	-0.9776	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	300;300	O14640;O14640-2	DVL1_HUMAN;.	I	300	ENSP00000368169:M300I;ENSP00000368166:M300I	ENSP00000368166:M300I	M	-	3	0	DVL1	1265290	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	ATG		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1		NM_004421	
EXO5	64789	broad.mit.edu;ucsc.edu	37	1	40980259	40980259	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:40980259T>G	ENST00000372703.1	+	2	1117	c.43T>G	c.(43-45)Tca>Gca	p.S15A	EXO5_ENST00000471429.1_3'UTR|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.S15A|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.S15A			Q9H790	EXO5_HUMAN	exonuclease 5	15					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.S15A(1)									AGCAGAAGCCTCAGGGTTCTC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											97.0	108.0	104.0					1																	40980259		2203	4300	6503	SO:0001583	missense	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.43T>G	1.37:g.40980259T>G	ENSP00000361788:p.Ser15Ala	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	CCDS453.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145583	0.37923	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000432259;ENST00000418186;ENST00000415550;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T;T	0.47869	1.45;1.45;1.47;1.45;1.46;0.83;1.45;1.45	4.53	4.53	0.55603	.	0.355601	0.20005	N	0.101256	T	0.51719	0.1691	L	0.29908	0.895	0.30208	N	0.798016	D	0.58970	0.984	D	0.68192	0.956	T	0.45877	-0.9231	10	0.27785	T	0.31	-1.5694	10.5457	0.45058	0.0:0.0:0.0:1.0	.	15	Q9H790	EXO5_HUMAN	A	15	ENSP00000351328:S15A;ENSP00000361788:S15A;ENSP00000398437:S15A;ENSP00000296380:S15A;ENSP00000391240:S15A;ENSP00000413565:S15A;ENSP00000409715:S15A;ENSP00000392115:S15A	ENSP00000296380:S15A	S	+	1	0	DEM1	40752846	0.910000	0.30920	0.959000	0.39883	0.906000	0.53458	1.898000	0.39809	2.270000	0.75569	0.528000	0.53228	TCA		0.488	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1		NM_022774	
ELN	2006	hgsc.bcm.edu	37	7	73462497	73462502	+	In_Frame_Del	DEL	TGCAGC	TGCAGC	-	rs200621910	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	TGCAGC	TGCAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr7:73462497_73462502delTGCAGC	ENST00000252034.7	+	14	1110_1115	c.711_716delTGCAGC	c.(709-717)ggtgcagcg>ggg	p.AA238del	ELN_ENST00000445912.1_In_Frame_Del_p.AA238del|ELN_ENST00000414324.1_In_Frame_Del_p.AA233del|ELN_ENST00000357036.5_In_Frame_Del_p.AA243del|ELN_ENST00000380584.4_In_Frame_Del_p.AA224del|ELN_ENST00000380575.4_In_Frame_Del_p.AA228del|ELN_ENST00000380562.4_In_Frame_Del_p.AA238del|ELN_ENST00000380576.5_In_Frame_Del_p.AA238del|ELN_ENST00000429192.1_In_Frame_Del_p.AA243del|ELN_ENST00000380553.4_In_Frame_Del_p.AA121del|ELN_ENST00000320492.7_In_Frame_Del_p.AA202del|ELN_ENST00000358929.4_In_Frame_Del_p.AA238del|ELN_ENST00000320399.6_In_Frame_Del_p.AA238del|ELN_ENST00000458204.1_In_Frame_Del_p.AA228del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	238	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GAGTGGCTGGTGCAGCGGGCAAGGCT	0.621			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0																																										SO:0001651	inframe_deletion	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.711_716delTGCAGC	7.37:g.73462497_73462502delTGCAGC	ENSP00000252034:p.Ala238_Ala239del	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	CCDS5562.2																																																																																				0.621	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1		NM_000501	
FAM182A	284800	broad.mit.edu	37	20	26063752	26063752	+	RNA	SNP	T	T	C	rs78544920		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr20:26063752T>C	ENST00000376398.2	+	0	1269					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						CACCTGGGGATTGGGTATCCA	0.537																																																	0																																												284800			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26063752T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37																																																																																					0.537	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2			
FAM3A	60343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153736831	153736831	+	Silent	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chrX:153736831C>T	ENST00000447601.2	-	4	715	c.249G>A	c.(247-249)ggG>ggA	p.G83G	FAM3A_ENST00000434658.2_Silent_p.G83G|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000359889.5_Silent_p.G83G|FAM3A_ENST00000369641.3_Silent_p.G83G|FAM3A_ENST00000393572.1_Silent_p.G45G|FAM3A_ENST00000369643.1_Silent_p.G83G	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	83						extracellular region (GO:0005576)		p.G83G(1)		kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATCTTGGGCCCAATGACGT	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	38.0	43.0					X																	153736831		2203	4300	6503	SO:0001819	synonymous_variant	60343			X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.249G>A	X.37:g.153736831C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Silent	SNP	ENST00000447601.2	37	CCDS35453.1																																																																																				0.667	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			
