#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
ZNF503	84858	genome.wustl.edu	37	10	77158854	77158854	+	Missense_Mutation	SNP	A	A	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr10:77158854A>T	ENST00000372524.4	-	2	2080	c.1594T>A	c.(1594-1596)Tcc>Acc	p.S532T	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.S532T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	532					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGCTCTTCGGACGTGGCGAAG	0.642													ENSG00000165655																																					0													32.0	30.0	31.0					10																	77158854		2203	4300	6503	SO:0001583	missense	0			-	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1594T>A	10.37:g.77158854A>T	ENSP00000361602:p.Ser532Thr		Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.S532T	ENST00000372524.4	37	c.1594	CCDS7350.1	10	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862937	0.71949	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.70749	-0.51;-0.51	4.23	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.82392	-0.0480	10	0.87932	D	0	-19.4971	13.5198	0.61561	1.0:0.0:0.0:0.0	.	532	Q96F45	ZN503_HUMAN	T	532;532;495	ENSP00000361602:S532T;ENSP00000438988:S532T	ENSP00000361594:S495T	S	-	1	0	ZNF503	76828860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.023000	0.93683	1.777000	0.52277	0.523000	0.50628	TCC	-	ZNF503	-	pfscan_Znf_C2H2		0.642	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	HGNC	protein_coding	OTTHUMT00000048826.1	0	0	0	12	12	24	0.00	0.00	A	NM_032772		77158854	-1	9	8	12	31	tier1	no_errors	ENST00000372524	ensembl	human	known	74_37	missense	42.86	20.51	SNP	1.000	T	9	12
TXK	7294	genome.wustl.edu	37	4	48097218	48097218	+	Missense_Mutation	SNP	C	C	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:48097218C>A	ENST00000264316.4	-	7	608	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	175	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GAATCTCTGACAATAAATGCA	0.338													ENSG00000074966																																					0													115.0	111.0	112.0					4																	48097218		2203	4300	6503	SO:0001583	missense	0			-	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.523G>T	4.37:g.48097218C>A	ENSP00000264316:p.Val175Phe		Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V175F	ENST00000264316.4	37	c.523	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814437	0.90790	.	.	ENSG00000074966	ENST00000264316	D	0.95980	-3.87	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.64402	D	0.000004	D	0.98403	0.9469	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99331	1.0909	10	0.87932	D	0	.	17.965	0.89098	0.0:1.0:0.0:0.0	.	175	P42681	TXK_HUMAN	F	175	ENSP00000264316:V175F	ENSP00000264316:V175F	V	-	1	0	TXK	47791975	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.405000	0.52630	2.725000	0.93324	0.585000	0.79938	GTC	-	TXK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.338	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	0	0	0	62	62	88	0.00	0.00	C	NM_003328		48097218	-1	22	42	61	68	tier1	no_errors	ENST00000264316	ensembl	human	known	74_37	missense	26.51	38.18	SNP	1.000	A	22	61
DPH2	1802	genome.wustl.edu	37	1	44436462	44436462	+	Intron	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:44436462A>G	ENST00000255108.3	+	2	432				DPH2_ENST00000529729.1_Intron|DPH2_ENST00000412950.2_Intron|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ATTGCCTTCAATGGTGGTGTT	0.478													ENSG00000132768																																					0																																										SO:0001627	intron_variant	0			-	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.260+82A>G	1.37:g.44436462A>G			A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	NULL	p.N97S	ENST00000255108.3	37	c.290	CCDS504.1	1																																																																																			-	DPH2	-	NULL		0.478	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	0	0	0	15	15	88	0.00	0.00	A	NM_001384		44436462	+1	4	35	7	53	tier1	no_errors	ENST00000476260	ensembl	human	known	74_37	missense	36.36	39.77	SNP	0.000	G	4	7
TGS1	96764	genome.wustl.edu	37	8	56737232	56737232	+	Silent	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:56737232C>T	ENST00000260129.5	+	13	3009	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	844	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTTTGGTGACCTAATTCGAA	0.428													ENSG00000137574																									Esophageal Squamous(34;275 823 4842 34837 48447)												0													124.0	107.0	113.0					8																	56737232		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2532C>T	8.37:g.56737232C>T			A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	pfam_R_cap_Gua-N2-MeTrfase,pfam_R_methylase_dom,pfam_tR_Trfase_Trm5/Tyw2	p.D844	ENST00000260129.5	37	c.2532	CCDS34894.1	8																																																																																			-	TGS1	-	pfam_R_cap_Gua-N2-MeTrfase		0.428	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	0	0	0	106	106	129	0.00	0.00	C	NM_024831		56737232	+1	39	37	48	48	tier1	no_errors	ENST00000260129	ensembl	human	known	74_37	silent	44.83	43.53	SNP	1.000	T	39	48
