#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADARB2	105	genome.wustl.edu	37	10	1405909	1405909	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:1405909C>G	ENST00000381312.1	-	3	716	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	131	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGCAGCTGCACCAGCGCGTTC	0.677																																						dbGAP											0													28.0	28.0	28.0					10																	1405909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.391G>C	10.37:g.1405909C>G	ENSP00000370713:p.Val131Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.V131L	ENST00000381312.1	37	c.391	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	c	25.4	4.639037	0.87760	.	.	ENSG00000185736	ENST00000381312	T	0.75589	-0.95	4.93	4.93	0.64822	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.060991	0.64402	D	0.000003	T	0.74688	0.3749	L	0.42245	1.32	0.80722	D	1	P	0.46706	0.883	P	0.48089	0.566	T	0.74802	-0.3541	10	0.38643	T	0.18	-39.0841	18.1783	0.89768	0.0:1.0:0.0:0.0	.	131	Q9NS39	RED2_HUMAN	L	131	ENSP00000370713:V131L	ENSP00000370713:V131L	V	-	1	0	ADARB2	1395909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.860000	0.62961	2.282000	0.76494	0.558000	0.71614	GTG	ADARB2	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000185736		0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	12	0.00	0	C	NM_018702		1405909	1405909	-1	no_errors	ENST00000381312	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	G
ARHGAP9	64333	genome.wustl.edu	37	12	57873203	57873203	+	5'UTR	SNP	G	G	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr12:57873203G>T	ENST00000356411.2	-	0	125				ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.T75K|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.T67K|ARHGAP9_ENST00000393791.3_5'UTR|ARHGAP9_ENST00000424809.2_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9						positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCAGCACTGTCACCTGTGA	0.602																																						dbGAP											0													18.0	19.0	19.0					12																	57873203		2202	4297	6499	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.-14C>A	12.37:g.57873203G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.T67K	ENST00000356411.2	37	c.200		12	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822211	0.71028	.	.	ENSG00000123329	ENST00000393797;ENST00000340423	T	0.09911	2.93	5.03	4.14	0.48551	.	1.217310	0.06276	N	0.696586	T	0.12518	0.0304	.	.	.	0.80722	D	1	B	0.26400	0.148	B	0.24848	0.056	T	0.05468	-1.0883	9	0.87932	D	0	.	9.5957	0.39573	0.098:0.0:0.902:0.0	.	75	Q6ZN13	.	K	67;45	ENSP00000377386:T67K	ENSP00000344852:T45K	T	-	2	0	ARHGAP9	56159470	0.756000	0.28383	0.043000	0.18650	0.922000	0.55478	1.901000	0.39838	1.259000	0.44117	0.655000	0.94253	ACA	ARHGAP9	-	NULL	ENSG00000123329		0.602	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		11	0.00	0	G	NM_032496		57873203	57873203	-1	no_errors	ENST00000393797	ensembl	human	putative	69_37n	missense	1	88.89	8	SNP	0.280	T
ALKBH2	121642	genome.wustl.edu	37	12	109530530	109530530	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr12:109530530T>C	ENST00000429722.2	-	2	425	c.62A>G	c.(61-63)gAg>gGg	p.E21G	ALKBH2_ENST00000343075.3_Missense_Mutation_p.E21G|ALKBH2_ENST00000440112.2_Missense_Mutation_p.E21G	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	21					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TCCAGTTGGCTCTTGCTCCTC	0.592								Direct reversal of damage																														dbGAP											0													152.0	164.0	160.0					12																	109530530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.62A>G	12.37:g.109530530T>C	ENSP00000398181:p.Glu21Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4PET2|Q5XLE3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.E21G	ENST00000429722.2	37	c.62	CCDS31897.1	12	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901727	0.52227	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.24908	1.83;1.83	4.53	0.737	0.18314	.	4.224040	0.00357	N	0.000034	T	0.18923	0.0454	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.001	T	0.15809	-1.0424	10	0.36615	T	0.2	-9.881	4.0312	0.09710	0.0:0.1997:0.1813:0.619	.	21;21	A4PET2;Q6NS38	.;ALKB2_HUMAN	G	21	ENSP00000398181:E21G;ENSP00000343021:E21G	ENSP00000343021:E21G	E	-	2	0	ALKBH2	108014913	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.280000	0.18790	0.021000	0.15133	0.379000	0.24179	GAG	ALKBH2	-	NULL	ENSG00000189046		0.592	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALKBH2	HGNC	protein_coding	OTTHUMT00000403063.2	125	0.00	0	T	NM_001001655		109530530	109530530	-1	no_errors	ENST00000343075	ensembl	human	known	69_37n	missense	73	21.51	20	SNP	0.000	C
C10orf2	56652	genome.wustl.edu	37	10	102753070	102753070	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:102753070G>C	ENST00000311916.2	+	5	2043	c.1858G>C	c.(1858-1860)Gag>Cag	p.E620Q	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	620	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTTCCCGCTTGAGTTCAACAA	0.532																																						dbGAP											0													176.0	183.0	181.0					10																	102753070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1858G>C	10.37:g.102753070G>C	ENSP00000309595:p.Glu620Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.E620Q	ENST00000311916.2	37	c.1858	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.143777	0.94603	.	.	ENSG00000107815	ENST00000311916	T	0.66815	-0.23	5.7	5.7	0.88788	DNA helicase, DnaB-like, C-terminal (1);	0.051849	0.85682	D	0.000000	T	0.69753	0.3146	L	0.44542	1.39	0.80722	D	1	D	0.54047	0.964	P	0.52672	0.706	T	0.63523	-0.6618	10	0.20046	T	0.44	-23.727	18.8118	0.92061	0.0:0.0:1.0:0.0	.	620	Q96RR1	PEO1_HUMAN	Q	620	ENSP00000309595:E620Q	ENSP00000309595:E620Q	E	+	1	0	C10orf2	102743060	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.534000	0.98061	2.695000	0.91970	0.455000	0.32223	GAG	C10orf2	-	pfscan_DNA_helicase_DnaB-like_C	ENSG00000107815		0.532	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	65	0.00	0	G	NM_021830		102753070	102753070	+1	no_errors	ENST00000311916	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	1.000	C