FLT3	2322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	28608527	28608527	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr13:28608527G>T	ENST00000241453.7	-	13	1696	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	FLT3_ENST00000537084.1_Missense_Mutation_p.Q539K|FLT3_ENST00000380982.4_Missense_Mutation_p.Q539K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	539					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Q539K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTGTCTTGGATGAAAGGG	0.383			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	kidney(1)											91.0	85.0	87.0					13																	28608527		2203	4300	6503	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1615C>A	13.37:g.28608527G>T	ENSP00000241453:p.Gln539Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902013	0.52227	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77358	-1.02;-1.09;-0.81	5.56	5.56	0.83823	.	0.100234	0.44285	D	0.000464	T	0.68815	0.3042	L	0.47716	1.5	0.29506	N	0.854555	B;B	0.31968	0.244;0.349	B;B	0.29267	0.067;0.1	T	0.61302	-0.7090	10	0.05436	T	0.98	.	17.7205	0.88350	0.0:0.0:1.0:0.0	.	539;539	P36888-2;P36888	.;FLT3_HUMAN	K	539	ENSP00000241453:Q539K;ENSP00000370369:Q539K;ENSP00000438139:Q539K	ENSP00000241453:Q539K	Q	-	1	0	FLT3	27506527	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.433000	0.52834	2.609000	0.88269	0.655000	0.94253	CAA		0.383	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			
GATA2	2624	broad.mit.edu	37	3	128205185	128205185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr3:128205185delG	ENST00000341105.2	-	3	587	c.256delC	c.(256-258)cgcfs	p.R86fs	RP11-475N22.4_ENST00000464242.1_RNA|RP11-475N22.4_ENST00000473958.1_RNA|GATA2_ENST00000430265.2_Frame_Shift_Del_p.R86fs|GATA2_ENST00000487848.1_Frame_Shift_Del_p.R86fs|RP11-475N22.4_ENST00000468377.1_RNA	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	86					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AAGTGTGGGCGGCACATCTGG	0.667			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													11.0	15.0	14.0					3																	128205185		2189	4271	6460	SO:0001589	frameshift_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.256delC	3.37:g.128205185delG	ENSP00000345681:p.Arg86fs	Somatic		WXS	Illumina GAIIx	Phase_I	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Frame_Shift_Del	DEL	ENST00000341105.2	37	CCDS3049.1																																																																																				0.667	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1		NM_032638	
HERC2	8924	broad.mit.edu;ucsc.edu	37	15	28446698	28446698	+	Silent	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:28446698A>G	ENST00000261609.7	-	48	7728	c.7620T>C	c.(7618-7620)tcT>tcC	p.S2540S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S2540S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCACCAGTAGACTGCAAGA	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	88.0	90.0					15																	28446698		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7620T>C	15.37:g.28446698A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.333	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	
HCCAT5	283902	broad.mit.edu	37	16	73127625	73127625	+	lincRNA	SNP	A	A	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr16:73127625A>T	ENST00000569990.2	+	0	1031					NR_027756.1				hepatocellular carcinoma associated transcript 5 (non-protein coding)																		CGGCGTTCCCAGGAAAATTCT	0.398																																																	0																																												283902					16q22.3	2014-06-20			ENSG00000260880	ENSG00000260880		"""Long non-coding RNAs"""	48612	non-coding RNA	RNA, long non-coding	"""hepatoma associated gene"""	615613				20130911, 23314567	Standard	NR_027756		Approved	HTA, FJ222407			OTTHUMG00000172964		16.37:g.73127625A>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000569990.2	37																																																																																					0.398	HCCAT5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440524.1		NR_027756	
Unknown	0	broad.mit.edu	37	9	66499764	66499764	+	IGR	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr9:66499764C>T								RP11-262H14.1 (30454 upstream) : RP11-262H14.7 (17441 downstream)																							GGTGGGCAACCTGGTGGCCAT	0.582																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499764C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP		37																																																																																				0	0.582									
