#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	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
Unknown	0	genome.wustl.edu	37	X	55198491	55198491	+	IGR	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chrX:55198491G>A								FAM104B (10748 upstream) : MTRNR2L10 (9332 downstream)																							TGCTGTTGGAGGTATCTGAGT	0.622																																						dbGAP											0			X																																								55215216	SO:0001628	intergenic_variant	0																															X.37:g.55198491G>A		238	1.24	3		NA	NA	NA	55215216	21	87.43	146		Silent	SNP	HMMPfam_GAGE	p.E35		37	c.105		X																																																																																			-	NULL	0	0.622					LOC100129876			G			55215216	+1	no_errors	XM_001715675.1	genbank	human	model	54_36p	silent	SNP	0.007	A
RBMX	27316	genome.wustl.edu	37	X	135961574	135961574	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chrX:135961574C>A	ENST00000320676.7	-	2	167	c.13G>T	c.(13-15)Gat>Tat	p.D5Y	RBMX_ENST00000562646.1_Missense_Mutation_p.D5Y|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.D5Y	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	5					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGCGATCTGCTTCAACC	0.398																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X											90.0	85.0	86.0					X																	135961574		2203	4300	6503	135789240	SO:0001583	missense	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.13G>T	X.37:g.135961574C>A	ENSP00000359645:p.Asp5Tyr	284	2.73972602739726	8		8	94.08	143	135789240	37	86.6425992779783	240	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RBM1CTR,superfamily_RNA-binding domain RBD	p.D5Y	ENST00000320676.7	37	c.13	CCDS14661.1	X	.	.	.	.	.	.	.	.	.	.	.	24.9	4.580960	0.86748	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	T;T	0.80033	3.07;-1.33	4.66	4.66	0.58398	.	0.000000	0.85682	U	0.000000	D	0.89887	0.6845	M	0.80982	2.52	0.80722	D	1	D;P;D	0.89917	0.996;0.907;1.0	D;P;D	0.77004	0.943;0.837;0.989	D	0.91724	0.5391	10	0.87932	D	0	.	16.9027	0.86117	0.0:1.0:0.0:0.0	.	5;5;5	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	Y	5	ENSP00000411989:D5Y;ENSP00000359645:D5Y	ENSP00000359645:D5Y	D	-	1	0	RBMX	135789240	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.677000	0.84024	1.905000	0.55150	0.508000	0.49915	GAT	-	NULL		0.398	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	protein_coding	OTTHUMT00000058507.1	C	NM_002139		135789240	-1	no_errors	NM_002139.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TP73	7161	genome.wustl.edu	37	1	3638739	3638739	+	Missense_Mutation	SNP	C	C	T	rs531840948		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:3638739C>T	ENST00000378295.4	+	5	739	c.584C>T	c.(583-585)cCc>cTc	p.P195L	TP73_ENST00000604479.1_Missense_Mutation_p.P195L|TP73_ENST00000354437.4_Missense_Mutation_p.P195L|TP73_ENST00000378285.1_Missense_Mutation_p.P146L|TP73_ENST00000603362.1_Missense_Mutation_p.P195L|TP73_ENST00000378290.4_Missense_Mutation_p.P124L|TP73_ENST00000378280.1_Missense_Mutation_p.P146L|TP73_ENST00000378288.4_Missense_Mutation_p.P146L|TP73_ENST00000604074.1_Missense_Mutation_p.P195L|TP73_ENST00000357733.3_Missense_Mutation_p.P195L|TP73_ENST00000346387.4_Missense_Mutation_p.P195L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	195	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P195L(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AAACGCTGCCCCAACCACGAG	0.662																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											58.0	54.0	55.0					1																	3638739		2201	4298	6499	3628599	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.584C>T	1.37:g.3638739C>T	ENSP00000367545:p.Pro195Leu	473	1.45833333333333	7		NA	NA	NA	3628599	272	43.2150313152401	207	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	HMMSmart_SM00454,PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_P53	p.P195L	ENST00000378295.4	37	c.584	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484063	0.63962	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057743	0.64402	D	0.000001	D	0.99661	0.9874	M	0.66506	2.035	0.80722	D	1	P;P;P;P;P;P	0.47841	0.779;0.901;0.887;0.498;0.832;0.78	B;P;B;B;P;B	0.49853	0.131;0.624;0.33;0.105;0.593;0.261	D	0.96851	0.9625	10	0.54805	T	0.06	-26.5641	13.7221	0.62735	0.0:1.0:0.0:0.0	.	146;146;146;146;195;195	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	195;195;195;195;146;146;146;124	ENSP00000367545:P195L;ENSP00000346423:P195L;ENSP00000350366:P195L;ENSP00000340740:P195L;ENSP00000367537:P146L;ENSP00000367534:P146L;ENSP00000367529:P146L;ENSP00000367539:P124L	ENSP00000340740:P195L	P	+	2	0	TP73	3628599	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.400000	0.79949	1.762000	0.52044	0.491000	0.48974	CCC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3628599	+1	no_errors	NM_005427.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GBP4	115361	genome.wustl.edu	37	1	89660980	89660980	+	Splice_Site	SNP	C	C	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:89660980C>A	ENST00000355754.6	-	3	460	c.363G>T	c.(361-363)aaG>aaT	p.K121N		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	121	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K121N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTGCCTTACCTTTTCTACAT	0.473																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											113.0	107.0	109.0					1																	89660980		2203	4300	6503	89433568	SO:0001630	splice_region_variant	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.363+1G>T	1.37:g.89660980C>A		572	0.174520069808028	1		35	0.00	0	89433568	650	1.36570561456753	9	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540	p.K121N	ENST00000355754.6	37	c.363	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533481	0.64972	.	.	ENSG00000162654	ENST00000355754	T	0.78364	-1.17	5.29	4.38	0.52667	Guanylate-binding protein, N-terminal (1);	0.056969	0.64402	D	0.000002	T	0.74176	0.3682	M	0.88775	2.98	0.40062	D	0.975904	P	0.37330	0.59	B	0.39904	0.313	T	0.77694	-0.2492	9	.	.	.	.	11.4633	0.50223	0.0:0.9133:0.0:0.0867	.	121	Q96PP9	GBP4_HUMAN	N	121	ENSP00000359490:K121N	.	K	-	3	2	GBP4	89433568	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	4.187000	0.58344	1.469000	0.48083	0.591000	0.81541	AAG	-	HMMPfam_GBP,superfamily_SSF52540		0.473	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941	Missense_Mutation	89433568	-1	no_errors	NM_052941.4	genbank	human	validated	54_36p	missense	SNP	1.000	A
