#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARHGEF15	22899	genome.wustl.edu	37	17	8215645	8215645	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr17:8215645C>G	ENST00000361926.3	+	2	398	c.288C>G	c.(286-288)agC>agG	p.S96R	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S96R	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	96	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCTTCCAGCACCCCCACAC	0.677																																						dbGAP											0													115.0	121.0	119.0					17																	8215645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.288C>G	17.37:g.8215645C>G	ENSP00000355026:p.Ser96Arg		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S96R	ENST00000361926.3	37	c.288	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286361	0.23478	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71817	-0.6;-0.6	5.01	0.543	0.17179	.	1.614580	0.03354	N	0.196589	T	0.55497	0.1924	L	0.27053	0.805	0.22933	N	0.998544	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34477	-0.9827	10	0.23302	T	0.38	-0.1102	5.0746	0.14625	0.0:0.4881:0.3289:0.1831	.	96;96	D3DTR7;O94989	.;ARHGF_HUMAN	R	96	ENSP00000355026:S96R;ENSP00000412505:S96R	ENSP00000355026:S96R	S	+	3	2	ARHGEF15	8156370	0.031000	0.19500	0.992000	0.48379	0.858000	0.48976	-0.045000	0.12003	0.699000	0.31761	0.555000	0.69702	AGC	ARHGEF15	-	NULL	ENSG00000198844		0.677	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	142	0.00	0	C	NM_173728		8215645	8215645	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	missense	97	19.83	24	SNP	0.967	G
C10orf71	118461	genome.wustl.edu	37	10	50533921	50533921	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr10:50533921G>A	ENST00000374144.3	+	3	3619	c.3331G>A	c.(3331-3333)Gag>Aag	p.E1111K	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1111										endometrium(1)	1						CACCCGGAGGGAGGACCTGAC	0.657																																						dbGAP											0													17.0	22.0	21.0					10																	50533921		692	1590	2282	-	-	-	SO:0001583	missense	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3331G>A	10.37:g.50533921G>A	ENSP00000363259:p.Glu1111Lys		A0AVL8	Missense_Mutation	SNP	NULL	p.E1111K	ENST00000374144.3	37	c.3331	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305340	0.81247	.	.	ENSG00000177354	ENST00000374144	T	0.09163	3.01	5.38	4.42	0.53409	.	0.000000	0.39544	N	0.001321	T	0.16171	0.0389	L	0.32530	0.975	0.80722	D	1	.	.	.	.	.	.	T	0.00860	-1.1537	8	0.72032	D	0.01	.	13.9068	0.63841	0.0:0.152:0.848:0.0	.	.	.	.	K	1111	ENSP00000363259:E1111K	ENSP00000363259:E1111K	E	+	1	0	C10orf71	50203927	1.000000	0.71417	0.998000	0.56505	0.643000	0.38383	4.188000	0.58351	2.535000	0.85469	0.491000	0.48974	GAG	C10orf71	-	NULL	ENSG00000177354		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	19	0.00	0	G	NM_199459		50533921	50533921	+1	no_errors	ENST00000374144	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.987	A
DCAF8L1	139425	genome.wustl.edu	37	X	27999024	27999024	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chrX:27999024A>T	ENST00000441525.1	-	1	542	c.428T>A	c.(427-429)aTt>aAt	p.I143N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	143										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTGAGGAAATCCACTCCTC	0.572																																						dbGAP											0													93.0	62.0	72.0					X																	27999024		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.428T>A	X.37:g.27999024A>T	ENSP00000405222:p.Ile143Asn		B3KXX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I143N	ENST00000441525.1	37	c.428	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559613	0.27827	.	.	ENSG00000226372	ENST00000441525	T	0.64618	-0.11	0.842	0.842	0.18927	.	0.567820	0.16667	N	0.204506	T	0.49677	0.1571	L	0.40543	1.245	0.28256	N	0.925047	B	0.27625	0.183	B	0.33392	0.163	T	0.48127	-0.9062	10	0.52906	T	0.07	-0.0621	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	143	A6NGE4	DC8L1_HUMAN	N	143	ENSP00000405222:I143N	ENSP00000405222:I143N	I	-	2	0	DCAF8L1	27908945	1.000000	0.71417	0.105000	0.21289	0.070000	0.16714	5.310000	0.65780	0.571000	0.29365	0.235000	0.17854	ATT	DCAF8L1	-	NULL	ENSG00000226372		0.572	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	120	0.00	0	A	XM_066690		27999024	27999024	-1	no_errors	ENST00000441525	ensembl	human	known	69_37n	missense	78	10.34	9	SNP	0.760	T
