#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AIFM1	9131	hgsc.bcm.edu	37	X	129270128	129270129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chrX:129270128_129270129insC	ENST00000287295.3	-	12	1426_1427	c.1196_1197insG	c.(1195-1197)ggcfs	p.G399fs	AIFM1_ENST00000440263.1_Frame_Shift_Ins_p.G47fs|AIFM1_ENST00000460436.2_Frame_Shift_Ins_p.G60fs|AIFM1_ENST00000346424.2_Frame_Shift_Ins_p.G112fs|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Frame_Shift_Ins_p.G395fs	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	399	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TGGGCTCCAGGCCCACAGCTGC	0.47																																																	0																																										SO:0001589	frameshift_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1197dupG	X.37:g.129270131_129270131dupC	ENSP00000287295:p.Gly399fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Frame_Shift_Ins	INS	ENST00000287295.3	37	CCDS14618.1																																																																																				0.470	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			
ARHGAP5	394	hgsc.bcm.edu;ucsc.edu	37	14	32562855	32562855	+	Missense_Mutation	SNP	A	A	T	rs141239257		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr14:32562855A>T	ENST00000345122.3	+	2	3295	c.2980A>T	c.(2980-2982)Att>Ttt	p.I994F	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I994F|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I994F|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I994F	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	994					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTATAGTCCAATTGGGGATGA	0.408																																					NSCLC(9;77 350 3443 29227 41353)												0													120.0	115.0	117.0					14																	32562855		2203	4300	6503	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2980A>T	14.37:g.32562855A>T	ENSP00000371897:p.Ile994Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	3.069	-0.191628	0.06299	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.27053	0.805	0.80722	D	1	B;B	0.16396	0.017;0.01	B;B	0.23716	0.048;0.021	T	0.25467	-1.0131	10	0.16896	T	0.51	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	994;994	Q13017-2;Q13017	.;RHG05_HUMAN	F	994	ENSP00000452222:I994F;ENSP00000441692:I994F;ENSP00000371897:I994F;ENSP00000393307:I994F	ENSP00000371897:I994F	I	+	1	0	ARHGAP5	31632606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.288000	0.76882	0.533000	0.62120	ATT		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055	
CHRNB4	1143	hgsc.bcm.edu;ucsc.edu	37	15	78922278	78922278	+	Silent	SNP	C	C	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr15:78922278C>T	ENST00000261751.3	-	5	480	c.369G>A	c.(367-369)ggG>ggA	p.G123G	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	123					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CCTCATAGGTCCCGTCGGCGC	0.562																																																	0													35.0	38.0	37.0					15																	78922278		2195	4289	6484	SO:0001819	synonymous_variant	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.369G>A	15.37:g.78922278C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																				0.562	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			
DSG2	1829	hgsc.bcm.edu;ucsc.edu	37	18	29101062	29101062	+	Splice_Site	SNP	C	C	G			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr18:29101062C>G	ENST00000261590.8	+	5	588	c.379C>G	c.(379-381)Cta>Gta	p.L127V	DSG2_ENST00000585206.1_Splice_Site_p.L127V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	127	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGATTTCAGCTAACAGGTTA	0.323																																																	0													72.0	67.0	69.0					18																	29101062		1831	4085	5916	SO:0001630	splice_region_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.379-1C>G	18.37:g.29101062C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151470	0.06585	.	.	ENSG00000046604	ENST00000261590	T	0.72167	-0.63	5.72	2.87	0.33458	Cadherin (3);Cadherin-like (1);	0.281721	0.18351	N	0.143863	T	0.64349	0.2590	M	0.76574	2.34	0.42717	D	0.993666	B	0.12630	0.006	B	0.16289	0.015	T	0.55398	-0.8147	9	.	.	.	.	4.4518	0.11624	0.1175:0.5261:0.2275:0.1288	.	127	Q14126	DSG2_HUMAN	V	127	ENSP00000261590:L127V	.	L	+	1	2	DSG2	27355060	0.997000	0.39634	0.870000	0.34147	0.082000	0.17680	0.432000	0.21461	0.303000	0.22785	-0.291000	0.09656	CTA		0.323	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943	Missense_Mutation
MIA3	375056	hgsc.bcm.edu;ucsc.edu	37	1	222802075	222802075	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr1:222802075A>T	ENST00000344922.5	+	4	1538	c.1513A>T	c.(1513-1515)Aac>Tac	p.N505Y	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.N505Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	505					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAATAACCTCAACTCTATGCC	0.403																																																	0													150.0	146.0	147.0					1																	222802075		1927	4122	6049	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1513A>T	1.37:g.222802075A>T	ENSP00000340900:p.Asn505Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.918910|1.918910	0.33908|0.33908	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.41400|.	1.0;1.0|.	4.24|4.24	0.186|0.186	0.15105|0.15105	.|.	.|.	.|.	.|.	.|.	T|T	0.30696|0.30696	0.0773|0.0773	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;P|.	0.48162|.	0.556;0.906|.	B;P|.	0.44732|.	0.195;0.459|.	T|T	0.25606|0.25606	-1.0127|-1.0127	9|5	0.56958|.	D|.	0.05|.	.|.	4.7722|4.7722	0.13162|0.13162	0.4365:0.2897:0.2737:0.0|0.4365:0.2897:0.2737:0.0	.|.	505;505|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	Y|L	505|87	ENSP00000340900:N505Y;ENSP00000340587:N505Y|.	ENSP00000325973:N505Y|.	N|Q	+|+	1|2	0|0	MIA3|MIA3	220868698|220868698	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	0.533000|0.533000	0.23082|0.23082	-0.178000|-0.178000	0.10672|0.10672	0.254000|0.254000	0.18369|0.18369	AAC|CAA		0.403	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551	