ARHGEF2	9181	genome.wustl.edu	37	1	155922486	155922486	+	Silent	SNP	G	G	T	rs151138617		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:155922486G>T	ENST00000361247.4	-	15	2016	c.1917C>A	c.(1915-1917)ggC>ggA	p.G639G	ARHGEF2_ENST00000313667.4_Silent_p.G638G|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.G611G|ARHGEF2_ENST00000462460.2_Silent_p.G684G|ARHGEF2_ENST00000368315.4_Silent_p.G640G|ARHGEF2_ENST00000313695.7_Silent_p.G611G	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	639					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G611G(3)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCGGAAAAGGCCCCTGGGCA	0.642																																					Melanoma(178;35 2768 6610 28839)	dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1						G	,,	1,4405	2.1+/-5.4	0,1,2202	80.0	76.0	78.0		1917,1914,1833	1.1	1.0	1	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,	639/987,638/986,611/959	155922486	1,13005	2203	4300	6503	154189110	SO:0001819	synonymous_variant	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1917C>A	1.37:g.155922486G>T		558	1.41	8		48	54.29	57	154189110	294	44.65	238	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain	p.G611	ENST00000361247.4	37	c.1833	CCDS53376.1	1																																																																																			-	NULL		0.642	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	protein_coding	OTTHUMT00000046204.2	G	NM_004723		154189110	-1	no_errors	NM_004723.2	genbank	human	reviewed	54_36p	silent	SNP	0.971	T
EIF2D	1939	genome.wustl.edu	37	1	206772865	206772865	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:206772865T>C	ENST00000271764.2	-	10	1362	c.1154A>G	c.(1153-1155)tAc>tGc	p.Y385C	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.Y261C	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	385					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.Y385C(3)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGGACACAGTAGAGGGGTTT	0.552																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											81.0	90.0	87.0					1																	206772865		2203	4300	6503	204839488	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1154A>G	1.37:g.206772865T>C	ENSP00000271764:p.Tyr385Cys	539	2.00	11		47	51.55	50	204839488	335	47.51	305	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	HMMPfam_SUI1,superfamily_eIF1-like,HMMSmart_SM00359,superfamily_SWIB/MDM2 domain,superfamily_PUA domain-like	p.Y385C	ENST00000271764.2	37	c.1154	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165633	0.78339	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.54279	0.58;1.12	5.87	5.87	0.94306	SWIB/MDM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.64404	1.975	0.80722	D	1	D;P	0.89917	1.0;0.944	D;P	0.91635	0.999;0.635	T	0.70773	-0.4781	10	0.51188	T	0.08	-13.4437	15.1024	0.72292	0.0:0.0:0.0:1.0	.	261;385	P41214-2;P41214	.;EIF2D_HUMAN	C	261;385	ENSP00000356081:Y261C;ENSP00000271764:Y385C	ENSP00000271764:Y385C	Y	-	2	0	EIF2D	204839488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.242000	0.73789	0.533000	0.62120	TAC	-	superfamily_SWIB/MDM2 domain		0.552	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGTN	protein_coding	OTTHUMT00000088475.1	T	NM_006893		204839488	-1	no_errors	NM_006893.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DDX1	1653	genome.wustl.edu	37	2	15757366	15757366	+	Splice_Site	SNP	A	A	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr2:15757366A>G	ENST00000381341.2	+	16	1406		c.e16-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.?(3)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GCTTTTTTTCAGGTAGATATA	0.343																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	2											156.0	156.0	156.0					2																	15757366		2203	4300	6503	15674817	SO:0001630	splice_region_variant	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1018-1A>G	2.37:g.15757366A>G		547	1.79533213644524	10		0	100.00	3	15674817	383	46.6573816155989	335	B4DME8|B4DPN6	Splice_Site	SNP	-	e15-2	ENST00000381341.2	37	c.1018-2	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193050	0.58017	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	.	.	.	5.78	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1281	0.59366	0.8663:0.1337:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15674817	1.000000	0.71417	0.961000	0.40146	0.824000	0.46624	9.019000	0.93662	1.001000	0.39076	0.482000	0.46254	.	-	-		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	protein_coding	OTTHUMT00000207141.2	A	NM_004939	Intron	15674817	+1	no_errors	NM_004939.1	genbank	human	reviewed	54_36p	splice_site	SNP	0.994	G
ATG16L1	55054	genome.wustl.edu	37	2	234172658	234172658	+	Silent	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr2:234172658C>T	ENST00000392017.4	+	4	593	c.336C>T	c.(334-336)gaC>gaT	p.D112D	ATG16L1_ENST00000392020.4_Silent_p.D112D|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Silent_p.D112D	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	112					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.D112D(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGGTGATTGACCTGAATAACC	0.443																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											125.0	127.0	126.0					2																	234172658		2203	4300	6503	233837397	SO:0001819	synonymous_variant	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.336C>T	2.37:g.234172658C>T		637	1.54559505409583	10		29	17.14	6	233837397	366	44.7963800904977	297	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.D112	ENST00000392017.4	37	c.336	CCDS2503.2	2																																																																																			-	superfamily_WD40 repeat-like,HMMPfam_ATG16		0.443	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	protein_coding	OTTHUMT00000257069.2	C	NM_017974		233837397	+1	no_errors	NM_030803.3	genbank	human	validated	54_36p	silent	SNP	1.000	T