DNAH5	1767	genome.wustl.edu	37	5	13735415	13735415	+	Silent	SNP	C	C	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr5:13735415C>T	ENST00000265104.4	-	68	11690	c.11586G>A	c.(11584-11586)ccG>ccA	p.P3862P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3862					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTTGTAATCGGGCTCTTGA	0.408									Kartagener syndrome																													dbGAP											0													74.0	64.0	68.0					5																	13735415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11586G>A	5.37:g.13735415C>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.P3862	ENST00000265104.4	37	c.11586	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	142	0.00	0	C	NM_001369		13735415	13735415	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	154	10.92	19	SNP	0.317	T
EFCAB3	146779	genome.wustl.edu	37	17	60464771	60464771	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr17:60464771A>G	ENST00000305286.3	+	3	223	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	EFCAB3_ENST00000450662.2_Missense_Mutation_p.M101V	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGCTTCACAAATGGCAGGTAA	0.358																																						dbGAP											0													84.0	78.0	80.0					17																	60464771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.145A>G	17.37:g.60464771A>G	ENSP00000302649:p.Met49Val		J3KQM8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.M101V	ENST00000305286.3	37	c.301	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	A	2.249	-0.372077	0.05034	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.56611	3.02;0.45;0.46;0.47	4.71	-0.656	0.11436	EF-hand-like domain (1);	1.461700	0.03668	N	0.243488	T	0.30039	0.0752	N	0.08118	0	0.22435	N	0.999109	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13308	-1.0514	10	0.18710	T	0.47	.	6.2494	0.20837	0.3817:0.5201:0.0982:0.0	.	49;49	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	V	101;49;49;49	ENSP00000403932:M101V;ENSP00000302649:M49V;ENSP00000429124:M49V;ENSP00000428626:M49V	ENSP00000302649:M49V	M	+	1	0	EFCAB3	57818503	0.999000	0.42202	0.891000	0.34965	0.514000	0.34195	0.467000	0.22035	0.041000	0.15688	0.455000	0.32223	ATG	EFCAB3	-	NULL	ENSG00000172421		0.358	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	165	0.00	0	A	NM_173503		60464771	60464771	+1	no_errors	ENST00000450662	ensembl	human	known	69_37n	missense	169	20.28	43	SNP	0.912	G
FLG	2312	genome.wustl.edu	37	1	152282321	152282321	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr1:152282321G>A	ENST00000368799.1	-	3	5076	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1681	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGGATCCATGTCTTTCTCCT	0.562									Ichthyosis																													dbGAP											0													316.0	316.0	316.0					1																	152282321		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5041C>T	1.37:g.152282321G>A	ENSP00000357789:p.His1681Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.H1681Y	ENST00000368799.1	37	c.5041	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240991	0.22711	.	.	ENSG00000143631	ENST00000368799	T	0.05996	3.36	3.44	3.44	0.39384	.	.	.	.	.	T	0.11879	0.0289	M	0.71581	2.175	0.09310	N	1	P	0.49559	0.925	D	0.67900	0.954	T	0.02758	-1.1114	9	0.59425	D	0.04	.	10.5887	0.45298	0.0:0.0:1.0:0.0	.	1681	P20930	FILA_HUMAN	Y	1681	ENSP00000357789:H1681Y	ENSP00000357789:H1681Y	H	-	1	0	FLG	150548945	0.005000	0.15991	0.004000	0.12327	0.013000	0.08279	1.265000	0.33027	1.935000	0.56089	0.306000	0.20318	CAT	FLG	-	pfam_Filaggrin	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	293	0.00	0	G	NM_002016		152282321	152282321	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	298	10.71	36	SNP	0.007	A
HERC2	8924	genome.wustl.edu	37	15	28493757	28493757	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr15:28493757C>T	ENST00000261609.7	-	21	3284	c.3176G>A	c.(3175-3177)cGt>cAt	p.R1059H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R1059H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATAAGCAAACGTTGAAAACG	0.383																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											103.0	95.0	97.0					15																	28493757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3176G>A	15.37:g.28493757C>T	ENSP00000261609:p.Arg1059His			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R1059H	ENST00000261609.7	37	c.3176	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905641	0.72868	.	