C1orf85	112770	genome.wustl.edu	37	1	156263310	156263310	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr1:156263310C>T	ENST00000362007.1	-	5	882	c.856G>A	c.(856-858)Gct>Act	p.A286T	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	286					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGGAGTAAGCCACTGGTCGC	0.582																																						dbGAP											0													51.0	57.0	55.0					1																	156263310		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.856G>A	1.37:g.156263310C>T	ENSP00000354553:p.Ala286Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	NULL	p.A286T	ENST00000362007.1	37	c.856	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527087	0.85706	.	.	ENSG00000198715	ENST00000362007	T	0.25085	1.82	5.27	5.27	0.74061	.	0.059089	0.64402	D	0.000003	T	0.41949	0.1181	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.974	T	0.15549	-1.0433	10	0.44086	T	0.13	-10.3867	14.2571	0.66060	0.0:1.0:0.0:0.0	.	205;286	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	T	286	ENSP00000354553:A286T	ENSP00000354553:A286T	A	-	1	0	C1orf85	154529934	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.979000	0.49313	2.733000	0.93635	0.462000	0.41574	GCT	C1orf85	-	NULL	ENSG00000198715		0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	33	0.00	0	C	NM_144580		156263310	156263310	-1	no_errors	ENST00000362007	ensembl	human	known	69_37n	missense	53	20.90	14	SNP	1.000	T
CCDC172	374355	genome.wustl.edu	37	10	118117402	118117402	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:118117402A>C	ENST00000333254.3	+	7	856	c.605A>C	c.(604-606)gAa>gCa	p.E202A		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	202																	CTAGAGGCAGAAAAAATAAAA	0.274																																						dbGAP											0													48.0	50.0	49.0					10																	118117402		2198	4285	6483	-	-	-	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.605A>C	10.37:g.118117402A>C	ENSP00000329860:p.Glu202Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E202A	ENST00000333254.3	37	c.605	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184088	0.78677	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.74258	2.255	0.50039	D	0.999847	D	0.89917	1.0	D	0.87578	0.998	T	0.81450	-0.0927	9	0.66056	D	0.02	-7.7717	16.0023	0.80306	1.0:0.0:0.0:0.0	.	202	P0C7W6	CJ096_HUMAN	A	202	.	ENSP00000329860:E202A	E	+	2	0	C10orf96	118107392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.013000	0.70776	2.177000	0.69029	0.533000	0.62120	GAA	CCDC172	-	NULL	ENSG00000182645		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	HGNC	protein_coding	OTTHUMT00000050516.2	79	0.00	0	A	NM_198515		118117402	118117402	+1	no_errors	ENST00000333254	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	C
CHD7	55636	genome.wustl.edu	37	8	61773610	61773610	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr8:61773610C>T	ENST00000423902.2	+	35	8235	c.7756C>T	c.(7756-7758)Cct>Tct	p.P2586S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2586					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAGATGCTCCTAAAAATAA	0.458																																						dbGAP											0													64.0	65.0	64.0					8																	61773610		1963	4150	6113	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7756C>T	8.37:g.61773610C>T	ENSP00000392028:p.Pro2586Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2586S	ENST00000423902.2	37	c.7756	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812633	0.50527	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.73575	-0.76	5.73	5.73	0.89815	BRK domain (2);	0.233462	0.38058	N	0.001829	T	0.74898	0.3777	L	0.61387	1.9	0.40988	D	0.984835	B	0.14805	0.011	B	0.19666	0.026	T	0.69716	-0.5070	10	0.40728	T	0.16	-11.7688	19.9036	0.96999	0.0:1.0:0.0:0.0	.	2586	Q9P2D1	CHD7_HUMAN	S	2586	ENSP00000392028:P2586S	ENSP00000307304:P2586S	P	+	1	0	CHD7	61936164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.016000	0.49607	2.706000	0.92434	0.655000	0.94253	CCT	CHD7	-	pfam_BRK_domain,smart_BRK_domain	ENSG00000171316		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	31	0.00	0	C	XM_098762		61773610	61773610	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.993	T
CLYBL	171425	genome.wustl.edu	37	13	100425236	100425236	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr13:100425236G>C	ENST00000376360.1	+	2	248	c.221G>C	c.(220-222)tGt>tCt	p.C74S	CLYBL_ENST00000339105.4_Missense_Mutation_p.C74S|CLYBL_ENST00000444838.2_Missense_Mutation_p.C74S|CLYBL_ENST00000376355.3_Missense_Mutation_p.C74S|CLYBL_ENST00000376354.1_Missense_Mutation_p.C74S			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	74						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGCTCGACTGTGAGGATGGA	0.403																																						dbGAP											0													101.0	98.0	99.0					13																	100425236		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.221G>C	13.37:g.100425236G>C	ENSP00000365538:p.Cys74Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta	p.C74S	ENST00000376360.1	37	c.221	CCDS32002.1	13	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415170	0.83449	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.32	5.32	0.75619	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77004	0.98;0.973;0.989	T	0.63646	-0.6590	10	0.72032	D	0.01	3.5722	18.991	0.92793	0.0:0.0:1.0:0.0	.	74;74;74	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	S	74	ENSP00000365533:C74S;ENSP00000365538:C74S;ENSP00000404768:C74S;ENSP00000365532:C74S;ENSP00000342991:C74S	ENSP00000342991:C74S	C	+	2	0	CLYBL	99223237	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.955000	0.93058	2.494000	0.84150	0.462000	0.41574	TGT	CLYBL	-	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta	ENSG00000125246		0.403	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLYBL	HGNC	protein_coding	OTTHUMT00000045611.1	55	0.00	0	G			100425236	100425236	+1	no_errors	ENST00000339105	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	C
