#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
DLGAP2	9228	genome.wustl.edu	37	8	1649524	1649524	+	Silent	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:1649524C>T	ENST00000421627.2	+	12	3014	c.2880C>T	c.(2878-2880)cgC>cgT	p.R960R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1039					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTCCGAGCGCGCGGACAGCA	0.692																																																0			8											12.0	16.0	14.0					8																	1649524		2187	4292	6479	1636931	SO:0001819	synonymous_variant	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2880C>T	8.37:g.1649524C>T			1636931	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	HMMPfam_GKAP	p.R960	ENST00000421627.2	37	c.2880	CCDS47760.1	8	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111640	0.20714	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48293	-0.9048	4	.	.	.	-15.531	4.2597	0.10735	0.2701:0.0853:0.4505:0.1941	.	.	.	.	V	963	.	.	A	+	2	0	DLGAP2	1636931	0.001000	0.12720	0.201000	0.23476	0.825000	0.46686	-1.497000	0.02289	-2.913000	0.00307	-0.500000	0.04577	GCG	-	HMMPfam_GKAP		0.692	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	protein_coding	OTTHUMT00000374478.1	C	NM_004745		1636931	+1	no_errors	NM_004745	genbank	human	reviewed	54_36p	silent	SNP	0.499	T
ZNF594	84622	genome.wustl.edu	37	17	5086195	5086195	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:5086195C>T	ENST00000399604.4	-	1	1497	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	ZNF594_ENST00000575779.1_Missense_Mutation_p.V453I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCAGTATGAACACGATGGTGT	0.418																																																0			17											93.0	100.0	98.0					17																	5086195		2194	4297	6491	5026919	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1357G>A	17.37:g.5086195C>T	ENSP00000382513:p.Val453Ile		5026919	Q6RFS0	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.V453I	ENST00000399604.4	37	c.1357	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.139760	0.00335	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.01015	5.44	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00412	0.0013	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	9	0.02654	T	1	.	6.7018	0.23229	0.0:0.3255:0.0:0.6745	.	453	Q96JF6	ZN594_HUMAN	I	453;48	ENSP00000382513:V453I	ENSP00000373874:V48I	V	-	1	0	ZNF594	5026919	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.334000	0.07883	-1.446000	0.01945	-1.797000	0.00622	GTT	-	superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5026919	-1	no_errors	NM_032530	genbank	human	validated	54_36p	missense	SNP	0.052	T
DNM2	1785	genome.wustl.edu	37	19	10935805	10935805	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr19:10935805A>G	ENST00000355667.6	+	18	2046	c.1966A>G	c.(1966-1968)Att>Gtt	p.I656V	DNM2_ENST00000314646.5_Missense_Mutation_p.I656V|DNM2_ENST00000408974.4_Missense_Mutation_p.I652V|DNM2_ENST00000389253.4_Missense_Mutation_p.I656V|DNM2_ENST00000585892.1_Missense_Mutation_p.I656V|DNM2_ENST00000359692.6_Missense_Mutation_p.I652V	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	656	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGTGGAGACCATTCGCAACCT	0.577			"""F, N, Splice, Mis, O"""		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0			19											120.0	97.0	105.0					19																	10935805		2203	4300	6503	10796805	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1966A>G	19.37:g.10935805A>G	ENSP00000347890:p.Ile656Val		10796805	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302	p.I656V	ENST00000355667.6	37	c.1966	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237818	0.58886	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.59772	0.24;0.24;0.24	5.27	5.27	0.74061	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.77486	2.375	0.80722	D	1	B;B;D;B;P;P;B	0.55172	0.329;0.258;0.97;0.148;0.675;0.471;0.15	B;B;P;B;B;B;B	0.51266	0.326;0.247;0.664;0.437;0.163;0.361;0.107	T	0.74423	-0.3670	10	0.87932	D	0	-0.2184	14.1725	0.65519	1.0:0.0:0.0:0.0	.	250;656;385;652;652;656;656	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	V	652;652;656;656;656;263	ENSP00000386192:I652V;ENSP00000373905:I656V;ENSP00000313164:I656V	ENSP00000313164:I656V	I	+	1	0	DNM2	10796805	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.248000	0.95456	1.996000	0.58369	0.460000	0.39030	ATT	-	HMMPfam_GED,HMMSmart_SM00302		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	protein_coding	OTTHUMT00000452592.1	A	NM_004945		10796805	+1	no_errors	NM_001005360	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PDIA6	10130	genome.wustl.edu	37	2	10925098	10925098	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr2:10925098T>C	ENST00000272227.3	-	12	1363	c.1216A>G	c.(1216-1218)Atc>Gtc	p.I406V	ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000404824.2_Missense_Mutation_p.I454V|PDIA6_ENST00000540494.1_Missense_Mutation_p.I403V|PDIA6_ENST00000381611.4_Missense_Mutation_p.I411V|PDIA6_ENST00000404371.2_Missense_Mutation_p.I458V	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	406					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTCTCAACGATGGTAGGGAAA	0.577																																					GBM(73;509 1219 34219 41343 41551)											0			2											36.0	31.0	33.0					2																	10925098		2202	4296	6498	10842549	SO:0001583	missense	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1216A>G	2.37:g.10925098T>C	ENSP00000272227:p.Ile406Val		10842549	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1	p.I406V	ENST00000272227.3	37	c.1216	CCDS1675.1	2	.	.	.	.	.	.	.	.	.	.	T	9.826	1.187004	0.21870	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.05081	3.61;3.5;3.57;3.55;3.6	5.72	5.72	0.89469	.	0.043557	0.85682	D	0.000000	T	0.10766	0.0263	L	0.58583	1.82	0.80722	D	1	B;B;B;B	0.29270	0.033;0.24;0.15;0.022	B;B;B;B	0.34093	0.05;0.175;0.124;0.012	T	0.07539	-1.0767	10	0.33940	T	0.23	.	15.4793	0.75511	0.0:0.0:0.0:1.0	.	403;454;458;406	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	V	406;458;454;403;411	ENSP00000272227:I406V;ENSP00000385385:I458V;ENSP00000384459:I454V;ENSP00000438778:I403V;ENSP00000371024:I411V	ENSP00000272227:I406V	I	-	1	0	PDIA6	10842549	1.000000	0.71417	0.155000	0.22561	0.025000	0.11179	4.635000	0.61332	2.311000	0.77944	0.533000	0.62120	ATC	-	NULL		0.577	PDIA6-001	KNOWN	basic|CCDS	protein_coding	PDIA6	protein_coding	OTTHUMT00000206933.1	T	NM_005742		10842549	-1	no_errors	NM_005742	genbank	human	validated	54_36p	missense	SNP	0.907	C
MAK	4117	genome.wustl.edu	37	6	10764812	10764812	+	Missense_Mutation	SNP	C	C	T	rs368535018		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr6:10764812C>T	ENST00000313243.2	-	14	2127	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.R582Q|MAK_ENST00000354489.2_Missense_Mutation_p.R582Q			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AAACTGCCCCCGACCAGTTTT	0.403																																																0			6						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	94.0	93.0		1625,1745	0.8	1.0	6		93	0,8600		0,0,4300	no	missense,missense	MAK	NM_001242385.1,NM_005906.4	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	542/584,582/624	10764812	1,13005	2203	4300	6503	10872798	SO:0001583	missense	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1745G>A	6.37:g.10764812C>T	ENSP00000313021:p.Arg582Gln		10872798	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.R582Q	ENST00000313243.2	37	c.1745	CCDS4516.1	6	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002728	0.54254	2.27E-4	0.0	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.73363	-0.74;-0.74	5.66	0.822	0.18806	.	0.265585	0.36932	N	0.002337	T	0.56601	0.1996	M	0.77103	2.36	0.80722	D	1	B	0.34015	0.435	B	0.28784	0.094	T	0.56890	-0.7904	10	0.56958	D	0.05	.	10.5029	0.44817	0.0:0.6763:0.0:0.3237	.	582	P20794	MAK_HUMAN	Q	582	ENSP00000313021:R582Q;ENSP00000346484:R582Q	ENSP00000313021:R582Q	R	-	2	0	MAK	10872798	0.997000	0.39634	0.957000	0.39632	0.993000	0.82548	0.514000	0.22786	-0.149000	0.11215	-0.150000	0.13652	CGG	-	NULL		0.403	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	protein_coding	OTTHUMT00000039841.1	C	NM_005906		10872798	-1	no_errors	NM_005906	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
GRIN2B	2904	genome.wustl.edu	37	12	13768457	13768457	+	Silent	SNP	G	G	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr12:13768457G>T	ENST00000609686.1	-	6	1679	c.1470C>A	c.(1468-1470)atC>atA	p.I490I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	490					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGTTCCATTGATTTTCTTCC	0.373																																																0			12											154.0	162.0	159.0					12																	13768457		2203	4300	6503	13659724	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1470C>A	12.37:g.13768457G>T			13659724	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C	p.I490	ENST00000609686.1	37	c.1470	CCDS8662.1	12																																																																																			-	superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd		0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	protein_coding	OTTHUMT00000268014.2	G			13659724	-1	no_errors	NM_000834	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
PADI2	11240	genome.wustl.edu	37	1	17410239	17410239	+	Silent	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:17410239T>A	ENST00000375486.4	-	9	1095	c.1032A>T	c.(1030-1032)cgA>cgT	p.R344R	PADI2_ENST00000444885.2_Silent_p.R228R|PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000375481.1_Silent_p.R344R	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	344					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGCGATCGCCTCGGTTTAGGT	0.527																																																0			1											120.0	115.0	117.0					1																	17410239		2203	4300	6503	17282826	SO:0001819	synonymous_variant	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1032A>T	1.37:g.17410239T>A			17282826	Q96DA7|Q9UPN2	Silent	SNP	HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909	p.R344	ENST00000375486.4	37	c.1032	CCDS177.1	1																																																																																			-	HMMPfam_PAD,superfamily_SSF55909		0.527	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	T			17282826	-1	no_errors	NM_007365	genbank	human	reviewed	54_36p	silent	SNP	0.968	A
