#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_TranscriptID	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_refseq_mrna_id	i_secondary_variant_classification
C7orf31	136895	hgsc.bcm.edu	37	7	25218812	25218812	+	Missense_Mutation	SNP	G	G	A	rs150321911		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr7:25218812G>A	ENST00000409280.1	-	2	424	c.116C>T	c.(115-117)cCa>cTa	p.P39L	C7orf31_ENST00000283905.3_Missense_Mutation_p.P39L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	39								p.P39L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAGGCAGTTGGGCGAGTAAC	0.418																																					p.P39L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116T	7						.	G	LEU/PRO	1,4405		0,1,2202	124.0	118.0	120.0		116	4.4	1.0	7	dbSNP_134	120	0,8600		0,0,4300	no	missense	C7orf31	NM_138811.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	39/591	25218812	1,13005	2203	4300	6503	25185337	SO:0001583	missense	136895	exon2			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.116C>T	7.37:g.25218812G>A	ENSP00000386604:p.Pro39Leu	Somatic		Capture	SOLID	Phase_I	25185337	NM_138811	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	N	10.51	1.369872	0.24771	2.27E-4	0.0	ENSG00000153790	ENST00000409280;ENST00000283905;ENST00000443822;ENST00000415598;ENST00000444434	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.33	4.44	0.53790	.	0.208529	0.33959	N	0.004392	T	0.10423	0.0255	M	0.67953	2.075	0.49130	D	0.999754	B	0.13594	0.008	B	0.17098	0.017	T	0.09729	-1.0661	10	0.02654	T	1	-27.6982	9.0029	0.36092	0.0989:0.0:0.9011:0.0	.	39	Q8N865	CG031_HUMAN	L	39	ENSP00000386604:P39L;ENSP00000283905:P39L;ENSP00000388472:P39L;ENSP00000391212:P39L;ENSP00000403281:P39L	ENSP00000283905:P39L	P	-	2	0	C7orf31	25185337	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	1.692000	0.37731	2.505000	0.84491	0.650000	0.86243	CCA		0.418	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811	
ADCY1	107	hgsc.bcm.edu	37	7	45726267	45726267	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr7:45726267G>A	ENST00000297323.7	+	14	2471	c.2449G>A	c.(2449-2451)Gca>Aca	p.A817T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	817					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A817T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCTGGGCCGCACAGGCAAG	0.612																																					p.A817T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2449A	7						.						37.0	41.0	39.0					7																	45726267		2203	4300	6503	45692792	SO:0001583	missense	107	exon14			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2449G>A	7.37:g.45726267G>A	ENSP00000297323:p.Ala817Thr	Somatic		Capture	SOLID	Phase_I	45692792	NM_021116	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147736	0.21288	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79141	-1.24	4.7	2.57	0.30868	.	0.589034	0.18089	N	0.152058	T	0.50000	0.1590	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32268	-0.9913	10	0.11485	T	0.65	.	8.0292	0.30454	0.091:0.2306:0.6785:0.0	.	817	Q08828	ADCY1_HUMAN	T	817	ENSP00000297323:A817T	ENSP00000297323:A817T	A	+	1	0	ADCY1	45692792	0.186000	0.23225	0.079000	0.20413	0.563000	0.35712	1.635000	0.37134	0.343000	0.23821	0.561000	0.74099	GCA		0.612	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121691507	121691508	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr7:121691507_121691508delAG	ENST00000393386.2	+	24	6521_6522	c.6110_6111delAG	c.(6109-6111)cagfs	p.Q2037fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.Q1170fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2037	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATATACAGCAGAGTGACTATT	0.381																																					p.2037_2037del												.	.	0			c.6110_6111del	7						.																																			121478744	SO:0001589	frameshift_variant	5803	exon24			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6110_6111delAG	7.37:g.121691509_121691510delAG	ENSP00000377047:p.Gln2037fs	Somatic		Capture	SOLID	Phase_I	121478743	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Del	DEL	ENST00000393386.2	37	CCDS34740.1																																																																																				0.381	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
RBM39	9584	hgsc.bcm.edu	37	20	34312587	34312587	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr20:34312587A>G	ENST00000253363.6	-	8	615	c.592T>C	c.(592-594)Tat>Cat	p.Y198H	RBM39_ENST00000528062.3_Missense_Mutation_p.Y176H|RBM39_ENST00000361162.6_Missense_Mutation_p.Y198H|RBM39_ENST00000407261.4_Missense_Mutation_p.Y41H			Q14498	RBM39_HUMAN	RNA binding motif protein 39	198	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y198H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AACTCCACATAAGCAATTCCT	0.418																																					p.Y198H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T592C	20						.						138.0	126.0	130.0					20																	34312587		2203	4300	6503	33776001	SO:0001583	missense	9584	exon8			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.592T>C	20.37:g.34312587A>G	ENSP00000253363:p.Tyr198His	Somatic		Capture	SOLID	Phase_I	33776001	NM_004902	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.115913|5.115913	0.94339|0.94339	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000448303|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038;ENST00000427743	.