KRT5	3852	genome.wustl.edu	37	12	52910467	52910467	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:52910467C>T	ENST00000252242.4	-	7	1783	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	465	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGATCTCCACGTCCAGGGCC	0.602													ENSG00000186081																																					0													131.0	116.0	121.0					12																	52910467		2203	4300	6503	SO:0001583	missense	0			-		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1393G>A	12.37:g.52910467C>T	ENSP00000252242:p.Val465Met		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.V465M	ENST00000252242.4	37	c.1393	CCDS8830.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.957592|2.957592	0.53400|0.53400	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000548409|ENST00000252242;ENST00000456000	.|D	.|0.86230	.|-2.09	5.93|5.93	3.86|3.86	0.44501|0.44501	.|Filament (1);	.|0.157818	.|0.30969	.|N	.|0.008512	D|D	0.83778|0.83778	0.5328|0.5328	L|L	0.48986|0.48986	1.54|1.54	0.41772|0.41772	D|D	0.989772|0.989772	.|P	.|0.52170	.|0.951	.|P	.|0.49683	.|0.619	T|T	0.80286|0.80286	-0.1446|-0.1446	5|10	.|0.27785	.|T	.|0.31	.|.	4.5599|4.5599	0.12154|0.12154	0.0:0.5754:0.0:0.4246|0.0:0.5754:0.0:0.4246	.|.	.|465	.|P13647	.|K2C5_HUMAN	H|M	172|465;430	.|ENSP00000252242:V465M	.|ENSP00000252242:V465M	R|V	-|-	2|1	0|0	KRT5|KRT5	51196734|51196734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.413000|3.413000	0.52686|0.52686	1.482000|1.482000	0.48325|0.48325	0.655000|0.655000	0.94253|0.94253	CGT|GTG	-	KRT5	-	pfam_IF		0.602	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	0	0	0	39	39	4	0.00	0.00	C			52910467	-1	6	3	33	10	tier1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	15.38	23.08	SNP	1.000	T	6	33
SPTB	6710	genome.wustl.edu	37	14	65268039	65268039	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr14:65268039G>A	ENST00000389721.5	-	6	759	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	SPTB_ENST00000389722.3_Missense_Mutation_p.R243C|SPTB_ENST00000389720.3_Missense_Mutation_p.R243C|SPTB_ENST00000556626.1_Missense_Mutation_p.R243C|SPTB_ENST00000542895.1_Missense_Mutation_p.R243C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	243	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R243C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCTGGCGCTCAGCCACA	0.607											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000070182																																					1	Substitution - Missense(1)	central_nervous_system(1)											81.0	62.0	69.0					14																	65268039		2203	4300	6503	SO:0001583	missense	0			-		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.727C>T	14.37:g.65268039G>A	ENSP00000374371:p.Arg243Cys	1082	Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R243C	ENST00000389721.5	37	c.727	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852094	0.71719	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.3	0.37823	Calponin homology domain (5);	0.187852	0.44483	D	0.000444	T	0.69378	0.3104	M	0.85299	2.745	0.43824	D	0.996394	D;D	0.60160	0.974;0.987	P;P	0.51170	0.661;0.653	T	0.77611	-0.2523	10	0.87932	D	0	.	13.9403	0.64050	0.0:0.0:0.6869:0.3131	.	243;247	P11277;Q59FP5	SPTB1_HUMAN;.	C	247;243;243;243;243;243	ENSP00000374372:R243C;ENSP00000451752:R243C;ENSP00000374371:R243C;ENSP00000443882:R243C;ENSP00000374370:R243C	ENSP00000374370:R243C	R	-	1	0	SPTB	64337792	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	3.169000	0.50809	1.221000	0.43506	0.460000	0.39030	CGC	-	SPTB	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	0	0	0	33	33	29	0.00	0.00	G			65268039	-1	8	9	19	10	tier1	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	29.63	47.37	SNP	1.000	A	8	19
CACHD1	57685	genome.wustl.edu	37	1	65157848	65157848	+	3'UTR	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:65157848A>G	ENST00000371073.2	+	0	4429				CACHD1_ENST00000290039.5_3'UTR|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1						calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAAACACAGGAGAAGTTTTCA	0.368													ENSG00000158966																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.*604A>G	1.37:g.65157848A>G			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	R	SNP	-	NULL	ENST00000371073.2	37	NULL		1																																																																																			-	CACHD1	-	-		0.368	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		0	0	0	48	48	124	0.00	0.00	A	NM_020925		65157848	+1	17	32	28	78	tier1	no_errors	ENST00000470527	ensembl	human	known	74_37	rna	37.78	29.09	SNP	0.001	G	17	28
