#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
ACSL6	23305	hgsc.bcm.edu	37	5	131309041	131309041	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr5:131309041C>T	ENST00000379240.1	-	12	1199	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ACSL6_ENST00000379264.2_Missense_Mutation_p.R374H|ACSL6_ENST00000357096.1_Missense_Mutation_p.R274H|ACSL6_ENST00000379246.1_Missense_Mutation_p.R360H|ACSL6_ENST00000379244.1_Missense_Mutation_p.R349H|ACSL6_ENST00000379272.2_Missense_Mutation_p.R364H|ACSL6_ENST00000379255.1_Missense_Mutation_p.R274H|ACSL6_ENST00000379249.3_Missense_Mutation_p.R349H|ACSL6_ENST00000431707.1_Missense_Mutation_p.R329H|ACSL6_ENST00000543479.1_Missense_Mutation_p.R349H|ACSL6_ENST00000544770.1_Missense_Mutation_p.R258H|ACSL6_ENST00000296869.4_Missense_Mutation_p.R374H			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	349					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.R374H(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGAGAAGGCGGATATCTCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											108.0	93.0	98.0					5																	131309041		2203	4300	6503	131336940	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1046G>A	5.37:g.131309041C>T	ENSP00000368542:p.Arg349His	Somatic		Capture	SOLID	Phase_III	131336940	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264440	0.59431	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	2.82;2.82;2.82;0.98;0.98;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.56	5.56	0.83823	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.84846	2.72	0.80722	D	1	D;P;P;D;P;P;P	0.89917	1.0;0.933;0.886;0.999;0.83;0.933;0.933	D;B;B;D;B;B;B	0.74023	0.982;0.332;0.363;0.982;0.221;0.332;0.332	T	0.73764	-0.3880	10	0.62326	D	0.03	.	19.5863	0.95490	0.0:1.0:0.0:0.0	.	349;364;339;349;274;374;374	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	H	349;374;364;274;274;374;360;349;258;349;329;349;314	ENSP00000368551:R349H;ENSP00000368566:R374H;ENSP00000368574:R364H;ENSP00000349608:R274H;ENSP00000368557:R274H;ENSP00000296869:R374H;ENSP00000368548:R360H;ENSP00000368546:R349H;ENSP00000445154:R258H;ENSP00000368542:R349H;ENSP00000413329:R329H;ENSP00000442124:R349H;ENSP00000397507:R314H	ENSP00000296869:R374H	R	-	2	0	ACSL6	131336940	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.708000	0.84633	2.639000	0.89480	0.650000	0.86243	CGC		0.547	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		Missense_Mutation
ANP32B	10541	hgsc.bcm.edu	37	9	100777710	100777710	+	Missense_Mutation	SNP	T	T	A	rs112073824		TCGA-09-1659-01	TCGA-09-1659-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr9:100777710T>A	ENST00000339399.4	+	7	948	c.753T>A	c.(751-753)gaT>gaA	p.D251E		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	251	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				gagaagatgattaagaCCCCA	0.393																																																0			9											159.0	149.0	152.0					9																	100777710		1327	2309	3636	99817531	SO:0001583	missense	10541			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.753T>A	9.37:g.100777710T>A	ENSP00000345848:p.Asp251Glu	Somatic		Capture	SOLID	Phase_III	99817531	B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	ENST00000339399.4	37	CCDS6732.1	SNP	52	Baylor	.	.	.	.	.	.	.	.	.	.	T	7.900	0.734160	0.15574	.	.	ENSG00000136938	ENST00000339399	T	0.53857	0.6	5.3	0.158	0.14942	.	0.406531	0.26272	N	0.025333	T	0.26231	0.0640	N	0.08118	0	0.34648	D	0.721394	P	0.38535	0.635	B	0.36464	0.225	T	0.30534	-0.9975	9	.	.	.	-3.3046	9.2879	0.37769	0.0:0.5365:0.0:0.4635	.	251	Q92688	AN32B_HUMAN	E	251	ENSP00000345848:D251E	.	D	+	3	2	ANP32B	99817531	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	1.226000	0.32563	0.069000	0.16605	0.477000	0.44152	GAT		0.393	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053346.4	NM_006401		Missense_Mutation