.	ENSG00000128731	ENST00000261609	T	0.60672	0.17	5.08	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.72353	2.195	0.58432	D	0.999998	B	0.15473	0.013	B	0.08055	0.003	T	0.60094	-0.7330	10	0.87932	D	0	.	13.8853	0.63704	0.0:0.9259:0.0:0.0741	.	1059	O95714	HERC2_HUMAN	H	1059	ENSP00000261609:R1059H	ENSP00000261609:R1059H	R	-	2	0	HERC2	26167352	1.000000	0.71417	0.928000	0.36995	0.422000	0.31414	7.432000	0.80349	1.281000	0.44480	0.467000	0.42956	CGT	HERC2	-	NULL	ENSG00000128731		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	241	0.00	0	C	NM_004667		28493757	28493757	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	243	17.06	50	SNP	1.000	T
HSP90AB1	3326	genome.wustl.edu	37	6	44219919	44219921	+	In_Frame_Del	DEL	AGA	AGA	-	rs146175316|rs139414975		TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr6:44219919_44219921delAGA	ENST00000371554.1	+	10	1860_1862	c.1646_1648delAGA	c.(1645-1650)gagaag>gag	p.K552del	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_In_Frame_Del_p.K552del|HSP90AB1_ENST00000371646.5_In_Frame_Del_p.K552del			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	552					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATGAGGAGGAGAAGAAGAAGAT	0.488																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1646_1648delAGA	6.37:g.44219928_44219930delAGA	ENSP00000360609:p.Lys552del		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	In_Frame_Del	DEL	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.K552in_frame_del	ENST00000371554.1	37	c.1646_1648	CCDS4909.1	6																																																																																			HSP90AB1	-	pfam_Hsp90,pirsf_Hsp90	ENSG00000096384		0.488	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	103	0.00	0	AGA	NM_007355		44219919	44219921	+1	no_errors	ENST00000353801	ensembl	human	known	69_37n	in_frame_del	98	11.71	13	DEL	1.000:1.000:1.000	-
KCNQ2	3785	genome.wustl.edu	37	20	62065186	62065186	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr20:62065186C>T	ENST00000359125.2	-	8	1268	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	KCNQ2_ENST00000357249.2_Missense_Mutation_p.R365Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R365Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R365Q|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R365Q|KCNQ2_ENST00000344425.5_Missense_Mutation_p.R365Q|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R365Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R365Q	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	365					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)			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)	GGTGACCGTTCGCTCGTAGTA	0.547																																						dbGAP											0													134.0	113.0	120.0					20																	62065186		2203	4300	6503	-	-	-	SO:0001583	missense	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.1094G>A	20.37:g.62065186C>T	ENSP00000352035:p.Arg365Gln		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R365Q	ENST00000359125.2	37	c.1094	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566618	0.65651	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99176	-5.23;-5.38;-5.4;-5.13;-5.36;-5.25;-5.23;-5.3;-5.14;-5.27;-5.52;-5.16	4.93	3.99	0.46301	.	0.270352	0.28940	N	0.013641	D	0.96460	0.8845	L	0.38175	1.15	0.42102	D	0.99134	B;B;P;B;P;B	0.37352	0.04;0.219;0.591;0.448;0.591;0.32	B;B;B;B;B;B	0.29785	0.014;0.016;0.107;0.107;0.107;0.05	D	0.95519	0.8593	10	0.46703	T	0.11	-34.9996	13.2082	0.59809	0.0:0.9225:0.0:0.0775	.	365;365;365;365;365;365	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	Q	365	ENSP00000349789:R365Q;ENSP00000352035:R365Q;ENSP00000359246:R365Q;ENSP00000346601:R365Q;ENSP00000352718:R365Q;ENSP00000399612:R365Q;ENSP00000353668:R365Q;ENSP00000339611:R365Q;ENSP00000359244:R365Q;ENSP00000359242:R365Q;ENSP00000359241:R365Q;ENSP00000345523:R365Q	ENSP00000345523:R365Q	R	-	2	0	KCNQ2	61535630	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	2.628000	0.46477	1.089000	0.41292	0.655000	0.94253	CGA	KCNQ2	-	NULL	ENSG00000075043		0.547	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	103	0.00	0	C	NM_172109		62065186	62065186	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	T