MYBL1	4603	genome.wustl.edu	37	8	67511292	67511292	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:67511292T>C	ENST00000522677.3	-	4	694	c.284A>G	c.(283-285)gAt>gGt	p.D95G	MYBL1_ENST00000524176.2_Missense_Mutation_p.D95G|MYBL1_ENST00000517885.1_Missense_Mutation_p.D95G	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	95	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCCTCTGATCTTCTTCTTT	0.328													ENSG00000185697																																					0													73.0	70.0	71.0					8																	67511292		1903	4165	6068	SO:0001583	missense	0			-	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.284A>G	8.37:g.67511292T>C	ENSP00000429633:p.Asp95Gly		E7EW29|Q495F9	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D95G	ENST00000522677.3	37	c.284	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864811	0.91511	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.50277	1.17;1.6;0.75	5.54	5.54	0.83059	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	H	0.99764	4.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90986	0.4831	10	0.87932	D	0	-16.394	15.6764	0.77326	0.0:0.0:0.0:1.0	.	95;95;95	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	G	95	ENSP00000429633:D95G;ENSP00000428265:D95G;ENSP00000428011:D95G	ENSP00000428265:D95G	D	-	2	0	MYBL1	67673846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.106000	0.64143	0.528000	0.53228	GAT	-	MYBL1	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.328	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	HGNC	protein_coding	OTTHUMT00000379221.3	0	0	0	70	70	87	0.00	0.00	T	XM_034274		67511292	-1	21	23	41	39	tier1	no_errors	ENST00000522677	ensembl	human	known	74_37	missense	33.87	37.10	SNP	1.000	C	21	41
TAF1L	138474	genome.wustl.edu	37	9	32635503	32635503	+	Silent	SNP	G	G	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:32635503G>A	ENST00000242310.4	-	1	164	c.75C>T	c.(73-75)agC>agT	p.S25S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	25					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATCTTCCTCGCTGTCCGAGT	0.562													ENSG00000122728																																					0													78.0	73.0	74.0					9																	32635503		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.75C>T	9.37:g.32635503G>A			Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S25	ENST00000242310.4	37	c.75	CCDS35003.1	9																																																																																			-	TAF1L	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd		0.562	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	0	0	0	73	73	62	0.00	0.00	G			32635503	-1	18	29	73	67	tier1	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	19.78	30.21	SNP	1.000	A	18	73
ME3	10873	genome.wustl.edu	37	11	86160930	86160930	+	Splice_Site	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:86160930C>T	ENST00000393324.3	-	9	1385		c.e9+1		ME3_ENST00000543262.1_Splice_Site|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Splice_Site	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial						aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				ACTGACAGTACCTTGACAATG	0.507													ENSG00000151376																																					0													165.0	154.0	158.0					11																	86160930		2202	4299	6501	SO:0001630	splice_region_variant	0			-	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1131+1G>A	11.37:g.86160930C>T			B7Z6V0|Q8TBJ0	Splice_Site	SNP	-	e9+1	ENST00000393324.3	37	c.1131+1	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470689	0.84533	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	.	.	.	5.7	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4023	0.67056	0.0:0.9294:0.0:0.0706	.	.	.	.	.	-1	.	.	.	-	.	.	ME3	85838578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.707000	0.84623	1.416000	0.47057	0.650000	0.86243	.	-	ME3	-	-		0.507	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	HGNC	protein_coding	OTTHUMT00000393767.2	0	0	0	34	34	128	0.00	0.00	C		Intron	86160930	-1	13	29	17	34	tier1	no_errors	ENST00000359636	ensembl	human	known	74_37	splice_site	43.33	46.03	SNP	1.000	T	13	17
FBXO4	26272	genome.wustl.edu	37	5	41929978	41929978	+	Missense_Mutation	SNP	A	A	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:41929978A>C	ENST00000281623.3	+	3	661	c.605A>C	c.(604-606)gAa>gCa	p.E202A	FBXO4_ENST00000296812.2_Missense_Mutation_p.E202A|FBXO4_ENST00000509134.1_Missense_Mutation_p.E202A	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	202					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTCAGAGGAACTTTGCCCA	0.398													ENSG00000151876																																					0													249.0	232.0	238.0					5																	41929978		2203	4300	6503	SO:0001583	missense	0			-	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.605A>C	5.37:g.41929978A>C	ENSP00000281623:p.Glu202Ala		Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.E202A	ENST00000281623.3	37	c.605	CCDS3938.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692945	0.88735	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	.	.	.	5.76	5.76	0.90799	.	0.095877	0.64402	D	0.000001	T	0.61813	0.2377	L	0.54323	1.7	0.80722	D	1	P;P;P	0.45348	0.682;0.856;0.787	B;B;P	0.46758	0.326;0.322;0.526	T	0.65664	-0.6113	9	0.66056	D	0.02	-12.3463	16.0663	0.80878	1.0:0.0:0.0:0.0	.	202;202;202	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	A	202	.	ENSP00000281623:E202A	E	+	2	0	FBXO4	41965735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.554000	0.53720	2.196000	0.70406	0.533000	0.62120	GAA	-	FBXO4	-	NULL		0.398	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	HGNC	protein_coding	OTTHUMT00000211614.1	0	0	0	79	79	108	0.00	0.00	A			41929978	+1	32	39	64	75	tier1	no_errors	ENST00000281623	ensembl	human	known	74_37	missense	33.33	34.21	SNP	1.000	C	32	64