HJURP	55355	genome.wustl.edu	37	2	234750541	234750541	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr2:234750541G>A	ENST00000411486.2	-	8	950	c.885C>T	c.(883-885)tcC>tcT	p.S295S	HJURP_ENST00000432087.1_Silent_p.S241S|HJURP_ENST00000441687.1_Silent_p.S210S|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	295			S -> C (in dbSNP:rs3732215). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17823411, ECO:0000269|Ref.2}.		cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.S295S(3)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCCTCCTCCTGGAGTTCCAGT	0.498																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											115.0	106.0	109.0					2																	234750541		2203	4300	6503	234415280	SO:0001819	synonymous_variant	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.885C>T	2.37:g.234750541G>A		675	0.589101620029455	4		15	37.50	9	234415280	450	42.381562099872	331	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	NULL	p.S295	ENST00000411486.2	37	c.885	CCDS33406.1	2																																																																																			-	NULL		0.498	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	G	NM_018410		234415280	-1	no_errors	NM_018410.3	genbank	human	validated	54_36p	silent	SNP	0.000	A
FBN2	2201	genome.wustl.edu	37	5	127697501	127697501	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:127697501G>A	ENST00000508053.1	-	25	3443	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	FBN2_ENST00000262464.4_Silent_p.N823N|FBN2_ENST00000508989.1_Silent_p.N790N			P35556	FBN2_HUMAN	fibrillin 2	823	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.N823N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCACAATCCGTTATCACAAA	0.438																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	5											193.0	166.0	175.0					5																	127697501		2203	4300	6503	127725400	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2469C>T	5.37:g.127697501G>A		1154	0.773860705073087	9		2	0.00	0	127725400	640	43.7609841827768	498	B4DU01|Q59ES6	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.N823	ENST00000508053.1	37	c.2469	CCDS34222.1	5																																																																																			-	HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127725400	-1	no_errors	NM_001999.3	genbank	human	reviewed	54_36p	silent	SNP	0.992	A
PCDHA13	56136	genome.wustl.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											4	Substitution - coding silent(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	5											144.0	139.0	140.0					5																	140263026		2203	4300	6503	140243210	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1173G>A	5.37:g.140263026G>A		758	1.43042912873862	11		NA	NA	NA	140243210	446	45.9393939393939	379	O75277	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.P391	ENST00000289272.2	37	c.1173	CCDS4240.1	5																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.547	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140243210	+1	no_errors	NM_018904.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
PCDHGC4	56098	genome.wustl.edu	37	5	140866094	140866094	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:140866094C>G	ENST00000306593.1	+	1	1354	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A	PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P452A(3)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATAATCCACCCTCTTT	0.483																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	5											79.0	80.0	80.0					5																	140866094		2203	4300	6503	140846278	SO:0001583	missense	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1354C>G	5.37:g.140866094C>G	ENSP00000306918:p.Pro452Ala	930	1.58730158730159	15		12	52.00	13	140846278	540	40	360	Q495T2|Q9Y5C3	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.P452A	ENST00000306593.1	37	c.1354	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.423569	0.01126	.	.	ENSG00000242419	ENST00000306593	T	0.59638	0.25	5.41	4.48	0.54585	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.31327	0.0793	N	0.03608	-0.345	0.29298	N	0.868898	B;B	0.29432	0.137;0.244	B;B	0.28139	0.058;0.086	T	0.03969	-1.0988	9	0.05833	T	0.94	.	14.6501	0.68792	0.0:0.7705:0.2295:0.0	.	452;452	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	A	452	ENSP00000306918:P452A	ENSP00000306918:P452A	P	+	1	0	PCDHGC4	140846278	0.000000	0.05858	1.000000	0.80357	0.895000	0.52256	-0.041000	0.12084	2.533000	0.85409	0.467000	0.42956	CCA	-	HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like		0.483	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	protein_coding	OTTHUMT00000251820.1	C	NM_018928		140846278	+1	no_errors	NM_018928.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	G
DDX41	51428	genome.wustl.edu	37	5	176940353	176940353	+	Splice_Site	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:176940353C>T	ENST00000507955.1	-	11	1754		c.e11+1		DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(2)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACCTGCCCACCTGGATGACA	0.592																																						dbGAP											2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)	5											62.0	68.0	66.0					5																	176940353		2203	4300	6503	176872959	SO:0001630	splice_region_variant	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1230+1G>A	5.37:g.176940353C>T		675	0.442477876106195	3		8	27.27	3	176872959	556	21.1347517730496	149	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	-	e11+1	ENST00000507955.1	37	c.1230+1	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900968	0.72754	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.25	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.153	0.65398	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176872959	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.595000	0.82710	1.438000	0.47492	0.655000	0.94253	.	-	-		0.592	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	protein_coding	OTTHUMT00000253432.2	C	NM_016222	Intron	176872959	-1	no_errors	NM_016222.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