MIB1	57534	genome.wustl.edu	37	18	19371349	19371349	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr18:19371349C>T	ENST00000261537.6	+	7	1187	c.923C>T	c.(922-924)cCt>cTt	p.P308L	MIB1_ENST00000578646.1_3'UTR|RN7SL233P_ENST00000469988.2_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	308					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ACCTTCAATCCTGCTGTTCTC	0.418																																						dbGAP											0													97.0	87.0	91.0					18																	19371349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.923C>T	18.37:g.19371349C>T	ENSP00000261537:p.Pro308Leu		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ	p.P308L	ENST00000261537.6	37	c.923	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466193	0.84425	.	.	ENSG00000101752	ENST00000261537	T	0.41758	0.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.81802	2.56	0.80722	D	1	D	0.54601	0.967	D	0.64595	0.927	T	0.69510	-0.5126	10	0.87932	D	0	-17.7919	20.6525	0.99598	0.0:1.0:0.0:0.0	.	308	Q86YT6	MIB1_HUMAN	L	308	ENSP00000261537:P308L	ENSP00000261537:P308L	P	+	2	0	MIB1	17625347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.805000	0.86005	2.890000	0.99128	0.585000	0.79938	CCT	MIB1	-	NULL	ENSG00000101752		0.418	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	130	0.00	0	C	NM_020774		19371349	19371349	+1	no_errors	ENST00000261537	ensembl	human	known	69_37n	missense	120	14.89	21	SNP	1.000	T
VGLL1	51442	genome.wustl.edu	37	X	135633088	135633088	+	Intron	SNP	A	A	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chrX:135633088A>T	ENST00000370634.3	+	4	858				MIR934_ENST00000401241.1_RNA|VGLL1_ENST00000470358.1_Intron	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TAAAACCCAGAGTCTCCAGTA	0.408																																						dbGAP											0													77.0	64.0	68.0					X																	135633088		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.688+108A>T	X.37:g.135633088A>T			Q5H915	RNA	SNP	-	NULL	ENST00000370634.3	37	NULL	CCDS14658.1	X																																																																																			MIR934	-	-	ENSG00000216060		0.408	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR934	HGNC	protein_coding	OTTHUMT00000058493.1	209	0.00	0	A	NM_016267		135633088	135633088	+1	no_errors	ENST00000401241	ensembl	human	known	69_37n	rna	233	18.53	53	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100639210	100639211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr7:100639210_100639211insA	ENST00000379442.3	+	5	5795_5796	c.5795_5796insA	c.(5794-5799)acagctfs	p.A1933fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.A1790fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1933	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAAAGCTCCACAGCTTCAGGTC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.5796dupA	7.37:g.100639211_100639211dupA	ENSP00000368755:p.Ala1933fs		A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.A1933fs	ENST00000379442.3	37	c.5795_5796		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.525	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	45	0.00	0	-	XM_379904		100639210	100639211	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	19	17.39	4	INS	0.000:0.000	A
NOMO1	23420	genome.wustl.edu	37	16	14951376	14951376	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr16:14951376G>A	ENST00000287667.7	+	11	1255	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	362						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AACAAAAGCTGATGGCTCATT	0.408																																						dbGAP											0													29.0	28.0	29.0					16																	14951376		2193	4279	6472	-	-	-	SO:0001583	missense	0			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1084G>A	16.37:g.14951376G>A	ENSP00000287667:p.Asp362Asn		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.D362N	ENST00000287667.7	37	c.1084	CCDS10556.1	16	.	.	.	.	.	.	.	.	.	.	.	16.05	3.014129	0.54468	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.45668	0.89	3.31	3.31	0.37934	Carboxypeptidase-like, regulatory domain (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.142682	0.47852	D	0.000215	T	0.50051	0.1593	L	0.49778	1.585	0.80722	D	1	D	0.67145	0.996	D	0.64144	0.922	T	0.41342	-0.9514	10	0.12103	T	0.63	-6.1104	12.5207	0.56058	0.0:0.0:1.0:0.0	.	362	Q15155	NOMO1_HUMAN	N	362;362;195	ENSP00000287667:D362N	ENSP00000287667:D362N	D	+	1	0	NOMO1	14858877	1.000000	0.71417	0.946000	0.38457	0.881000	0.50899	9.040000	0.93783	1.832000	0.53329	0.398000	0.26397	GAT	NOMO1	-	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory	ENSG00000103512		0.408	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO1	HGNC	protein_coding	OTTHUMT00000207065.1	498	0.00	0	G			14951376	14951376	+1	no_errors	ENST00000287667	ensembl	human	known	69_37n	missense	384	11.72	51	SNP	0.999	A