RAD50	10111	genome.wustl.edu	37	5	131927091	131927091	+	Missense_Mutation	SNP	A	A	G			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:131927091A>G	ENST00000265335.6	+	10	2015	c.1628A>G	c.(1627-1629)aAa>aGa	p.K543R	RAD50_ENST00000378823.3_Missense_Mutation_p.K404R			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	543					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCTGACCAAAGACAAAGTA	0.378								Homologous recombination					ENSG00000113522																																					0													94.0	85.0	88.0					5																	131927091		2203	4300	6503	SO:0001583	missense	0			-	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1628A>G	5.37:g.131927091A>G	ENSP00000265335:p.Lys543Arg		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.K543R	ENST00000265335.6	37	c.1628	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613771	0.46631	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.06687	3.27;3.51	5.96	3.3	0.37823	.	0.130558	0.64402	N	0.000002	T	0.06690	0.0171	N	0.25426	0.745	0.47511	D	0.999449	B	0.15473	0.013	B	0.15484	0.013	T	0.25398	-1.0133	10	0.42905	T	0.14	-22.5084	10.9665	0.47416	0.8549:0.0:0.1451:0.0	.	543	Q92878	RAD50_HUMAN	R	404;543	ENSP00000368100:K404R;ENSP00000265335:K543R	ENSP00000265335:K543R	K	+	2	0	RAD50	131954990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.327000	0.52045	1.094000	0.41399	0.533000	0.62120	AAA	-	RAD50	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	0	0	0	32	32	87	0.00	0.00	A	NM_005732		131927091	+1	9	34	14	48	tier1	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	39.13	41.46	SNP	1.000	G	9	14
WWC1	23286	genome.wustl.edu	37	5	167855148	167855148	+	Splice_Site	SNP	T	T	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:167855148T>C	ENST00000265293.4	+	12	2421		c.e12+2		WWC1_ENST00000521089.1_Splice_Site	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1						cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGTGCAGAGGTAGGTGTCTGG	0.602													ENSG00000113645																																					0													112.0	100.0	104.0					5																	167855148		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1919+2T>C	5.37:g.167855148T>C			B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Splice_Site	SNP	-	e12+2	ENST00000265293.4	37	c.1919+2	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042281	0.35989	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000393895;ENST00000524228	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5569	0.61765	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC1	167787726	1.000000	0.71417	0.995000	0.50966	0.306000	0.27790	7.170000	0.77587	1.801000	0.52704	0.533000	0.62120	.	-	WWC1	-	-		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	0	0	0	40	40	89	0.00	0.00	T	NM_015238	Intron	167855148	+1	10	17	13	40	tier1	no_errors	ENST00000265293	ensembl	human	known	74_37	splice_site	43.48	29.82	SNP	1.000	C	10	13
MED14	9282	genome.wustl.edu	37	X	40585955	40585955	+	Intron	SNP	G	G	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chrX:40585955G>A	ENST00000324817.1	-	3	467					NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATAACATTCGAAAAGTTATT	0.284													ENSG00000180182																																					0													23.0	22.0	23.0					X																	40585955		2199	4287	6486	SO:0001627	intron_variant	0			-	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.348+42C>T	X.37:g.40585955G>A			Q4KMR7|Q9UNB3	R	SNP	-	NULL	ENST00000324817.1	37	NULL	CCDS14254.1	X																																																																																			-	MED14	-	-		0.284	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	0	0	0	207	207	118	0.00	0.00	G	NM_004229		40585955	-1	82	31	102	34	tier1	no_errors	ENST00000463072	ensembl	human	known	74_37	rna	44.57	47.69	SNP	0.000	A	82	102