ARHGAP26	23092	hgsc.bcm.edu	37	5	142281604	142281604	+	Splice_Site	SNP	C	C	T	rs142837036		TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr5:142281604C>T	ENST00000274498.4	+	7	1080	c.702C>T	c.(700-702)aaC>aaT	p.N234N	ARHGAP26_ENST00000378004.3_Splice_Site_p.N234N	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	234					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.N234N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATACAGAACGTGAGTGGGC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	5						C	,	0,4406		0,0,2203	126.0	111.0	116.0		702,702	-7.5	0.9	5	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ARHGAP26	NM_001135608.1,NM_015071.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	234/760,234/815	142281604	1,13005	2203	4300	6503	142261788	SO:0001630	splice_region_variant	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.702+1C>T	5.37:g.142281604C>T		Somatic		Capture	SOLID	Phase_III	142261788	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	CCDS4277.1	SNP	19	Baylor																																																																																				0.463	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Silent	Silent
CEP250	11190	hgsc.bcm.edu	37	20	34050331	34050331	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1659-01	TCGA-09-1659-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr20:34050331G>A	ENST00000397527.1	+	4	859	c.139G>A	c.(139-141)Gag>Aag	p.E47K	CEP250_ENST00000397524.1_Missense_Mutation_p.E47K|CEP250_ENST00000342580.4_Missense_Mutation_p.E47K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	47					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E47K(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAACTCCCAGGAGGCCCAGCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											30.0	30.0	30.0					20																	34050331		2200	4299	6499	33513745	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.139G>A	20.37:g.34050331G>A	ENSP00000380661:p.Glu47Lys	Somatic		Capture	SOLID	Phase_III	33513745	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	35	5.413497	0.96072	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.50813	2.57;2.64;0.73;1.68	5.12	5.12	0.69794	.	0.000000	0.56097	D	0.000031	T	0.68677	0.3027	M	0.75264	2.295	0.47659	D	0.999488	D	0.76494	0.999	D	0.85130	0.997	T	0.72087	-0.4396	10	0.87932	D	0	.	15.5668	0.76300	0.0:0.0:1.0:0.0	.	47	Q9BV73	CP250_HUMAN	K	47	ENSP00000380661:E47K;ENSP00000341541:E47K;ENSP00000380658:E47K;ENSP00000413827:E47K	ENSP00000341541:E47K	E	+	1	0	CEP250	33513745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.060000	0.76692	2.639000	0.89480	0.650000	0.86243	GAG		0.597	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		Missense_Mutation
ENTPD4	9583	hgsc.bcm.edu	37	8	23305377	23305377	+	Silent	SNP	G	G	A			TCGA-09-1659-01	TCGA-09-1659-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr8:23305377G>A	ENST00000358689.4	-	4	463	c.228C>T	c.(226-228)gaC>gaT	p.D76D	ENTPD4_ENST00000356206.6_Silent_p.D76D|ENTPD4_ENST00000417069.2_Silent_p.D76D	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	76					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.D76D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TAGCTTCAATGTCGGTAACTC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	8											205.0	155.0	172.0					8																	23305377		2203	4300	6503	23361322	SO:0001819	synonymous_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.228C>T	8.37:g.23305377G>A		Somatic		Capture	SOLID	Phase_III	23361322	D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	CCDS6041.1	SNP	48	Baylor																																																																																				0.443	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		Silent