COPA	1314	genome.wustl.edu	37	1	160264342	160264342	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr1:160264342G>A	ENST00000241704.7	-	25	2837	c.2608C>T	c.(2608-2610)Ctt>Ttt	p.L870F	COPA_ENST00000368069.3_Missense_Mutation_p.L879F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	870					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTTGCCAAGAGCATCATCC	0.483																																						dbGAP											0													173.0	158.0	163.0					1																	160264342		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2608C>T	1.37:g.160264342G>A	ENSP00000241704:p.Leu870Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L879F	ENST00000241704.7	37	c.2635	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932873	0.52866	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.44482	0.92;0.92	5.63	4.66	0.58398	Coatomer, alpha subunit, C-terminal (1);	0.337709	0.28641	N	0.014637	T	0.13329	0.0323	N	0.04508	-0.205	0.30714	N	0.748964	B;B	0.21147	0.052;0.034	B;B	0.33799	0.17;0.055	T	0.13899	-1.0492	10	0.49607	T	0.09	-14.7004	12.1538	0.54064	0.0:0.2899:0.7101:0.0	.	870;879	P53621;P53621-2	COPA_HUMAN;.	F	879;870	ENSP00000357048:L879F;ENSP00000241704:L870F	ENSP00000241704:L870F	L	-	1	0	COPA	158530966	0.000000	0.05858	0.998000	0.56505	0.984000	0.73092	-0.038000	0.12144	2.653000	0.90120	0.555000	0.69702	CTT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.483	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	113	0.00	0	G	NM_004371		160264342	160264342	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	129	29.51	54	SNP	0.983	A
DRGX	644168	genome.wustl.edu	37	10	50594777	50594777	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:50594777G>T	ENST00000374139.2	-	4	372	c.362C>A	c.(361-363)cCc>cAc	p.P121H	DRGX_ENST00000434016.1_Missense_Mutation_p.P126H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	121					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTCCCCAGGGGGCGGGGAGTT	0.652																																						dbGAP											0													80.0	90.0	87.0					10																	50594777		1989	4154	6143	-	-	-	SO:0001583	missense	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.362C>A	10.37:g.50594777G>T	ENSP00000363254:p.Pro121His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.P126H	ENST00000374139.2	37	c.377		10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299841	0.81136	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.92048	-2.96;-2.92	5.29	5.29	0.74685	.	0.061993	0.64402	D	0.000003	D	0.85483	0.5707	N	0.08118	0	0.51767	D	0.999931	P	0.43169	0.8	B	0.41723	0.365	D	0.86527	0.1819	10	0.37606	T	0.19	.	18.9358	0.92584	0.0:0.0:1.0:0.0	.	126	C9JW76	.	H	121;126	ENSP00000363254:P121H;ENSP00000401653:P126H	ENSP00000363254:P121H	P	-	2	0	DRGX	50264783	1.000000	0.71417	0.608000	0.28969	0.895000	0.52256	9.294000	0.96088	2.470000	0.83445	0.563000	0.77884	CCC	DRGX	-	NULL	ENSG00000165606		0.652	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	61	0.00	0	G	XM_060970		50594777	50594777	-1	no_errors	ENST00000434016	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	1.000	T
DMBT1	1755	genome.wustl.edu	37	10	124351807	124351807	+	Silent	SNP	C	C	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:124351807C>A	ENST00000338354.3	+	20	2302	c.2196C>A	c.(2194-2196)acC>acA	p.T732T	DMBT1_ENST00000344338.3_Silent_p.T722T|DMBT1_ENST00000368955.3_Silent_p.T722T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.T732T|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	732					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTTTGACCCTGAGGCTGG	0.532																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													372.0	269.0	302.0					10																	124351807		1983	4137	6120	-	-	-	SO:0001819	synonymous_variant	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2196C>A	10.37:g.124351807C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.T732	ENST00000338354.3	37	c.2196		10																																																																																			DMBT1	-	superfamily_Srcr_rcpt-rel	ENSG00000187908		0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	157	0.00	0	C	NM_004406		124351807	124351807	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	silent	111	17.78	24	SNP	0.000	A
FCHSD2	9873	genome.wustl.edu	37	11	72552500	72552500	+	Splice_Site	SNP	G	G	A	rs201269620	byFrequency	TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr11:72552500G>A	ENST00000409418.4	-	18	2438	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	FCHSD2_ENST00000409263.1_Splice_Site_p.N46N|FCHSD2_ENST00000458644.2_Splice_Site_p.N549N|FCHSD2_ENST00000311172.7_Splice_Site_p.N629N|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409314.1_Splice_Site_p.N709N	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	685										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AACCCTTACCGTTTGCTGAAG	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		17201	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													46.0	40.0	42.0					11																	72552500		2200	4293	6493	-	-	-	SO:0001630	splice_region_variant	0			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.2056+1C>T	11.37:g.72552500G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.N685	ENST00000409418.4	37	c.2055	CCDS8218.2	11																																																																																			FCHSD2	-	NULL	ENSG00000137478		0.507	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	54	0.00	0	G	NM_014824	Silent	72552500	72552500	-1	no_errors	ENST00000409418	ensembl	human	known	69_37n	silent	26	38.10	16	SNP	0.829	A
FLOT2	2319	genome.wustl.edu	37	17	27211282	27211282	+	Silent	SNP	C	C	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr17:27211282C>A	ENST00000394908.4	-	3	287	c.183G>T	c.(181-183)acG>acT	p.T61T	FLOT2_ENST00000394906.2_Silent_p.T116T|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000577789.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	61					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCCCCTCGGCCGTCTCTACGT	0.607																																						dbGAP											0													65.0	72.0	70.0					17																	27211282		2066	4200	6266	-	-	-	SO:0001819	synonymous_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.183G>T	17.37:g.27211282C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G92C	ENST00000394908.4	37	c.274	CCDS11245.2	17																																																																																			FLOT2	-	NULL	ENSG00000132589		0.607	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	25	0.00	0	C	NM_004475		27211282	27211282	-1	no_errors	ENST00000580805	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	A