TBC1D31	93594	genome.wustl.edu	37	8	124132405	124132405	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:124132405T>C	ENST00000287380.1	+	11	1637	c.1547T>C	c.(1546-1548)tTt>tCt	p.F516S	TBC1D31_ENST00000521676.1_Missense_Mutation_p.F393S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.F516S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.F149S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.F411S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.F516S|TBC1D31_ENST00000378080.2_Missense_Mutation_p.F411S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	516	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTCATCTGTTTTGAAGTTATT	0.338													ENSG00000156787																																					0													92.0	80.0	84.0					8																	124132405		2202	4298	6500	SO:0001583	missense	0			-	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1547T>C	8.37:g.124132405T>C	ENSP00000287380:p.Phe516Ser		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.F516S	ENST00000287380.1	37	c.1547	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804357	0.90623	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.87	5.87	0.94306	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.65302	-0.6201	10	0.87932	D	0	-22.9665	16.2718	0.82624	0.0:0.0:0.0:1.0	.	516;411;516	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	S	516;516;516;411;393;411;149	ENSP00000287380:F516S;ENSP00000308358:F516S;ENSP00000312701:F516S;ENSP00000429334:F411S;ENSP00000430628:F393S;ENSP00000367320:F411S;ENSP00000429494:F149S	ENSP00000287380:F516S	F	+	2	0	WDR67	124201586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.963000	0.87922	2.239000	0.73571	0.528000	0.53228	TTT	-	TBC1D31	-	pfam_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.338	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1	0	0	0	50	50	91	0.00	0.00	T	NM_145647		124132405	+1	22	31	27	45	tier1	no_errors	ENST00000287380	ensembl	human	known	74_37	missense	44.90	40.79	SNP	1.000	C	22	27
PDLIM5	10611	genome.wustl.edu	37	4	95506840	95506840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:95506840C>T	ENST00000317968.4	+	6	971	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	PDLIM5_ENST00000538141.1_Nonsense_Mutation_p.Q156*|PDLIM5_ENST00000318007.5_Nonsense_Mutation_p.Q156*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000450793.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000508216.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000380180.3_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.Q170*|PDLIM5_ENST00000542407.1_Nonsense_Mutation_p.Q157*	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	279					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGAACAACTCAGTCTCGCTC	0.458													ENSG00000163110																																					0													113.0	96.0	102.0					4																	95506840		2203	4300	6503	SO:0001587	stop_gained	0			-	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.835C>T	4.37:g.95506840C>T	ENSP00000321746:p.Gln279*		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q279*	ENST00000317968.4	37	c.835	CCDS3641.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.917329	0.98560	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3287	0.94275	0.0:1.0:0.0:0.0	.	.	.	.	X	170;176;156;176;156;279;176;157;176;176	.	ENSP00000321746:Q279X	Q	+	1	0	PDLIM5	95725863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.624000	0.88883	0.650000	0.86243	CAG	-	PDLIM5	-	NULL		0.458	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	0	0	0	21	21	38	0.00	0.00	C			95506840	+1	14	28	41	44	tier1	no_errors	ENST00000317968	ensembl	human	known	74_37	nonsense	25.45	38.89	SNP	1.000	T	14	41
ABCB8	11194	genome.wustl.edu	37	7	150730556	150730556	+	Intron	SNP	T	T	A			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:150730556T>A	ENST00000297504.6	+	3	212				ABCB8_ENST00000477719.1_Intron|ABCB8_ENST00000477092.1_Intron|ABCB8_ENST00000356058.4_Intron|ABCB8_ENST00000493338.1_Intron|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000358849.4_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	AGAACAGCCCTGAGAAGGGCA	0.537													ENSG00000197150																																					0																																										SO:0001627	intron_variant	0			-	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.147-136T>A	7.37:g.150730556T>A			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	R	SNP	-	NULL	ENST00000297504.6	37	NULL		7																																																																																			-	ABCB8	-	-		0.537	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	0	0	0	16	16	40	0.00	0.00	T	NM_007188		150730556	+1	9	21	3	23	tier1	no_errors	ENST00000466956	ensembl	human	known	74_37	rna	75.00	47.73	SNP	0.000	A	9	3
CYFIP2	26999	genome.wustl.edu	37	5	156751051	156751053	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CTT	CTT	CTT	-	CTT	CTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:156751051_156751053delCTT	ENST00000521420.1	+	15	1807_1809	c.1716_1718delCTT	c.(1714-1719)tccttc>tcc	p.F575del	CYFIP2_ENST00000541131.1_In_Frame_Del_p.F526del|CYFIP2_ENST00000522463.1_In_Frame_Del_p.F405del|CYFIP2_ENST00000435847.2_In_Frame_Del_p.F300del|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000347377.6_In_Frame_Del_p.F601del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.F601del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.F626del|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAAACAGTCCTTCTTCTTCACA	0.537													ENSG00000055163																																					0																																										SO:0001651	inframe_deletion	0				AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1716_1718delCTT	5.37:g.156751057_156751059delCTT	ENSP00000430904:p.Phe575del			In_Frame_Del	DEL	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.F626in_frame_del	ENST00000521420.1	37	c.1869_1871		5																																																																																				CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.537	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	0	0	0	38	38	54	0.00	0.00	CTT	NM_001037332		156751053	+1	5	12	18	37	tier1	no_errors	ENST00000318218	ensembl	human	known	74_37	in_frame_del	21.74	24.49	DEL	1.000:1.000:1.000	-	5	18