SHMT1	6470	genome.wustl.edu	37	17	18233878	18233878	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:18233878T>A	ENST00000316694.3	-	10	1296	c.1162A>T	c.(1162-1164)Acc>Tcc	p.T388S	SHMT1_ENST00000354098.3_Missense_Mutation_p.T349S|SHMT1_ENST00000539052.1_Missense_Mutation_p.T250S|SHMT1_ENST00000352886.6_Missense_Mutation_p.T308S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	388					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCTGGACAGGTGTTCTTGTTG	0.493																																																0			17											139.0	118.0	125.0					17																	18233878		2203	4300	6503	18174603	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1162A>T	17.37:g.18233878T>A	ENSP00000318868:p.Thr388Ser		18174603	B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	superfamily_PLP-dependent transferases,HMMPfam_SHMT,PatternScan_SHMT	p.T388S	ENST00000316694.3	37	c.1162	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415100	0.83449	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.43294	0.95;1.51;0.95;1.51	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.52011	1.625	0.80722	D	1	D;P;P	0.61697	0.99;0.856;0.545	D;B;P	0.63283	0.913;0.437;0.575	T	0.50457	-0.8826	10	0.30854	T	0.27	-41.1801	15.9269	0.79624	0.0:0.0:0.0:1.0	.	388;349;388	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	S	388;163;308;250;349;388	ENSP00000318868:T388S;ENSP00000345881:T308S;ENSP00000440089:T250S;ENSP00000318805:T349S	ENSP00000318868:T388S	T	-	1	0	SHMT1	18174603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.969000	0.87988	2.228000	0.72767	0.533000	0.62120	ACC	-	superfamily_PLP-dependent transferases,HMMPfam_SHMT		0.493	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	protein_coding	OTTHUMT00000130831.2	T	NM_004169		18174603	-1	no_errors	NM_004169	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HAUS4	54930	genome.wustl.edu	37	14	23420854	23420854	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr14:23420854C>T	ENST00000206474.7	-	5	627	c.375G>A	c.(373-375)atG>atA	p.M125I	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Start_Codon_SNP_p.M1I|HAUS4_ENST00000555986.1_Intron|HAUS4_ENST00000342454.8_Intron|HAUS4_ENST00000555367.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.M125I|HAUS4_ENST00000347758.2_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	125					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTAAGAGCCGCATCAGTTCAG	0.512																																																0			14											56.0	57.0	56.0					14																	23420854		2203	4300	6503	22490694	SO:0001583	missense	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.375G>A	14.37:g.23420854C>T	ENSP00000206474:p.Met125Ile		22490694	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.M125I	ENST00000206474.7	37	c.375	CCDS9580.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.401|7.401	0.632800|0.632800	0.14322|0.14322	.|.	.|.	ENSG00000092036|ENSG00000092036	ENST00000553420|ENST00000206474;ENST00000490506;ENST00000541587;ENST00000555040;ENST00000554516;ENST00000557591;ENST00000554406	.|.	.|.	.|.	5.61|5.61	-11.2|-11.2	0.00127|0.00127	.|.	.|0.440276	.|0.26496	.|N	.|0.024042	T|T	0.10294|0.10294	0.0252|0.0252	N|N	0.08118|0.08118	0|0	0.25859|0.25859	N|N	0.983845|0.983845	.|B	.|0.09022	.|0.002	.|B	.|0.11329	.|0.006	T|T	0.04191|0.04191	-1.0970|-1.0970	5|9	.|0.29301	.|T	.|0.29	-1.4571|-1.4571	3.9345|3.9345	0.09299|0.09299	0.1482:0.248:0.4142:0.1895|0.1482:0.248:0.4142:0.1895	.|.	.|125	.|Q9H6D7	.|HAUS4_HUMAN	Y|I	107|125;1;125;125;125;125;1	.|.	.|ENSP00000206474:M125I	C|M	-|-	2|3	0|0	HAUS4|HAUS4	22490694|22490694	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.773000|0.773000	0.43773|0.43773	-3.033000|-3.033000	0.00636|0.00636	-2.856000|-2.856000	0.00329|0.00329	-1.263000|-1.263000	0.01449|0.01449	TGC|ATG	-	NULL		0.512	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf94	protein_coding	OTTHUMT00000071680.3	C			22490694	-1	no_errors	NM_017815	genbank	human	predicted	54_36p	missense	SNP	0.001	T
MTMR6	9107	genome.wustl.edu	37	13	25823461	25823461	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr13:25823461T>A	ENST00000381801.5	-	14	2536	c.1775A>T	c.(1774-1776)gAt>gTt	p.D592V	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	592					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ATAACGATTATCTGCCGGGCT	0.433																																																0			13											113.0	111.0	111.0					13																	25823461		2203	4300	6503	24721461	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1775A>T	13.37:g.25823461T>A	ENSP00000371221:p.Asp592Val		24721461	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.D592V	ENST00000381801.5	37	c.1775	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534568	0.85812	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	D	0.94897	-3.55	5.89	5.89	0.94794	.	0.200169	0.51477	D	0.000088	D	0.92417	0.7593	L	0.29908	0.895	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	D	0.93498	0.6842	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	592	Q9Y217	MTMR6_HUMAN	V	592;160	ENSP00000371221:D592V	ENSP00000317987:D160V	D	-	2	0	MTMR6	24721461	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	5.315000	0.65810	2.254000	0.74563	0.533000	0.62120	GAT	-	NULL		0.433	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	protein_coding	OTTHUMT00000044225.1	T	NM_004685		24721461	-1	no_errors	NM_004685	genbank	human	validated	54_36p	missense	SNP	1.000	A
MTMR6	9107	genome.wustl.edu	37	13	25823558	25823558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr13:25823558C>A	ENST00000381801.5	-	14	2439	c.1678G>T	c.(1678-1680)Gaa>Taa	p.E560*	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	560					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTAGGTGATTCAGGATGAACT	0.388																																																0			13											151.0	144.0	146.0					13																	25823558		2203	4300	6503	24721558	SO:0001587	stop_gained	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1678G>T	13.37:g.25823558C>A	ENSP00000371221:p.Glu560*		24721558	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Nonsense_Mutation	SNP	HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II	p.E560*	ENST00000381801.5	37	c.1678	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	C	42	9.767456	0.99259	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	.	.	.	5.78	5.78	0.91487	.	0.581631	0.19373	N	0.115847	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	560;128	.	ENSP00000317987:E128X	E	-	1	0	MTMR6	24721558	0.019000	0.18553	0.905000	0.35620	0.366000	0.29705	1.959000	0.40412	2.894000	0.99253	0.655000	0.94253	GAA	-	NULL		0.388	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	protein_coding	OTTHUMT00000044225.1	C	NM_004685		24721558	-1	no_errors	NM_004685	genbank	human	validated	54_36p	nonsense	SNP	0.273	A
RARB	5915	genome.wustl.edu	37	3	25622184	25622184	+	Silent	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:25622184C>T	ENST00000404969.1	+	5	778	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	RARB_ENST00000330688.4_Silent_p.L253L|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.L141L|RARB_ENST00000437042.2_Silent_p.L141L			P10826	RARB_HUMAN	retinoic acid receptor, beta	260	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAAATTACCCTGCTGAAGGC	0.547																																																0			3											113.0	103.0	106.0					3																	25622184		2203	4300	6503	25597188	SO:0001819	synonymous_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.778C>T	3.37:g.25622184C>T			25597188	P12891|Q00989|Q15298|Q9UN48	Silent	SNP	superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep	p.L253	ENST00000404969.1	37	c.757		3																																																																																			-	superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep		0.547	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		C	NM_000965, NM_016152		25597188	+1	no_errors	NM_000965	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
LSP1P3	729862	genome.wustl.edu	37	5	28927376	28927376	+	IGR	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:28927376C>G								CTD-2134P3.1 (118020 upstream) : SNORA18 (143226 downstream)																							AAAACAAGGTCGACAACTACT	0.448																																																0			5																																								28963133	SO:0001628	intergenic_variant	729862																															5.37:g.28927376C>G			28963133		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.448					LOC729862			C			28963133	+1	no_errors	XR_040872	genbank	human	model	54_36p	rna	SNP	0.948	G
TUBBP1	92755	genome.wustl.edu	37	8	30209758	30209758	+	RNA	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:30209758G>A	ENST00000518096.1	+	0	370									tubulin, beta pseudogene 1																		TGTTCGCTCAGGTCCTTTTGG	0.527																																																0			8																																								30329300			92755			J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209758G>A			30329300		RNA	SNP	-	NULL	ENST00000518096.1	37	NULL		8																																																																																			-	-		0.527	TUBBP1-002	KNOWN	basic	processed_transcript	LOC92755	pseudogene	OTTHUMT00000375880.1	G	NG_001206		30329300	+1	pseudogene	XR_016140	genbank	human	model	54_36p	rna	SNP	1.000	A
TEX15	56154	genome.wustl.edu	37	8	30702009	30702009	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:30702009T>G	ENST00000256246.2	-	1	4599	c.4525A>C	c.(4525-4527)Act>Cct	p.T1509P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1509					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATCAAGTTAGTTGTAATAATT	0.343																																																0			8											138.0	142.0	140.0					8																	30702009		2203	4299	6502	30821551	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4525A>C	8.37:g.30702009T>G	ENSP00000256246:p.Thr1509Pro		30821551		Missense_Mutation	SNP	NULL	p.T1509P	ENST00000256246.2	37	c.4525	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528700	0.27387	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	4.95	3.76	0.43208	.	0.530505	0.18598	N	0.136554	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	P	0.35982	0.531	B	0.35353	0.201	T	0.25433	-1.0132	10	0.87932	D	0	.	8.157	0.31176	0.0:0.0951:0.0:0.9049	.	1509	Q9BXT5	TEX15_HUMAN	P	1509	ENSP00000256246:T1509P	ENSP00000256246:T1509P	T	-	1	0	TEX15	30821551	0.017000	0.18338	0.011000	0.14972	0.036000	0.12997	0.343000	0.19944	0.950000	0.37743	0.455000	0.32223	ACT	-	NULL		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	T			30821551	-1	no_errors	NM_031271	genbank	human	validated	54_36p	missense	SNP	0.021	G
LY6G6C	80740	genome.wustl.edu	37	6	31691713	31691713	+	5'Flank	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr6:31691713T>C	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Missense_Mutation_p.L120P|C6orf25_ENST00000480039.1_Missense_Mutation_p.L120P|C6orf25_ENST00000375809.3_Missense_Mutation_p.L120P|C6orf25_ENST00000375805.2_Missense_Mutation_p.L120P|LY6G6C_ENST00000495859.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CGTACAGTGCTTCACGTGCTG	0.632																																																0			6											60.0	69.0	66.0					6																	31691713		2192	4287	6479	31799692	SO:0001631	upstream_gene_variant	80739				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691713T>C	Exception_encountered		31799692	Q5SRS8|Q8IY94	Missense_Mutation	SNP	NULL	p.L120P	ENST00000375819.2	37	c.359	CCDS4714.1	6	.	.	.	.	.	.	.	.	.	.	T	31	5.083079	0.94050	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.03	5.03	0.67393	Immunoglobulin subtype (1);	0.301060	0.24083	N	0.041705	T	0.50956	0.1646	L	0.34521	1.04	0.38004	D	0.934316	D;D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.80764	0.994;0.919;0.943;0.943;0.943;0.943	T	0.59306	-0.7479	10	0.87932	D	0	-7.0497	11.0724	0.48010	0.0:0.0:0.0:1.0	.	120;120;120;120;120;120	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	P	120	ENSP00000419306:L120P;ENSP00000364968:L120P;ENSP00000364963:L120P;ENSP00000364967:L120P;ENSP00000364962:L120P;ENSP00000364972:L120P;ENSP00000364964:L120P	ENSP00000364962:L120P	L	+	2	0	C6orf25	31799692	0.387000	0.25188	0.275000	0.24674	0.991000	0.79684	2.672000	0.46850	2.116000	0.64780	0.402000	0.26972	CTT	-	NULL		0.632	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf25	protein_coding	OTTHUMT00000076530.2	T			31799692	+1	no_errors	NM_138272	genbank	human	reviewed	54_36p	missense	SNP	0.987	C