FMNL1	752	genome.wustl.edu	37	17	43321319	43321319	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr17:43321319C>T	ENST00000331495.3	+	18	2711	c.2375C>T	c.(2374-2376)cCg>cTg	p.P792L	CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.P792L|FMNL1_ENST00000587489.1_Missense_Mutation_p.P370L	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	792	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCCGCATCCCGCGCCTGCCG	0.657																																					GBM(164;1247 1997 8702 11086 51972)	dbGAP											0													73.0	70.0	71.0					17																	43321319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2375C>T	17.37:g.43321319C>T	ENSP00000329219:p.Pro792Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.P792L	ENST00000331495.3	37	c.2375	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619153	0.66787	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.68903	-0.36;-0.36	4.19	3.18	0.36537	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.053163	0.85682	D	0.000000	D	0.83926	0.5360	M	0.92604	3.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.86494	0.1799	10	0.62326	D	0.03	.	11.9301	0.52841	0.1818:0.8182:0.0:0.0	.	792	O95466	FMNL_HUMAN	L	792;792;447	ENSP00000327442:P792L;ENSP00000329219:P792L	ENSP00000327442:P792L	P	+	2	0	FMNL1	40677102	0.003000	0.15002	0.952000	0.39060	0.902000	0.53008	0.454000	0.21827	1.046000	0.40249	0.462000	0.41574	CCG	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000184922		0.657	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	45	0.00	0	C	NM_005892		43321319	43321319	+1	no_errors	ENST00000328118	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	0.988	T
FRMD3	257019	genome.wustl.edu	37	9	85863339	85863339	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr9:85863339C>T	ENST00000304195.3	-	14	1494	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.E87K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E236K|FRMD3_ENST00000376438.1_Missense_Mutation_p.E430K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	430						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTTCCTCTTCACTAGGGGGA	0.488																																						dbGAP											0													86.0	85.0	85.0					9																	85863339		1870	4108	5978	-	-	-	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1288G>A	9.37:g.85863339C>T	ENSP00000303508:p.Glu430Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E430K	ENST00000304195.3	37	c.1288	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682604	0.29872	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86097	-1.65;-2.07;0.87;-1.64	5.68	5.68	0.88126	.	0.153231	0.56097	D	0.000023	T	0.70771	0.3262	N	0.03115	-0.41	0.54753	D	0.999982	B;B;B	0.20887	0.002;0.007;0.049	B;B;B	0.20184	0.004;0.015;0.028	T	0.66677	-0.5863	10	0.12766	T	0.61	.	19.8666	0.96804	0.0:1.0:0.0:0.0	.	430;430;87	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	K	430;236;87;430	ENSP00000365621:E430K;ENSP00000365617:E236K;ENSP00000328615:E87K;ENSP00000303508:E430K	ENSP00000303508:E430K	E	-	1	0	FRMD3	85053159	0.992000	0.36948	0.998000	0.56505	0.770000	0.43624	3.121000	0.50438	2.707000	0.92482	0.650000	0.86243	GAA	FRMD3	-	NULL	ENSG00000172159		0.488	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	68	0.00	0	C	NM_174938		85863339	85863339	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	missense	20	51.22	21	SNP	0.997	T
GOLGA6L1	283767	genome.wustl.edu	37	15	22742655	22742657	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr15:22742655_22742657delAGG	ENST00000560659.2	+	8	890_892	c.890_892delAGG	c.(889-894)aaggag>aag	p.E299del	GOLGA6L1_ENST00000316397.3_In_Frame_Del_p.E349del			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	343										NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						atgtgggagaaggaggagaagat	0.562																																						dbGAP											0										32,662		12,8,327							0.0			1	14,1684		3,8,838	no	coding	GOLGA6L1	NM_001001413.3		15,16,1165	A1A1,A1R,RR		0.8245,4.611,1.9231				46,2346				-	-	-	SO:0001651	inframe_deletion	0			AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.890_892delAGG	15.37:g.22742658_22742660delAGG	ENSP00000452626:p.Glu299del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E349in_frame_del	ENST00000560659.2	37	c.1040_1042		15																																																																																			GOLGA6L1	-	NULL	ENSG00000197414		0.562	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	GOLGA6L1	HGNC	protein_coding	OTTHUMT00000415616.2	69	0.00	0	AGG	NM_001001413		22742655	22742657	+1	no_errors	ENST00000316397	ensembl	human	known	69_37n	in_frame_del	22	18.52	5	DEL	0.013:0.017:0.020	-
HERC2	8924	genome.wustl.edu	37	15	28483866	28483866	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr15:28483866T>C	ENST00000261609.7	-	24	3738	c.3630A>G	c.(3628-3630)atA>atG	p.I1210M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCTTTGCGTATAAGTGTCA	0.383																																						dbGAP											0													74.0	68.0	70.0					15																	28483866		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3630A>G	15.37:g.28483866T>C	ENSP00000261609:p.Ile1210Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.I1210M	ENST00000261609.7	37	c.3630	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721597	0.68959	.	.	ENSG00000128731	ENST00000261609	T	0.81330	-1.48	5.7	-1.68	0.08212	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	D	0.88662	0.6497	M	0.87547	2.89	0.54753	D	0.999987	D	0.76494	0.999	D	0.87578	0.998	D	0.88224	0.2899	10	0.87932	D	0	.	12.2033	0.54339	0.1067:0.0:0.607:0.2863	.	1210	O95714	HERC2_HUMAN	M	1210	ENSP00000261609:I1210M	ENSP00000261609:I1210M	I	-	3	3	HERC2	26157461	0.995000	0.38212	0.930000	0.37139	0.962000	0.63368	0.217000	0.17603	-0.196000	0.10366	0.528000	0.53228	ATA	HERC2	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5	ENSG00000128731		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	111	0.00	0	T	NM_004667		28483866	28483866	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	55	26.67	20	SNP	0.993	C