SMARCB1	6598	genome.wustl.edu	37	22	24176678	24176700	+	3'UTR	DEL	CAACAGGTCATGTTCAATTTCTT	CAACAGGTCATGTTCAATTTCTT	-	rs5030614	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CAACAGGTCATGTTCAATTTCTT	CAACAGGTCATGTTCAATTTCTT	CAACAGGTCATGTTCAATTTCTT	-	CAACAGGTCATGTTCAATTTCTT	CAACAGGTCATGTTCAATTTCTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr22:24176678_24176700delCAACAGGTCATGTTCAATTTCTT	ENST00000263121.7	+	0	1665_1687				DERL3_ENST00000406855.3_3'UTR|SMARCB1_ENST00000344921.6_3'UTR|SMARCB1_ENST00000407422.3_3'UTR|DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000404056.1_3'UTR	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1						ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)			bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCA	0.435			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							ENSG00000099958		649	0.129593	0.1838	0.1282	5008	,	,		17370	0.0506		0.1471	False		,,,				2504	0.1207						yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	0																																										SO:0001624	3_prime_UTR_variant	0				U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.*333CAACAGGTCATGTTCAATTTCTT>-	22.37:g.24176678_24176700delCAACAGGTCATGTTCAATTTCTT			O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	R	DEL	-	NULL	ENST00000263121.7	37	NULL	CCDS13817.1	22																																																																																				DERL3	-	-		0.435	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319872.1	1	1	1	64	64	64	1.54	1.54	CAACAGGTCATGTTCAATTTCTT	NM_003073		24176700	-1	2	2	14	14	tier1	no_errors	ENST00000464023	ensembl	human	known	74_37	rna	12.50	12.50	DEL	0.881:0.744:0.541:0.169:0.191:0.247:0.273:0.214:0.004:0.003:0.003:0.004:0.017:0.025:0.031:0.034:0.036:0.045:0.051:0.010:0.016:0.016:0.010	-	2	14
DCHS1	8642	genome.wustl.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-	rs370785084|rs372916982		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													ENSG00000166341																																					1	Insertion - In frame(1)	prostate(1)								54,415,3471		8,0,38,73,269,1582						5.3	1.0		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	0				AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del		O15098	In_Frame_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L33in_frame_del	ENST00000299441.3	37	c.99_97	CCDS7771.1	11																																																																																				DCHS1	-	NULL		0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	0	0	0	54	54	17	0.00	0.00	CAG	NM_003737		6662748	-1	6	0	38	8	tier1	no_errors	ENST00000299441	ensembl	human	known	74_37	in_frame_del	13.64	0.00	DEL	1.000:1.000:1.000	-	6	38
FOXC1	2296	genome.wustl.edu	37	6	1612142	1612144	+	In_Frame_Del	DEL	GCG	GCG	-	rs373281258		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:1612142_1612144delGCG	ENST00000380874.2	+	1	1462_1464	c.1462_1464delGCG	c.(1462-1464)gcgdel	p.A495del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	495	Poly-Ala.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTGGCGAGCgcggcggcggcgg	0.709													ENSG00000054598																									Pancreas(133;719 1821 3197 26645 35015)												0										60,2238		8,44,1097						0.0	0.6			5	176,4724		16,144,2290	no	coding	FOXC1	NM_001453.2		24,188,3387	A1A1,A1R,RR		3.5918,2.611,3.2787				236,6962				SO:0001651	inframe_deletion	0				AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1462_1464delGCG	6.37:g.1612151_1612153delGCG	ENSP00000370256:p.Ala495del		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A491in_frame_del	ENST00000380874.2	37	c.1462_1464	CCDS4473.1	6																																																																																				FOXC1	-	NULL		0.709	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1	0	0	0	26	26	5	0.00	0.00	GCG			1612144	+1	3	0	25	4	tier1	no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_del	10.71	0.00	DEL	0.998:0.998:0.994	-	3	25