OR4M1	441670	hgsc.bcm.edu	37	14	20249071	20249071	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr14:20249071T>C	ENST00000315957.4	+	1	671	c.590T>C	c.(589-591)tTa>tCa	p.L197S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAGGAGTTAGTGATGATC	0.478																																																	0													390.0	329.0	350.0					14																	20249071		2203	4298	6501	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.590T>C	14.37:g.20249071T>C	ENSP00000319654:p.Leu197Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	12.45	1.942909	0.34283	.	.	ENSG00000176299	ENST00000315957	T	0.00216	8.53	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.193663	0.25250	N	0.032034	T	0.00271	0.0008	M	0.82433	2.59	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.32508	-0.9904	10	0.49607	T	0.09	-4.3162	11.9469	0.52934	0.0:0.0:0.0:1.0	.	197	Q8NGD0	OR4M1_HUMAN	S	197	ENSP00000319654:L197S	ENSP00000319654:L197S	L	+	2	0	OR4M1	19318911	0.008000	0.16893	0.974000	0.42286	0.987000	0.75469	1.832000	0.39151	1.995000	0.58328	0.414000	0.27820	TTA		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			
PLEKHG3	26030	hgsc.bcm.edu;ucsc.edu	37	14	65207861	65207861	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr14:65207861G>T	ENST00000394691.1	+	16	1773	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E47D|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.E486D|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E75D			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	542							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AAGTCCTGGAGACACAGCTTG	0.597																																																	0													96.0	99.0	98.0					14																	65207861		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1626G>T	14.37:g.65207861G>T	ENSP00000378183:p.Glu542Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	7.460	0.644432	0.14451	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.29	-6.56	0.01848	.	0.381500	0.24899	N	0.034715	T	0.20333	0.0489	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.13145	0.006;0.006;0.004;0.007	B;B;B;B	0.14578	0.009;0.005;0.005;0.011	T	0.06162	-1.0842	10	0.35671	T	0.21	.	5.3419	0.15988	0.2291:0.1174:0.5377:0.1158	.	75;47;542;486	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	D	486;542;75;47	ENSP00000247226:E486D;ENSP00000378183:E542D;ENSP00000450945:E75D;ENSP00000450973:E47D	ENSP00000247226:E486D	E	+	3	2	PLEKHG3	64277614	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.552000	0.06020	-1.321000	0.02281	0.650000	0.86243	GAG		0.597	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549	
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89711910	89711910	+	Nonsense_Mutation	SNP	T	T	G	rs587780711		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr10:89711910T>G	ENST00000371953.3	+	6	1885	c.528T>G	c.(526-528)taT>taG	p.Y176*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	176	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y176del(2)|p.G165_*404del(1)|p.Y176*(1)|p.V175fs*3(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTATGTGTATTATTATAGCT	0.363		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	60	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Deletion - In frame(3)|Complex - frameshift(3)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(15)|skin(9)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|kidney(1)	GRCh37	CM020756|CM033668	PTEN	M							138.0	140.0	139.0					10																	89711910		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.528T>G	10.37:g.89711910T>G	ENSP00000361021:p.Tyr176*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	49	16.016428	0.99852	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	0.174274	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1166	10.6944	0.45890	0.0:0.0799:0.0:0.9201	.	.	.	.	X	176	.	.	Y	+	3	2	PTEN	89701890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.975000	0.49281	2.198000	0.70561	0.482000	0.46254	TAT		0.363	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
RHOT2	89941	hgsc.bcm.edu;ucsc.edu	37	16	720318	720318	+	Silent	SNP	C	C	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr16:720318C>T	ENST00000315082.4	+	7	513	c.399C>T	c.(397-399)ccC>ccT	p.P133P	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	133	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCGTGCTCCCCATCATGAGCC	0.622																																																	0													81.0	84.0	83.0					16																	720318		2200	4299	6499	SO:0001819	synonymous_variant	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.399C>T	16.37:g.720318C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																				0.622	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1		NM_138769	