HOXB1	3211	hgsc.bcm.edu	37	17	46608203	46608203	+	Missense_Mutation	SNP	A	A	G	rs12950537	byFrequency	TCGA-09-1659-01	TCGA-09-1659-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr17:46608203A>G	ENST00000239174.6	-	1	156	c.64T>C	c.(64-66)Tac>Cac	p.Y22H	HOXB1_ENST00000577092.1_Missense_Mutation_p.Y22H	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	22					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGCGCTGTAGGCGCTGGGT	0.637																																																0			17											62.0	72.0	69.0					17																	46608203		2203	4300	6503	43963202	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.64T>C	17.37:g.46608203A>G	ENSP00000355140:p.Tyr22His	Somatic		Capture	SOLID	Phase_III	43963202	Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	SNP	15	Baylor	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175400	0.38413	.	.	ENSG00000120094	ENST00000239174	D	0.89552	-2.53	5.7	3.46	0.39613	.	0.000000	0.41194	D	0.000931	D	0.85353	0.5677	L	0.57536	1.79	0.49389	D	0.999788	B	0.19200	0.034	B	0.17433	0.018	T	0.81389	-0.0955	10	0.52906	T	0.07	.	9.5897	0.39539	0.8551:0.0:0.1449:0.0	rs12950537	22	P14653	HXB1_HUMAN	H	22	ENSP00000355140:Y22H	ENSP00000355140:Y22H	Y	-	1	0	HOXB1	43963202	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.591000	0.53986	0.955000	0.37878	0.450000	0.29827	TAC		0.637	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			Missense_Mutation
KIF2B	84643	hgsc.bcm.edu	37	17	51902365	51902365	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1659-01	TCGA-09-1659-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr17:51902365G>T	ENST00000268919.4	+	1	2127	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	657					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K657N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATCCAAAAGAAACTGAAAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											84.0	83.0	83.0					17																	51902365		2203	4300	6503	49257364	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1971G>T	17.37:g.51902365G>T	ENSP00000268919:p.Lys657Asn	Somatic		Capture	SOLID	Phase_III	49257364	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	SNP	33	Baylor	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458350	0.26248	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73789	-0.78	5.65	-0.371	0.12525	.	1.209950	0.06129	N	0.670191	T	0.55577	0.1929	N	0.24115	0.695	0.26051	N	0.981485	B	0.28900	0.227	B	0.29353	0.101	T	0.48790	-0.9004	10	0.41790	T	0.15	.	0.6891	0.00888	0.2072:0.1512:0.3314:0.3103	.	657	Q8N4N8	KIF2B_HUMAN	N	657;545	ENSP00000268919:K657N	ENSP00000268919:K657N	K	+	3	2	KIF2B	49257364	0.967000	0.33354	0.996000	0.52242	0.717000	0.41224	0.031000	0.13710	0.346000	0.23899	-0.182000	0.12963	AAG		0.458	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		Missense_Mutation
KLRC3	3823	hgsc.bcm.edu	37	12	10588462	10588462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr12:10588462C>A	ENST00000539033.1	-	1	138	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	KLRC2_ENST00000381901.1_Nonsense_Mutation_p.E42*|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Nonsense_Mutation_p.E42*														p.E42*(1)									AGATTTAATTCTACTTGGAAT	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	12											145.0	159.0	155.0					12																	10588462		2202	4299	6501	10479729	SO:0001587	stop_gained	3822																														ENST00000539033.1:c.124G>T	12.37:g.10588462C>A	ENSP00000437563:p.Glu42*	Somatic		Capture	SOLID	Phase_III	10479729		Nonsense_Mutation	SNP	ENST00000539033.1	37		SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576640	0.45902	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	.	.	.	2.57	0.579	0.17397	.	0.445755	0.19718	N	0.107641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.4666	0.16646	0.0:0.687:0.0:0.313	.	.	.	.	X	42	.	ENSP00000371326:E42X	E	-	1	0	KLRC2;RP11-277P12.6	10479729	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.293000	0.19029	-0.003000	0.14444	-1.206000	0.01644	GAA		0.368	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			Nonsense_Mutation
KPRP	448834	hgsc.bcm.edu	37	1	152732148	152732148	+	Silent	SNP	C	C	T			TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr1:152732148C>T	ENST00000606109.1	+	1	112	c.84C>T	c.(82-84)tcC>tcT	p.S28S	KPRP_ENST00000368773.1_Silent_p.S28S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	28	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S28S(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCAATCCCCCTTTGCCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											122.0	120.0	121.0					1																	152732148		2203	4300	6503	150998772	SO:0001819	synonymous_variant	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.84C>T	1.37:g.152732148C>T		Somatic		Capture	SOLID	Phase_III	150998772		Silent	SNP	ENST00000606109.1	37	CCDS30862.1	SNP	22	Baylor																																																																																				0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		Silent