|T;T;T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27;2.27;2.27	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44540|0.44540	0.1298|0.1298	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	T|T	0.46610|0.46610	-0.9179|-0.9179	5|10	.|0.87932	.|D	.|0	.|.	15.6958|15.6958	0.77494|0.77494	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|176;176;198;198;174	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	S|H	70|198;198;176;41;197;176	.|ENSP00000253363:Y198H;ENSP00000354437:Y198H;ENSP00000436747:Y176H;ENSP00000384541:Y41H;ENSP00000363150:Y197H;ENSP00000406801:Y176H	.|ENSP00000253363:Y198H	L|Y	-|-	2|1	0|0	RBM39|RBM39	33776001|33776001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.246000|9.246000	0.95438|0.95438	2.158000|2.158000	0.67659|0.67659	0.456000|0.456000	0.33151|0.33151	TTA|TAT		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
ZNF616	90317	hgsc.bcm.edu	37	19	52618566	52618566	+	Silent	SNP	G	G	A			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr19:52618566G>A	ENST00000600228.1	-	4	2112	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	617					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.G617G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGAGTGTGGAGCCCTGATTAA	0.423																																					p.G617G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1851T	19						.						73.0	69.0	70.0					19																	52618566		2203	4300	6503	57310378	SO:0001819	synonymous_variant	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1851C>T	19.37:g.52618566G>A		Somatic		Capture	SOLID	Phase_I	57310378	NM_178523	B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	CCDS33090.1																																																																																				0.423	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
BNIP3L	665	hgsc.bcm.edu	37	8	26265546	26265546	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr8:26265546G>A	ENST00000380629.2	+	4	621	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	BNIP3L_ENST00000518611.1_Missense_Mutation_p.E90K|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000520409.1_Missense_Mutation_p.E90K|BNIP3L_ENST00000523515.1_Missense_Mutation_p.E90K	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	130					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E130K(1)		large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		AGGAGAGAAGGAAGTCGAGGC	0.398																																					p.E130K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	8						.						94.0	88.0	90.0					8																	26265546		2203	4300	6503	26321463	SO:0001583	missense	665	exon4			AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.388G>A	8.37:g.26265546G>A	ENSP00000370003:p.Glu130Lys	Somatic		Capture	SOLID	Phase_I	26321463	NM_004331	B0AZS9|Q5JW63|Q8NF87	Missense_Mutation	SNP	ENST00000380629.2	37	CCDS6050.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226692	0.95173	.	.	ENSG00000104765	ENST00000380629;ENST00000221209;ENST00000523949;ENST00000523515;ENST00000520409;ENST00000518611	.	.	.	6.01	6.01	0.97437	.	0.218316	0.56097	D	0.000037	T	0.73001	0.3531	M	0.80616	2.505	0.58432	D	0.999996	B;P	0.47484	0.117;0.896	B;P	0.46510	0.055;0.519	T	0.75780	-0.3197	9	0.59425	D	0.04	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	90;130	B0AZS9;O60238	.;BNI3L_HUMAN	K	130;130;108;90;90;90	.	ENSP00000221209:E130K	E	+	1	0	BNIP3L	26321463	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.520000	0.81821	2.861000	0.98227	0.650000	0.86243	GAA		0.398	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331	
MRTO4	51154	hgsc.bcm.edu	37	1	19585207	19585207	+	Silent	SNP	G	G	A	rs2294939	byFrequency	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr1:19585207G>A	ENST00000330263.4	+	8	900	c.603G>A	c.(601-603)aaG>aaA	p.K201K		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	201					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K201K(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTCAAGGTGACCATCA	0.478													.|||	547	0.109225	0.087	0.0908	5008	,	,		19401	0.1012		0.1262	False		,,,				2504	0.1431				p.K201K	GBM(192;2418 3032 7540 48714)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|stomach(1)	c.G603A	1						.	G		455,3951	215.8+/-234.7	22,411,1770	110.0	107.0	108.0		603	-2.8	1.0	1	dbSNP_100	108	1239,7361	248.3+/-276.0	102,1035,3163	no	coding-synonymous	MRTO4	NM_016183.3		124,1446,4933	AA,AG,GG		14.407,10.3268,13.0248		201/240	19585207	1694,11312	2203	4300	6503	19457794	SO:0001819	synonymous_variant	51154	exon8			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.603G>A	1.37:g.19585207G>A		Somatic		Capture	SOLID	Phase_I	19457794	NM_016183	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	CCDS191.1																																																																																				0.478	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183	