P4HTM	54681	genome.wustl.edu	37	3	49038967	49038967	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr3:49038967A>C	ENST00000383729.4	+	3	904	c.533A>C	c.(532-534)gAg>gCg	p.E178A	P4HTM_ENST00000343546.4_Missense_Mutation_p.E178A	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	178						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTACTGAAGAGTATGAAGAG	0.567																																						dbGAP											0													64.0	56.0	59.0					3																	49038967		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.533A>C	3.37:g.49038967A>C	ENSP00000373235:p.Glu178Ala		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E178A	ENST00000383729.4	37	c.533	CCDS43089.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.67|16.67	3.186459|3.186459	0.57909|0.57909	.|.	.|.	ENSG00000178467|ENSG00000178467	ENST00000383729;ENST00000343546|ENST00000444213	T|.	0.77358|.	-1.09|.	5.93|5.93	5.93|5.93	0.95920|0.95920	EF-hand-like domain (1);Prolyl 4-hydroxylase, alpha subunit (1);|.	0.151386|.	0.64402|.	D|.	0.000013|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.34521|0.34521	1.04|1.04	0.46774|0.46774	D|D	0.999199|0.999199	P;P;B|.	0.46859|.	0.885;0.792;0.146|.	B;B;B|.	0.42495|.	0.389;0.269;0.038|.	T|T	0.51521|0.51521	-0.8695|-0.8695	10|5	0.52906|.	T|.	0.07|.	-32.2543|-32.2543	10.6796|10.6796	0.45807|0.45807	0.9291:0.0:0.0709:0.0|0.9291:0.0:0.0709:0.0	.|.	178;178;178|.	Q9NXG6-2;Q9NXG6-3;Q9NXG6|.	.;.;P4HTM_HUMAN|.	A|S	178|129	ENSP00000373235:E178A|.	ENSP00000341422:E178A|.	E|R	+|+	2|3	0|2	P4HTM|P4HTM	49013971|49013971	0.799000|0.799000	0.28903|0.28903	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.450000|1.450000	0.35134|0.35134	2.271000|2.271000	0.75665|0.75665	0.533000|0.533000	0.62120|0.62120	GAG|AGA	P4HTM	-	smart_Pro_4_hyd_alph	ENSG00000178467		0.567	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	41	0.00	0	A	NM_177938		49038967	49038967	+1	no_errors	ENST00000343546	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	C
PTEN	5728	genome.wustl.edu	37	10	89624254	89624254	+	Missense_Mutation	SNP	A	A	C	rs572685299		TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr10:89624254A>C	ENST00000371953.3	+	1	1385	c.28A>C	c.(28-30)Agc>Cgc	p.S10R	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	10			S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAGATCGTTAGCAGAAACAA	0.488		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Unknown(13)|Complex - compound substitution(1)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(1)											176.0	170.0	172.0					10																	89624254		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.28A>C	10.37:g.89624254A>C	ENSP00000361021:p.Ser10Arg		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S10R	ENST00000371953.3	37	c.28	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558542	0.86231	.	.	ENSG00000171862	ENST00000371953	D	0.96992	-4.2	4.73	4.73	0.59995	.	0.095667	0.64402	D	0.000001	D	0.96833	0.8966	M	0.93808	3.46	0.80722	D	1	B	0.32338	0.365	B	0.34722	0.188	D	0.96566	0.9419	9	.	.	.	-0.1047	13.2072	0.59805	1.0:0.0:0.0:0.0	.	10	P60484	PTEN_HUMAN	R	10	ENSP00000361021:S10R	.	S	+	1	0	PTEN	89614234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.354000	0.90080	1.754000	0.51921	0.459000	0.35465	AGC	PTEN	-	pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN	ENSG00000171862		0.488	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	316	0.00	0	A	NM_000314		89624254	89624254	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	249	17.55	53	SNP	1.000	C