LRRC8E	80131	broad.mit.edu	37	19	7964517	7964517	+	Silent	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:7964517C>T	ENST00000306708.6	+	3	1211	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	370					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I370I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGCACCTCATCGATCAGTACG	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	76.0	85.0					19																	7964517		2203	4300	6503	SO:0001819	synonymous_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1110C>T	19.37:g.7964517C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																				0.577	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1		NM_025061	
METTL16	79066	broad.mit.edu;hgsc.bcm.edu	37	17	2323872	2323872	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr17:2323872G>A	ENST00000263092.6	-	10	1208	c.1081C>T	c.(1081-1083)Ccc>Tcc	p.P361S	METTL16_ENST00000538844.1_Missense_Mutation_p.P143S|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	361							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.P361S(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TTTCCACAGGGAACTCGTTTA	0.408																																																	2	Substitution - Missense(2)	kidney(2)											58.0	58.0	58.0					17																	2323872		1839	4085	5924	SO:0001583	missense	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1081C>T	17.37:g.2323872G>A	ENSP00000263092:p.Pro361Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698616	0.68501	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.48522	0.93;0.81	5.64	4.68	0.58851	.	0.096535	0.64402	N	0.000001	T	0.45836	0.1362	L	0.57536	1.79	0.58432	D	0.999999	B	0.29988	0.264	B	0.32533	0.147	T	0.42361	-0.9456	10	0.42905	T	0.14	-3.5727	12.2384	0.54528	0.0823:0.0:0.9177:0.0	.	361	Q86W50	MET16_HUMAN	S	361;41;143	ENSP00000263092:P361S;ENSP00000443633:P143S	ENSP00000263092:P361S	P	-	1	0	METTL16	2270622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.447000	0.97595	1.381000	0.46364	0.655000	0.94253	CCC		0.408	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2		NM_024086	
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11319454	11319454	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:11319454C>G	ENST00000361445.4	-	2	89	c.13G>C	c.(13-15)Gga>Cga	p.G5R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	5	Interaction with NBN.				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.G5R(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)	GCGGCAGGTCCGGTTCCAAGC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											97.0	103.0	101.0					1																	11319454		2203	4300	6503	SO:0001583	missense	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.13G>C	1.37:g.11319454C>G	ENSP00000354558:p.Gly5Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284306	0.40394	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08008	3.14	4.85	3.93	0.45458	.	0.847959	0.10550	N	0.661569	T	0.07863	0.0197	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22626	-1.0211	10	0.66056	D	0.02	-5.3438	6.81	0.23799	0.0:0.8416:0.0:0.1584	.	5	P42345	MTOR_HUMAN	R	5	ENSP00000354558:G5R	ENSP00000354558:G5R	G	-	1	0	MTOR	11242041	0.218000	0.23608	0.207000	0.23584	0.596000	0.36781	2.052000	0.41316	2.685000	0.91497	0.655000	0.94253	GGA		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MUC4	4585	hgsc.bcm.edu	37	3	195513694	195513694	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr3:195513694G>A	ENST00000463781.3	-	2	5216	c.4757C>T	c.(4756-4758)cCt>cTt	p.P1586L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P1586L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.P1586H(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)		GTCGGTGACAGGAAGAGGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											16.0	14.0	15.0					3																	195513694		673	1571	2244	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.4757C>T	3.37:g.195513694G>A	ENSP00000417498:p.Pro1586Leu	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	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	8.547	0.874725	0.17395	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.53;1.53	.	.	.	.	.	.	.	.	T	0.31482	0.0798	N	0.19112	0.55	0.31293	N	0.689207	D	0.62365	0.991	D	0.68192	0.956	T	0.32587	-0.9901	7	.	.	.	.	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	1586	E7ESK3	.	L	1586	ENSP00000417498:P1586L;ENSP00000420243:P1586L	.	P	-	2	0	MUC4	196998089	0.021000	0.18746	0.020000	0.16555	0.020000	0.10135	2.186000	0.42593	0.088000	0.17205	0.089000	0.15464	CCT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NAB1	4664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191524231	191524231	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr2:191524231C>T	ENST00000337386.5	+	4	790	c.329C>T	c.(328-330)tCc>tTc	p.S110F	NAB1_ENST00000357215.5_Missense_Mutation_p.S110F|NAB1_ENST00000409581.1_Missense_Mutation_p.S110F|NAB1_ENST00000409641.1_Missense_Mutation_p.S110F|NAB1_ENST00000545490.1_5'Flank	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	110					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S110F(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGAATATCCTGCAGTAGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											52.0	54.0	53.0					2																	191524231		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.329C>T	2.37:g.191524231C>T	ENSP00000336894:p.Ser110Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395539	0.42512	.	