LRRC7	57554	hgsc.bcm.edu	37	1	70504820	70504820	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr1:70504820G>A	ENST00000035383.5	+	19	3229	c.3199G>A	c.(3199-3201)Gcc>Acc	p.A1067T	LRRC7_ENST00000310961.5_Missense_Mutation_p.A1072T|LRRC7_ENST00000415775.2_Missense_Mutation_p.A351T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1067						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A1067T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAAAAACATCGCCAAGGATTT	0.463																																					p.A1067T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3199A	1						.						66.0	71.0	69.0					1																	70504820		2203	4300	6503	70277408	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3199G>A	1.37:g.70504820G>A	ENSP00000035383:p.Ala1067Thr	Somatic		Capture	SOLID	Phase_I	70277408	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	2.445	-0.327808	0.05314	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38722	1.12;1.18;2.28	5.76	1.87	0.25490	.	0.189978	0.45867	N	0.000331	T	0.14270	0.0345	L	0.48642	1.525	0.26739	N	0.970438	B;P;P	0.43885	0.005;0.82;0.553	B;B;B	0.39217	0.003;0.294;0.028	T	0.10474	-1.0628	10	0.33940	T	0.23	.	6.8269	0.23889	0.2764:0.1239:0.5996:0.0	.	351;1067;1067	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1072;1067;351;890	ENSP00000309245:A1072T;ENSP00000035383:A1067T;ENSP00000394867:A351T	ENSP00000035383:A1067T	A	+	1	0	LRRC7	70277408	0.760000	0.28428	0.168000	0.22838	0.001000	0.01503	1.111000	0.31159	0.103000	0.17682	-0.122000	0.15005	GCC		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
ERICH3	127254	hgsc.bcm.edu	37	1	75097440	75097440	+	Missense_Mutation	SNP	C	C	T	rs372763080		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr1:75097440C>T	ENST00000326665.5	-	7	994	c.776G>A	c.(775-777)cGt>cAt	p.R259H	C1orf173_ENST00000420661.2_Missense_Mutation_p.R62H	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		259	Poly-Arg.							p.R259H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGTGGTTGGACGAAATCTTCT	0.363																																					p.R259H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776A	1						.	C	HIS/ARG	0,4406		0,0,2203	187.0	169.0	175.0		776	3.5	1.0	1		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf173	NM_001002912.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	259/1531	75097440	1,13005	2203	4300	6503	74870028	SO:0001583	missense	127254	exon7																														ENST00000326665.5:c.776G>A	1.37:g.75097440C>T	ENSP00000322609:p.Arg259His	Somatic		Capture	SOLID	Phase_I	74870028	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269767	0.23221	0.0	1.16E-4	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.32023	1.92;1.47	5.39	3.54	0.40534	.	.	.	.	.	T	0.16938	0.0407	M	0.73598	2.24	0.43275	D	0.995234	B;P	0.49185	0.056;0.92	B;B	0.35413	0.026;0.202	T	0.04900	-1.0919	9	0.51188	T	0.08	-7.0247	11.9711	0.53063	0.0:0.8578:0.0:0.1422	.	62;259	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	H	259;62	ENSP00000322609:R259H;ENSP00000398581:R62H	ENSP00000322609:R259H	R	-	2	0	C1orf173	74870028	0.997000	0.39634	0.990000	0.47175	0.086000	0.17979	2.271000	0.43364	0.681000	0.31386	-0.769000	0.03391	CGT		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ABL2	27	hgsc.bcm.edu	37	1	179077529	179077529	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr1:179077529A>C	ENST00000502732.1	-	12	3076	c.2873T>G	c.(2872-2874)tTc>tGc	p.F958C	ABL2_ENST00000504405.1_Missense_Mutation_p.F819C|ABL2_ENST00000344730.3_Missense_Mutation_p.F840C|ABL2_ENST00000408940.3_Missense_Mutation_p.F922C|ABL2_ENST00000367623.4_Missense_Mutation_p.F937C|ABL2_ENST00000511413.1_Missense_Mutation_p.F855C|ABL2_ENST00000512653.1_Missense_Mutation_p.F943C|ABL2_ENST00000507173.1_Missense_Mutation_p.F834C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	958	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.F922C(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TAAGAGCTTGAATTTATTCCC	0.527			T	ETV6	AML																																p.F819C			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2456G	1						.						103.0	98.0	100.0					1																	179077529		2203	4300	6503	177344152	SO:0001583	missense	27	exon12			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2873T>G	1.37:g.179077529A>C	ENSP00000427562:p.Phe958Cys	Somatic		Capture	SOLID	Phase_I	177344152	NM_001168239	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683668	0.47991	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.4	5.4	0.78164	.	0.115830	0.38492	N	0.001669	T	0.42337	0.1198	L	0.55481	1.735	0.48236	D	0.999618	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.988;0.999;1.0;1.0;1.0;0.999	D;D;P;D;D;D;D;D	0.87578	0.998;0.982;0.73;0.992;0.995;0.998;0.995;0.994	T	0.26087	-1.0113	10	0.62326	D	0.03	.	14.908	0.70735	1.0:0.0:0.0:0.0	.	937;834;855;819;958;943;922;840	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	C	958;922;840;943;819;937;834;855	ENSP00000427562:F958C;ENSP00000386152:F922C;ENSP00000339209:F840C;ENSP00000423578:F943C;ENSP00000426831:F819C;ENSP00000356595:F937C;ENSP00000423413:F834C;ENSP00000424697:F855C	ENSP00000339209:F840C	F	-	2	0	ABL2	177344152	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.566000	0.90734	2.164000	0.68074	0.533000	0.62120	TTC		0.527	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