MYLK	4638	hgsc.bcm.edu	37	3	123512657	123512657	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1659-01	TCGA-09-1659-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr3:123512657T>C	ENST00000475616.1	-	1	31	c.32A>G	c.(31-33)cAc>cGc	p.H11R	MYLK_ENST00000346322.5_Missense_Mutation_p.H11R|MYLK_ENST00000360772.3_Missense_Mutation_p.H11R|MYLK_ENST00000359169.1_Missense_Mutation_p.H11R|MYLK_ENST00000360304.3_Missense_Mutation_p.H11R			Q15746	MYLK_HUMAN	myosin light chain kinase	11					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.H11R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTTGGAAATGTGTGACGAGGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											70.0	70.0	70.0					3																	123512657		2203	4300	6503	124995347	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.32A>G	3.37:g.123512657T>C	ENSP00000418335:p.His11Arg	Somatic		Capture	SOLID	Phase_III	124995347	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	SNP	59	Baylor	.	.	.	.	.	.	.	.	.	.	T	7.724	0.697861	0.15106	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.64991	-0.13;-0.08;-0.13;-0.04;-0.08	5.76	3.37	0.38596	.	.	.	.	.	T	0.37892	0.1020	N	0.12182	0.205	0.20074	N	0.999936	B;B;B;B;B;B;B	0.24186	0.0;0.0;0.099;0.078;0.002;0.078;0.0	B;B;B;B;B;B;B	0.24701	0.001;0.001;0.034;0.055;0.002;0.055;0.0	T	0.22487	-1.0215	9	0.16896	T	0.51	.	4.4744	0.11727	0.1722:0.0892:0.0:0.7386	.	11;11;11;11;11;11;11	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	R	11	ENSP00000354004:H11R;ENSP00000353452:H11R;ENSP00000352088:H11R;ENSP00000320622:H11R;ENSP00000418335:H11R	ENSP00000320622:H11R	H	-	2	0	MYLK	124995347	0.927000	0.31430	0.179000	0.23059	0.647000	0.38526	1.633000	0.37113	0.959000	0.37980	0.533000	0.62120	CAC		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		Missense_Mutation
MYPN	84665	hgsc.bcm.edu	37	10	69955239	69955239	+	Silent	SNP	A	A	T			TCGA-09-1659-01	TCGA-09-1659-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr10:69955239A>T	ENST00000358913.5	+	15	3596	c.3108A>T	c.(3106-3108)gtA>gtT	p.V1036V	MYPN_ENST00000540630.1_Silent_p.V1036V|MYPN_ENST00000354393.2_Silent_p.V761V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1036	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.V1036V(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACTTGATGGTACAAAGTTTGC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	10											104.0	100.0	101.0					10																	69955239		2203	4300	6503	69625245	SO:0001819	synonymous_variant	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3108A>T	10.37:g.69955239A>T		Somatic		Capture	SOLID	Phase_III	69625245	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	CCDS7275.1	SNP	14	Baylor																																																																																				0.438	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		Silent
PIAS2	9063	hgsc.bcm.edu	37	18	44408069	44408069	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr18:44408069C>A	ENST00000585916.1	-	11	1360	c.1361G>T	c.(1360-1362)tGt>tTt	p.C454F	PIAS2_ENST00000324794.7_Missense_Mutation_p.C454F|PIAS2_ENST00000545673.1_Missense_Mutation_p.C164F	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	454					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C454F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGTCACTGAACAAGGCTTACT	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											84.0	72.0	76.0					18																	44408069		2203	4300	6503	42662067	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1361G>T	18.37:g.44408069C>A	ENSP00000465676:p.Cys454Phe	Somatic		Capture	SOLID	Phase_III	42662067	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328418	0.41197	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.42900	0.96;1.53	5.49	4.6	0.57074	.	