IBA57	200205	genome.wustl.edu	37	1	228362561	228362561	+	Silent	SNP	C	C	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:228362561C>T	ENST00000366711.3	+	2	512	c.510C>T	c.(508-510)tgC>tgT	p.C170C	IBA57_ENST00000546123.1_5'UTR|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	170					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGAGGCCTGCGGGGCTGCAT	0.687													ENSG00000181873																																					0													21.0	22.0	21.0					1																	228362561		2193	4292	6485	SO:0001819	synonymous_variant	0			-	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.510C>T	1.37:g.228362561C>T				Silent	SNP	pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.C170	ENST00000366711.3	37	c.510	CCDS31046.1	1																																																																																			-	IBA57	-	pfam_GCV_T_N		0.687	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	HGNC	protein_coding	OTTHUMT00000095980.1	0	0	0	26	26	8	0.00	0.00	C	NM_001010867		228362561	+1	4	0	24	8	tier1	no_errors	ENST00000366711	ensembl	human	known	74_37	silent	14.29	0.00	SNP	0.000	T	4	24
SPTBN5	51332	genome.wustl.edu	37	15	42158730	42158730	+	Intron	SNP	G	G	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr15:42158730G>T	ENST00000320955.6	-	37	6708				MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGTTCTGCAGCCTCAGGCCC	0.662													ENSG00000264850																																					0													13.0	14.0	13.0					15																	42158730		1950	4131	6081	SO:0001627	intron_variant	0			-	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6481-39C>A	15.37:g.42158730G>T				R	SNP	-	NULL	ENST00000320955.6	37	NULL		15																																																																																			-	MIR4310	-	-		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	MIR4310	HGNC	protein_coding	OTTHUMT00000420237.1	0	0	0	22	22	17	0.00	0.00	G	NM_016642		42158730	-1	4	0	16	9	tier1	no_errors	ENST00000582950	ensembl	human	known	74_37	rna	20.00	0.00	SNP	0.000	T	4	16
SCPEP1	59342	genome.wustl.edu	37	17	55062464	55062465	+	Intron	INS	-	-	GAAAA	rs34242828|rs397829366|rs3056052|rs573491470	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr17:55062464_55062465insGAAAA	ENST00000262288.3	+	3	280				SCPEP1_ENST00000571898.1_Intron|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1						negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					agactctgtctgaaaagaaaag	0.475													ENSG00000263120																																					0																																										SO:0001627	intron_variant	0				AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.226-274->GAAAA	17.37:g.55062470_55062474dupGAAAA			Q96A94|Q9H3F0	R	INS	-	NULL	ENST00000262288.3	37	NULL	CCDS11593.1	17																																																																																				RP5-1107A17.4	-	-		0.475	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263120	Clone_based_vega_gene	protein_coding	OTTHUMT00000440622.1	0	0	0	0	0	0	0.00	0.00	-	NM_021626		55062465	+1	0	0	0	0	tier1	no_errors	ENST00000572877	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.001:0.001	GAAAA	0	0
LIF	3976	genome.wustl.edu	37	22	30642572	30642573	+	Intron	INS	-	-	G	rs547325082	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr22:30642572_30642573insG	ENST00000249075.3	-	1	175				RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000608354.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor						blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GTGTCTGCGGCGGGTGGGCGTC	0.772													ENSG00000268812																																					0																																										SO:0001627	intron_variant	0					CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.19+92->C	22.37:g.30642575_30642575dupG			B2RCW7|B5MC23|Q52LZ2	R	INS	-	NULL	ENST00000249075.3	37	NULL	CCDS13872.1	22																																																																																				RP1-102K2.8	-	-		0.772	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268812	Clone_based_vega_gene	protein_coding	OTTHUMT00000320508.1	0	0	0	47	47	2	0.00	0.00	-	NM_002309		30642573	+1	2	0	16	0	tier1	no_errors	ENST00000593843	ensembl	human	known	74_37	rna	11.11	0.00	INS	0.129:0.123	G	2	16
FOXF2	2295	genome.wustl.edu	37	6	1391085	1391086	+	In_Frame_Ins	INS	-	-	GGC	rs58230522|rs147426137|rs147183226|rs111257067|rs397731476	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:1391085_1391086insGGC	ENST00000259806.1	+	1	1017_1018	c.903_904insGGC	c.(904-906)ggc>GGCggc	p.302_302G>GG		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	302	Poly-Gly.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		gtgcggccgggggcggcggcgg	0.748													ENSG00000137273		1967	0.392772	0.3812	0.3429	5008	,	,		10454	0.497		0.3072	False		,,,				2504	0.4243																0										240,298		113,14,142						-6.4	0.1		dbSNP_126	1	607,1133		267,73,530	no	coding	FOXF2	NM_001452.1		380,87,672	A1A1,A1R,RR		34.8851,44.6097,37.1817				847,1431				SO:0001652	inframe_insertion	0				U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.916_918dupGGC	6.37:g.1391092_1391094dupGGC	ENSP00000259806:p.Gly306dup		Q5TGJ1|Q9UQ85	In_Frame_Ins	INS	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.305in_frame_insG	ENST00000259806.1	37	c.903_904	CCDS4472.1	6																																																																																				FOXF2	-	NULL		0.748	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1	0	0	0	9	9	1	0.00	0.00	-			1391086	+1	3	0	8	0	tier1	no_errors	ENST00000259806	ensembl	human	known	74_37	in_frame_ins	27.27	0.00	INS	0.009:0.179	GGC	3	8