PVRL1	5818	hgsc.bcm.edu	37	11	119548381	119548381	+	Missense_Mutation	SNP	G	G	A	rs140089588		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr11:119548381G>A	ENST00000264025.3	-	3	1147	c.617C>T	c.(616-618)aCg>aTg	p.T206M	PVRL1_ENST00000341398.2_Missense_Mutation_p.T206M|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.T206M	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	206	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.T206M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTGATGACCGTCACTGTGCC	0.587																																					p.T206M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C617T	11						.		MET/THR,MET/THR,MET/THR	0,4398		0,0,2199	149.0	133.0	138.0		617,617,617	5.2	1.0	11	dbSNP_134	138	2,8588	2.2+/-6.3	0,2,4293	no	missense,missense,missense	PVRL1	NM_002855.4,NM_203285.1,NM_203286.1	81,81,81	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	206/518,206/459,206/353	119548381	2,12986	2199	4295	6494	119053591	SO:0001583	missense	5818	exon3			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.617C>T	11.37:g.119548381G>A	ENSP00000264025:p.Thr206Met	Somatic		Capture	SOLID	Phase_I	119053591	NM_002855	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.289132	0.80914	0.0	2.33E-4	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.80824	-1.42;-1.42;-1.42	5.21	5.21	0.72293	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91885	0.5519	9	.	.	.	.	17.7366	0.88395	0.0:0.0:1.0:0.0	.	206;206;206	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	M	206	ENSP00000344974:T206M;ENSP00000264025:T206M;ENSP00000345289:T206M	.	T	-	2	0	PVRL1	119053591	1.000000	0.71417	0.965000	0.40720	0.775000	0.43874	9.468000	0.97676	2.450000	0.82876	0.556000	0.70494	ACG		0.587	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
KCNQ5	56479	hgsc.bcm.edu	37	6	73905003	73905003	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr6:73905003G>A	ENST00000370398.1	+	14	2774	c.2665G>A	c.(2665-2667)Gca>Aca	p.A889T	KCNQ5_ENST00000402622.2_Missense_Mutation_p.A899T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A890T|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A889T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A779T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A908T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A880T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	889					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.A889T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTTGATGCCGCACCGCAGCC	0.488																																					p.A908T	GBM(142;1375 1859 14391 23261 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2722A	6						.						93.0	98.0	96.0					6																	73905003		2203	4300	6503	73961724	SO:0001583	missense	56479	exon15			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2665G>A	6.37:g.73905003G>A	ENSP00000359425:p.Ala889Thr	Somatic		Capture	SOLID	Phase_I	73961724	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	4.915	0.170034	0.09339	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99282	-5.5;-5.49;-5.49;-5.5;-5.49;-5.53;-5.68	5.97	-2.84	0.05751	.	1.037890	0.07574	N	0.918964	D	0.92414	0.7592	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.19706	0.038;0.001;0.002;0.003;0.019	B;B;B;B;B	0.11329	0.006;0.002;0.001;0.001;0.003	D	0.87191	0.2234	10	0.25751	T	0.34	.	13.6358	0.62221	0.654:0.0:0.346:0.0	.	779;899;908;880;889	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	T	908;908;889;889;899;890;880;779	ENSP00000345055:A908T;ENSP00000347326:A889T;ENSP00000359425:A889T;ENSP00000385501:A899T;ENSP00000347853:A890T;ENSP00000384453:A880T;ENSP00000409861:A779T	ENSP00000345055:A908T	A	+	1	0	KCNQ5	73961724	0.000000	0.05858	0.000000	0.03702	0.623000	0.37688	0.216000	0.17585	-0.410000	0.07542	0.650000	0.86243	GCA		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
ADORA2B	136	hgsc.bcm.edu	37	17	15878403	15878403	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr17:15878403C>T	ENST00000304222.2	+	2	1078	c.746C>T	c.(745-747)cCt>cTt	p.P249L	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	249	Agonist binding. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.P249L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	TGCTGGTTACCTGTGCATGCT	0.512																																					p.P249L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	17						.						151.0	106.0	121.0					17																	15878403		2203	4300	6503	15819128	SO:0001583	missense	136	exon2			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"""GPCR / Class A : Adenosine receptors"""	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.746C>T	17.37:g.15878403C>T	ENSP00000304501:p.Pro249Leu	Somatic		Capture	SOLID	Phase_I	15819128	NM_000676		Missense_Mutation	SNP	ENST00000304222.2	37	CCDS11173.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668006	0.67814	.	.	ENSG00000170425	ENST00000304222	T	0.79845	-1.31	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93530	0.7935	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.95144	0.8266	10	0.87932	D	0	-9.3303	19.0089	0.92865	0.0:1.0:0.0:0.0	.	249	P29275	AA2BR_HUMAN	L	249	ENSP00000304501:P249L	ENSP00000304501:P249L	P	+	2	0	ADORA2B	15819128	1.000000	0.71417	0.387000	0.26183	0.363000	0.29612	7.487000	0.81328	2.739000	0.93911	0.563000	0.77884	CCT		0.512	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1		