EZR	7430	genome.wustl.edu	37	6	159188046	159188046	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr6:159188046T>C	ENST00000367075.3	-	14	1829	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Missense_Mutation_p.H522R|EZR_ENST00000337147.7_Missense_Mutation_p.H554R	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	554	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.H554R(3)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GTTCTCGTTGTGGATGATGTC	0.557			T	ROS1	NSCLC																																	dbGAP		Dom	yes		6	6q25.3	7430	ezrin		E	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											257.0	214.0	229.0					6																	159188046		2203	4300	6503	159108034	SO:0001583	missense	0			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1661A>G	6.37:g.159188046T>C	ENSP00000356042:p.His554Arg	687	0.72	5		72	44.62	58	159108034	558	44.21	443	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	superfamily_Moesin,HMMPfam_ERM,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF54236	p.H554R	ENST00000367075.3	37	c.1661	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858449	0.91433	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.85702	-2.02;-2.02;-2.02	5.37	5.37	0.77165	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	M	0.88450	2.955	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.987	D	0.93879	0.7169	10	0.87932	D	0	.	15.3591	0.74457	0.0:0.0:0.0:1.0	.	522;554	E7EQR4;P15311	.;EZRI_HUMAN	R	554;554;522	ENSP00000338934:H554R;ENSP00000356042:H554R;ENSP00000376016:H522R	ENSP00000338934:H554R	H	-	2	0	EZR	159108034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.834000	0.86773	2.022000	0.59522	0.459000	0.35465	CAC	-	superfamily_Moesin,HMMPfam_ERM		0.557	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	protein_coding	OTTHUMT00000042878.1	T	NM_003379		159108034	-1	no_errors	NM_003379.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RP1L1	94137	genome.wustl.edu	37	8	10469265	10469265	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr8:10469265G>A	ENST00000382483.3	-	4	2566	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	781					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.S781S(3)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCAGGAGTCGGATGTGTGGG	0.667																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	8											54.0	61.0	58.0					8																	10469265		1954	4127	6081	10506675	SO:0001819	synonymous_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2343C>T	8.37:g.10469265G>A		338	1.16959064327485	4		NA	NA	NA	10506675	187	43.8438438438438	146	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837	p.S781	ENST00000382483.3	37	c.2343	CCDS43708.1	8																																																																																			-	NULL		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G			10506675	-1	no_errors	NM_178857.5	genbank	human	validated	54_36p	silent	SNP	0.026	A
RP1	6101	genome.wustl.edu	37	8	55537655	55537655	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr8:55537655G>A	ENST00000220676.1	+	4	1361	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	405					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A405T(3)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGCAGTTTGGCAGAGGAGAT	0.443																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											91.0	89.0	90.0					8																	55537655		2203	4300	6503	55700208	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1213G>A	8.37:g.55537655G>A	ENSP00000220676:p.Ala405Thr	688	1.57367668097282	11		NA	NA	NA	55700208	489	43.4682080924855	376		Missense_Mutation	SNP	HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837	p.A405T	ENST00000220676.1	37	c.1213	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.885396	0.00532	.	.	ENSG00000104237	ENST00000220676	T	0.32272	1.46	5.15	-0.483	0.12075	.	0.829672	0.10790	N	0.633778	T	0.12092	0.0294	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31806	-0.9930	10	0.14252	T	0.57	.	1.6359	0.02742	0.3606:0.107:0.3766:0.1559	.	405	P56715	RP1_HUMAN	T	405	ENSP00000220676:A405T	ENSP00000220676:A405T	A	+	1	0	RP1	55700208	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.608000	0.05641	-0.155000	0.11098	-0.148000	0.13756	GCA	-	NULL		0.443	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55700208	+1	no_errors	ENST00000220676	ensembl	human	known	54_36p	missense	SNP	0.000	A
CNTLN	54875	genome.wustl.edu	37	9	17226283	17226283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:17226283C>T	ENST00000380647.3	+	3	616	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	CNTLN_ENST00000380641.4_Nonsense_Mutation_p.Q178*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.Q178*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.Q178*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	178					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q178*(3)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAATTTGAACAGGTTGGTGt	0.249																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	9											20.0	20.0	20.0					9																	17226283		1774	4029	5803	17216283	SO:0001587	stop_gained	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.532C>T	9.37:g.17226283C>T	ENSP00000370021:p.Gln178*	386	1.53061224489796	6		6	60.00	9	17216283	257	46.7908902691511	226	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q178*	ENST00000380647.3	37	c.532	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886611	0.91814	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	.	.	.	5.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.4076	0.83691	0.1406:0.8594:0.0:0.0	.	.	.	.	X	178	.	ENSP00000262360:Q178X	Q	+	1	0	CNTLN	17216283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.885000	0.63142	2.435000	0.82474	0.551000	0.68910	CAG	-	superfamily_Prefoldin		0.249	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	protein_coding	OTTHUMT00000051793.3	C	NM_017738		17216283	+1	no_errors	NM_017738.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
RP11-202I11.2	0	genome.wustl.edu	37	9	88379624	88379624	+	lincRNA	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:88379624C>T	ENST00000447148.1	-	0	250																											ATCTTTTAGGCCTTAAACACA	0.378																																						dbGAP											0			9																																								87569444			0																															9.37:g.88379624C>T		460	2.33545647558386	11		1	0.00	0	87569444	275	43.7627811860941	214		Missense_Mutation	SNP	NULL	p.A43V	ENST00000447148.1	37	c.128		9																																																																																			-	NULL		0.378	RP11-202I11.2-001	KNOWN	basic	lincRNA	LOC100129901	lincRNA	OTTHUMT00000052889.1	C			87569444	+1	no_errors	XM_001716099.1	genbank	human	model	54_36p	missense	SNP	0.997	T