PWP2	5822	genome.wustl.edu	37	21	45545915	45545915	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr21:45545915G>A	ENST00000291576.7	+	16	2116	c.1989G>A	c.(1987-1989)atG>atA	p.M663I	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	663					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAAGAAAAATGACAGAGTTTG	0.537																																						dbGAP											0													105.0	100.0	101.0					21																	45545915		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1989G>A	21.37:g.45545915G>A	ENSP00000291576:p.Met663Ile		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M663I	ENST00000291576.7	37	c.1989	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144875	0.57044	.	.	ENSG00000241945	ENST00000291576	T	0.42900	0.96	4.55	3.65	0.41850	Quinonprotein alcohol dehydrogenase-like (1);	0.038519	0.85682	D	0.000000	T	0.40423	0.1116	L	0.61036	1.89	0.51482	D	0.999927	B	0.14012	0.009	B	0.11329	0.006	T	0.38714	-0.9648	10	0.41790	T	0.15	-21.8022	13.2523	0.60057	0.0841:0.0:0.9159:0.0	.	663	Q15269	PWP2_HUMAN	I	663	ENSP00000291576:M663I	ENSP00000291576:M663I	M	+	3	0	PWP2	44370343	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.187000	0.72039	2.234000	0.73211	0.591000	0.81541	ATG	PWP2	-	superfamily_Quinonprotein_ADH-like	ENSG00000241945		0.537	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	118	0.00	0	G	NM_005049		45545915	45545915	+1	no_errors	ENST00000291576	ensembl	human	known	69_37n	missense	148	13.45	23	SNP	1.000	A
RBFOX1	54715	genome.wustl.edu	37	16	7383011	7383011	+	Intron	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr16:7383011G>A	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000355637.4_Silent_p.A3A|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.A3A|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.A3A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCATGCTGGCGTCTCAAGGAG	0.478																																					Ovarian(157;934 2567 15163 39509)	dbGAP											0													231.0	186.0	201.0					16																	7383011		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185138G>A	16.37:g.7383011G>A			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.A3	ENST00000550418.1	37	c.9	CCDS55983.1	16																																																																																			RBFOX1	-	NULL	ENSG00000078328		0.478	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	235	0.00	0	G	NM_145891		7383011	7383011	+1	no_errors	ENST00000311745	ensembl	human	known	69_37n	silent	274	13.29	42	SNP	1.000	A
SARM1	23098	genome.wustl.edu	37	17	26712099	26712099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr17:26712099delT	ENST00000457710.3	+	5	1804	c.1333delT	c.(1333-1335)tatfs	p.Y445fs	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	479	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTTCGCCAACTATTCTACGTG	0.662																																						dbGAP											0													32.0	36.0	35.0					17																	26712099		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1333delT	17.37:g.26712099delT	ENSP00000406738:p.Tyr445fs		O60277|Q7LGG3|Q9NXY5	Frame_Shift_Del	DEL	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.Y445fs	ENST00000457710.3	37	c.1333		17																																																																																			SARM1	-	superfamily_SAM/pointed,smart_SAM	ENSG00000004139		0.662	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	18	0.00	0	T	NM_015077		26712099	26712099	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	frame_shift_del	14	22.22	4	DEL	1.000	-
SARM1	23098	genome.wustl.edu	37	17	26712101	26712101	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr17:26712101delT	ENST00000457710.3	+	5	1806	c.1335delT	c.(1333-1335)tatfs	p.Y445fs	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	479	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCGCCAACTATTCTACGTGCG	0.657																																						dbGAP											0													32.0	36.0	35.0					17																	26712101		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1335delT	17.37:g.26712101delT	ENSP00000406738:p.Tyr445fs		O60277|Q7LGG3|Q9NXY5	Frame_Shift_Del	DEL	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.S446fs	ENST00000457710.3	37	c.1335		17																																																																																			SARM1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000004139		0.657	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	18	0.00	0	T	NM_015077		26712101	26712101	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	frame_shift_del	15	21.05	4	DEL	0.991	-