ADAM2	2515	genome.wustl.edu	37	8	39606878	39606878	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:39606878A>G	ENST00000265708.4	-	18	2070	c.1967T>C	c.(1966-1968)aTt>aCt	p.I656T	ADAM2_ENST00000379853.2_Missense_Mutation_p.I500T|ADAM2_ENST00000521880.1_Missense_Mutation_p.I593T|ADAM2_ENST00000347580.4_Missense_Mutation_p.I637T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	656					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCCACTGTCAATACTCCCACC	0.348																																																0			8											92.0	90.0	91.0					8																	39606878		2203	4300	6503	39726035	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1967T>C	8.37:g.39606878A>G	ENSP00000265708:p.Ile656Thr		39726035	P78326|Q9UQQ8	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2"	p.I656T	ENST00000265708.4	37	c.1967	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983477	0.18889	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86	4.31	3.14	0.36123	.	.	.	.	.	D	0.90758	0.7099	L	0.31578	0.945	0.09310	N	0.999999	B;B;B;B	0.14805	0.001;0.003;0.011;0.006	B;B;B;B	0.20384	0.009;0.004;0.029;0.013	T	0.83178	-0.0090	9	0.52906	T	0.07	.	7.1279	0.25482	0.8928:0.0:0.1072:0.0	.	593;500;637;656	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	T	637;500;656;593	ENSP00000343854:I637T;ENSP00000369182:I500T;ENSP00000265708:I656T;ENSP00000429352:I593T	ENSP00000265708:I656T	I	-	2	0	ADAM2	39726035	0.049000	0.20398	0.166000	0.22797	0.838000	0.47535	1.248000	0.32827	0.758000	0.33059	-0.274000	0.10170	ATT	-	NULL		0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	protein_coding	OTTHUMT00000376926.1	A	NM_001464		39726035	-1	no_errors	NM_001464	genbank	human	reviewed	54_36p	missense	SNP	0.978	G
USP9X	8239	genome.wustl.edu	37	X	40988342	40988342	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:40988342T>A	ENST00000324545.8	+	3	819	c.186T>A	c.(184-186)gaT>gaA	p.D62E	USP9X_ENST00000378308.2_Missense_Mutation_p.D62E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	62					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGCTTGAAGATGAGGAACCTG	0.468																																					Ovarian(172;1807 2695 35459 49286)											0			X											105.0	96.0	99.0					X																	40988342		2203	4300	6503	40873286	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.186T>A	X.37:g.40988342T>A	ENSP00000316357:p.Asp62Glu		40873286	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.D62E	ENST00000324545.8	37	c.186	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513289	0.44660	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02682	4.2;4.21	5.41	2.96	0.34315	.	0.147351	0.64402	N	0.000013	T	0.01029	0.0034	N	0.01352	-0.895	0.46823	D	0.999211	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52003	-0.8633	10	0.10636	T	0.68	.	7.4989	0.27505	0.0:0.0752:0.1406:0.7842	.	62;62	Q93008-1;Q93008	.;USP9X_HUMAN	E	62	ENSP00000367558:D62E;ENSP00000316357:D62E	ENSP00000316357:D62E	D	+	3	2	USP9X	40873286	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.305000	0.43664	0.197000	0.20387	-0.314000	0.08810	GAT	-	NULL		0.468	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	T	NM_004652		40873286	+1	no_errors	NM_001039590	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RP11-156P1.2	0	genome.wustl.edu	37	17	45127486	45127486	+	IGR	SNP	C	C	T	rs200831860	byFrequency	TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:45127486C>T	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTAGGAGACCTGAGTCCTC	0.438																																																0			17																																								42482485	SO:0001628	intergenic_variant	0																															17.37:g.45127486C>T			42482485		Silent	SNP	NULL	p.D51	ENST00000571841.1	37	c.153		17																																																																																			-	NULL		0.438	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	ENSG00000187451	protein_coding	OTTHUMT00000440447.1	C			42482485	+1	no_errors	ENST00000309965	ensembl	human	known	54_36p	silent	SNP	0.000	T
ZDHHC3	51304	genome.wustl.edu	37	3	44968337	44968337	+	Silent	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:44968337T>A	ENST00000424952.2	-	7	1012	c.744A>T	c.(742-744)ggA>ggT	p.G248G	ZDHHC3_ENST00000296127.3_Silent_p.G276G|ZDHHC3_ENST00000342790.4_Silent_p.G282G	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	248					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ATTGTTCTATTCCCTGAAAAC	0.443																																																0			3											106.0	98.0	101.0					3																	44968337		2203	4300	6503	44943341	SO:0001819	synonymous_variant	51304			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.744A>T	3.37:g.44968337T>A			44943341	Q53A17|Q96BL0	Silent	SNP	HMMPfam_zf-DHHC	p.G276	ENST00000424952.2	37	c.828	CCDS46811.1	3																																																																																			-	NULL		0.443	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	protein_coding	OTTHUMT00000347004.1	T	NM_016598		44943341	-1	no_errors	NM_016598	genbank	human	validated	54_36p	silent	SNP	1.000	A
PHF21A	51317	genome.wustl.edu	37	11	45987013	45987013	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr11:45987013G>C	ENST00000418153.2	-	9	1045	c.846C>G	c.(844-846)caC>caG	p.H282Q	PHF21A_ENST00000257821.4_Missense_Mutation_p.H283Q|PHF21A_ENST00000527753.1_5'Flank|PHF21A_ENST00000323180.6_Missense_Mutation_p.H283Q			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	282					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CACGGACGGGGTGGATGGAAT	0.582											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											117.0	84.0	95.0					11																	45987013		2202	4299	6501	45943589	SO:0001583	missense	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.846C>G	11.37:g.45987013G>C	ENSP00000398824:p.His282Gln	935	45943589	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	HMMPfam_AT_hook,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.H282Q	ENST00000418153.2	37	c.846	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721437	0.68959	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.48522	0.81;0.81;0.81	6.17	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.50333	1.59	0.51767	D	0.999934	D;P;D	0.76494	0.999;0.48;0.984	D;B;D	0.79784	0.993;0.243;0.974	T	0.49254	-0.8959	10	0.13108	T	0.6	-8.4832	9.7869	0.40681	0.4093:0.0:0.5907:0.0	.	282;283;283	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	Q	283;283;282	ENSP00000257821:H283Q;ENSP00000323152:H283Q;ENSP00000398824:H282Q	ENSP00000257821:H283Q	H	-	3	2	PHF21A	45943589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.741000	0.38238	0.179000	0.19938	0.655000	0.94253	CAC	-	NULL		0.582	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	protein_coding	OTTHUMT00000392583.1	G	NM_016621		45943589	-1	no_errors	NM_001101802	genbank	human	validated	54_36p	missense	SNP	1.000	C
NPY4R	5540	genome.wustl.edu	37	10	47087575	47087575	+	Silent	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr10:47087575T>C	ENST00000395716.1	+	2	877	c.792T>C	c.(790-792)aaT>aaC	p.N264N	NPY4R_ENST00000374312.1_Silent_p.N264N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	264					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGCAGGTCAATGTGGTGCTGG	0.592																																																0			10											155.0	111.0	126.0					10																	47087575		2203	4300	6503	46507581	SO:0001819	synonymous_variant	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.792T>C	10.37:g.47087575T>C			46507581	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.N264	ENST00000395716.1	37	c.792	CCDS31193.1	10																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	protein_coding	OTTHUMT00000047837.1	T			46507581	+1	no_errors	NM_005972	genbank	human	validated	54_36p	silent	SNP	0.017	C
DMXL2	23312	genome.wustl.edu	37	15	51773448	51773448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:51773448C>T	ENST00000251076.5	-	24	6142	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W1952*|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W1316*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1952						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACATTTGACCATTCAATGCC	0.418																																																0			15											227.0	217.0	220.0					15																	51773448		2196	4293	6489	49560740	SO:0001587	stop_gained	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5855G>A	15.37:g.51773448C>T	ENSP00000251076:p.Trp1952*		49560740	B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.W1952*	ENST00000251076.5	37	c.5855	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	41	8.716838	0.98927	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.12	4.17	0.49024	.	0.119926	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	15.2852	0.73822	0.0:0.8484:0.1516:0.0	.	.	.	.	X	1952;1952;1316	.	ENSP00000251076:W1952X	W	-	2	0	DMXL2	49560740	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	3.344000	0.52174	2.665000	0.90641	0.650000	0.86243	TGG	-	NULL		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	C	NM_015263		49560740	-1	no_errors	NM_015263	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
PPP1R13L	10848	genome.wustl.edu	37	19	45899641	45899641	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr19:45899641C>A	ENST00000418234.2	-	5	844	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D256Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	256	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACGCCACGTCCAGGTCAGAC	0.652																																					Pancreas(61;1447 1663 31419 50578)											0			19											69.0	72.0	71.0					19																	45899641		2203	4300	6503	50591481	SO:0001583	missense	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.766G>T	19.37:g.45899641C>A	ENSP00000403902:p.Asp256Tyr		50591481	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.D256Y	ENST00000418234.2	37	c.766	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442271	0.43326	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.79352	-1.26;-1.26	4.84	3.8	0.43715	.	0.190205	0.45606	D	0.000360	T	0.77445	0.4131	L	0.27053	0.805	0.46499	D	0.999077	D;D	0.89917	1.0;0.998	D;P	0.67382	0.951;0.829	T	0.75657	-0.3242	10	0.42905	T	0.14	.	9.1127	0.36737	0.0:0.8975:0.0:0.1025	.	256;256	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	Y	256	ENSP00000403902:D256Y;ENSP00000354218:D256Y	ENSP00000354218:D256Y	D	-	1	0	PPP1R13L	50591481	1.000000	0.71417	0.975000	0.42487	0.005000	0.04900	3.589000	0.53972	1.039000	0.40074	-0.258000	0.10820	GAC	-	NULL		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	protein_coding	OTTHUMT00000457586.1	C	NM_006663		50591481	-1	no_errors	NM_006663	genbank	human	validated	54_36p	missense	SNP	1.000	A