IGKV1D-16	28901	genome.wustl.edu	37	2	90139432	90139432	+	RNA	SNP	C	C	A	rs375181188		TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr2:90139432C>A	ENST00000492446.1	+	0	230									immunoglobulin kappa variable 1D-16																		GCCCCTAAGTCCCTGATCTAT	0.532																																						dbGAP											0													156.0	162.0	160.0					2																	90139432		1919	4131	6050	-	-	-			0			K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139432C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S68Y	ENST00000492446.1	37	c.203		2																																																																																			IGKV1D-16	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000241244		0.532	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-16	HGNC	IG_V_gene	OTTHUMT00000323144.2	129	0.00	0	C	NG_000833		90139432	90139432	+1	no_stop_codon	ENST00000492446	ensembl	human	known	69_37n	missense	108	18.18	24	SNP	0.750	A
KRTAP5-1	387264	genome.wustl.edu	37	11	1606146	1606147	+	In_Frame_Ins	INS	-	-	GCC	rs138363822|rs199501537	byFrequency	TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr11:1606146_1606147insGCC	ENST00000382171.2	-	1	366_367	c.333_334insGGC	c.(331-336)tcttgt>tctGGCtgt	p.111_112SC>SGC	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	111	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATCCCCCACAAGAGCCACAGC	0.663																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.333_334insGGC	11.37:g.1606146_1606147insGCC	ENSP00000371606:p.Ser111_Cys112insGly	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	NULL	p.111in_frame_insG	ENST00000382171.2	37	c.334_333	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.663	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1	20	0.00	0	-	NM_001005922		1606146	1606147	-1	no_errors	ENST00000382171	ensembl	human	known	69_37n	in_frame_ins	5	28.57	2	INS	0.458:0.354	GCC
LGALS14	56891	genome.wustl.edu	37	19	40199876	40199876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr19:40199876C>T	ENST00000392052.3	+	4	566	c.343C>T	c.(343-345)Cga>Tga	p.R115*	LGALS14_ENST00000360675.3_Nonsense_Mutation_p.R144*	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	115	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CTTTGCCCATCGATTCCCGCC	0.463																																						dbGAP											0													104.0	100.0	101.0					19																	40199876		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.343C>T	19.37:g.40199876C>T	ENSP00000375905:p.Arg115*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Nonsense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.R144*	ENST00000392052.3	37	c.430	CCDS46073.1	19	.	.	.	.	.	.	.	.	.	.	.	17.97	3.518906	0.64634	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	.	.	.	0.902	-0.238	0.13055	.	.	.	.	.	.	.	.	.	.	.	0.33686	D	0.612704	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1973	0.06637	0.0:0.6732:0.0:0.3268	.	.	.	.	X	115;144	.	ENSP00000353893:R144X	R	+	1	2	LGALS14	44891716	0.026000	0.19158	0.008000	0.14137	0.019000	0.09904	0.227000	0.17795	-0.046000	0.13446	0.313000	0.20887	CGA	LGALS14	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000006659		0.463	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS14	HGNC	protein_coding	OTTHUMT00000465222.1	57	0.00	0	C	NM_020129		40199876	40199876	+1	no_errors	ENST00000360675	ensembl	human	known	69_37n	nonsense	89	25.83	31	SNP	0.009	T
NELL1	4745	genome.wustl.edu	37	11	20699549	20699549	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr11:20699549C>T	ENST00000357134.5	+	2	279	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	NELL1_ENST00000298925.5_Missense_Mutation_p.L71F|NELL1_ENST00000532434.1_Missense_Mutation_p.L43F|NELL1_ENST00000325319.5_Missense_Mutation_p.L43F	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	43					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACACCACCCTTGGAGTTGC	0.502																																						dbGAP											0													173.0	158.0	163.0					11																	20699549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.127C>T	11.37:g.20699549C>T	ENSP00000349654:p.Leu43Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.L43F	ENST00000357134.5	37	c.127	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904093	0.52333	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.02216	4.39;4.39;4.39;4.39	6.11	-1.8	0.07907	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	1.302430	0.04918	N	0.454518	T	0.02230	0.0069	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.22746	0.001;0.0;0.074;0.0	B;B;B;B	0.27170	0.001;0.0;0.077;0.0	T	0.49244	-0.8960	10	0.48119	T	0.1	0.4777	0.4534	0.00505	0.3557:0.2232:0.2085:0.2126	.	43;71;43;43	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	F	71;43;43;43	ENSP00000298925:L71F;ENSP00000349654:L43F;ENSP00000317837:L43F;ENSP00000437170:L43F	ENSP00000298925:L71F	L	+	1	0	NELL1	20656125	0.000000	0.05858	0.179000	0.23059	0.957000	0.61999	0.153000	0.16323	-0.046000	0.13446	-0.181000	0.13052	CTT	NELL1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000165973		0.502	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	75	0.00	0	C	NM_006157		20699549	20699549	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	missense	41	43.06	31	SNP	0.002	T
NPAP1	23742	genome.wustl.edu	37	15	24922617	24922617	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr15:24922617G>A	ENST00000329468.2	+	1	2077	c.1603G>A	c.(1603-1605)Gtc>Atc	p.V535I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	535	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCTTCTTCCAGTCCCTTCCAC	0.522																																						dbGAP											0													189.0	189.0	189.0					15																	24922617		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1603G>A	15.37:g.24922617G>A	ENSP00000333735:p.Val535Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V535I	ENST00000329468.2	37	c.1603	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	12.22	1.873105	0.33069	.	.	ENSG00000185823	ENST00000329468	T	0.12039	2.72	1.9	1.9	0.25705	.	1.292040	0.05989	N	0.645712	T	0.09158	0.0226	N	0.22421	0.69	0.09310	N	1	P	0.50710	0.938	B	0.38156	0.266	T	0.27157	-1.0082	10	0.41790	T	0.15	.	7.2935	0.26380	0.0:0.0:1.0:0.0	.	535	Q9NZP6	CO002_HUMAN	I	535	ENSP00000333735:V535I	ENSP00000333735:V535I	V	+	1	0	C15orf2	22473710	0.000000	0.05858	0.001000	0.08648	0.569000	0.35902	-0.367000	0.07553	1.381000	0.46364	0.205000	0.17691	GTC	NPAP1	-	NULL	ENSG00000185823		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	60	0.00	0	G	NM_018958		24922617	24922617	+1	no_errors	ENST00000329468	ensembl	human	known	69_37n	missense	15	63.41	26	SNP	0.002	A