.	ENSG00000138386	ENST00000448811;ENST00000416973;ENST00000409581;ENST00000337386;ENST00000357215;ENST00000423076;ENST00000409641	.	.	.	5.51	5.51	0.81932	.	0.567297	0.18267	N	0.146444	T	0.46229	0.1382	N	0.14661	0.345	0.80722	D	1	P;B;B	0.34826	0.471;0.198;0.198	B;B;B	0.41917	0.37;0.062;0.062	T	0.35276	-0.9795	9	0.25751	T	0.34	-4.0023	13.5338	0.61638	0.1555:0.8445:0.0:0.0	.	110;110;110	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	F	110;110;110;110;110;58;110	.	ENSP00000336894:S110F	S	+	2	0	NAB1	191232476	0.908000	0.30866	0.984000	0.44739	0.997000	0.91878	2.703000	0.47110	2.873000	0.98535	0.561000	0.74099	TCC		0.488	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1		NM_005966	
NBPF10	100132406	broad.mit.edu	37	1	145302696	145302696	+	Silent	SNP	C	C	G	rs199751510	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:145302696C>G	ENST00000369339.3	+	5	574	c.321C>G	c.(319-321)acC>acG	p.T107T	NBPF10_ENST00000342960.5_Silent_p.T378T|NBPF10_ENST00000369338.1_Silent_p.T107T|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	378						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T107T(1)|p.T378T(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAGCTGACCCAGTTAAAGG	0.512													.|||	668	0.133387	0.0696	0.1758	5008	,	,		14216	0.1577		0.1769	False		,,,				2504	0.1196																2	Substitution - coding silent(2)	kidney(2)																																								SO:0001819	synonymous_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.321C>G	1.37:g.145302696C>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37																																																																																					0.512	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		NM_001039703	
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124841254	124841254	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr12:124841254G>A	ENST00000405201.1	-	23	3175	c.3175C>T	c.(3175-3177)Ccc>Tcc	p.P1059S	NCOR2_ENST00000356219.3_Missense_Mutation_p.P1066S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1049S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1050S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1049S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P620S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1067					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P1066S(1)|p.P1059S(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTCACGGGGGGGCACGGGG	0.667																																																	2	Substitution - Missense(2)	kidney(2)											14.0	18.0	17.0					12																	124841254		1893	4099	5992	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3175C>T	12.37:g.124841254G>A	ENSP00000384018:p.Pro1059Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	6.309	0.425061	0.11987	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.35236	2.13;2.38;2.12;2.38;2.13;2.38;1.32	4.88	2.71	0.32032	.	0.194880	0.46145	D	0.000310	T	0.16128	0.0388	N	0.14661	0.345	0.23043	N	0.998384	B;B;B	0.30236	0.184;0.274;0.234	B;B;B	0.20184	0.017;0.026;0.028	T	0.09596	-1.0667	10	0.45353	T	0.12	-10.846	3.7715	0.08643	0.2069:0.0:0.5648:0.2283	.	1049;1050;1059	C9J0Q5;C9J239;C9JFD3	.;.;.	S	1059;1049;1066;1050;1058;620;1049;1067	ENSP00000384018:P1059S;ENSP00000384202:P1049S;ENSP00000348551:P1066S;ENSP00000380513:P1050S;ENSP00000385618:P620S;ENSP00000400281:P1049S;ENSP00000402808:P1067S	ENSP00000348551:P1066S	P	-	1	0	NCOR2	123407207	0.998000	0.40836	0.604000	0.28916	0.557000	0.35523	1.639000	0.37176	1.029000	0.39812	-0.314000	0.08810	CCC		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312	
NOL8	55035	hgsc.bcm.edu;ucsc.edu	37	9	95069939	95069939	+	Intron	SNP	T	T	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr9:95069939T>C	ENST00000535387.1	-	9	2572				NOL8_ENST00000545558.1_Intron|NOL8_ENST00000442668.2_Intron|NOL8_ENST00000542053.1_Intron|NOL8_ENST00000358855.4_Intron					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGTATGACTCTTTCAACTTAC	0.338																																																	0													130.0	106.0	114.0					9																	95069939		692	1588	2280	SO:0001627	intron_variant	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2573-633A>G	9.37:g.95069939T>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																				0.338	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2		NM_017948	