ITGB7	3695	genome.wustl.edu	37	12	53587133	53587133	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr12:53587133C>T	ENST00000267082.5	-	12	1748	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.R506H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	506	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGACCTAGGCGGCCAGGGGC	0.607																																																0			12											18.0	20.0	19.0					12																	53587133		2202	4299	6501	51873400	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1517G>A	12.37:g.53587133C>T	ENSP00000267082:p.Arg506His		51873400	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	HMMSmart_SM00423,HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_INTEGRIN_BETA,HMMPfam_EGF_2,PatternScan_EGF_2,PatternScan_4FE4S_FER_1,superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail,HMMPfam_Integrin_b_cyt	p.R506H	ENST00000267082.5	37	c.1517	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597368	0.28445	.	.	ENSG00000139626	ENST00000422257;ENST00000267082	D;D	0.90788	-2.73;-2.73	4.59	2.76	0.32466	.	0.000000	0.41605	D	0.000858	T	0.80460	0.4627	L	0.28556	0.865	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.68872	-0.5294	10	0.15066	T	0.55	.	5.3433	0.15996	0.0:0.6445:0.0:0.3555	.	506	P26010	ITB7_HUMAN	H	506	ENSP00000408741:R506H;ENSP00000267082:R506H	ENSP00000267082:R506H	R	-	2	0	ITGB7	51873400	0.017000	0.18338	0.999000	0.59377	0.690000	0.40134	0.209000	0.17435	1.291000	0.44653	0.563000	0.77884	CGC	-	superfamily_EGF/Laminin,PatternScan_EGF_1		0.607	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	protein_coding	OTTHUMT00000405821.2	C			51873400	-1	no_errors	NM_000889	genbank	human	provisional	54_36p	missense	SNP	0.083	T
FGF21	26291	genome.wustl.edu	37	19	49259694	49259694	+	Silent	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr19:49259694G>A	ENST00000593756.1	+	2	773	c.201G>A	c.(199-201)ggG>ggA	p.G67G	FUT1_ENST00000601931.1_5'Flank|FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.G67G			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	67					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGAGGATGGGACGGTGGGGG	0.642																																																0			19											27.0	28.0	28.0					19																	49259694		2203	4300	6503	53951506	SO:0001819	synonymous_variant	26291			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.201G>A	19.37:g.49259694G>A			53951506	Q8N683	Silent	SNP	HMMSmart_FGF,superfamily_Cytok_IL1_like,HMMPfam_FGF,PatternScan_HBGF_FGF	p.G67	ENST00000593756.1	37	c.201	CCDS12734.1	19																																																																																			-	HMMSmart_FGF,superfamily_Cytok_IL1_like,HMMPfam_FGF		0.642	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF21	protein_coding	OTTHUMT00000466200.1	G			53951506	+1	no_errors	NM_019113	genbank	human	reviewed	54_36p	silent	SNP	0.927	A
KDR	3791	genome.wustl.edu	37	4	55972056	55972056	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr4:55972056A>T	ENST00000263923.4	-	12	1883	c.1588T>A	c.(1588-1590)Tgt>Agt	p.C530S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	530	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCGCTTCACATTTGTACAAA	0.488			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											280.0	268.0	272.0					4																	55972056		2203	4300	6503	55666813	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1588T>A	4.37:g.55972056A>T	ENSP00000263923:p.Cys530Ser		55666813	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.C530S	ENST00000263923.4	37	c.1588	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926885	0.92319	.	.	ENSG00000128052	ENST00000263923	T	0.58210	0.35	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.81125	-0.1075	10	0.56958	D	0.05	.	15.0625	0.71967	1.0:0.0:0.0:0.0	.	530;530	P35968-2;P35968	.;VGFR2_HUMAN	S	530	ENSP00000263923:C530S	ENSP00000263923:C530S	C	-	1	0	KDR	55666813	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	1.956000	0.56807	0.460000	0.39030	TGT	-	superfamily_SSF48726,HMMSmart_IG		0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	A			55666813	-1	no_errors	NM_002253	genbank	human	validated	54_36p	missense	SNP	1.000	T
LEPR	3953	genome.wustl.edu	37	1	66067629	66067629	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:66067629A>T	ENST00000349533.6	+	10	1574	c.1389A>T	c.(1387-1389)caA>caT	p.Q463H	LEPR_ENST00000371060.3_Missense_Mutation_p.Q463H|LEPR_ENST00000344610.8_Missense_Mutation_p.Q463H|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.Q463H|LEPR_ENST00000371059.3_Missense_Mutation_p.Q463H	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCACTTTGCAATTGAGGTATC	0.343																																																0			1											155.0	166.0	162.0					1																	66067629		2203	4300	6503	65840217	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1389A>T	1.37:g.66067629A>T	ENSP00000330393:p.Gln463His		65840217	Q6FHL5	Missense_Mutation	SNP	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1,HMMPfam_Lep_receptor_Ig,PatternScan_HEMATOPO_REC_L_F2	p.Q463H	ENST00000349533.6	37	c.1389	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368327	0.42003	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.0	3.1	0.35709	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.417958	0.28119	N	0.016531	T	0.47173	0.1431	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.997;0.999	T	0.50717	-0.8795	10	0.56958	D	0.05	-3.699	10.641	0.45592	0.1601:0.0:0.8399:0.0	.	463;463;463	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	H	463	ENSP00000340884:Q463H;ENSP00000330393:Q463H;ENSP00000360099:Q463H;ENSP00000360098:Q463H;ENSP00000360097:Q463H	ENSP00000340884:Q463H	Q	+	3	2	LEPR	65840217	1.000000	0.71417	0.986000	0.45419	0.358000	0.29455	3.050000	0.49877	0.497000	0.27926	-0.467000	0.05162	CAA	-	superfamily_Fibronectin type III		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	protein_coding	OTTHUMT00000025275.1	A	NM_002303		65840217	+1	no_errors	NM_002303	genbank	human	validated	54_36p	missense	SNP	1.000	T
ANKRD20A4	728747	genome.wustl.edu	37	9	69421983	69421983	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr9:69421983G>C	ENST00000357336.3	+	14	1728	c.1447G>C	c.(1447-1449)Gtt>Ctt	p.V483L		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	483										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TGAACCAACTGTTCAGTCACT	0.279																																																0			9																																								68711803	SO:0001583	missense	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1447G>C	9.37:g.69421983G>C	ENSP00000349891:p.Val483Leu		68711803		Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.V483L	ENST00000357336.3	37	c.1447	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.106205	0.00356	.	.	ENSG00000172014	ENST00000357336	T	0.14144	2.53	2.26	1.3	0.21679	.	.	.	.	.	T	0.05273	0.0140	N	0.12527	0.23	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43376	-0.9395	9	0.02654	T	1	.	4.462	0.11671	0.2504:0.49:0.2596:0.0	.	483	Q4UJ75	A20A4_HUMAN	L	483	ENSP00000349891:V483L	ENSP00000349891:V483L	V	+	1	0	ANKRD20A4	68711803	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.043000	0.12043	0.254000	0.21573	0.184000	0.17185	GTT	-	NULL		0.279	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	protein_coding	OTTHUMT00000143287.3	G	NM_001098805		68711803	+1	no_errors	NM_001098805	genbank	human	inferred	54_36p	missense	SNP	0.000	C
GDPD2	54857	genome.wustl.edu	37	X	69647010	69647010	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:69647010G>T	ENST00000374382.3	+	9	977	c.726G>T	c.(724-726)atG>atT	p.M242I	GDPD2_ENST00000453994.2_Missense_Mutation_p.M242I|GDPD2_ENST00000536730.1_Missense_Mutation_p.M163I|GDPD2_ENST00000538649.1_Missense_Mutation_p.M163I|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	242	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ACACCCTGATGTCCTTGCGGA	0.587																																																0			X											97.0	81.0	87.0					X																	69647010		2203	4300	6503	69563735	SO:0001583	missense	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.726G>T	X.37:g.69647010G>T	ENSP00000363503:p.Met242Ile		69563735	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD	p.M242I	ENST00000374382.3	37	c.726	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621793	0.87460	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.35	5.35	0.76521	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	L	0.39020	1.185	0.46336	D	0.998996	D;B;P;B	0.69078	0.997;0.27;0.786;0.339	D;B;P;B	0.79108	0.992;0.246;0.771;0.205	T	0.21348	-1.0248	9	.	.	.	-19.5305	16.4918	0.84203	0.0:0.0:1.0:0.0	.	242;28;163;242	B4DVC9;B3KUI6;B4DRH4;Q9HCC8	.;.;.;GDPD2_HUMAN	I	242;163;163;242	ENSP00000414019:M242I;ENSP00000445982:M163I;ENSP00000444601:M163I;ENSP00000363503:M242I	.	M	+	3	0	GDPD2	69563735	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.737000	0.91562	2.464000	0.83262	0.600000	0.82982	ATG	-	superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD		0.587	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	G	NM_017711		69563735	+1	no_errors	NM_017711	genbank	human	provisional	54_36p	missense	SNP	1.000	T
MXD1	4084	genome.wustl.edu	37	2	70142504	70142504	+	Silent	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr2:70142504G>A	ENST00000264444.2	+	1	302	c.42G>A	c.(40-42)gaG>gaA	p.E14E	snoU13_ENST00000458983.1_RNA|MXD1_ENST00000540449.1_Silent_p.E14E	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	14					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGCTGCTGGAGGCGGCCGACT	0.726																																																0			2											11.0	14.0	13.0					2																	70142504		1861	3655	5516	69996008	SO:0001819	synonymous_variant	4084				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.42G>A	2.37:g.70142504G>A			69996008	B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH	p.E14	ENST00000264444.2	37	c.42	CCDS1896.1	2																																																																																			-	NULL		0.726	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD1	protein_coding	OTTHUMT00000251845.3	G	NM_002357		69996008	+1	no_errors	NM_002357	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CXCR3	2833	genome.wustl.edu	37	X	70836959	70836959	+	Silent	SNP	A	A	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:70836959A>T	ENST00000373693.3	-	2	430	c.363T>A	c.(361-363)tcT>tcA	p.S121S	CXCR3_ENST00000373691.4_Silent_p.S168S	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	121					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TGCAGAGGCCAGAGCCAAAGA	0.597																																																0			X											24.0	18.0	20.0					X																	70836959		2193	4282	6475	70753684	SO:0001819	synonymous_variant	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.363T>A	X.37:g.70836959A>T			70753684	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S121	ENST00000373693.3	37	c.363	CCDS14416.1	X																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.597	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	protein_coding	OTTHUMT00000144141.1	A			70753684	-1	no_errors	NM_001504	genbank	human	reviewed	54_36p	silent	SNP	0.148	T