0.353403	0.33075	N	0.005318	T	0.33118	0.0852	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.23650	0.04;0.084;0.069;0.089	B;B;B;B	0.25614	0.032;0.058;0.062;0.045	T	0.09378	-1.0677	10	0.09843	T	0.71	-4.8687	15.8279	0.78727	0.1369:0.8631:0.0:0.0	.	164;454;454;454	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	F	454;454;164;454	ENSP00000443238:C164F;ENSP00000317163:C454F	ENSP00000262161:C454F	C	-	2	0	PIAS2	42662067	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.797000	0.47877	1.402000	0.46780	0.655000	0.94253	TGT		0.383	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		Missense_Mutation
PREB	10113	hgsc.bcm.edu	37	2	27354542	27354542	+	Missense_Mutation	SNP	C	C	T	rs145631757	byFrequency	TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr2:27354542C>T	ENST00000260643.2	-	8	1410	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Missense_Mutation_p.R328Q	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	386					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R386Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACTCACGCCGTGAGGGCAA	0.607													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19960	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	2						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	99.0	98.0		1157	4.0	1.0	2	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREB	NM_013388.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	386/418	27354542	2,13004	2203	4300	6503	27208046	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.1157G>A	2.37:g.27354542C>T	ENSP00000260643:p.Arg386Gln	Somatic		Capture	SOLID	Phase_III	27208046	Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	CCDS1738.1	SNP	23	Baylor	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266654	0.80358	2.27E-4	1.16E-4	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.80653	-1.4;-1.29	4.9	4.01	0.46588	.	0.203741	0.42172	D	0.000750	D	0.86243	0.5886	M	0.78456	2.415	0.46499	D	0.999079	D;D	0.89917	1.0;0.999	P;P	0.59546	0.859;0.766	D	0.85445	0.1157	10	0.38643	T	0.18	-22.0571	11.1222	0.48298	0.0:0.814:0.186:0.0	.	328;386	B5MC98;Q9HCU5	.;PREB_HUMAN	Q	386;328;386	ENSP00000260643:R386Q;ENSP00000384032:R328Q	ENSP00000260643:R386Q	R	-	2	0	PREB	27208046	0.949000	0.32298	0.997000	0.53966	0.943000	0.58893	5.088000	0.64486	1.265000	0.44215	0.655000	0.94253	CGG		0.607	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		Missense_Mutation
PRPF40B	25766	hgsc.bcm.edu	37	12	50024398	50024398	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr12:50024398C>T	ENST00000380281.1	+	1	72	c.8C>T	c.(7-9)cCa>cTa	p.P3L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P25L|PRPF40B_ENST00000261897.1_Intron			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	3	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.P3L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCATGATGCCACCACCCTTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											61.0	45.0	50.0					12																	50024398		2203	4299	6502	48310665	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.8C>T	12.37:g.50024398C>T	ENSP00000369634:p.Pro3Leu	Somatic		Capture	SOLID	Phase_III	48310665	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		SNP	21	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061695	0.55432	.	.	ENSG00000110844	ENST00000551063;ENST00000548825;ENST00000380281	T;T	0.32988	1.67;1.43	4.82	4.82	0.62117	.	0.000000	0.38326	N	0.001733	T	0.32556	0.0833	N	0.08118	0	0.45330	D	0.99832	D;D	0.71674	0.998;0.997	D;D	0.78314	0.981;0.991	T	0.13361	-1.0512	9	.	.	.	-8.1688	13.5879	0.61942	0.0:1.0:0.0:0.0	.	3;3	Q6NWY9;Q6NWY9-3	PR40B_HUMAN;.	L	3;25;3	ENSP00000448073:P25L;ENSP00000369634:P3L	.	P	+	2	0	PRPF40B	48310665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.126000	0.57937	2.669000	0.90835	0.591000	0.81541	CCA		0.622	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		Missense_Mutation