NOP2	4839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6669891	6669891	+	Silent	SNP	G	G	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr12:6669891G>T	ENST00000322166.5	-	13	1531	c.1410C>A	c.(1408-1410)tcC>tcA	p.S470S	NOP2_ENST00000382421.3_Silent_p.S503S|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_Silent_p.S466S|NOP2_ENST00000541778.1_Silent_p.S466S|NOP2_ENST00000399466.2_Silent_p.S466S|NOP2_ENST00000537442.1_Silent_p.S470S	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	470					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S466S(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGGATCCTTGGAGATGACCC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	34.0	32.0					12																	6669891		2072	4214	6286	SO:0001819	synonymous_variant	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1410C>A	12.37:g.6669891G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	CCDS58203.1																																																																																				0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1		NM_006170	
PCK1	5105	hgsc.bcm.edu;ucsc.edu	37	20	56138155	56138157	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	ATC	ATC	ATC	-	ATC	ATC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr20:56138155_56138157delATC	ENST00000319441.4	+	5	846_848	c.682_684delATC	c.(682-684)atcdel	p.I229del	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_In_Frame_Del_p.I97del	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	229					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.I228S(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGCAGAGAGATCATCTCCTTTG	0.616																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.682_684delATC	20.37:g.56138158_56138160delATC	ENSP00000319814:p.Ile229del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K437|B4DT64|Q8TCA3|Q9UJD2	In_Frame_Del	DEL	ENST00000319441.4	37	CCDS13460.1																																																																																				0.616	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82580448	82580448	+	Silent	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr7:82580448C>T	ENST00000333891.9	-	6	9793	c.9456G>A	c.(9454-9456)acG>acA	p.T3152T	PCLO_ENST00000423517.2_Silent_p.T3152T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T3152T(3)|p.T3083T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAATGTCCGTTTCAGATG	0.428																																																	5	Substitution - coding silent(5)	kidney(3)|large_intestine(2)											57.0	54.0	55.0					7																	82580448		1945	4172	6117	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9456G>A	7.37:g.82580448C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PRAMEF6	440561	broad.mit.edu	37	1	13001258	13001258	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:13001258C>T	ENST00000376189.1	-	3	524	c.425G>A	c.(424-426)aGa>aAa	p.R142K	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.R142K|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	142					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R142K(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTCCTCTCATCCTTGG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											247.0	472.0	392.0					1																	13001258		1507	2707	4214	SO:0001583	missense	440561				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.425G>A	1.37:g.13001258C>T	ENSP00000365360:p.Arg142Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.474415	0.01044	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.05258	3.47;3.47;3.47	1.28	-2.57	0.06248	.	2.960340	0.00963	N	0.003123	T	0.04998	0.0134	L	0.31294	0.92	0.09310	N	1	B	0.33238	0.403	B	0.37989	0.262	T	0.27262	-1.0079	10	0.07482	T	0.82	.	2.3627	0.04311	0.4962:0.2938:0.0:0.21	.	142	Q5VXH4	PRAM6_HUMAN	K	142	ENSP00000365360:R142K;ENSP00000401281:R142K;ENSP00000347211:R142K	ENSP00000347211:R142K	R	-	2	0	PRAMEF6	12923845	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.907000	0.28531	-1.189000	0.02702	0.386000	0.25728	AGA		0.507	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001010889	
PRDM2	7799	hgsc.bcm.edu	37	1	14075880	14075880	+	Silent	SNP	C	C	T	rs75417771	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:14075880C>T	ENST00000235372.7	+	6	1265	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	PRDM2_ENST00000343137.4_5'Flank|PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000311066.5_Silent_p.L137L|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.L137L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	137	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CGAGGAGCTCCTGGTCTGGTA	0.677													c|||	38	0.00758786	0.0023	0.0086	5008	,	,		5142	0.0		0.0258	False		,,,				2504	0.0031																0									,,,	14,4370		0,14,2178	15.0	18.0	17.0		,409,409,409	3.7	1.0	1	dbSNP_131	17	170,8410		1,168,4121	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	,,,	1,182,6299	TT,TC,CC		1.9814,0.3193,1.4193	,,,	,137/227,137/1719,137/1683	14075880	184,12780	2192	4290	6482	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.409C>T	1.37:g.14075880C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.677	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231	