GSDMB	55876	hgsc.bcm.edu	37	17	38066131	38066131	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr17:38066131T>C	ENST00000394179.1	-	4	584	c.454A>G	c.(454-456)Aga>Gga	p.R152G	GSDMB_ENST00000360317.3_Missense_Mutation_p.R152G|GSDMB_ENST00000394175.2_Missense_Mutation_p.R152G|GSDMB_ENST00000309481.7_Missense_Mutation_p.R152G|GSDMB_ENST00000520542.1_Missense_Mutation_p.R152G|GSDMB_ENST00000418519.1_Missense_Mutation_p.R152G			Q8TAX9	GSDMB_HUMAN	gasdermin B	152						cytoplasm (GO:0005737)		p.R152G(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AGGTTTTCTCTCGTATTAATT	0.473																																					p.R152G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A454G	17						.						103.0	107.0	105.0					17																	38066131		2203	4300	6503	35319657	SO:0001583	missense	55876	exon4			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.454A>G	17.37:g.38066131T>C	ENSP00000377733:p.Arg152Gly	Somatic		Capture	SOLID	Phase_I	35319657	NM_001042471	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37		.	.	.	.	.	.	.	.	.	.	T	8.099	0.776255	0.16051	.	.	ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	3.58	-2.58	0.06228	.	1.523810	0.03667	N	0.243424	T	0.13798	0.0334	N	0.10874	0.06	0.09310	N	1	B;B;B;B	0.12013	0.002;0.005;0.005;0.005	B;B;B;B	0.15052	0.012;0.003;0.003;0.003	T	0.26467	-1.0102	10	0.21014	T	0.42	.	9.1721	0.37089	0.0:0.5934:0.0:0.4066	.	152;152;152;152	B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.;.;.;.	G	152	ENSP00000353465:R152G;ENSP00000377729:R152G;ENSP00000312584:R152G;ENSP00000430157:R152G;ENSP00000415049:R152G;ENSP00000377733:R152G	ENSP00000312584:R152G	R	-	1	2	GSDMB	35319657	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.247000	0.08866	-0.467000	0.06932	-0.314000	0.08810	AGA		0.473	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530	
TP53	7157	hgsc.bcm.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)																											p.R248W	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,haematopoietic_and_lymphoid_tissue,lymph_node,Substitution - Missense,+1	.	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	c.C742T	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651	.						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	exon7	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	Somatic		Capture	SOLID	Phase_I	7518264	NM_001126114	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
BZRAP1	9256	hgsc.bcm.edu	37	17	56385066	56385066	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr17:56385066A>T	ENST00000343736.4	-	24	5052	c.4889T>A	c.(4888-4890)tTt>tAt	p.F1630Y	BZRAP1_ENST00000355701.3_Missense_Mutation_p.F1630Y|BZRAP1_ENST00000268893.6_Missense_Mutation_p.F1570Y			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1630	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.F1630Y(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAGCCACAAAGATCCTGAC	0.577																																					p.F1630Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4889A	17						.						137.0	107.0	117.0					17																	56385066		2203	4300	6503	53740065	SO:0001583	missense	9256	exon24			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4889T>A	17.37:g.56385066A>T	ENSP00000345824:p.Phe1630Tyr	Somatic		Capture	SOLID	Phase_I	53740065	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	A	35	5.462013	0.96240	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.06608	3.28;3.28;3.28	5.79	5.79	0.91817	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.19112	0.55	0.48632	D	0.999687	D;D;D	0.89917	1.0;0.973;0.973	D;P;P	0.87578	0.998;0.718;0.74	T	0.05767	-1.0865	10	0.87932	D	0	.	15.3154	0.74074	1.0:0.0:0.0:0.0	.	1630;1570;1630	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Y	1630;1630;1570	ENSP00000347929:F1630Y;ENSP00000345824:F1630Y;ENSP00000268893:F1570Y	ENSP00000268893:F1570Y	F	-	2	0	BZRAP1	53740065	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.726000	0.91474	2.209000	0.71365	0.533000	0.62120	TTT		0.577	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
KIAA0195	9772	hgsc.bcm.edu	37	17	73482479	73482479	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr17:73482479G>T	ENST00000314256.7	+	5	775	c.381G>T	c.(379-381)agG>agT	p.R127S	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R137S|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	127						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R127S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGAGCGGAGGCTGCGAGGGA	0.582																																					p.R127S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	17						.						119.0	114.0	116.0					17																	73482479		2203	4300	6503	70994074	SO:0001583	missense	9772	exon5				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.381G>T	17.37:g.73482479G>T	ENSP00000313885:p.Arg127Ser	Somatic		Capture	SOLID	Phase_I	70994074	NM_014738	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123935	0.77436	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87491	-2.26;-2.26	4.98	2.88	0.33553	.	0.000000	0.85682	D	0.000000	D	0.86764	0.6011	L	0.27053	0.805	0.54753	D	0.999988	D;D	0.76494	0.999;0.981	D;D	0.80764	0.994;0.95	D	0.83944	0.0313	10	0.48119	T	0.1	-24.1208	7.8521	0.29462	0.3758:0.0:0.6242:0.0	.	137;127	C9JL75;Q12767	.;K0195_HUMAN	S	127;137	ENSP00000313885:R127S;ENSP00000364397:R137S	ENSP00000313885:R127S	R	+	3	2	KIAA0195	70994074	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.839000	0.27586	0.430000	0.26230	0.561000	0.74099	AGG		0.582	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