SLC6A20	54716	hgsc.bcm.edu	37	3	45823692	45823692	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1659-01	TCGA-09-1659-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr3:45823692T>G	ENST00000358525.4	-	2	260	c.145A>C	c.(145-147)Atc>Ctc	p.I49L	SLC6A20_ENST00000456124.2_Missense_Mutation_p.I49L|SLC6A20_ENST00000353278.4_Missense_Mutation_p.I49L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	49					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.I49L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ATAAGCATGATGATGTAGGGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											103.0	79.0	87.0					3																	45823692		2203	4300	6503	45798696	SO:0001583	missense	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.145A>C	3.37:g.45823692T>G	ENSP00000346298:p.Ile49Leu	Somatic		Capture	SOLID	Phase_III	45798696	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	SNP	51	Baylor	.	.	.	.	.	.	.	.	.	.	t	16.09	3.025017	0.54683	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.75367	-0.93;-0.93;-0.93	5.15	-0.0749	0.13728	.	0.291554	0.32687	N	0.005776	T	0.58452	0.2123	L	0.38649	1.16	0.32356	N	0.557754	B;B	0.21309	0.054;0.039	B;B	0.25140	0.034;0.058	T	0.50381	-0.8835	10	0.32370	T	0.25	.	5.8327	0.18588	0.0:0.2102:0.1296:0.6602	.	49;49	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	L	49	ENSP00000296133:I49L;ENSP00000346298:I49L;ENSP00000404310:I49L	ENSP00000296133:I49L	I	-	1	0	SLC6A20	45798696	1.000000	0.71417	0.980000	0.43619	0.967000	0.64934	0.862000	0.27899	-0.228000	0.09869	0.449000	0.29647	ATC		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		Missense_Mutation
SNTG1	54212	hgsc.bcm.edu	37	8	51465654	51465654	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1659-01	TCGA-09-1659-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr8:51465654G>T	ENST00000522124.1	+	12	1386	c.725G>T	c.(724-726)gGg>gTg	p.G242V	SNTG1_ENST00000517473.1_Missense_Mutation_p.G242V|SNTG1_ENST00000518864.1_Missense_Mutation_p.G242V|SNTG1_ENST00000276467.5_Missense_Mutation_p.G242V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	242					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.G242V(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTCTGCACTGGGATTATTCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	8											153.0	130.0	138.0					8																	51465654		2203	4300	6503	51628207	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.725G>T	8.37:g.51465654G>T	ENSP00000429842:p.Gly242Val	Somatic		Capture	SOLID	Phase_III	51628207	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	SNP	43	Baylor	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265487	0.59431	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.64398	-0.6417	10	0.15499	T	0.54	.	17.7901	0.88550	0.0:0.0:1.0:0.0	.	242;242	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	242	ENSP00000429276:G242V;ENSP00000429842:G242V;ENSP00000431123:G242V;ENSP00000276467:G242V	ENSP00000276467:G242V	G	+	2	0	SNTG1	51628207	1.000000	0.71417	0.997000	0.53966	0.212000	0.24457	8.820000	0.92003	2.437000	0.82529	0.558000	0.71614	GGG		0.418	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			Missense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-1659-01	TCGA-09-1659-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGAGGCTCCCCTTTCTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	17											109.0	95.0	100.0					17																	7577058		2203	4300	6503	7517783	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*	Somatic		Capture	SOLID	Phase_III	7517783	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Nonsense_Mutation