COL27A1	85301	genome.wustl.edu	37	9	117044566	117044566	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:117044566G>A	ENST00000356083.3	+	38	4118	c.3727G>A	c.(3727-3729)Gga>Aga	p.G1243R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1243	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G1243R(3)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGTCCTGAAGGAAAATCAGG	0.592																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	9											100.0	105.0	103.0					9																	117044566		2203	4300	6503	116084387	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3727G>A	9.37:g.117044566G>A	ENSP00000348385:p.Gly1243Arg	429	1.37931034482759	6		NA	NA	NA	116084387	285	40.7484407484408	196	Q66K43|Q96JF7	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases	p.G1243R	ENST00000356083.3	37	c.3727	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029945	0.35797	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.86562	-2.14	4.75	4.75	0.60458	.	.	.	.	.	D	0.95382	0.8501	H	0.95574	3.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	9	0.87932	D	0	.	15.6094	0.76704	0.0:0.0:1.0:0.0	.	1243	Q8IZC6	CORA1_HUMAN	R	1243	ENSP00000348385:G1243R	ENSP00000348385:G1243R	G	+	1	0	COL27A1	116084387	1.000000	0.71417	0.998000	0.56505	0.114000	0.19823	6.629000	0.74267	2.345000	0.79718	0.655000	0.94253	GGA	-	HMMPfam_Collagen		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	protein_coding	OTTHUMT00000053763.1	G	NM_032888		116084387	+1	no_errors	NM_032888.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A
OR1J2	26740	genome.wustl.edu	37	9	125273138	125273138	+	Missense_Mutation	SNP	C	C	T	rs200778732		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:125273138C>T	ENST00000335302.5	+	1	58	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20W(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTCCCCATCCGGCCAGAGCA	0.567																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	9											172.0	159.0	163.0					9																	125273138		2203	4300	6503	124312959	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.58C>T	9.37:g.125273138C>T	ENSP00000335575:p.Arg20Trp	891	0.89	8		NA	NA	NA	124312959	608	42.40	449	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R20W	ENST00000335302.5	37	c.58	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196440	0.58126	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01092	5.35	4.93	-6.45	0.01914	.	1.657130	0.04637	U	0.404725	T	0.00875	0.0029	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48896	-0.8994	10	0.52906	T	0.07	.	2.8474	0.05547	0.4856:0.1934:0.1913:0.1297	.	20	Q8NGS2	OR1J2_HUMAN	W	20	ENSP00000335575:R20W	ENSP00000335575:R20W	R	+	1	2	OR1J2	124312959	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-3.485000	0.00455	-0.994000	0.03463	0.586000	0.80456	CGG	-	superfamily_Family A G protein-coupled receptor-like		0.567	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	protein_coding	OTTHUMT00000053932.1	C			124312959	+1	no_errors	NM_054107.1	genbank	human	provisional	54_36p	missense	SNP	0.002	T
P2RY2	5029	genome.wustl.edu	37	11	72945596	72945596	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr11:72945596G>T	ENST00000311131.2	+	3	859	c.392G>T	c.(391-393)cGg>cTg	p.R131L	P2RY2_ENST00000393596.2_Missense_Mutation_p.R131L|P2RY2_ENST00000393597.2_Missense_Mutation_p.R131L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	131					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.R131L(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	AGCGTGCACCGGTGTCTGGGC	0.667																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											86.0	81.0	83.0					11																	72945596		2200	4293	6493	72623244	SO:0001583	missense	0			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.392G>T	11.37:g.72945596G>T	ENSP00000310305:p.Arg131Leu	798	0.37	3		5	54.55	6	72623244	278	46.54	242	B2R9W3|Q96EM8	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R131L	ENST00000311131.2	37	c.392	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640644	0.87859	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	D;D;D	0.97161	-4.27;-4.27;-4.27	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99198	1.0872	10	0.87932	D	0	.	18.0912	0.89476	0.0:0.0:1.0:0.0	.	131	P41231	P2RY2_HUMAN	L	131	ENSP00000377222:R131L;ENSP00000310305:R131L;ENSP00000377221:R131L	ENSP00000310305:R131L	R	+	2	0	P2RY2	72623244	1.000000	0.71417	0.994000	0.49952	0.648000	0.38561	9.745000	0.98856	2.521000	0.84997	0.655000	0.94253	CGG	-	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like		0.667	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	protein_coding	OTTHUMT00000397336.1	G	NM_176072		72623244	+1	no_errors	NM_002564.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DRD2	1813	genome.wustl.edu	37	11	113283325	113283325	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr11:113283325G>A	ENST00000362072.3	-	7	1435	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	DRD2_ENST00000544518.1_Missense_Mutation_p.S363F|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.S335F|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.S364F|DRD2_ENST00000355319.2_Missense_Mutation_p.S366F|DRD2_ENST00000538967.1_Missense_Mutation_p.S366F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	364	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.S364F(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTGCTGGGAGAGCTTCCT	0.572																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											151.0	129.0	136.0					11																	113283325		2201	4296	6497	112788535	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1091C>T	11.37:g.113283325G>A	ENSP00000354859:p.Ser364Phe	661	1.19581464872945	8		NA	NA	NA	112788535	483	42.2248803827751	353	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.S364F	ENST00000362072.3	37	c.1091	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765048	0.69878	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.86651	2.83	0.80722	D	1	D;D;D	0.69078	0.997;0.981;0.969	D;P;D	0.72338	0.977;0.817;0.921	T	0.65067	-0.6258	10	0.20519	T	0.43	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	363;335;364	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	F	366;335;364;363;364;366	ENSP00000347474:S366F;ENSP00000278597:S335F;ENSP00000354859:S364F;ENSP00000441068:S363F;ENSP00000442172:S364F;ENSP00000438215:S366F	ENSP00000278597:S335F	S	-	2	0	DRD2	112788535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	TCC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795		112788535	-1	no_errors	NM_000795.