PRDM2	7799	hgsc.bcm.edu	37	1	14105137	14105139	+	In_Frame_Del	DEL	GAT	GAT	-	rs2076324|rs369010172	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:14105137_14105139delGAT	ENST00000235372.7	+	8	1703_1705	c.847_849delGAT	c.(847-849)gatdel	p.D287del	PRDM2_ENST00000343137.4_In_Frame_Del_p.D86del|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_In_Frame_Del_p.D86del|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_In_Frame_Del_p.D287del|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	287	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		agaagaagaagatgatgatgatg	0.488																																																	0																																										SO:0001651	inframe_deletion	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.847_849delGAT	1.37:g.14105146_14105148delGAT	ENSP00000235372:p.Asp287del	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	In_Frame_Del	DEL	ENST00000235372.7	37	CCDS150.1																																																																																				0.488	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231	
MFSD3	113655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145737152	145737152	+	IGR	SNP	C	C	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr8:145737152C>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.Q1138H|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Q1138H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCAGCGGACCTGGTCCTCCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											60.0	71.0	67.0					8																	145737152		2180	4273	6453	SO:0001628	intergenic_variant	9401				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737152C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																				0.642	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431	
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)atgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CTATGAAGCATTTTTTTGACC	0.408																																					NSCLC(8;188 360 1520 20207 31481)												0													140.0	134.0	136.0					6																	30040952		1511	2709	4220	SO:0001589	frameshift_variant	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.664delA	6.37:g.30040952delT	ENSP00000244360:p.Met222fs	Somatic		WXS	Illumina GAIIx	Phase_I	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Frame_Shift_Del	DEL	ENST00000244360.6	37	CCDS4673.1																																																																																				0.408	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3		NM_170769	
RP1L1	94137	hgsc.bcm.edu	37	8	10466026	10466026	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr8:10466026T>G	ENST00000382483.3	-	4	5805	c.5582A>C	c.(5581-5583)cAg>cCg	p.Q1861P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1941					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.Q1861P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCTGGGCATCCCC	0.632																																																	1	Substitution - Missense(1)	lung(1)											160.0	170.0	167.0					8																	10466026		1897	4114	6011	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5582A>C	8.37:g.10466026T>G	ENSP00000371923:p.Gln1861Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	1.224	-0.625955	0.03610	.	.	ENSG00000183638	ENST00000382483	T	0.08008	3.14	1.38	-0.124	0.13523	.	.	.	.	.	T	0.04815	0.0130	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44097	-0.9350	9	0.25751	T	0.34	.	4.2122	0.10517	0.0:0.0:0.3633:0.6367	.	1861	A6NKC6	.	P	1861	ENSP00000371923:Q1861P	ENSP00000371923:Q1861P	Q	-	2	0	RP1L1	10503436	0.000000	0.05858	0.016000	0.15963	0.017000	0.09413	-1.001000	0.03690	-0.252000	0.09528	-1.694000	0.00725	CAG		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
SNX29	92017	broad.mit.edu;ucsc.edu	37	16	12142415	12142415	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr16:12142415T>C	ENST00000566228.1	+	7	755	c.686T>C	c.(685-687)aTc>aCc	p.I229T	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	229						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.I229T(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGTCTCCATCCTCATCAAA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											125.0	117.0	120.0					16																	12142415		2197	4300	6497	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.686T>C	16.37:g.12142415T>C	ENSP00000456480:p.Ile229Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775205	0.70107	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.51	5.51	0.81932	.	0.128181	0.52532	D	0.000078	T	0.56411	0.1983	L	0.46741	1.465	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	7	0.08837	T	0.75	-20.2989	14.4616	0.67453	0.0:0.0:0.0:1.0	.	.	.	.	T	229	.	ENSP00000268271:I229T	I	+	2	0	RUNDC2A	12049916	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.836000	0.62789	2.090000	0.63153	0.460000	0.39030	ATC		0.577	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			