MBTPS1	8720	hgsc.bcm.edu	37	16	84132811	84132811	+	Nonsense_Mutation	SNP	G	G	A	rs34076105	byFrequency	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr16:84132811G>A	ENST00000343411.3	-	3	763	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	90			R -> G (in dbSNP:rs34076105).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.R90*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGATTGTTTCGAGGTATAATT	0.383																																					p.R90X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C268T	16						.						164.0	149.0	154.0					16																	84132811		2200	4300	6500	82690312	SO:0001587	stop_gained	8720	exon3			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.268C>T	16.37:g.84132811G>A	ENSP00000344223:p.Arg90*	Somatic		Capture	SOLID	Phase_I	82690312	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	41	8.909226	0.98998	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.82	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5247	13.9261	0.63964	0.0:0.0:0.7231:0.2769	.	.	.	.	X	90	.	ENSP00000344223:R90X	R	-	1	2	MBTPS1	82690312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.209000	0.51122	1.437000	0.47472	0.650000	0.86243	CGA		0.383	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
UROC1	131669	hgsc.bcm.edu	37	3	126211311	126211311	+	Missense_Mutation	SNP	C	C	T	rs374247096		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr3:126211311C>T	ENST00000290868.2	-	16	1611	c.1558G>A	c.(1558-1560)Gtg>Atg	p.V520M	UROC1_ENST00000383579.3_Missense_Mutation_p.V580M	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	520					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.V520M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCGATGGCCACGCGGCCCTTC	0.597																																					p.V520M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1558A	3						.	C	MET/VAL,MET/VAL	0,4406		0,0,2203	113.0	75.0	88.0		1738,1558	1.9	0.9	3		88	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UROC1	NM_001165974.1,NM_144639.2	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	580/737,520/677	126211311	2,13004	2203	4300	6503	127694001	SO:0001583	missense	131669	exon16			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1558G>A	3.37:g.126211311C>T	ENSP00000290868:p.Val520Met	Somatic		Capture	SOLID	Phase_I	127694001	NM_144639	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	6.112	0.388902	0.11581	0.0	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.43294	0.95;0.95	4.77	1.92	0.25849	Urocanase domain (2);	0.464409	0.22613	N	0.057819	T	0.30759	0.0775	L	0.42245	1.32	0.58432	D	0.999992	P;B	0.34724	0.465;0.322	B;B	0.36567	0.183;0.228	T	0.03534	-1.1027	10	0.16896	T	0.51	-16.2972	8.2101	0.31478	0.0:0.7324:0.0:0.2676	.	580;520	E9PE13;Q96N76	.;HUTU_HUMAN	M	520;580	ENSP00000290868:V520M;ENSP00000373073:V580M	ENSP00000290868:V520M	V	-	1	0	UROC1	127694001	0.965000	0.33210	0.871000	0.34182	0.483000	0.33249	2.097000	0.41748	0.974000	0.38366	0.460000	0.39030	GTG		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
B3GALNT1	8706	hgsc.bcm.edu	37	3	160803732	160803732	+	Missense_Mutation	SNP	C	C	T	rs104893683		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr3:160803732C>T	ENST00000392781.2	-	8	1558	c.811G>A	c.(811-813)Ggg>Agg	p.G271R	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.G271R|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.G271R|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.G271R|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.G271R|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.G271R	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	271			G -> R (associated with P1(k) phenotype). {ECO:0000269|PubMed:12023287}.		oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.G271R(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAACAGATCCCGACATAAACA	0.368																																					p.G271R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	3	GRCh37	CM023768	B3GALNT1	M	rs104893683	.						56.0	56.0	56.0					3																	160803732		2203	4300	6503	162286426	SO:0001583	missense	8706	exon4			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.811G>A	3.37:g.160803732C>T	ENSP00000376532:p.Gly271Arg	Somatic		Capture	SOLID	Phase_I	162286426	NM_033168	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657924	0.88154	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	D	0.88702	0.6508	H	0.97077	3.935	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91823	0.5469	9	0.87932	D	0	.	19.1118	0.93319	0.0:1.0:0.0:0.0	.	271	O75752	B3GL1_HUMAN	R	271	ENSP00000323479:G271R;ENSP00000376530:G271R;ENSP00000376531:G271R;ENSP00000376532:G271R;ENSP00000418226:G271R;ENSP00000420163:G271R	ENSP00000323479:G271R	G	-	1	0	B3GALNT1	162286426	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.699000	0.84547	2.759000	0.94783	0.561000	0.74099	GGG		0.368	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12A	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35C	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	Somatic		Capture	SOLID	Phase_I	25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