RASGRF1	5923	genome.wustl.edu	37	15	79254512	79254512	+	Nonsense_Mutation	SNP	G	G	A	rs201240796	byFrequency	TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:79254512G>A	ENST00000419573.3	-	28	4070	c.3796C>T	c.(3796-3798)Cga>Tga	p.R1266*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.R482*|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R1250*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1266	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTTCTATTCGGAGAGAAGAC	0.468													g|||	2	0.000399361	0.0	0.0	5008	,	,		17379	0.001		0.001	False		,,,				2504	0.0															0			15											87.0	85.0	86.0					15																	79254512		2196	4292	6488	77041567	SO:0001587	stop_gained	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3796C>T	15.37:g.79254512G>A	ENSP00000405963:p.Arg1266*		77041567	F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF	p.R1266*	ENST00000419573.3	37	c.3796	CCDS10309.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	42	9.784771	0.99263	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	3.96	3.04	0.35103	.	0.171581	0.37577	N	0.002027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	9.3292	0.38012	0.0:0.0:0.7848:0.2152	.	.	.	.	X	1266;1250;482	.	ENSP00000378224:R1250X	R	-	1	2	RASGRF1	77041567	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.980000	0.56895	0.773000	0.33404	-0.323000	0.08544	CGA	-	superfamily_Ras GEF,HMMSmart_SM00147		0.468	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	G	NM_002891		77041567	-1	no_errors	NM_002891	genbank	human	reviewed	54_36p	nonsense	SNP	0.994	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84539699	84539699	+	Silent	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:84539699T>C	ENST00000286744.5	+	9	1172	c.948T>C	c.(946-948)gaT>gaC	p.D316D	ADAMTSL3_ENST00000567476.1_Silent_p.D316D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	316						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATGGCTGATTTCATCTTCA	0.418																																																0			15											72.0	80.0	77.0					15																	84539699		2203	4300	6503	82330703	SO:0001819	synonymous_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.948T>C	15.37:g.84539699T>C			82330703	A1A566|A1A567|Q9ULI7	Silent	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC	p.D316	ENST00000286744.5	37	c.948	CCDS10326.1	15																																																																																			-	NULL		0.418	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	T	NM_207517		82330703	+1	no_errors	NM_207517	genbank	human	validated	54_36p	silent	SNP	0.998	C
ABHD2	11057	genome.wustl.edu	37	15	89694983	89694983	+	Silent	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:89694983G>A	ENST00000352732.5	+	4	790	c.270G>A	c.(268-270)agG>agA	p.R90R	ABHD2_ENST00000565973.1_Silent_p.R90R|ABHD2_ENST00000355100.3_Silent_p.R90R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	90					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAAGGGTGAGGTCGCCACATC	0.512																																					Colon(11;252 417 24570 33239 41878)											0			15											209.0	179.0	189.0					15																	89694983		2200	4299	6499	87495987	SO:0001819	synonymous_variant	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.270G>A	15.37:g.89694983G>A			87495987	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_UPF0017	p.R90	ENST00000352732.5	37	c.270	CCDS10348.1	15																																																																																			-	NULL		0.512	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	protein_coding	OTTHUMT00000309074.2	G			87495987	+1	no_errors	NM_007011	genbank	human	reviewed	54_36p	silent	SNP	0.999	A
CHD2	1106	genome.wustl.edu	37	15	93467709	93467709	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:93467709A>G	ENST00000394196.4	+	3	1289	c.221A>G	c.(220-222)aAa>aGa	p.K74R	CHD2_ENST00000557381.1_Missense_Mutation_p.K74R|CHD2_ENST00000536619.1_Missense_Mutation_p.K87R|CHD2_ENST00000420239.2_Missense_Mutation_p.K74R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	74	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGGTTCCAAATCCCAGCCA	0.507																																																0			15											143.0	145.0	144.0					15																	93467709		2197	4298	6495	91268713	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.221A>G	15.37:g.93467709A>G	ENSP00000377747:p.Lys74Arg		91268713	C6G482|Q96IP5	Missense_Mutation	SNP	HMMSmart_SM00298,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Chromo,PatternScan_CHROMO_1,superfamily_Chromo domain-like,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Homeodomain-like	p.K74R	ENST00000394196.4	37	c.221	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509228	0.64522	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.89810	-2.57;-2.57;0.9;2.75	4.82	4.82	0.62117	.	0.000000	0.36134	U	0.002764	D	0.89283	0.6671	N	0.24115	0.695	0.58432	D	0.999996	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.76071	0.971;0.971;0.987;0.978	D	0.87167	0.2218	10	0.22706	T	0.39	-22.6001	14.5327	0.67936	1.0:0.0:0.0:0.0	.	87;74;74;74	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	R	74;74;74;74;87	ENSP00000377747:K74R;ENSP00000451366:K74R;ENSP00000406581:K74R;ENSP00000443618:K87R	ENSP00000377747:K74R	K	+	2	0	CHD2	91268713	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	8.237000	0.89807	2.031000	0.59945	0.459000	0.35465	AAA	-	NULL		0.507	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	A	NM_001271		91268713	+1	no_errors	NM_001271	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SMURF1	57154	genome.wustl.edu	37	7	98643376	98643376	+	Missense_Mutation	SNP	G	G	A	rs371884669		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr7:98643376G>A	ENST00000361125.1	-	12	1598	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.R401W	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	427	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACCATCAGCCGTTTTTTCAAG	0.453																																																0			7						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	156.0	134.0	141.0		1201,1279,1201	4.1	0.3	7		141	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	401/729,427/758,401/732	98643376	1,13005	2203	4300	6503	98481312	SO:0001583	missense	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1279C>T	7.37:g.98643376G>A	ENSP00000354621:p.Arg427Trp		98481312	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.R427W	ENST00000361125.1	37	c.1279	CCDS34690.1	7	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143323	0.57044	0.0	1.16E-4	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.77098	-1.07;-1.07	6.05	4.09	0.47781	HECT (3);	0.051234	0.85682	D	0.000000	D	0.89157	0.6635	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90182	0.4243	10	0.87932	D	0	.	9.2077	0.37300	0.0806:0.0:0.6785:0.241	.	401;427;401	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	W	401;427	ENSP00000355326:R401W;ENSP00000354621:R427W	ENSP00000354621:R427W	R	-	1	2	SMURF1	98481312	1.000000	0.71417	0.322000	0.25334	0.240000	0.25518	3.961000	0.56759	1.577000	0.49804	0.650000	0.86243	CGG	-	superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119		0.453	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	protein_coding	OTTHUMT00000335001.2	G	NM_020429		98481312	-1	no_errors	NM_020429	genbank	human	reviewed	54_36p	missense	SNP	0.955	A
RGAG1	57529	genome.wustl.edu	37	X	109696863	109696863	+	Silent	SNP	A	A	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:109696863A>C	ENST00000465301.2	+	3	3264	c.3018A>C	c.(3016-3018)acA>acC	p.T1006T	RGAG1_ENST00000540313.1_Silent_p.T1006T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1006										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCACAAACAACATATACCG	0.488																																																0			X											241.0	208.0	219.0					X																	109696863		2203	4300	6503	109583519	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3018A>C	X.37:g.109696863A>C			109583519	Q9P2M8	Silent	SNP	HMMPfam_Retrotrans_gag	p.T1006	ENST00000465301.2	37	c.3018	CCDS14552.1	X																																																																																			-	NULL		0.488	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	protein_coding	OTTHUMT00000057906.2	A	NM_020769		109583519	+1	no_errors	NM_020769	genbank	human	provisional	54_36p	silent	SNP	0.000	C
AMOT	154796	genome.wustl.edu	37	X	112022393	112022393	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:112022393C>A	ENST00000524145.1	-	11	3063	c.2989G>T	c.(2989-2991)Gct>Tct	p.A997S	AMOT_ENST00000304758.1_Missense_Mutation_p.A588S|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.A765S|AMOT_ENST00000371959.3_Missense_Mutation_p.A997S			Q4VCS5	AMOT_HUMAN	angiomotin	997					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGCAGGAGCAGAAGCCTGA	0.622																																																0			X											39.0	36.0	37.0					X																	112022393		2203	4300	6503	111909049	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2989G>T	X.37:g.112022393C>A	ENSP00000429013:p.Ala997Ser		111909049	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	NULL	p.A588S	ENST00000524145.1	37	c.1762	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157773	0.21454	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.38240	1.15;2.06;2.31;2.06	4.81	2.87	0.33458	.	0.123452	0.37437	N	0.002081	T	0.18718	0.0449	L	0.36672	1.1	0.24151	N	0.995698	P	0.35077	0.483	B	0.27887	0.084	T	0.10847	-1.0612	10	0.10377	T	0.69	-0.1472	5.0879	0.14693	0.0:0.6744:0.2087:0.1169	.	997	Q4VCS5	AMOT_HUMAN	S	588;997;765;997	ENSP00000305557:A588S;ENSP00000361027:A997S;ENSP00000361030:A765S;ENSP00000429013:A997S	ENSP00000305557:A588S	A	-	1	0	AMOT	111909049	0.000000	0.05858	0.996000	0.52242	0.079000	0.17450	0.330000	0.19715	1.099000	0.41499	0.600000	0.82982	GCT	-	NULL		0.622	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	C	NM_133265		111909049	-1	no_errors	NM_133265	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
ITGB5	3693	genome.wustl.edu	37	3	124527907	124527907	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:124527907C>A	ENST00000296181.4	-	9	1521	c.1225G>T	c.(1225-1227)Ggt>Tgt	p.G409C		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	409					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTCCTCTGACCAGGATAGGAT	0.473																																																0			3											139.0	136.0	137.0					3																	124527907		2203	4300	6503	126010597	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1225G>T	3.37:g.124527907C>A	ENSP00000296181:p.Gly409Cys		126010597	B0LPF8|B2RD70	Missense_Mutation	SNP	HMMSmart_PSI,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300,HMMSmart_VWA,superfamily_SSF69179,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,HMMSmart_EGF,superfamily_Integrin_bsu_tail,HMMPfam_Integrin_B_tail,HMMPfam_Integrin_b_cyt	p.G409C	ENST00000296181.4	37	c.1225	CCDS3030.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314893|4.314893	0.81358|0.81358	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000496703	T|.	0.65916|.	-0.18|.	5.63|5.63	4.76|4.76	0.60689|0.60689	Integrin beta subunit, N-terminal (2);|.	0.054399|.	0.64402|.	D|.	0.000001|.	T|T	0.80433|0.80433	0.4622|0.4622	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.63033|.	0.91|.	D|D	0.84195|0.84195	0.0447|0.0447	10|5	0.87932|.	D|.	0|.	.|.	13.9982|13.9982	0.64416|0.64416	0.0:0.9268:0.0:0.0732|0.0:0.9268:0.0:0.0732	.|.	409|.	P18084|.	ITB5_HUMAN|.	C|L	409|175	ENSP00000296181:G409C|.	ENSP00000296181:G409C|.	G|W	-|-	1|2	0|0	ITGB5|ITGB5	126010597|126010597	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.838000|0.838000	0.47535|0.47535	5.324000|5.324000	0.65863|0.65863	1.385000|1.385000	0.46445|0.46445	0.655000|0.655000	0.94253|0.94253	GGT|TGG	-	HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179		0.473	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	protein_coding	OTTHUMT00000355286.3	C	NM_002213		126010597	-1	no_errors	NM_002213	genbank	human	provisional	54_36p	missense	SNP	1.000	A