TRIM36	55521	hgsc.bcm.edu	37	5	114482962	114482962	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1659-01	TCGA-09-1659-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr5:114482962T>A	ENST00000282369.3	-	3	549	c.428A>T	c.(427-429)gAa>gTa	p.E143V	TRIM36_ENST00000513154.1_Missense_Mutation_p.E131V|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	143					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E143V(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACGATATCTTTCCACAATAGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											175.0	163.0	167.0					5																	114482962		2202	4300	6502	114510861	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.428A>T	5.37:g.114482962T>A	ENSP00000282369:p.Glu143Val	Somatic		Capture	SOLID	Phase_III	114510861	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	SNP	62	Baylor	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196232	0.78902	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.88509	-2.39;-2.39;-2.39	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.963;0.991	D	0.96225	0.9163	10	0.87932	D	0	.	15.4037	0.74861	0.0:0.0:0.0:1.0	.	131;143	E9PFI8;Q9NQ86	.;TRI36_HUMAN	V	143;131;141	ENSP00000282369:E143V;ENSP00000423934:E131V;ENSP00000424743:E141V	ENSP00000282369:E143V	E	-	2	0	TRIM36	114510861	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.587000	0.82613	2.028000	0.59812	0.482000	0.46254	GAA		0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		Missense_Mutation
USP36	57602	hgsc.bcm.edu	37	17	76798549	76798554	+	In_Frame_Del	DEL	TTTTTC	TTTTTC	-	rs200324254|rs71964596		TCGA-09-1659-01	TCGA-09-1659-10	TTTTTC	TTTTTC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr17:76798549_76798554delTTTTTC	ENST00000542802.3	-	17	3317_3322	c.2874_2879delGAAAAA	c.(2872-2880)aagaaaaaa>aaa	p.958_960KKK>K	USP36_ENST00000449938.2_In_Frame_Del_p.563_565KKK>K|USP36_ENST00000312010.6_In_Frame_Del_p.958_960KKK>K			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	956					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.K959_K960delKK(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTGCTTTCTTTTTTTCTTTTTCTTTT	0.534														1638	0.327077	0.0454	0.4092	5008	,	,		13018	0.4107		0.5129	False		,,,				2504	0.3722															1	Deletion - In frame(1)	ovary(1)	17								526,3738		42,442,1648						-4.5	0.0		dbSNP_130	46	4276,3978		1111,2054,962	no	coding	USP36	NM_025090.3		1153,2496,2610	A1A1,A1R,RR		48.1948,12.3358,38.3608				4802,7716				74310149	SO:0001651	inframe_deletion	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2874_2879delGAAAAA	17.37:g.76798555_76798560delTTTTTC	ENSP00000441214:p.Lys958_Lys959del	Somatic		Capture	SOLID	Phase_III	74310144	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	In_Frame_Del	DEL	ENST00000542802.3	37	CCDS32755.1	DEL	64	Baylor																																																																																				0.534	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		In_Frame_Del
ZIM2	23619	hgsc.bcm.edu	37	19	57293433	57293433	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1659-01	TCGA-09-1659-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-09-1659-01	TCGA-09-1659-10	g.chr19:57293433G>T	ENST00000391708.3	-	10	1076	c.534C>A	c.(532-534)ttC>ttA	p.F178L	AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.F178L|ZIM2_ENST00000221722.5_Missense_Mutation_p.F178L|ZIM2_ENST00000593711.1_Missense_Mutation_p.F178L|ZIM2_ENST00000601070.1_Missense_Mutation_p.F178L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	178	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F178L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GCACATCCTCGAAGGTCACCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											173.0	151.0	158.0					19																	57293433		2203	4300	6503	61985245	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.534C>A	19.37:g.57293433G>T	ENSP00000375589:p.Phe178Leu	Somatic		Capture	SOLID	Phase_III	61985245	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342375	0.24339	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.07114	3.22;3.22	5.21	-3.62	0.04543	Krueppel-associated box (4);	.	.	.	.	T	0.24890	0.0604	M	0.86502	2.82	.	.	.	D	0.58268	0.982	D	0.68483	0.958	T	0.13469	-1.0508	8	0.72032	D	0.01	.	6.3876	0.21569	0.4783:0.0:0.4029:0.1188	.	178	Q9NZV7	ZIM2_HUMAN	L	178	ENSP00000375589:F178L;ENSP00000221722:F178L	ENSP00000221722:F178L	F	-	3	2	ZIM2	61985245	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.126000	0.03254	-0.902000	0.03886	-1.731000	0.00696	TTC		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			Missense_Mutation