SLCO4C1	353189	hgsc.bcm.edu;ucsc.edu	37	5	101575087	101575087	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr5:101575087T>C	ENST00000310954.6	-	12	2168	c.1882A>G	c.(1882-1884)Att>Gtt	p.I628V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGTCCAGGAATTGTCCCTAAA	0.284																																																	0													55.0	56.0	55.0					5																	101575087		2203	4299	6502	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1882A>G	5.37:g.101575087T>C	ENSP00000309741:p.Ile628Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136229	0.56936	.	.	ENSG00000173930	ENST00000310954	T	0.54279	0.58	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.61451	0.2348	L	0.60957	1.885	0.80722	D	1	P	0.35894	0.526	P	0.47786	0.557	T	0.61098	-0.7131	10	0.42905	T	0.14	.	14.7703	0.69671	0.0:0.0:0.0:1.0	.	628	Q6ZQN7	SO4C1_HUMAN	V	628	ENSP00000309741:I628V	ENSP00000309741:I628V	I	-	1	0	SLCO4C1	101602986	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	3.806000	0.55583	2.133000	0.65898	0.528000	0.53228	ATT		0.284	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991	
SRRT	51593	hgsc.bcm.edu;ucsc.edu	37	7	100479850	100479850	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr7:100479850A>C	ENST00000347433.4	+	5	733	c.575A>C	c.(574-576)aAa>aCa	p.K192T	SRRT_ENST00000388793.4_Missense_Mutation_p.K192T|SRRT_ENST00000432932.1_Missense_Mutation_p.K192T|SRRT_ENST00000457580.2_Missense_Mutation_p.K192T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	192					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGCGCACAAAGATGAGGAG	0.587																																																	0													99.0	84.0	89.0					7																	100479850		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.575A>C	7.37:g.100479850A>C	ENSP00000314491:p.Lys192Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437764	0.62955	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.991;0.991;0.991;0.995	T	0.82918	-0.0219	9	0.87932	D	0	.	11.9305	0.52843	1.0:0.0:0.0:0.0	.	192;192;192;192	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	192;192;107;192;192	.	ENSP00000314491:K192T	K	+	2	0	SRRT	100317786	1.000000	0.71417	0.986000	0.45419	0.932000	0.56968	8.830000	0.92063	1.902000	0.55061	0.460000	0.39030	AAA		0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908	
STARD13	90627	hgsc.bcm.edu;ucsc.edu	37	13	33716508	33716508	+	Missense_Mutation	SNP	C	C	A	rs368835264		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr13:33716508C>A	ENST00000336934.5	-	4	442	c.326G>T	c.(325-327)cGa>cTa	p.R109L	STARD13_ENST00000255486.4_Missense_Mutation_p.R101L|STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	109	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGTATTTAGTCGTCTAAAAGG	0.358																																																	0								C	,LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	122.0	127.0		,326,302	5.3	1.0	13		127	0,8600		0,0,4300	no	utr-5,missense,missense	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	,102,102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,probably-damaging,probably-damaging	,109/1114,101/1106	33716508	1,13005	2203	4300	6503	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.326G>T	13.37:g.33716508C>A	ENSP00000338785:p.Arg109Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648265	0.87958	2.27E-4	0.0	ENSG00000133121	ENST00000255486;ENST00000336934;ENST00000399364	D;D	0.90900	-2.75;-2.75	5.27	5.27	0.74061	Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.96200	0.8761	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.995;0.992	D	0.96686	0.9507	10	0.87932	D	0	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	101;74;109;101	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	101;109;101	ENSP00000255486:R101L;ENSP00000338785:R109L	ENSP00000255486:R101L	R	-	2	0	STARD13	32614508	1.000000	0.71417	0.989000	0.46669	0.849000	0.48306	6.174000	0.71943	2.626000	0.88956	0.650000	0.86243	CGA		0.358	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2		NM_001243466	
ZFHX4	79776	hgsc.bcm.edu;ucsc.edu	37	8	77762484	77762484	+	Missense_Mutation	SNP	C	C	G	rs574818617		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr8:77762484C>G	ENST00000521891.2	+	9	4298	c.3850C>G	c.(3850-3852)Cct>Gct	p.P1284A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1239A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1239A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1258A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAAAGGTGCCTGTCCCTGA	0.483										HNSCC(33;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17149	0.0		0.0	False		,,,				2504	0.001																0													37.0	39.0	38.0					8																	77762484		1933	4146	6079	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3850C>G	8.37:g.77762484C>G	ENSP00000430497:p.Pro1284Ala	Somatic		WXS	Illumina HiSeq	Phase_I	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705782	0.48412	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.94;0.91;0.9	5.07	5.07	0.68467	.	0.000000	0.41938	U	0.000790	T	0.25382	0.0617	N	0.17474	0.49	0.36258	D	0.854344	B;B;B	0.25272	0.075;0.122;0.122	B;B;B	0.28305	0.04;0.088;0.088	T	0.16512	-1.0400	10	0.08599	T	0.76	.	12.0232	0.53354	0.0:0.9213:0.0:0.0787	.	1239;1239;1284	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	A	1284;1284;1239;1239;1258	ENSP00000430497:P1284A;ENSP00000399605:P1239A;ENSP00000050961:P1239A;ENSP00000430848:P1258A	ENSP00000050961:P1239A	P	+	1	0	ZFHX4	77925039	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.200000	0.32247	2.640000	0.89533	0.561000	0.74099	CCT		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