LRRC8A	56262	genome.wustl.edu	37	9	131671021	131671021	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr9:131671021C>G	ENST00000259324.5	+	3	2101	c.1578C>G	c.(1576-1578)aaC>aaG	p.N526K	LRRC8A_ENST00000372600.4_Missense_Mutation_p.N526K|LRRC8A_ENST00000372599.3_Missense_Mutation_p.N526K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	526					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGACGGGCAACCTGAGCGCGG	0.592																																																0			9											48.0	43.0	45.0					9																	131671021		2203	4300	6503	130710842	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1578C>G	9.37:g.131671021C>G	ENSP00000259324:p.Asn526Lys		130710842	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1	p.N526K	ENST00000259324.5	37	c.1578	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020266	0.19433	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.38077	1.16;1.16;1.16	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.93150	3.385	0.58432	D	0.999999	P	0.45902	0.868	B	0.36464	0.225	T	0.61936	-0.6960	10	0.54805	T	0.06	.	12.0556	0.53533	0.0:0.9134:0.0:0.0866	.	526	Q8IWT6	LRC8A_HUMAN	K	526	ENSP00000361682:N526K;ENSP00000361680:N526K;ENSP00000259324:N526K	ENSP00000259324:N526K	N	+	3	2	LRRC8A	130710842	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	6.099000	0.71466	2.677000	0.91161	0.561000	0.74099	AAC	-	superfamily_L domain-like		0.592	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	protein_coding	OTTHUMT00000054516.2	C	NM_019594		130710842	+1	no_errors	NM_019594	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MRPL3	11222	genome.wustl.edu	37	3	131181679	131181679	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:131181679T>C	ENST00000264995.3	-	10	1082	c.935A>G	c.(934-936)aAa>aGa	p.K312R	MRPL3_ENST00000425847.2_Missense_Mutation_p.K339R	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	312					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGGTAGATTTTTACCGAGATC	0.393																																																0			3											99.0	101.0	101.0					3																	131181679		2203	4300	6503	132664369	SO:0001583	missense	11222			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.935A>G	3.37:g.131181679T>C	ENSP00000264995:p.Lys312Arg		132664369	Q6IBT2	Missense_Mutation	SNP	superfamily_Translation proteins,HMMPfam_Ribosomal_L3,PatternScan_RIBOSOMAL_L3	p.K312R	ENST00000264995.3	37	c.935	CCDS3071.1	3	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248407	0.22880	.	.	ENSG00000114686	ENST00000264995;ENST00000425847	T;T	0.42131	0.98;0.98	5.26	3.89	0.44902	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.450396	0.25695	N	0.028911	T	0.31071	0.0785	L	0.36672	1.1	0.31753	N	0.63435	B;B	0.14438	0.007;0.01	B;B	0.13407	0.009;0.008	T	0.28004	-1.0057	10	0.28530	T	0.3	-14.049	10.6735	0.45772	0.0:0.0914:0.0:0.9086	.	339;312	E7ETU7;P09001	.;RM03_HUMAN	R	312;339	ENSP00000264995:K312R;ENSP00000398536:K339R	ENSP00000264995:K312R	K	-	2	0	MRPL3	132664369	1.000000	0.71417	0.350000	0.25708	0.498000	0.33706	2.144000	0.42197	1.977000	0.57605	0.477000	0.44152	AAA	-	superfamily_Translation proteins		0.393	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	protein_coding	OTTHUMT00000356471.3	T	NM_007208		132664369	-1	no_errors	NM_007208	genbank	human	reviewed	54_36p	missense	SNP	0.401	C
ZNF806	646915	genome.wustl.edu	37	2	133075100	133075100	+	IGR	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr2:133075100C>A								AC097532.2 (23150 upstream) : RP11-725P16.2 (28088 downstream)																							TCAATTGGACCTCACGTGATC	0.453																																																0			2																																								132791570	SO:0001628	intergenic_variant	646915																															2.37:g.133075100C>A			132791570		Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.T187		37	c.561		2																																																																																			-	NULL	0	0.453					ZNF806			C			132791570	+1	no_errors	XM_001724242	genbank	human	model	54_36p	silent	SNP	0.020	A
COL5A1	1289	genome.wustl.edu	37	9	137582924	137582924	+	Splice_Site	SNP	T	T	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr9:137582924T>G	ENST00000371817.3	+	2	690	c.276T>G	c.(274-276)ccT>ccG	p.P92P	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	92	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCTGTACCCTGGTAAGTGCC	0.652																																																0			9											73.0	62.0	66.0					9																	137582924		2203	4300	6503	136722745	SO:0001630	splice_region_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.277+1T>G	9.37:g.137582924T>G			136722745	Q15094|Q5SUX4	Silent	SNP	HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.P92	ENST00000371817.3	37	c.276	CCDS6982.1	9																																																																																			-	HMMSmart_TSPN,superfamily_ConA_like_lec_gl		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	protein_coding	OTTHUMT00000054954.2	T	NM_000093	Silent	136722745	+1	no_errors	NM_000093	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
MCF2	4168	genome.wustl.edu	37	X	138669904	138669904	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:138669904C>A	ENST00000370576.4	-	22	2702	c.2493G>T	c.(2491-2493)aaG>aaT	p.K831N	MCF2_ENST00000414978.1_Missense_Mutation_p.K891N|MCF2_ENST00000520602.1_Missense_Mutation_p.K891N|MCF2_ENST00000370573.4_Missense_Mutation_p.K831N|MCF2_ENST00000519895.1_Missense_Mutation_p.K907N|MCF2_ENST00000370578.4_Missense_Mutation_p.K976N|MCF2_ENST00000536274.1_Missense_Mutation_p.K792N|MCF2_ENST00000338585.6_Missense_Mutation_p.K847N	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	831					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAATCTGAAACTTATCCCGTT	0.318																																																0			X											183.0	167.0	172.0					X																	138669904		2203	4300	6503	138497570	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2493G>T	X.37:g.138669904C>A	ENSP00000359608:p.Lys831Asn		138497570	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	HMMSmart_SEC14,superfamily_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.K891N	ENST00000370576.4	37	c.2673	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.677|8.677	0.904225|0.904225	0.17760|0.17760	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.49432|.	1.31;1.21;1.07;1.31;1.31;0.78;1.36;1.18;1.26|.	0.235|0.235	0.235|0.235	0.15431|0.15431	.|.	1.685500|.	0.05724|.	U|.	0.598335|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B;P;P;P;P;P|.	0.48694|.	0.459;0.389;0.013;0.459;0.612;0.459;0.914;0.459|.	B;B;B;B;B;B;B;B|.	0.37601|.	0.25;0.018;0.019;0.196;0.181;0.25;0.254;0.196|.	T|T	0.29274|0.29274	-1.0017|-1.0017	9|4	0.38643|.	T|.	0.18|.	.|.	.|.	.|.	.|.	.|.	907;976;792;831;831;976;847;831|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	N|F	891;831;792;976;891;434;907;831;847|335	ENSP00000427745:K891N;ENSP00000359608:K831N;ENSP00000438155:K792N;ENSP00000359610:K976N;ENSP00000397055:K891N;ENSP00000405848:K434N;ENSP00000430276:K907N;ENSP00000359605:K831N;ENSP00000342204:K847N|.	ENSP00000342204:K847N|.	K|V	-|-	3|1	2|0	MCF2|MCF2	138497570|138497570	0.029000|0.029000	0.19370|0.19370	0.004000|0.004000	0.12327|0.12327	0.325000|0.325000	0.28411|0.28411	0.305000|0.305000	0.19254|0.19254	0.288000|0.288000	0.22398|0.22398	0.292000|0.292000	0.19580|0.19580	AAG|GTT	-	NULL		0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	protein_coding	OTTHUMT00000058560.1	C	NM_005369		138497570	-1	no_errors	NM_001099855	genbank	human	validated	54_36p	missense	SNP	0.012	A
PCDHA2	56146	genome.wustl.edu	37	5	140175375	140175375	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:140175375G>A	ENST00000526136.1	+	1	826	c.826G>A	c.(826-828)Gag>Aag	p.E276K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E276K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E276K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E276*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAACAGCGAGATTGTGTA	0.408																																																2	Substitution - Nonsense(2)	lung(2)	5											111.0	105.0	107.0					5																	140175375		2203	4300	6503	140155559	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.826G>A	5.37:g.140175375G>A	ENSP00000431748:p.Glu276Lys		140155559	O75287|Q9BTV3	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.E276K	ENST00000526136.1	37	c.826	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	15.83	2.949777	0.53186	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.48522	0.81;0.81;0.81	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	0.189398	0.24527	U	0.037751	T	0.39937	0.1097	L	0.53671	1.685	0.29371	N	0.864025	P;P;P	0.44139	0.569;0.827;0.569	B;B;B	0.37833	0.169;0.259;0.169	T	0.48790	-0.9004	10	0.49607	T	0.09	.	10.3926	0.44181	0.0913:0.0:0.9087:0.0	.	276;276;276	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	276	ENSP00000430584:E276K;ENSP00000367372:E276K;ENSP00000431748:E276K	ENSP00000367372:E276K	E	+	1	0	PCDHA2	140155559	0.934000	0.31675	0.354000	0.25760	0.926000	0.56050	1.738000	0.38207	2.238000	0.73509	0.650000	0.86243	GAG	-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.408	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140155559	+1	no_errors	NM_018905	genbank	human	reviewed	54_36p	missense	SNP	0.098	A
PCDHAC1	56135	genome.wustl.edu	37	5	140306756	140306756	+	Silent	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:140306756C>T	ENST00000253807.2	+	1	279	c.279C>T	c.(277-279)tgC>tgT	p.C93C	PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.C93C|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	93	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGCCTGCGTCTTGACCT	0.612																																																0			5											47.0	46.0	47.0					5																	140306756		2203	4300	6503	140286940	SO:0001819	synonymous_variant	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.279C>T	5.37:g.140306756C>T			140286940	Q9Y5F5|Q9Y5I5	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.C93	ENST00000253807.2	37	c.279	CCDS4241.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112		0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	protein_coding	OTTHUMT00000251798.1	C	NM_018898		140286940	+1	no_errors	NM_018898	genbank	human	reviewed	54_36p	silent	SNP	0.033	T
PCDHB16	57717	genome.wustl.edu	37	5	140568460	140568460	+	IGR	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:140568460C>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACGAGGCCCTGCAGGCTT	0.682																																																0			5											86.0	100.0	95.0					5																	140568460		2203	4300	6503	140548644	SO:0001628	intergenic_variant	56127			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568460C>T			140548644	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112	p.P523L	ENST00000361016.2	37	c.1568	CCDS4251.1	5																																																																																			-	NULL		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB9	protein_coding	OTTHUMT00000251800.1	C	NM_020957		140548644	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_019119	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