USP44	84101	hgsc.bcm.edu	37	12	95927076	95927076	+	Silent	SNP	T	T	C			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr12:95927076T>C	ENST00000258499.3	-	2	1245	c.957A>G	c.(955-957)agA>agG	p.R319R	USP44_ENST00000552440.1_Silent_p.R319R|USP44_ENST00000393091.2_Silent_p.R319R|USP44_ENST00000537435.2_Silent_p.R319R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	319	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R319R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCTTACAAGATCTTGTCTTCT	0.378																																					p.R319R												USP44,lung,NS,Substitution - Missense,-1	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A957G	12						.						65.0	60.0	62.0					12																	95927076		2203	4300	6503	94451207	SO:0001819	synonymous_variant	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.957A>G	12.37:g.95927076T>C		Somatic		Capture	SOLID	Phase_I	94451207	NM_001042403	B2RDW3	Silent	SNP	ENST00000258499.3	37	CCDS9053.1																																																																																				0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
ETNPPL	64850	hgsc.bcm.edu	37	4	109677613	109677613	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr4:109677613C>T	ENST00000296486.3	-	4	525	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	ETNPPL_ENST00000510706.1_Missense_Mutation_p.R84Q|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R118Q|ETNPPL_ENST00000512646.1_Missense_Mutation_p.R66Q	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	124						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.R124Q(1)									TCTGAACTGCCGAGCCAGGCG	0.423																																					p.R66Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	4						.						84.0	81.0	82.0					4																	109677613		2203	4300	6503	109897062	SO:0001583	missense	64850	exon3			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.371G>A	4.37:g.109677613C>T	ENSP00000296486:p.Arg124Gln	Somatic		Capture	SOLID	Phase_I	109897062	NM_001146627	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677231	0.68042	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706;ENST00000512320;ENST00000510723	T;T;T;T;D;D	0.87412	0.6;0.6;0.6;0.6;-2.25;-2.25	5.61	3.91	0.45181	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.173944	0.52532	N	0.000068	D	0.86485	0.5944	M	0.78456	2.415	0.53688	D	0.99997	B;B;B	0.16603	0.009;0.007;0.018	B;B;B	0.24006	0.04;0.024;0.05	T	0.81102	-0.1085	9	.	.	.	-10.0535	12.6129	0.56560	0.0:0.8649:0.0:0.1351	.	66;118;124	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	Q	124;118;66;84;51;66	ENSP00000296486:R124Q;ENSP00000392269:R118Q;ENSP00000427065:R66Q;ENSP00000423240:R84Q;ENSP00000421217:R51Q;ENSP00000426525:R66Q	.	R	-	2	0	AGXT2L1	109897062	0.972000	0.33761	0.998000	0.56505	0.956000	0.61745	4.002000	0.57053	0.752000	0.32923	-1.008000	0.02478	CGG		0.423	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
FAM47A	158724	hgsc.bcm.edu	37	X	34150044	34150044	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chrX:34150044C>T	ENST00000346193.3	-	1	403	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	118								p.V118I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGCTCTACGAACGCCTTC	0.547																																					p.V118I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	X						.						87.0	83.0	85.0					X																	34150044		2202	4300	6502	34059965	SO:0001583	missense	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.352G>A	X.37:g.34150044C>T	ENSP00000345029:p.Val118Ile	Somatic		Capture	SOLID	Phase_I	34059965	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467786	0.26335	.	.	ENSG00000185448	ENST00000346193	T	0.18502	2.21	1.1	-0.947	0.10382	.	.	.	.	.	T	0.10723	0.0262	L	0.43701	1.375	0.09310	N	1	P	0.36222	0.544	B	0.28385	0.089	T	0.16660	-1.0395	9	0.51188	T	0.08	.	4.0132	0.09632	0.0:0.4843:0.0:0.5157	.	118	Q5JRC9	FA47A_HUMAN	I	118	ENSP00000345029:V118I	ENSP00000345029:V118I	V	-	1	0	FAM47A	34059965	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	-1.188000	0.03064	-0.485000	0.06754	-0.411000	0.06167	GTA		0.547	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
DHX57	90957	hgsc.bcm.edu	37	2	39070312	39070323	+	In_Frame_Del	DEL	TCATGGACCGCA	TCATGGACCGCA	-	rs374756219|rs140333800		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	TCATGGACCGCA	TCATGGACCGCA	TCATGGACCGCA	-	TCATGGACCGCA	TCATGGACCGCA	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr2:39070312_39070323delTCATGGACCGCA	ENST00000295373.6	-	12	2375_2386	c.2249_2260delTGCGGTCCATGA	c.(2248-2262)atgcggtccatgaaa>aaa	p.MRSM750del		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	750							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.M750_M753delMRSM(1)|p.R751W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAAATCTGTTTCATGGACCGCATATATGGGCT	0.453																																					p.750_754del	Melanoma(191;1090 2095 4375 23729 47341)											.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(2)	c.2249_2260del	2						.																																			38923827	SO:0001651	inframe_deletion	90957	exon12			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2249_2260delTGCGGTCCATGA	2.37:g.39070312_39070323delTCATGGACCGCA	ENSP00000295373:p.Met750_Met753del	Somatic		Capture	SOLID	Phase_I	38923816	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	CCDS1800.1																																																																																				0.453	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