SETD2	29072	broad.mit.edu	37	3	47058513	47058513	+	3'UTR	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr3:47058513G>A	ENST00000409792.3	-	0	7807					NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGGACAGAAAGGCCCACAGGA	0.517			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001624	3_prime_UTR_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.*70C>T	3.37:g.47058513G>A		Somatic		WXS	Illumina GAIIx	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	3'UTR	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.517	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SGK1	6446	hgsc.bcm.edu;ucsc.edu	37	6	134495942	134495943	+	Start_Codon_Del	DEL	TC	TC	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr6:134495942_134495943delTC	ENST00000237305.7	-	0	91_92				SGK1_ENST00000367858.5_Intron|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000475719.2_Start_Codon_Del	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTTTTCACCGTCATCACCACCG	0.589																																																	0																																										SO:0001582	initiator_codon_variant	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		6.37:g.134495942_134495943delTC		Somatic		WXS	Illumina HiSeq	Phase_I	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Frame_Shift_Del	DEL	ENST00000237305.7	37	CCDS5170.1																																																																																				0.589	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			
SIGLEC10	89790	hgsc.bcm.edu	37	19	51919240	51919240	+	Silent	SNP	C	C	T	rs79484306	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:51919240C>T	ENST00000339313.5	-	5	1052	c.936G>A	c.(934-936)ggG>ggA	p.G312G	SIGLEC10_ENST00000439889.2_Silent_p.G254G|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000353836.5_Silent_p.G312G|SIGLEC10_ENST00000432469.2_Silent_p.G229G|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.G312G|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.G254G|SIGLEC10_ENST00000436984.2_Silent_p.G264G|SIGLEC10_ENST00000442846.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	312	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGCCTTCACCCCGGGCAGCT	0.672																																																	0													37.0	42.0	40.0					19																	51919240		2203	4300	6503	SO:0001819	synonymous_variant	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.936G>A	19.37:g.51919240C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																				0.672	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2		NM_033130	
SYNM	23336	broad.mit.edu;ucsc.edu	37	15	99670374	99670374	+	Silent	SNP	T	T	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:99670374T>C	ENST00000560674.1	+	4	1420	c.951T>C	c.(949-951)gcT>gcC	p.A317A	SYNM_ENST00000336292.6_Silent_p.A602A|SYNM_ENST00000328642.7_Silent_p.A602A|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	603	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.A602A(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGAAGGATGCTGGTGGTGGGA	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)												2	Substitution - coding silent(2)	kidney(2)											61.0	62.0	62.0					15																	99670374		2016	4185	6201	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.951T>C	15.37:g.99670374T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37																																																																																					0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2		NM_145728	
TRPC7	57113	broad.mit.edu;hgsc.bcm.edu	37	5	135692564	135692564	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr5:135692564G>A	ENST00000513104.1	-	2	794	c.512C>T	c.(511-513)gCg>gTg	p.A171V	TRPC7_ENST00000355180.3_Missense_Mutation_p.A171V|TRPC7_ENST00000426057.2_Missense_Mutation_p.A171V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	171					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A171V(4)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGCGCCGCCAGGATGAT	0.632																																																	4	Substitution - Missense(4)	large_intestine(2)|kidney(2)											129.0	140.0	136.0					5																	135692564		2203	4300	6503	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.512C>T	5.37:g.135692564G>A	ENSP00000426070:p.Ala171Val	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	34	5.374382	0.95923	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.87491	-2.26;-2.26;-2.26	5.26	5.26	0.73747	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.91818	3.245	0.47949	D	0.999559	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.97;1.0;0.995;0.998	D	0.95713	0.8759	10	0.87932	D	0	-17.8179	19.0783	0.93171	0.0:0.0:1.0:0.0	.	171;171;171;171	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	V	171	ENSP00000347312:A171V;ENSP00000441628:A171V;ENSP00000426070:A171V	ENSP00000265193:A171V	A	-	2	0	TRPC7	135720463	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.657000	0.98554	2.731000	0.93534	0.650000	0.86243	GCG		0.632	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1		NM_020389	
Unknown	0	broad.mit.edu	37	15	30771310	30771310	+	IGR	SNP	A	A	C	rs201527140	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:30771310A>C								GOLGA8R (64847 upstream) : CTD-3092A11.1 (5436 downstream)																							GGAAAAACTTAAGCTAATGCT	0.408																																																	0																																										SO:0001628	intergenic_variant	0																															15.37:g.30771310A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.408									