KEL	3792	genome.wustl.edu	37	7	142640665	142640665	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr7:142640665C>A	ENST00000355265.2	-	15	2085	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	537					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATTGACGTCCCAAGGGGACA	0.557																																																0			7											126.0	105.0	112.0					7																	142640665		2203	4300	6503	142350787	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1611G>T	7.37:g.142640665C>A	ENSP00000347409:p.Trp537Cys		142350787	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13"	p.W537C	ENST00000355265.2	37	c.1611	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496952	0.44352	.	.	ENSG00000197993	ENST00000355265	D	0.81996	-1.56	4.88	4.88	0.63580	Peptidase M13, neprilysin, C-terminal (1);	0.000000	0.56097	D	0.000036	D	0.87763	0.6259	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.61592	0.891	D	0.88023	0.2770	10	0.54805	T	0.06	-6.3826	13.4093	0.60933	0.0:1.0:0.0:0.0	.	537	P23276	KELL_HUMAN	C	537	ENSP00000347409:W537C	ENSP00000347409:W537C	W	-	3	0	KEL	142350787	0.977000	0.34250	0.980000	0.43619	0.420000	0.31355	2.549000	0.45803	2.524000	0.85096	0.655000	0.94253	TGG	-	"superfamily_Metalloproteases (""zincins"") catalytic domain"		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	C	NM_000420		142350787	-1	no_errors	NM_000420	genbank	human	reviewed	54_36p	missense	SNP	0.760	A
PDE4DIP	9659	genome.wustl.edu	37	1	144930928	144930928	+	Intron	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:144930928T>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.T261S|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.T261S|PDE4DIP_ENST00000369349.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTCTCAGTCTCCTCATCT	0.498			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1											158.0	151.0	154.0					1																	144930928		2203	4300	6503	143642285	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7107A>T	1.37:g.144930928T>A			143642285	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	superfamily_SSF57716	p.T261S	ENST00000369354.3	37	c.781	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.331950	0.01298	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11063	2.81;2.81	5.53	-10.7	0.00240	.	.	.	.	.	T	0.01454	0.0047	N	0.19112	0.55	0.19945	N	0.999947	B	0.10296	0.003	B	0.06405	0.002	T	0.47235	-0.9133	9	0.39692	T	0.17	.	6.2235	0.20695	0.091:0.2859:0.4862:0.1369	.	261	Q5VU43-2	.	S	261	ENSP00000316434:T261S;ENSP00000433392:T261S	ENSP00000316434:T261S	T	-	1	0	PDE4DIP	143642285	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.196000	0.03041	-1.446000	0.01945	-0.353000	0.07706	ACT	-	NULL		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	T	NM_022359		143642285	-1	no_errors	NM_001002811	genbank	human	validated	54_36p	missense	SNP	0.000	A
CYP11B2	1585	genome.wustl.edu	37	8	143994750	143994750	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:143994750C>G	ENST00000323110.2	-	6	1074	c.1072G>C	c.(1072-1074)Gca>Cca	p.A358P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	358					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TCGGTGGTTGCCTTCTGGGGA	0.677									Familial Hyperaldosteronism type I																																							0			8											53.0	58.0	56.0					8																	143994750		2203	4300	6503	143991752	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1072G>C	8.37:g.143994750C>G	ENSP00000325822:p.Ala358Pro		143991752	B0ZBE4|Q16726	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.A358P	ENST00000323110.2	37	c.1072	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	10.72	1.429732	0.25726	.	.	ENSG00000179142	ENST00000323110	T	0.69435	-0.4	3.88	1.84	0.25277	.	0.960065	0.08544	N	0.930044	T	0.63988	0.2558	M	0.71581	2.175	0.09310	N	1	B	0.31227	0.314	B	0.38921	0.285	T	0.55592	-0.8117	10	0.30854	T	0.27	.	1.7717	0.03013	0.2211:0.4691:0.1872:0.1226	.	358	P19099	C11B2_HUMAN	P	358	ENSP00000325822:A358P	ENSP00000325822:A358P	A	-	1	0	CYP11B2	143991752	0.006000	0.16342	0.001000	0.08648	0.011000	0.07611	1.383000	0.34385	0.837000	0.34925	0.558000	0.71614	GCA	-	HMMPfam_p450,superfamily_Cytochrome P450		0.677	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	protein_coding	OTTHUMT00000359904.1	C			143991752	-1	no_errors	NM_000498	genbank	human	reviewed	54_36p	missense	SNP	0.004	G
PI4KB	5298	genome.wustl.edu	37	1	151288595	151288595	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:151288595C>G	ENST00000368873.1	-	2	531	c.363G>C	c.(361-363)caG>caC	p.Q121H	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.Q121H|PI4KB_ENST00000368875.2_Missense_Mutation_p.Q133H|PI4KB_ENST00000271657.5_Missense_Mutation_p.Q133H|PI4KB_ENST00000368874.4_Missense_Mutation_p.Q121H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	121	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGTTGTTCTGCCGCCGTC	0.532																																					Colon(154;765 1838 9854 28443 37492)											0			1											81.0	74.0	76.0					1																	151288595		2203	4300	6503	149555219	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.363G>C	1.37:g.151288595C>G	ENSP00000357867:p.Gln121His		149555219	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.Q133H	ENST00000368873.1	37	c.399		1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994358	0.35226	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.46	3.61	0.41365	.	0.123617	0.56097	D	0.000032	T	0.17577	0.0422	L	0.27053	0.805	0.34418	D	0.697194	P;P;P	0.45348	0.856;0.511;0.643	B;B;B	0.38056	0.264;0.087;0.179	T	0.03784	-1.1004	10	0.51188	T	0.08	-9.0E-4	10.9532	0.47343	0.0:0.8486:0.0:0.1514	.	121;121;121	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	H	121;133;133;121;121;121	ENSP00000357868:Q121H;ENSP00000357869:Q133H;ENSP00000271657:Q133H;ENSP00000357867:Q121H;ENSP00000357866:Q121H;ENSP00000394719:Q121H	ENSP00000271657:Q133H	Q	-	3	2	PI4KB	149555219	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.314000	0.51943	0.879000	0.35944	-0.157000	0.13467	CAG	-	NULL		0.532	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	protein_coding	OTTHUMT00000034400.3	C	NM_002651		149555219	-1	no_errors	NM_002651	genbank	human	provisional	54_36p	missense	SNP	1.000	G
F8	2157	genome.wustl.edu	37	X	154158085	154158085	+	Missense_Mutation	SNP	G	G	A	rs200520711		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:154158085G>A	ENST00000360256.4	-	14	4180	c.3980C>T	c.(3979-3981)aCg>aTg	p.T1327M		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1327	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACTACGTTGCGTGACAAAATT	0.408																																																0			X						G	MET/THR	0,3835		0,0,0,1632,571	203.0	171.0	182.0		3980	-1.4	0.0	X		182	1,6727		0,0,1,2428,1871	yes	missense	F8	NM_000132.3	81	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging	1327/2352	154158085	1,10562	2203	4300	6503	153811279	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3980C>T	X.37:g.154158085G>A	ENSP00000353393:p.Thr1327Met		153811279	Q14286|Q5HY69	Missense_Mutation	SNP	superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2	p.T1327M	ENST00000360256.4	37	c.3980	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	9.120	1.008743	0.19199	0.0	1.49E-4	ENSG00000185010	ENST00000360256	D	0.99113	-5.44	4.83	-1.43	0.08884	.	1.454300	0.04222	N	0.333657	D	0.96605	0.8892	L	0.56769	1.78	0.09310	N	1	P	0.51240	0.943	B	0.32805	0.153	D	0.92441	0.5962	10	0.62326	D	0.03	0.8698	4.739	0.13003	0.4567:0.0:0.3977:0.1456	.	1327	P00451	FA8_HUMAN	M	1327	ENSP00000353393:T1327M	ENSP00000353393:T1327M	T	-	2	0	F8	153811279	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.011000	0.12721	-0.635000	0.05531	-0.865000	0.03005	ACG	-	NULL		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	G			153811279	-1	no_errors	NM_000132	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
PLD1	5337	genome.wustl.edu	37	3	171362744	171362744	+	Silent	SNP	G	G	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:171362744G>T	ENST00000351298.4	-	22	2625	c.2499C>A	c.(2497-2499)acC>acA	p.T833T	PLD1_ENST00000356327.5_Silent_p.T795T|PLD1_ENST00000340989.4_Silent_p.T833T|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	833	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCTCCGCCGGTTGAAATGT	0.463																																					NSCLC(149;2174 3517 34058)											0			3											131.0	125.0	127.0					3																	171362744		2203	4300	6503	172845438	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2499C>A	3.37:g.171362744G>T			172845438		Silent	SNP	HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155	p.T833	ENST00000351298.4	37	c.2499	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	G	7.491	0.650673	0.14516	.	.	ENSG00000075651	ENST00000446289	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54801	-0.8239	4	.	.	.	-23.2677	3.2211	0.06716	0.1671:0.1926:0.4518:0.1885	.	.	.	.	Q	96	.	.	P	-	2	0	PLD1	172845438	0.000000	0.05858	0.004000	0.12327	0.915000	0.54546	-4.491000	0.00225	-4.386000	0.00052	-0.150000	0.13652	CCG	-	superfamily_Phospholipase D/nuclease		0.463	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	protein_coding	OTTHUMT00000346730.2	G	NM_002662		172845438	-1	no_errors	NM_002662	genbank	human	validated	54_36p	silent	SNP	0.327	T
POLR2H	5437	genome.wustl.edu	37	3	184081350	184081350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:184081350C>T	ENST00000456318.1	+	2	1119	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CLCN2_ENST00000265593.4_5'Flank|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Nonsense_Mutation_p.R24*|CLCN2_ENST00000423355.2_5'Flank|CLCN2_ENST00000344937.7_5'Flank|CLCN2_ENST00000434054.2_5'Flank|POLR2H_ENST00000430783.1_Nonsense_Mutation_p.R24*|POLR2H_ENST00000443489.1_5'UTR|CLCN2_ENST00000457512.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Nonsense_Mutation_p.R24*|POLR2H_ENST00000438240.1_Intron	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	24	Non-specific ssDNA binding.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGTTTGACCGAGGTAAGTA	0.592											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			3											89.0	82.0	85.0					3																	184081350		2203	4300	6503	185564044	SO:0001587	stop_gained	5437				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.70C>T	3.37:g.184081350C>T	ENSP00000392913:p.Arg24*	1989	185564044	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Nonsense_Mutation	SNP	superfamily_Nucleic acid-binding proteins,HMMSmart_SM00658,HMMPfam_RNA_pol_Rpb8	p.R24*	ENST00000456318.1	37	c.70	CCDS3264.1	3	.	.	.	.	.	.	.	.	.	.	c	41	8.700469	0.98920	.	.	ENSG00000163882	ENST00000456318;ENST00000455712;ENST00000430783;ENST00000296223;ENST00000429568	.	.	.	6.04	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4036	14.6013	0.68443	0.1458:0.8542:0.0:0.0	.	.	.	.	X	24	.	ENSP00000296223:R24X	R	+	1	2	POLR2H	185564044	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.380000	0.52448	2.873000	0.98535	0.563000	0.77884	CGA	-	superfamily_Nucleic acid-binding proteins,HMMSmart_SM00658,HMMPfam_RNA_pol_Rpb8		0.592	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	protein_coding	OTTHUMT00000345558.1	C	NM_006232		185564044	+1	no_errors	NM_006232	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