MKX	283078	hgsc.bcm.edu	37	10	28024272	28024272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr10:28024272C>T	ENST00000375790.5	-	4	812	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	MKX_ENST00000419761.1_Missense_Mutation_p.R127Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	127					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R127Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATTCTTAAGCCGACGTCTTGC	0.358																																					p.R127Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	10						.						112.0	111.0	111.0					10																	28024272		2203	4300	6503	28064278	SO:0001583	missense	283078	exon4			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.380G>A	10.37:g.28024272C>T	ENSP00000364946:p.Arg127Gln	Somatic		Capture	SOLID	Phase_I	28064278	NM_173576	B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547873	0.96488	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	D;D	0.98602	-5.02;-5.02	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97994	1.0356	10	0.87932	D	0	-25.9976	20.3151	0.98650	0.0:1.0:0.0:0.0	.	127	Q8IYA7	MKX_HUMAN	Q	127	ENSP00000364946:R127Q;ENSP00000400896:R127Q	ENSP00000364946:R127Q	R	-	2	0	MKX	28064278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.809000	0.96659	0.467000	0.42956	CGG		0.358	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576	
APC	324	hgsc.bcm.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	APC_ENST00000508376.2_Nonsense_Mutation_p.R876*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R876*			P25054	APC_HUMAN	adenomatous polyposis coli	876	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R876*(38)|p.S874_R876>*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTTCAAAGCGAGGTTTGCA	0.463		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R858X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0	.	40	Substitution - Nonsense(38)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(37)|lung(1)|breast(1)|skin(1)	c.C2572T	5	GRCh37	CM942020	APC	M	rs121913333	.						70.0	72.0	71.0					5																	112173917		2202	4300	6502	112201816	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2626C>T	5.37:g.112173917C>T	ENSP00000413133:p.Arg876*	Somatic		Capture	SOLID	Phase_I	112201816	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588996	0.97688	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2738	14.8639	0.70401	0.3912:0.6088:0.0:0.0	.	.	.	.	X	876;858;876;876;876	.	ENSP00000257430:R876X	R	+	1	2	APC	112201816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.385000	0.34408	0.785000	0.33685	0.557000	0.71058	CGA		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PHAX	51808	hgsc.bcm.edu	37	5	125936672	125936672	+	Silent	SNP	C	C	T	rs75136984	byFrequency	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr5:125936672C>T	ENST00000297540.4	+	1	713	c.18C>T	c.(16-18)ggC>ggT	p.G6G	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	6	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.G6G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TGGAGGTCGGCGATATGGAAG	0.672													C|||	35	0.00698882	0.0038	0.0173	5008	,	,		12923	0.0		0.0179	False		,,,				2504	0.0				p.G6G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18T	5						.	C		21,4385	27.2+/-55.0	0,21,2182	49.0	40.0	43.0		18	-9.3	0.0	5	dbSNP_131	43	184,8416	80.4+/-143.0	2,180,4118	no	coding-synonymous	PHAX	NM_032177.3		2,201,6300	TT,TC,CC		2.1395,0.4766,1.5762		6/395	125936672	205,12801	2203	4300	6503	125964571	SO:0001819	synonymous_variant	51808	exon1			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.18C>T	5.37:g.125936672C>T		Somatic		Capture	SOLID	Phase_I	125964571	NM_032177	Q9H8W1	Silent	SNP	ENST00000297540.4	37	CCDS4138.1																																																																																				0.672	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177	
ACOT12	134526	hgsc.bcm.edu	37	5	80643667	80643667	+	Silent	SNP	A	A	G			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr5:80643667A>G	ENST00000307624.3	-	6	607	c.579T>C	c.(577-579)caT>caC	p.H193H		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	193	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.H193H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GATGGTTTGCATGGGGTGGGA	0.483																																					p.H193H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T579C	5						.						273.0	260.0	265.0					5																	80643667		2203	4300	6503	80679423	SO:0001819	synonymous_variant	134526	exon6			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.579T>C	5.37:g.80643667A>G		Somatic		Capture	SOLID	Phase_I	80679423	NM_130767	B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	CCDS4055.1																																																																																				0.483	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
FAT2	2196	hgsc.bcm.edu	37	5	150948445	150948445	+	Silent	SNP	C	C	T			TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00W-01A-01W-A005-10	TCGA-AA-A00W-10A-01W-A005-10	g.chr5:150948445C>T	ENST00000261800.5	-	1	60	c.48G>A	c.(46-48)gcG>gcA	p.A16A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	16					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A16A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCACAGGTCGCACAATGGA	0.473																																					p.A16A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G48A	5						.						83.0	85.0	84.0					5																	150948445		2203	4300	6503	150928638	SO:0001819	synonymous_variant	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.48G>A	5.37:g.150948445C>T		Somatic		Capture	SOLID	Phase_I	150928638	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