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DAZAP2	9802	genome.wustl.edu	37	12	51636172	51636172	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr12:51636172A>G	ENST00000412716.3	+	4	1053	c.437A>G	c.(436-438)aAc>aGc	p.N146S	DAZAP2_ENST00000551313.1_Missense_Mutation_p.N86S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.N124S|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000439799.2_Missense_Mutation_p.N64S|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.N114S|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Silent_p.Q120Q			Q15038	DAZP2_HUMAN	DAZ associated protein 2	146						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)	p.N146S(3)		haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CAGGGAGCCAACGTCCTCGTA	0.557																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12											276.0	245.0	255.0					12																	51636172		2203	4300	6503	49922439	SO:0001583	missense	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.437A>G	12.37:g.51636172A>G	ENSP00000394699:p.Asn146Ser	1029	0.48	5		202	42.94	152	49922439	505	45.35	419	A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	NULL	p.N146S	ENST00000412716.3	37	c.437	CCDS8809.1	12	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460801	0.43736	.	.	ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.39397	1.21	0.53005	D	0.999968	D;P;B	0.62365	0.991;0.941;0.241	D;P;B	0.74348	0.983;0.874;0.096	T	0.53265	-0.8463	10	0.44086	T	0.13	0.0522	14.7937	0.69863	1.0:0.0:0.0:0.0	.	114;64;146	C9JP84;C9JA96;Q15038	.;.;DAZP2_HUMAN	S	146;64;114;124;86	ENSP00000394699:N146S;ENSP00000398804:N64S;ENSP00000446554:N114S;ENSP00000412812:N124S;ENSP00000447842:N86S	ENSP00000394699:N146S	N	+	2	0	DAZAP2	49922439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.549000	0.73900	2.202000	0.70862	0.533000	0.62120	AAC	-	NULL		0.557	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	protein_coding	OTTHUMT00000405259.2	A	NM_014764		49922439	+1	no_errors	NM_014764.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TMEM132C	92293	genome.wustl.edu	37	12	129178490	129178490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr12:129178490G>A	ENST00000435159.2	+	6	1566	c.1566G>A	c.(1564-1566)tgG>tgA	p.W522*	TMEM132C_ENST00000537538.1_De_novo_Start_InFrame|TMEM132C_ENST00000315208.8_Nonsense_Mutation_p.W138*	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	522						integral component of membrane (GO:0016021)		p.W138*(3)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TCACCGTGTGGGTGCCCCGGC	0.562																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	12											41.0	39.0	40.0					12																	129178490		692	1591	2283	127744443	SO:0001587	stop_gained	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1566G>A	12.37:g.129178490G>A	ENSP00000410852:p.Trp522*	523	0.76	4		NA	NA	NA	127744443	352	40.24	237	Q69YX8	Nonsense_Mutation	SNP	NULL	p.W138*	ENST00000435159.2	37	c.414		12	.	.	.	.	.	.	.	.	.	.	G	41	8.726087	0.98931	.	.	ENSG00000181234	ENST00000435159;ENST00000315208	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	.	.	.	X	522;138	.	ENSP00000324458:W138X	W	+	3	0	TMEM132C	127744443	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.510000	0.98004	2.318000	0.78349	0.467000	0.42956	TGG	-	NULL		0.562	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	protein_coding		G	XM_044062		127744443	+1	no_errors	ENST00000315208	ensembl	human	known	54_36p	nonsense	SNP	1.000	A
DCLK1	9201	genome.wustl.edu	37	13	36428695	36428695	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr13:36428695G>A	ENST00000360631.3	-	6	1187	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000255448.4_Missense_Mutation_p.R326C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	326	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.R326C(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGCCTGAGCGCGGAGTAGAG	0.473																																						dbGAP											4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(4)	13											115.0	105.0	108.0					13																	36428695		2203	4300	6503	35326695	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.976C>T	13.37:g.36428695G>A	ENSP00000353846:p.Arg326Cys	399	0	0		2	0.00	0	35326695	537	0.555555555555556	3	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	HMMSmart_S_TKc,HMMPfam_DCX,HMMSmart_DCX,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF89837	p.R326C	ENST00000360631.3	37	c.976		13	.	.	.	.	.	.	.	.	.	.	G	34	5.329526	0.95733	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451;ENST00000379892	T;T;T;T	0.69040	-0.37;-0.37;-0.37;1.83	5.67	5.67	0.87782	.	0.052262	0.85682	D	0.000000	T	0.78654	0.4317	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	P;D;P	0.64042	0.888;0.921;0.888	T	0.78971	-0.1993	10	0.62326	D	0.03	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	19;326;19	O15075-4;O15075-2;O15075-3	.;.;.	C	18;326;326;19;326;326	ENSP00000255448:R326C;ENSP00000353846:R326C;ENSP00000369223:R19C;ENSP00000369222:R326C	ENSP00000255448:R326C	R	-	1	0	DCLK1	35326695	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	6.830000	0.75319	2.687000	0.91594	0.655000	0.94253	CGC	-	NULL		0.473	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	protein_coding	OTTHUMT00000044487.1	G	NM_004734		35326695	-1	no_errors	NM_004734.3	genbank	human	validated	54_36p	missense	SNP	0.998	A