C1orf116	79098	genome.wustl.edu	37	1	207198264	207198264	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:207198264C>T	ENST00000359470.5	-	3	500	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	84						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GGGCAGTGCTCGGAAACCTCT	0.597																																																0			1											94.0	99.0	97.0					1																	207198264		2203	4300	6503	205264887	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.251G>A	1.37:g.207198264C>T	ENSP00000352447:p.Arg84Gln		205264887	C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.R84Q	ENST00000359470.5	37	c.251	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536801	0.45176	.	.	ENSG00000182795	ENST00000359470	T	0.12569	2.67	5.12	-0.296	0.12824	.	0.416432	0.22367	N	0.060987	T	0.10895	0.0266	M	0.63843	1.955	0.20074	N	0.999934	B	0.19331	0.035	B	0.20384	0.029	T	0.23511	-1.0186	10	0.38643	T	0.18	-0.3437	1.2721	0.02023	0.249:0.4156:0.1213:0.2142	.	84	Q9BW04	SARG_HUMAN	Q	84	ENSP00000352447:R84Q	ENSP00000352447:R84Q	R	-	2	0	C1orf116	205264887	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.712000	0.01885	-0.067000	0.12976	-0.899000	0.02877	CGA	-	NULL		0.597	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	protein_coding	OTTHUMT00000088973.1	C	NM_024115		205264887	-1	no_errors	NM_023938	genbank	human	validated	54_36p	missense	SNP	0.000	T
DLGAP2	9228	genome.wustl.edu	37	8	1649450	1649461	+	In_Frame_Del	DEL	CGCCAGGAAGCC	CGCCAGGAAGCC	-	rs200619278		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	CGCCAGGAAGCC	CGCCAGGAAGCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:1649450_1649461delCGCCAGGAAGCC	ENST00000421627.2	+	12	2940_2951	c.2806_2817delCGCCAGGAAGCC	c.(2806-2817)cgccaggaagccdel	p.RQEA936del		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1015					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACAGACAACGCCAGGAAGCCCGGAGGCGCC	0.608																																																0			8																																								1636868	SO:0001651	inframe_deletion	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2806_2817delCGCCAGGAAGCC	8.37:g.1649450_1649461delCGCCAGGAAGCC	ENSP00000400258:p.Arg936_Ala939del		1636857	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	In_Frame_Del	DEL	HMMPfam_GKAP	p.QEAR937in_frame_del	ENST00000421627.2	37	c.2806_2817	CCDS47760.1	8																																																																																			-	HMMPfam_GKAP		0.608	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	protein_coding	OTTHUMT00000374478.1	CGCCAGGAAGCC	NM_004745		1636868	+1	no_errors	NM_004745	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.999:0.997:0.207:0.984:0.998:1.000:1.000:1.000:0.998:1.000:1.000:0.834	-
TP53	7157	genome.wustl.edu	37	17	7578462	7578467	+	In_Frame_Del	DEL	GCGGGT	GCGGGT	-	rs563378859|rs371524413		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	GCGGGT	GCGGGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:7578462_7578467delGCGGGT	ENST00000269305.4	-	5	652_657	c.463_468delACCCGC	c.(463-468)acccgcdel	p.TR155del	TP53_ENST00000455263.2_In_Frame_Del_p.TR155del|TP53_ENST00000413465.2_In_Frame_Del_p.TR155del|TP53_ENST00000420246.2_In_Frame_Del_p.TR155del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.TR155del|TP53_ENST00000445888.2_In_Frame_Del_p.TR155del	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156P(24)|p.T155N(22)|p.T155P(17)|p.T155I(14)|p.R156fs*14(11)|p.T155A(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.T155T(5)|p.P152fs*14(5)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156L(3)|p.R156fs*25(3)|p.R156G(3)|p.G154fs*14(2)|p.T155S(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.V157fs*24(2)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T23P(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.V157fs*9(1)|p.T62P(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.R156_V157insV(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.G154_R156delGTR(1)|p.V157fs*25(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)	TGGCGCGGACGCGGGTGCCGGGCGGG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	194	Substitution - Missense(118)|Deletion - Frameshift(34)|Deletion - In frame(12)|Whole gene deletion(8)|Substitution - coding silent(8)|Insertion - Frameshift(7)|Unknown(5)|Insertion - In frame(1)|Complex - frameshift(1)	lung(36)|breast(25)|ovary(20)|upper_aerodigestive_tract(19)|oesophagus(17)|large_intestine(11)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(9)|stomach(8)|urinary_tract(8)|skin(8)|bone(6)|liver(4)|pancreas(4)|prostate(3)|soft_tissue(2)|kidney(2)|genital_tract(1)|biliary_tract(1)	17	GRCh37	CM942117|CM984589	TP53	M																																				7519192	SO:0001651	inframe_deletion	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.463_468delACCCGC	17.37:g.7578462_7578467delGCGGGT	ENSP00000269305:p.Thr155_Arg156del		7519187	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	In_Frame_Del	DEL	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.TR155in_frame_del	ENST00000269305.4	37	c.468_463	CCDS11118.1	17																																																																																			-	HMMPfam_P53,superfamily_p53-like transcription factors		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	GCGGGT	NM_000546		7519192	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.002:0.005:0.005:0.007:0.002:0.000	-
MPHOSPH8	54737	genome.wustl.edu	37	13	20221098	20221098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr13:20221098delT	ENST00000361479.5	+	3	953	c.885delT	c.(883-885)agtfs	p.S295fs	MPHOSPH8_ENST00000414242.2_Frame_Shift_Del_p.S295fs	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACACTAAAAGTGCAAGAGAGA	0.493																																																0			13											90.0	97.0	95.0					13																	20221098		2203	4300	6503	19119098	SO:0001589	frameshift_variant	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.885delT	13.37:g.20221098delT	ENSP00000355388:p.Ser295fs		19119098	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Frame_Shift_Del	DEL	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,PatternScan_CHROMO_1,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.S295fs	ENST00000361479.5	37	c.885	CCDS9287.1	13																																																																																			-	NULL		0.493	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	protein_coding	OTTHUMT00000044028.2	T	NM_017520		19119098	+1	no_errors	NM_017520	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.001	-
TMEM196	256130	genome.wustl.edu	37	7	19765386	19765412	+	Start_Codon_Del	DEL	GATCATCTGATAAGAAAAAGAAAGGCA	GATCATCTGATAAGAAAAAGAAAGGCA	-			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	GATCATCTGATAAGAAAAAGAAAGGCA	GATCATCTGATAAGAAAAAGAAAGGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr7:19765386_19765412delGATCATCTGATAAGAAAAAGAAAGGCA	ENST00000422233.1	-	0	89_94				TMEM196_ENST00000433641.1_Start_Codon_Del|TMEM196_ENST00000405844.1_Splice_Site_p.CL69del|TMEM196_ENST00000493519.1_Start_Codon_Del|TMEM196_ENST00000405764.3_Splice_Site_p.CL69del			Q5HYL7	TM196_HUMAN	transmembrane protein 196							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CTGAAAAGAGGATCATCTGATAAGAAAAAGAAAGGCAGCGTTAAAGT	0.454																																																0			7																																								19731937	SO:0001582	initiator_codon_variant	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504		7.37:g.19765386_19765412delGATCATCTGATAAGAAAAAGAAAGGCA			19731911	Q8N6I6	Splice_Site	DEL	-	e1-1	ENST00000422233.1	37	c.1-21_47		7																																																																																			-	-		0.454	TMEM196-004	PUTATIVE	basic	protein_coding	TMEM196	protein_coding	OTTHUMT00000326540.2	GATCATCTGATAAGAAAAAGAAAGGCA	NM_152774		19731937	-1	no_errors	NM_152774	genbank	human	validated	54_36p	splice_site_del	DEL	0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.983:0.003:0.001:0.000:0.001:0.001:0.016:0.047:0.005:0.031:0.035:0.014:0.005:0.006:0.009:0.001:0.000:0.000:0.000	-
ZFYVE19	84936	genome.wustl.edu	37	15	41099899	41099900	+	Frame_Shift_Ins	INS	-	-	GGGGC	rs371684343|rs200042011|rs142730574|rs369585041	byFrequency	TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:41099899_41099900insGGGGC	ENST00000355341.4	+	1	613_614	c.112_113insGGGGC	c.(112-114)tggfs	p.-40fs	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000299173.10_Frame_Shift_Ins_p.-40fs|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000570108.1_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTGGGCGTGTGgggcggggca	0.718														1685	0.336462	0.3411	0.3112	5008	,	,		13821	0.2252		0.3777	False		,,,				2504	0.4202															0			15								1226,2460		247,732,864						2.0	0.3		dbSNP_130	17	2598,5206		494,1610,1798	no	frameshift	ZFYVE19	NM_001077268.1		741,2342,2662	A1A1,A1R,RR		33.2906,33.261,33.2811				3824,7666				38887192	SO:0001589	frameshift_variant	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.118_122dupGGGGC	15.37:g.41099905_41099909dupGGGGC	ENSP00000347498:p.Gly40fs		38887191	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Frame_Shift_Ins	INS	HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger,HMMPfam_FYVE,PatternScan_2FE2S_FER_1	p.A42fs	ENST00000355341.4	37	c.112_113	CCDS42025.1	15																																																																																			-	NULL		0.718	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	protein_coding	OTTHUMT00000418996.1	-	NM_032850		38887192	+1	no_errors	NM_001077268	genbank	human	validated	54_36p	frame_shift_ins	INS	0.027:0.013	GGGGC
CDC20	991	genome.wustl.edu	37	1	43825411	43825433	+	Frame_Shift_Del	DEL	TGGGCTTTGAACCTGAACGGTTT	TGGGCTTTGAACCTGAACGGTTT	-	rs17849349|rs149953181|rs2069380|rs113848060	byFrequency	TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	TGGGCTTTGAACCTGAACGGTTT	TGGGCTTTGAACCTGAACGGTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:43825411_43825433delTGGGCTTTGAACCTGAACGGTTT	ENST00000372462.1	+	3	549_571	c.346_368delTGGGCTTTGAACCTGAACGGTTT	c.(346-369)tgggctttgaacctgaacggttttfs	p.WALNLNGF116fs	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Frame_Shift_Del_p.WALNLNGF116fs			Q12834	CDC20_HUMAN	cell division cycle 20	116					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAG	0.507																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0			1																																								43598020	SO:0001589	frameshift_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.346_368delTGGGCTTTGAACCTGAACGGTTT	1.37:g.43825411_43825433delTGGGCTTTGAACCTGAACGGTTT	ENSP00000361540:p.Trp116fs		43597998	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Frame_Shift_Del	DEL	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.W116fs	ENST00000372462.1	37	c.346_368	CCDS484.1	1																																																																																			-	superfamily_WD40_like		0.507	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	protein_coding	OTTHUMT00000019488.1	TGGGCTTTGAACCTGAACGGTTT	NM_001255		43598020	+1	no_errors	NM_001255	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:0.997:0.593:0.587:0.867:0.895:0.903:0.901:0.888:0.994:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000	-