OCRL	4952	genome.wustl.edu	37	X	128722977	128722977	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chrX:128722977G>C	ENST00000371113.4	+	22	2621	c.2456G>C	c.(2455-2457)cGg>cCg	p.R819P	OCRL_ENST00000357121.5_Missense_Mutation_p.R811P	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	819	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TATGATCCCCGGATCTGCCGA	0.527																																						dbGAP											0													117.0	92.0	100.0					X																	128722977		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2456G>C	X.37:g.128722977G>C	ENSP00000360154:p.Arg819Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R819P	ENST00000371113.4	37	c.2456	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099767	0.37048	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.41065	1.01;1.01	5.82	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.174968	0.51477	D	0.000081	T	0.51907	0.1702	L	0.46157	1.445	0.80722	D	1	D;B	0.69078	0.997;0.03	D;B	0.63877	0.919;0.037	T	0.44205	-0.9343	10	0.30854	T	0.27	.	11.2694	0.49129	0.1:0.0:0.9:0.0	.	811;819	Q01968-2;Q01968	.;OCRL_HUMAN	P	819;811	ENSP00000360154:R819P;ENSP00000349635:R811P	ENSP00000349635:R811P	R	+	2	0	OCRL	128550658	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	7.202000	0.77856	1.038000	0.40049	0.600000	0.82982	CGG	OCRL	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000122126		0.527	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	71	0.00	0	G	NM_000276		128722977	128722977	+1	no_errors	ENST00000371113	ensembl	human	known	69_37n	missense	38	42.42	28	SNP	1.000	C
PEX5L	51555	genome.wustl.edu	37	3	179605499	179605499	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr3:179605499G>A	ENST00000467460.1	-	4	602	c.272C>T	c.(271-273)tCg>tTg	p.S91L	PEX5L_ENST00000464614.1_Missense_Mutation_p.S48L|PEX5L_ENST00000263962.8_Missense_Mutation_p.S89L|PEX5L_ENST00000485199.1_Missense_Mutation_p.S56L|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.S48L|PEX5L_ENST00000476138.1_Missense_Mutation_p.S48L|PEX5L_ENST00000465751.1_Missense_Mutation_p.S67L|PEX5L_ENST00000472994.1_Missense_Mutation_p.S32L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	91					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TATTGCTTCCGATTTGGTTTC	0.413																																						dbGAP											0													222.0	221.0	221.0					3																	179605499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.272C>T	3.37:g.179605499G>A	ENSP00000419975:p.Ser91Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S91L	ENST00000467460.1	37	c.272	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535814	0.64972	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.89875	-2.49;-2.49;-2.47;-2.58;-2.47;-2.47;-2.58;-2.47	5.62	5.62	0.85841	.	0.435118	0.25680	N	0.029011	D	0.83266	0.5217	N	0.19112	0.55	0.25133	N	0.990551	B;B;B;B;B;B	0.28128	0.031;0.031;0.102;0.201;0.165;0.031	B;B;B;B;B;B	0.27170	0.015;0.015;0.012;0.077;0.057;0.015	T	0.73100	-0.4089	10	0.40728	T	0.16	-5.4546	19.6685	0.95901	0.0:0.0:1.0:0.0	.	32;67;48;89;56;91	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	L	91;89;56;89;48;48;44;32;48;67;80;115	ENSP00000419975:S91L;ENSP00000263962:S89L;ENSP00000418440:S56L;ENSP00000376420:S48L;ENSP00000420555:S48L;ENSP00000418054:S32L;ENSP00000417270:S48L;ENSP00000419348:S67L	ENSP00000263962:S89L	S	-	2	0	PEX5L	181088193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.807000	0.75201	2.639000	0.89480	0.655000	0.94253	TCG	PEX5L	-	NULL	ENSG00000114757		0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	131	0.00	0	G	NM_016559		179605499	179605499	-1	no_errors	ENST00000467460	ensembl	human	known	69_37n	missense	79	19.19	19	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130833036	130833036	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr2:130833036T>C	ENST00000409914.2	-	17	2408	c.2009A>G	c.(2008-2010)cAg>cGg	p.Q670R	POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.Q670R|POTEF_ENST00000361163.4_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	670					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTCTCTTAGCTGGCTCTGATG	0.358																																						dbGAP											0													13.0	16.0	15.0					2																	130833036		1889	4026	5915	-	-	-	SO:0001583	missense	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2009A>G	2.37:g.130833036T>C	ENSP00000386786:p.Gln670Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q670R	ENST00000409914.2	37	c.2009	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	6.776	0.512202	0.12944	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.15372	2.43;2.43	0.842	0.842	0.18927	.	.	.	.	.	T	0.13243	0.0321	L	0.58428	1.81	0.09310	N	0.999999	B	0.31931	0.347	B	0.20955	0.032	T	0.29088	-1.0023	9	0.87932	D	0	.	2.8188	0.05465	0.0:0.3092:0.0:0.6907	.	670	A5A3E0	POTEF_HUMAN	R	670	ENSP00000350052:Q670R;ENSP00000386786:Q670R	ENSP00000350052:Q670R	Q	-	2	0	POTEF	130549506	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	0.742000	0.26216	0.620000	0.30215	0.155000	0.16302	CAG	POTEF	-	NULL	ENSG00000196604		0.358	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	47	0.00	0	T	NM_001099771		130833036	130833036	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	missense	12	66.67	26	SNP	0.067	C
SOX10	6663	genome.wustl.edu	37	22	38370136	38370136	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr22:38370136delG	ENST00000396884.2	-	4	1049	c.767delC	c.(766-768)ccgfs	p.P256fs	SOX10_ENST00000360880.2_Frame_Shift_Del_p.P256fs|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	256					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GTCCCGCTTCGGGTCTGCCTT	0.632																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	dbGAP											0													114.0	113.0	113.0					22																	38370136		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.767delC	22.37:g.38370136delG	ENSP00000380093:p.Pro256fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV62|Q6FHW7	Frame_Shift_Del	DEL	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P256fs	ENST00000396884.2	37	c.767	CCDS13964.1	22																																																																																			SOX10	-	NULL	ENSG00000100146		0.632	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	24	0.00	0	G	NM_006941		38370136	38370136	-1	no_errors	ENST00000360880	ensembl	human	known	69_37n	frame_shift_del	12	36.84	7	DEL	1.000	-