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	A	rs121913502		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr15:90631934C>A	ENST00000330062.3	-	4	532	c.419G>T	c.(418-420)cGg>cTg	p.R140L	IDH2_ENST00000540499.2_Missense_Mutation_p.R88L|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10L	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	300	Substitution - Missense(300)	haematopoietic_and_lymphoid_tissue(300)	15											103.0	103.0	103.0					15																	90631934		2200	4298	6498	88432938	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>T	15.37:g.90631934C>A	ENSP00000331897:p.Arg140Leu	740	1.59574468085106	12		155	47.10	138	88432938	381	44.6220930232558	307	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R140L	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145092	0.57044	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87256	-2.23;-2.23;-2.23	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.96833	3.89	0.52099	D	0.999946	D	0.67145	0.996	D	0.69479	0.964	D	0.96098	0.9067	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	L	140;10;88	ENSP00000331897:R140L;ENSP00000438457:R10L;ENSP00000446147:R88L	ENSP00000331897:R140L	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432938	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ITGAX	3687	genome.wustl.edu	37	16	31382998	31382998	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr16:31382998C>T	ENST00000268296.4	+	17	2174	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	ITGAX_ENST00000562522.1_Missense_Mutation_p.R685C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	685					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R685C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGACCCTGGCCGCCTGAGTCC	0.602																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											66.0	64.0	65.0					16																	31382998		2197	4300	6497	31290499	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2053C>T	16.37:g.31382998C>T	ENSP00000268296:p.Arg685Cys	952	2.85	28		16	60.98	25	31290499	283	45.30	236	Q8IVA6	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF53300,superfamily_SSF69179,superfamily_SSF69318	p.R685C	ENST00000268296.4	37	c.2053	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264674	0.80358	.	.	ENSG00000140678	ENST00000268296	T	0.52295	0.67	5.4	5.4	0.78164	Integrin alpha-2 (1);	.	.	.	.	T	0.70202	0.3197	M	0.81802	2.56	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.74012	-0.3801	9	0.87932	D	0	.	15.0395	0.71777	0.0:1.0:0.0:0.0	.	685	P20702	ITAX_HUMAN	C	685	ENSP00000268296:R685C	ENSP00000268296:R685C	R	+	1	0	ITGAX	31290499	1.000000	0.71417	0.990000	0.47175	0.725000	0.41563	2.437000	0.44828	2.662000	0.90505	0.655000	0.94253	CGC	-	HMMPfam_Integrin_alpha2,superfamily_SSF69179		0.602	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31290499	+1	no_errors	NM_000887.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF207	7756	genome.wustl.edu	37	17	30677169	30677169	+	5'UTR	SNP	C	C	A	rs371936677		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr17:30677169C>A	ENST00000321233.6	+	0	19				MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000342555.6_5'Flank|ZNF207_ENST00000394670.4_5'UTR|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000341711.6_5'UTR|ZNF207_ENST00000394673.2_5'UTR|ZNF207_ENST00000577908.1_5'Flank	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207						attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCGGGGAACGAGGCCGTCG	0.607																																						dbGAP											0			17											135.0	133.0	134.0					17																	30677169		1568	3582	5150	27701282	SO:0001623	5_prime_UTR_variant	0			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.-136C>A	17.37:g.30677169C>A		320	0	0		15	0.00	0	27701282	361	1.36612021857923	5	A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	RNA	SNP	-	NULL	ENST00000321233.6	37	NULL	CCDS11271.1	17																																																																																			-	-		0.607	ZNF207-003	KNOWN	basic|CCDS	protein_coding	MIRN632	protein_coding	OTTHUMT00000256251.2	C			27701282	+1	no_errors	ENST00000385193	ensembl	human	known	54_36p	rna	SNP	0.749	A
BZRAP1	9256	genome.wustl.edu	37	17	56408622	56408622	+	5'Flank	SNP	C	C	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr17:56408622C>G	ENST00000268893.6	-	0	0				BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1_ENST00000355701.3_5'Flank|MIR142_ENST00000384835.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGTAGGAAACACTACACCCT	0.587																																						dbGAP											0			17											107.0	103.0	104.0					17																	56408622		1568	3582	5150	53763621	SO:0001631	upstream_gene_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153			17.37:g.56408622C>G	Exception_encountered	1707	0.98	17		29	11.76	4	53763621	169	44.95	138	O75111|Q8N5W3	RNA	SNP	-	NULL	ENST00000268893.6	37	NULL	CCDS45742.1	17																																																																																			-	-		0.587	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIRN142	protein_coding	OTTHUMT00000443978.1	C	NM_004758		53763621	-1	no_errors	ENST00000384835	ensembl	human	known	54_36p	rna	SNP	1.000	G
BZRAP1	9256	genome.wustl.edu	37	17	56408625	56408625	+	5'Flank	SNP	T	T	C	rs562696473		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr17:56408625T>C	ENST00000268893.6	-	0	0				BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1_ENST00000355701.3_5'Flank|MIR142_ENST00000384835.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGGAAACACTACACCCTCCA	0.582																																						dbGAP											0			17											109.0	105.0	106.0					17																	56408625		1568	3582	5150	53763624	SO:0001631	upstream_gene_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153			17.37:g.56408625T>C	Exception_encountered	1692	0.82	14		5	83.33	25	53763624	181	40.07	121	O75111|Q8N5W3	RNA	SNP	-	NULL	ENST00000268893.6	37	NULL	CCDS45742.1	17																																																																																			-	-		0.582	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIRN142	protein_coding	OTTHUMT00000443978.1	T	NM_004758		53763624	-1	no_errors	ENST00000384835	ensembl	human	known	54_36p	rna	SNP	1.000	C
MYO1F	4542	genome.wustl.edu	37	19	8606789	8606789	+	Splice_Site	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:8606789C>T	ENST00000338257.8	-	15	1878		c.e15+1			NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF						defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGACCACTCACTGCTCACTGG	0.617																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	19											62.0	66.0	65.0					19																	8606789		2054	4202	6256	8512789	SO:0001630	splice_region_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1610+1G>A	19.37:g.8606789C>T		542	1.45454545454545	8		18	36.67	11	8512789	319	44.6180555555556	257	Q8WWN7	Splice_Site	SNP	-	e15+1	ENST00000338257.8	37	c.1610+1	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799314	0.70567	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5171	0.84303	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO1F	8512789	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.739000	0.84976	2.243000	0.73865	0.462000	0.41574	.	-	-		0.617	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	C		Intron	8512789	-1	no_errors	NM_012335.2	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T