FOXO3	2309	genome.wustl.edu	37	6	108882648	108882650	+	In_Frame_Del	DEL	CGG	CGG	-	rs372569038		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:108882648_108882650delCGG	ENST00000343882.6	+	2	541_543	c.237_239delCGG	c.(235-240)atcggc>atc	p.G84del	FOXO3_ENST00000406360.1_In_Frame_Del_p.G84del	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	84					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCATGGCGATCGGCGGCGGCGGC	0.759													ENSG00000118689																																					0																																										SO:0001651	inframe_deletion	0				AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.237_239delCGG	6.37:g.108882657_108882659delCGG	ENSP00000339527:p.Gly84del		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G83in_frame_del	ENST00000343882.6	37	c.237_239	CCDS5068.1	6																																																																																				FOXO3	-	NULL		0.759	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	HGNC	protein_coding	OTTHUMT00000041722.2	0	0	0	15	15	1	0.00	0.00	CGG			108882650	+1	2	0	6	2	tier1	no_errors	ENST00000343882	ensembl	human	known	74_37	in_frame_del	25.00	0.00	DEL	0.964:0.974:0.982	-	2	6
GOLGA6L10	647042	genome.wustl.edu	37	15	82637615	82637615	+	Silent	SNP	A	A	T			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr15:82637615A>T	ENST00000439287.4	-	6	570	c.471T>A	c.(469-471)tcT>tcA	p.S157S		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10	157										endometrium(1)|kidney(4)	5						GCTCCACCTTAGATGGCCCTG	0.488													ENSG00000205281																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580	ENST00000439287.4:c.471T>A	15.37:g.82637615A>T				Silent	SNP	NULL	p.S157	ENST00000439287.4	37	c.471	CCDS45325.1	15																																																																																			-	GOLGA6L10	-	NULL		0.488	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927601	Uniprot_gn	protein_coding	OTTHUMT00000419403.2	0	0	0	22	22	0	0.00	0.00	A	NM_001164465		82637615	-1	6	0	16	0	tier1	no_errors	ENST00000439287	ensembl	human	known	74_37	silent	27.27	0.00	SNP	0.083	T	6	16
MMP17	4326	genome.wustl.edu	37	12	132313098	132313099	+	In_Frame_Ins	INS	-	-	GCTGCCGCT	rs559842978|rs201578983|rs71072797	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:132313098_132313099insGCTGCCGCT	ENST00000360564.1	+	1	161_162	c.59_60insGCTGCCGCT	c.(58-63)cggctg>cgGCTGCCGCTgctg	p.21_22insPLL		NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	21					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	ggactctcgcggctgccgctgc	0.837													ENSG00000198598		4777	0.953874	0.8797	0.9741	5008	,	,		2816	0.999		0.9702	False		,,,				2504	0.9765																0																																										SO:0001652	inframe_insertion	0				X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.60_68dupGCTGCCGCT	12.37:g.132313099_132313107dupGCTGCCGCT	ENSP00000353767:p.Leu21_Pro22insProLeuLeu		Q14850	In_Frame_Ins	INS	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.24in_frame_insLPL	ENST00000360564.1	37	c.59_60	CCDS31927.1	12																																																																																				MMP17	-	pirsf_Pept_M10A_Metazoans		0.837	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	HGNC	protein_coding	OTTHUMT00000397757.1	0	0	0	0	0	0	0.00	0.00	-	NM_016155		132313099	+1	0	0	0	0	tier1	no_errors	ENST00000360564	ensembl	human	known	74_37	in_frame_ins	0.00	0.00	INS	0.023:0.052	GCTGCCGCT	0	0
RNF126	55658	genome.wustl.edu	37	19	648399	648399	+	Missense_Mutation	SNP	G	G	C	rs146932907		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr19:648399G>C	ENST00000292363.5	-	8	914	c.759C>G	c.(757-759)gaC>gaG	p.D253E		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGCAGCCGTCGTGGAACA	0.716													ENSG00000070423																																					0													14.0	13.0	13.0					19																	648399		2169	4257	6426	SO:0001583	missense	0			-	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.759C>G	19.37:g.648399G>C	ENSP00000292363:p.Asp253Glu			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D253E	ENST00000292363.5	37	c.759	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	-	13.24	2.177377	0.38413	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.39997	1.05	3.92	-1.7	0.08159	.	0.060931	0.64402	U	0.000004	T	0.15739	0.0379	N	0.02120	-0.675	0.26098	N	0.980863	P;P	0.38745	0.645;0.616	B;B	0.41571	0.148;0.36	T	0.36866	-0.9730	10	0.22109	T	0.4	.	8.6292	0.33908	0.5201:0.0:0.4799:0.0	.	253;105	Q9BV68-2;Q9NPN4	.;.	E	253	ENSP00000292363:D253E	ENSP00000292363:D253E	D	-	3	2	RNF126	599399	0.015000	0.18098	0.973000	0.42090	0.772000	0.43724	-0.285000	0.08410	-0.032000	0.13758	-0.734000	0.03567	GAC	-	RNF126	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.716	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	0	0	0	14	14	4	0.00	0.00	G	NM_017876		648399	-1	5	5	5	4	tier1	no_errors	ENST00000292363	ensembl	human	known	74_37	missense	50.00	55.56	SNP	0.992	C	5	5