THAP10	56906	genome.wustl.edu	37	15	71184461	71184461	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr15:71184461A>T	ENST00000249861.4	-	1	663	c.151T>A	c.(151-153)Tcg>Acg	p.S51T	LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	51							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAGATGACCGAGCGGTCATTG	0.637																																						dbGAP											0													29.0	35.0	33.0					15																	71184461		2199	4297	6496	-	-	-	SO:0001583	missense	0			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.151T>A	15.37:g.71184461A>T	ENSP00000249861:p.Ser51Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R0	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S51T	ENST00000249861.4	37	c.151	CCDS10237.1	15	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253780	0.59212	.	.	ENSG00000129028	ENST00000249861	D	0.96365	-3.99	2.84	1.63	0.23807	Zinc finger, C2CH-type (4);	.	.	.	.	D	0.96247	0.8776	L	0.60957	1.885	0.09310	N	1	D	0.59767	0.986	D	0.68943	0.961	D	0.88938	0.3378	9	0.23891	T	0.37	.	5.5772	0.17231	0.7132:0.2868:0.0:0.0	.	51	Q9P2Z0	THA10_HUMAN	T	51	ENSP00000249861:S51T	ENSP00000249861:S51T	S	-	1	0	THAP10	68971515	0.771000	0.28555	0.020000	0.16555	0.982000	0.71751	0.943000	0.29030	0.175000	0.19841	0.533000	0.62120	TCG	THAP10	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000129028		0.637	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP10	HGNC	protein_coding	OTTHUMT00000257242.2	21	0.00	0	A	NM_020147		71184461	71184461	-1	no_errors	ENST00000249861	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.275	T
TMEM17	200728	genome.wustl.edu	37	2	62729608	62729608	+	Silent	SNP	C	C	T			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr2:62729608C>T	ENST00000335390.5	-	3	493	c.282G>A	c.(280-282)cgG>cgA	p.R94R		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	94					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			CCAGATACAACCGGATGGCTT	0.348																																						dbGAP											0													100.0	99.0	99.0					2																	62729608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.282G>A	2.37:g.62729608C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP7|Q53R98	Silent	SNP	pfam_Uncharacterised_TM-17	p.R94	ENST00000335390.5	37	c.282	CCDS1871.1	2																																																																																			TMEM17	-	pfam_Uncharacterised_TM-17	ENSG00000186889		0.348	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM17	HGNC	protein_coding	OTTHUMT00000251618.3	79	0.00	0	C	NM_198276		62729608	62729608	-1	no_errors	ENST00000335390	ensembl	human	known	69_37n	silent	79	14.13	13	SNP	0.968	T
TNKS2	80351	genome.wustl.edu	37	10	93572900	93572900	+	Silent	SNP	A	A	G			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:93572900A>G	ENST00000371627.4	+	2	739	c.360A>G	c.(358-360)cgA>cgG	p.R120R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	120					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CCAATGCTCGAGATAATTGGA	0.403																																						dbGAP											0													121.0	109.0	113.0					10																	93572900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.360A>G	10.37:g.93572900A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.R120	ENST00000371627.4	37	c.360	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.403	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	83	0.00	0	A	NM_025235		93572900	93572900	+1	no_errors	ENST00000371627	ensembl	human	known	69_37n	silent	53	11.67	7	SNP	0.884	G
TP53	7157	genome.wustl.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-A7-A26I-01B-06D-A22N-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0467a2fb-339a-4bd6-b5a0-8359626bc9db	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)											50.0	44.0	46.0					17																	7577141		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G266E	ENST00000269305.4	37	c.797	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	131	0.00	0	C	NM_000546		7577141	7577141	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	64	42.34	47	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)											50.0	44.0	46.0					17																	7577141		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G266E	ENST00000269305.4	37	c.797	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	26	0.00	0	C	NM_000546		7577141	7577141	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	19	54.76	23	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179615822	179615822	+	Intron	SNP	T	T	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr2:179615822T>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I3769F|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCACAATACTCTCAGCT	0.343																																						dbGAP											0													106.0	108.0	107.0					2																	179615822		2202	4297	6499	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2028A>T	2.37:g.179615822T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I3769F	ENST00000591111.1	37	c.11305		2	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590805	0.46214	.	.	ENSG00000155657	ENST00000360870	T	0.64085	-0.08	5.47	-3.35	0.04928	.	.	.	.	.	T	0.36358	0.0964	N	0.14661	0.345	0.09310	N	1	P	0.42203	0.773	B	0.36186	0.219	T	0.25117	-1.0141	9	0.52906	T	0.07	.	6.257	0.20879	0.111:0.3347:0.0:0.5543	.	3769	Q8WZ42-6	.	F	3769	ENSP00000354117:I3769F	ENSP00000354117:I3769F	I	-	1	0	TTN	179324067	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.252000	0.08806	-0.765000	0.04645	-0.899000	0.02877	ATT	TTN	-	NULL	ENSG00000155657		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	59	0.00	0	T	NM_133378		179615822	179615822	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.000	A