SDCCAG3	10807	genome.wustl.edu	37	9	139301619	139301619	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr9:139301619G>C	ENST00000357365.3	-	5	926	c.797C>G	c.(796-798)aCg>aGg	p.T266R	SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.T193R|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.T243R	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	266						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TATCTGCAGCGTCCGCAGGTG	0.622																																						dbGAP											0													34.0	36.0	35.0					9																	139301619		2011	4164	6175	-	-	-	SO:0001583	missense	0			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.797C>G	9.37:g.139301619G>C	ENSP00000349929:p.Thr266Arg		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.T266R	ENST00000357365.3	37	c.797	CCDS43904.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882837|3.882837	0.72410|0.72410	.|.	.|.	ENSG00000165689|ENSG00000165689	ENST00000417512|ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	.|T;T;T;T	.|0.33865	.|2.38;2.46;2.45;1.39	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.351137	.|0.29493	.|N	.|0.011990	T|T	0.47581|0.47581	0.1453|0.1453	L|L	0.60455|0.60455	1.87|1.87	0.38796|0.38796	D|D	0.95509|0.95509	.|D;D;D	.|0.71674	.|0.973;0.988;0.998	.|P;P;P	.|0.60068	.|0.789;0.789;0.868	T|T	0.40079|0.40079	-0.9582|-0.9582	5|10	.|0.22706	.|T	.|0.39	-9.7255|-9.7255	10.1692|10.1692	0.42900|0.42900	0.0908:0.0:0.9092:0.0|0.0908:0.0:0.9092:0.0	.|.	.|193;243;266	.|Q96C92-4;Q96C92-2;Q96C92	.|.;.;SDCG3_HUMAN	G|R	7|266;243;193;216	.|ENSP00000349929:T266R;ENSP00000298537:T243R;ENSP00000360790:T193R;ENSP00000360788:T216R	.|ENSP00000298537:T243R	R|T	-|-	1|2	0|0	SDCCAG3|SDCCAG3	138421440|138421440	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	3.653000|3.653000	0.54446|0.54446	2.521000|2.521000	0.84997|0.84997	0.655000|0.655000	0.94253|0.94253	CGC|ACG	SDCCAG3	-	NULL	ENSG00000165689		0.622	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	35	0.00	0	G	NM_006643		139301619	139301619	-1	no_errors	ENST00000357365	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	C
TCF7	6932	genome.wustl.edu	37	5	133478723	133478723	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr5:133478723G>A	ENST00000321584.4	+	8	1154	c.958G>A	c.(958-960)Gag>Aag	p.E320K	TCF7_ENST00000395029.1_Missense_Mutation_p.E320K|TCF7_ENST00000378564.1_Missense_Mutation_p.E320K|TCF7_ENST00000518915.1_Missense_Mutation_p.E205K|TCF7_ENST00000432532.2_Missense_Mutation_p.E205K|TCF7_ENST00000520958.1_Missense_Mutation_p.E205K|TCF7_ENST00000342854.5_Missense_Mutation_p.E320K|TCF7_ENST00000378560.4_Missense_Mutation_p.E205K|TCF7_ENST00000395023.1_Missense_Mutation_p.E205K|TCF7_ENST00000321603.6_Missense_Mutation_p.E320K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	320					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGTACTATGAGCTGGCCCG	0.632																																						dbGAP											0													34.0	31.0	32.0					5																	133478723		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.958G>A	5.37:g.133478723G>A	ENSP00000326540:p.Glu320Lys		B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E320K	ENST00000321584.4	37	c.958		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.999886|5.999886	0.97189|0.97189	.|.	.|.	ENSG00000081059|ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000517799|ENST00000520699	D;D;D;D;D;D;D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68|.	5.69|5.69	5.69|5.69	0.88448|0.88448	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71108|0.71108	0.3301|0.3301	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	P;D;D;B;D;D|.	0.76494|.	0.616;0.996;0.999;0.276;0.999;0.998|.	P;D;D;B;D;D|.	0.91635|.	0.809;0.987;0.999;0.1;0.996;0.991|.	T|T	0.66352|0.66352	-0.5945|-0.5945	10|5	0.87932|.	D|.	0|.	.|.	19.8047|19.8047	0.96525|0.96525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	134;320;320;118;320;320|.	B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.;.;.;.;TCF7_HUMAN;.|.	K|I	320;320;320;320;320;320;205;205;205;205;205;98|44	ENSP00000340347:E320K;ENSP00000326654:E320K;ENSP00000326540:E320K;ENSP00000367827:E320K;ENSP00000378472:E320K;ENSP00000367822:E205K;ENSP00000397946:E205K;ENSP00000429547:E205K;ENSP00000430179:E205K;ENSP00000378469:E205K;ENSP00000427968:E98K|.	ENSP00000326540:E320K|.	E|M	+|+	1|3	0|0	TCF7|TCF7	133506622|133506622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.692000|2.692000	0.91855|0.91855	0.563000|0.563000	0.77884|0.77884	GAG|ATG	TCF7	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000081059		0.632	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		59	0.00	0	G	NM_201634		133478723	133478723	+1	no_errors	ENST00000321584	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	176	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	127	20.13	32	SNP	0.864	T