UBR1	197131	broad.mit.edu;ucsc.edu	37	15	43299453	43299453	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:43299453A>C	ENST00000290650.4	-	30	3317	c.3239T>G	c.(3238-3240)aTt>aGt	p.I1080S	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1080					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.I1080S(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)		ACCCAAAGCAATTCTAGAGTA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											74.0	67.0	69.0					15																	43299453		2203	4299	6502	SO:0001583	missense	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.3239T>G	15.37:g.43299453A>C	ENSP00000290650:p.Ile1080Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399387	0.62177	.	.	ENSG00000159459	ENST00000290650	T	0.44881	0.91	4.99	4.99	0.66335	.	0.292265	0.37857	N	0.001920	T	0.35422	0.0931	L	0.47716	1.5	0.80722	D	1	P	0.38250	0.624	B	0.35727	0.209	T	0.11842	-1.0571	10	0.18710	T	0.47	-13.9487	14.8455	0.70257	1.0:0.0:0.0:0.0	.	1080	Q8IWV7	UBR1_HUMAN	S	1080	ENSP00000290650:I1080S	ENSP00000290650:I1080S	I	-	2	0	UBR1	41086745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.096000	0.63516	0.533000	0.62120	ATT		0.418	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916	
UQCRFS1	7386	broad.mit.edu	37	19	29699033	29699033	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:29699033T>C	ENST00000304863.4	-	2	669	c.247A>G	c.(247-249)Atc>Gtc	p.I83V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	83					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.I83V(4)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GGCACCTTGATGTCTGTGTGG	0.423																																																	4	Substitution - Missense(4)	endometrium(2)|kidney(2)											53.0	59.0	57.0					19																	29699033		2203	4299	6502	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.247A>G	19.37:g.29699033T>C	ENSP00000306397:p.Ile83Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.596233	0.00857	.	.	ENSG00000169021	ENST00000304863	T	0.42131	0.98	5.42	-4.98	0.03019	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.618499	0.17385	N	0.176150	T	0.22360	0.0539	N	0.16862	0.45	0.20764	N	0.999851	B	0.02656	0.0	B	0.14578	0.011	T	0.23976	-1.0173	10	0.08837	T	0.75	.	17.2071	0.86921	0.0:0.6778:0.0:0.3222	.	83	P47985	UCRI_HUMAN	V	83	ENSP00000306397:I83V	ENSP00000306397:I83V	I	-	1	0	UQCRFS1	34390873	0.987000	0.35691	0.084000	0.20598	0.009000	0.06853	0.184000	0.16939	-1.243000	0.02519	-3.117000	0.00062	ATC		0.423	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1		NM_006003	
XRN1	54464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142037709	142037709	+	Silent	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr3:142037709A>G	ENST00000264951.4	-	38	4555	c.4438T>C	c.(4438-4440)Tta>Cta	p.L1480L	XRN1_ENST00000392981.2_Silent_p.L1481L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1480					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L1480L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGTACCAGTAAGCCATTAGAT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	90.0	90.0					3																	142037709		2203	4300	6503	SO:0001819	synonymous_variant	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4438T>C	3.37:g.142037709A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																				0.388	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001	
ZNF43	7594	broad.mit.edu	37	19	21992038	21992038	+	Silent	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:21992038A>G	ENST00000354959.4	-	4	970	c.801T>C	c.(799-801)ttT>ttC	p.F267F	ZNF43_ENST00000595461.1_Silent_p.F261F|ZNF43_ENST00000598381.1_Silent_p.F261F|ZNF43_ENST00000594012.1_Silent_p.F261F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F267F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACTTGTTAAAAGCTTTGC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	59.0	57.0					19																	21992038		2202	4298	6500	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.801T>C	19.37:g.21992038A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.348	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2		NM_003423	
ZNF285	26974	hgsc.bcm.edu	37	19	44891003	44891003	+	Silent	SNP	G	G	A	rs201302972		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:44891003G>A	ENST00000330997.4	-	4	1468	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	ZNF285_ENST00000544719.2_Silent_p.S468S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S475S	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	468					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAAGAACAGAGCTATACGCAA	0.418																																																	0													86.0	87.0	87.0					19																	44891003		2203	4300	6503	SO:0001819	synonymous_variant	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1404C>T	19.37:g.44891003G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1		NM_152354	