ZNF185	7739	genome.wustl.edu	37	X	152128305	152128305	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chrX:152128305G>A	ENST00000370268.4	+	17	1506	c.1469G>A	c.(1468-1470)aGg>aAg	p.R490K	ZNF185_ENST00000539731.1_Missense_Mutation_p.R493K|ZNF185_ENST00000370270.2_Missense_Mutation_p.R522K|ZNF185_ENST00000449285.2_Missense_Mutation_p.R491K|ZNF185_ENST00000324823.6_Missense_Mutation_p.R258K|ZNF185_ENST00000318504.7_Missense_Mutation_p.R431K|ZNF185_ENST00000454925.1_Missense_Mutation_p.R128K|ZNF185_ENST00000535861.1_Missense_Mutation_p.R522K|ZNF185_ENST00000318529.8_Missense_Mutation_p.R269K			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	490						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAGGACAGGCCTGGAGCC	0.582																																						dbGAP											0													43.0	48.0	46.0					X																	152128305		1964	4123	6087	-	-	-	SO:0001583	missense	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1469G>A	X.37:g.152128305G>A	ENSP00000359291:p.Arg490Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.R522K	ENST00000370268.4	37	c.1565	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.287|1.287	-0.608786|-0.608786	0.03717|0.03717	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	.|T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01	3.68|3.68	-4.19|-4.19	0.03835|0.03835	.|.	.|1.342680	.|0.04855	.|N	.|0.443034	T|T	0.24586|0.24586	0.0596|0.0596	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B;B	.|0.19331	.|0.002;0.002;0.001;0.004;0.002;0.002;0.035;0.009;0.012	.|B;B;B;B;B;B;B;B;B	.|0.15052	.|0.003;0.003;0.001;0.003;0.003;0.003;0.012;0.006;0.004	T|T	0.15838|0.15838	-1.0423|-1.0423	5|10	.|0.13853	.|T	.|0.58	-3.1273|-3.1273	5.9413|5.9413	0.19194|0.19194	0.6109:0.0:0.2427:0.1464|0.6109:0.0:0.2427:0.1464	.|.	.|491;431;461;493;522;490;128;269;253	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	S|K	131|522;493;491;431;325;258;356;490;269;253;195	.|ENSP00000440847:R522K;ENSP00000444367:R493K;ENSP00000395228:R491K;ENSP00000312782:R431K;ENSP00000359291:R490K	.|ENSP00000312782:R431K	G|R	+|+	1|2	0|0	ZNF185|ZNF185	151878961|151878961	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-1.302000|-1.302000	0.02746|0.02746	-1.358000|-1.358000	0.02177|0.02177	0.529000|0.529000	0.55759|0.55759	GGC|AGG	ZNF185	-	NULL	ENSG00000147394		0.582	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	58	0.00	0	G	NM_007150		152128305	152128305	+1	no_errors	ENST00000535861	ensembl	human	known	69_37n	missense	56	11.11	7	SNP	0.000	A
ZNF37BP	100129482	genome.wustl.edu	37	10	43015552	43015552	+	RNA	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr10:43015552G>A	ENST00000452075.3	-	0	2042					NR_026777.1				zinc finger protein 37B, pseudogene																		AGTAAGGGTTGACTTCTCGGA	0.368																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015552G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.368	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	27	0.00	0	G	NR_026777		43015552	43015552	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	6	64.71	11	SNP	0.000	A
ZNF500	26048	genome.wustl.edu	37	16	4802807	4802807	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr16:4802807G>A	ENST00000219478.6	-	6	1312	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Missense_Mutation_p.S338F|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	338					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGTCAAGTGGGACGTCTTGCT	0.622																																						dbGAP											0													118.0	99.0	106.0					16																	4802807		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1013C>T	16.37:g.4802807G>A	ENSP00000219478:p.Ser338Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S338F	ENST00000219478.6	37	c.1013	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165208	0.57476	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07567	3.18;3.18	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	M	0.78456	2.415	0.24107	N	0.995859	P;P	0.41978	0.767;0.767	B;B	0.36922	0.236;0.236	T	0.11251	-1.0595	9	0.72032	D	0.01	.	13.7412	0.62849	0.0:0.0:1.0:0.0	.	338;338	B4DNN9;O60304	.;ZN500_HUMAN	F	338	ENSP00000445714:S338F;ENSP00000219478:S338F	ENSP00000219478:S338F	S	-	2	0	ZNF500	4742808	0.000000	0.05858	0.010000	0.14722	0.512000	0.34134	-0.020000	0.12525	1.816000	0.52996	0.655000	0.94253	TCC	ZNF500	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103199		0.622	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	53	0.00	0	G	XM_085507		4802807	4802807	-1	no_errors	ENST00000219478	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.622	A
ZNF681	148213	genome.wustl.edu	37	19	23927048	23927048	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26I-01A-11D-A167-09	TCGA-A7-A26I-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81fff2d1-d6ed-4963-a5f6-5899cde6b359	d4ad0739-04d5-4d68-a794-7fe9aa13ff38	g.chr19:23927048G>A	ENST00000402377.3	-	4	1445	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	ZNF681_ENST00000395385.3_Missense_Mutation_p.S366L	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTTTGAGGATTGGTT	0.373																																						dbGAP											0													65.0	68.0	67.0					19																	23927048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1304C>T	19.37:g.23927048G>A	ENSP00000384000:p.Ser435Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S435L	ENST00000402377.3	37	c.1304	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681558	0.29872	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07444	3.19;3.19	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	M	0.71296	2.17	0.09310	N	1	P	0.47034	0.889	B	0.38954	0.286	T	0.18840	-1.0324	9	0.87932	D	0	.	8.4797	0.33034	0.0:0.0:1.0:0.0	.	435	Q96N22	ZN681_HUMAN	L	435;366	ENSP00000384000:S435L;ENSP00000378783:S366L	ENSP00000378783:S366L	S	-	2	0	ZNF681	23718888	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	-0.089000	0.11180	0.798000	0.33994	0.313000	0.20887	TCA	ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196172		0.373	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	90	0.00	0	G	NM_138286		23927048	23927048	-1	no_errors	ENST00000402377	ensembl	human	known	69_37n	missense	23	58.18	32	SNP	0.000	A