WT1	7490	genome.wustl.edu	37	11	32450119	32450119	+	Silent	SNP	C	C	T			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr11:32450119C>T	ENST00000379079.2	-	2	330	c.57G>A	c.(55-57)acG>acA	p.T19T	WT1_ENST00000530998.1_Silent_p.T19T|WT1_ENST00000332351.3_Silent_p.T231T|WT1_ENST00000448076.3_Silent_p.T231T	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	163					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGTGCGAGGGCGTGTGACCGT	0.647			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	1	Unknown(1)	kidney(1)											98.0	72.0	81.0					11																	32450119		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.57G>A	11.37:g.32450119C>T			A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,prints_Wilms_tumour,pfscan_Znf_C2H2	p.T231	ENST00000379079.2	37	c.693	CCDS55751.1	11																																																																																			WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.647	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095434.1	67	0.00	0	C	NM_000378		32450119	32450119	-1	no_errors	ENST00000332351	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.998	T
WWC2	80014	genome.wustl.edu	37	4	184182178	184182178	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr4:184182178G>A	ENST00000403733.3	+	11	1601	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	WWC2_ENST00000448232.2_Missense_Mutation_p.E468K|WWC2_ENST00000378925.3_Missense_Mutation_p.E370K|WWC2_ENST00000513834.1_Missense_Mutation_p.E468K|WWC2_ENST00000504005.1_Missense_Mutation_p.E150K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	468	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTTCCACCGAACTCTATTA	0.507																																						dbGAP											0													74.0	72.0	72.0					4																	184182178		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1402G>A	4.37:g.184182178G>A	ENSP00000384222:p.Glu468Lys		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E468K	ENST00000403733.3	37	c.1402	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211790	0.58452	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.86	4.86	0.63082	.	0.259032	0.33092	N	0.005288	T	0.39627	0.1085	L	0.51422	1.61	0.43890	D	0.996514	B;P	0.47191	0.423;0.891	B;B	0.38156	0.048;0.266	T	0.46541	-0.9184	10	0.56958	D	0.05	-14.0168	18.1856	0.89791	0.0:0.0:1.0:0.0	.	468;468	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	K	468;370;468;468;150	ENSP00000384222:E468K;ENSP00000368205:E370K;ENSP00000425054:E468K;ENSP00000398577:E468K;ENSP00000427569:E150K	ENSP00000368205:E370K	E	+	1	0	WWC2	184419172	1.000000	0.71417	0.894000	0.35097	0.074000	0.17049	9.612000	0.98347	2.528000	0.85240	0.650000	0.86243	GAA	WWC2	-	NULL	ENSG00000151718		0.507	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	153	0.00	0	G	NM_024949		184182178	184182178	+1	no_errors	ENST00000448232	ensembl	human	known	69_37n	missense	116	18.31	26	SNP	1.000	A
ZNF724P	440519	genome.wustl.edu	37	19	23406559	23406559	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AJ-01A-21D-A12Q-09	TCGA-AR-A1AJ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4e1f9084-4729-4b3f-b036-6226d64fd25b	63ee3781-4578-4d19-88e4-c8785fc7987e	g.chr19:23406559T>C	ENST00000418100.1	-	4	605	c.488A>G	c.(487-489)cAt>cGt	p.H163R				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TTCAGTCTTATGTCTATTTGA	0.299																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.488A>G	19.37:g.23406559T>C	ENSP00000413411:p.His163Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H163R	ENST00000418100.1	37	c.488		19	.	.	.	.	.	.	.	.	.	.	T	5.894	0.348968	0.11182	.	.	ENSG00000196081	ENST00000418100	T	0.35973	1.28	1.09	1.09	0.20402	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	0.999995	B	0.28400	0.21	B	0.28232	0.087	T	0.20140	-1.0284	8	0.42905	T	0.14	.	5.9346	0.19158	0.0:0.0:0.0:1.0	.	163	A8MTY0	ZN724_HUMAN	R	163	ENSP00000413411:H163R	ENSP00000413411:H163R	H	-	2	0	ZNF724P	23198399	0.129000	0.22400	0.307000	0.25127	0.298000	0.27526	1.090000	0.30902	0.413000	0.25759	0.402000	0.26972	CAT	ZNF724P	-	NULL	ENSG00000196081		0.299	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	ZNF724P	HGNC	protein_coding	OTTHUMT00000465743.1	185	0.00	0	T			23406559	23406559	-1	no_errors	ENST00000418100	ensembl	human	known	69_37n	missense	161	21.36	44	SNP	0.291	C