ZNF260	339324	genome.wustl.edu	37	19	37005057	37005057	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:37005057A>G	ENST00000523638.1	-	3	2205	c.1084T>C	c.(1084-1086)Tgt>Cgt	p.C362R	ZNF260_ENST00000592282.1_Missense_Mutation_p.C362R|ZNF260_ENST00000593142.1_Missense_Mutation_p.C362R|ZNF260_ENST00000588993.1_Missense_Mutation_p.C362R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	362					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C362R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CATTCATTACAACCATAGGGT	0.428																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											116.0	105.0	109.0					19																	37005057		2203	4300	6503	41696897	SO:0001583	missense	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1084T>C	19.37:g.37005057A>G	ENSP00000429803:p.Cys362Arg	501	0	0		8	0.00	0	41696897	582	1.18845500848896	7	Q0VF43	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.C362R	ENST00000523638.1	37	c.1084	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286031	0.59867	.	.	ENSG00000254004	ENST00000523638	D	0.85258	-1.96	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94699	0.8290	H	0.97707	4.06	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.95999	0.8992	9	0.87932	D	0	.	12.7941	0.57551	1.0:0.0:0.0:0.0	.	362	Q3ZCT1	ZN260_HUMAN	R	362	ENSP00000429803:C362R	ENSP00000429803:C362R	C	-	1	0	ZNF260	41696897	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.867000	0.75511	1.900000	0.55004	0.459000	0.35465	TGT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.428	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	protein_coding	OTTHUMT00000109564.2	A	NM_001012756		41696897	-1	no_errors	NM_001012756.1	genbank	human	validated	54_36p	missense	SNP	0.744	G
SIX5	147912	genome.wustl.edu	37	19	46266611	46266611	+	IGR	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:46266611C>T	ENST00000317578.6	-	0	3318				AC074212.3_ENST00000457052.2_Silent_p.T565T|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5						lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCCCTGGAACCGCTTCCACAG	0.632																																						dbGAP											0			19																																								50958451	SO:0001628	intergenic_variant	0			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196			19.37:g.46266611C>T		395	0.503778337531486	2		NA	NA	NA	50958451	222	47.7647058823529	203		Silent	SNP	HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_HLH,superfamily_HMG-box	p.T518	ENST00000317578.6	37	c.1554	CCDS12673.1	19																																																																																			-	HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box		0.632	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC388553	protein_coding	OTTHUMT00000417341.3	C	NM_175875		50958451	+1	no_errors	XM_373809.1	genbank	human	model	54_36p	silent	SNP	0.395	T
NCR1	9437	genome.wustl.edu	37	19	55418014	55418014	+	Silent	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:55418014C>T	ENST00000291890.4	+	3	242	c.204C>T	c.(202-204)gcC>gcT	p.A68A	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Silent_p.A68A|NCR1_ENST00000598576.1_Silent_p.A56A|NCR1_ENST00000594765.1_Silent_p.A68A|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Silent_p.A68A	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	68	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.A68A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCCTTTTTGCCGTGGACAGAC	0.493																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											68.0	70.0	69.0					19																	55418014		2203	4300	6503	60109826	SO:0001819	synonymous_variant	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.204C>T	19.37:g.55418014C>T		723	0	0		1	0.00	0	60109826	821	1.20336943441637	10	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	HMMSmart_SM00409,superfamily_Immunoglobulin	p.A68	ENST00000291890.4	37	c.204	CCDS12911.1	19																																																																																			-	HMMSmart_SM00409,superfamily_Immunoglobulin		0.493	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	C			60109826	+1	no_errors	NM_004829.1	genbank	human	validated	54_36p	silent	SNP	0.000	T
KCNQ2	3785	genome.wustl.edu	37	20	62044802	62044802	+	Splice_Site	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr20:62044802C>T	ENST00000359125.2	-	15	1938		c.e15+1		KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000359689.1_Intron|KCNQ2_ENST00000360480.3_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2						axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.?(3)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGGCTCTTGCCTGGACTGCA	0.637																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	20											50.0	43.0	45.0					20																	62044802		2203	4300	6503	61515246	SO:0001630	splice_region_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1763+1G>A	20.37:g.62044802C>T		251	3.46153846153846	9		0	0.00	0	61515246	132	46.9879518072289	117	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Splice_Site	SNP	-	e15+1	ENST00000359125.2	37	c.1763+1	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	c	26.7	4.764966	0.90020	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNQ2	61515246	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.660000	0.83776	2.323000	0.78572	0.556000	0.70494	.	-	-		0.637	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	C	NM_172109	Intron	61515246	-1	no_errors	NM_172107.4	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	21	15137012	15137012	+	IGR	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr21:15137012C>T								AL050303.1 (83553 upstream) : AL050303.7 (5240 downstream)																							TCCTTCCTTGCTAGAAACACA	0.537																																						dbGAP											0			21																																								14058883	SO:0001628	intergenic_variant	0																															21.37:g.15137012C>T		341	1.72910662824208	6		0	0.00	0	14058883	230	44.1747572815534	182		RNA	SNP	-	NULL		37	NULL		21																																																																																			-	-	0	0.537					LOC441957			C			14058883	+1	pseudogene	XR_016199.1	genbank	human	model	54_36p	rna	SNP	0.375	T
