#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCG4	64137	genome.wustl.edu	37	11	119028976	119028976	+	Silent	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr11:119028976C>T	ENST00000449422.2	+	10	1289	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	ABCG4_ENST00000307417.3_Silent_p.A367A|AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Silent_p.A367A	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	367					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACACCTTTGCCACCAGCACCC	0.572																																						dbGAP											0													297.0	282.0	287.0					11																	119028976		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1101C>T	11.37:g.119028976C>T			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A367	ENST00000449422.2	37	c.1101	CCDS8415.1	11																																																																																			ABCG4	-	NULL	ENSG00000172350		0.572	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	57	0.00	0	C	NM_022169		119028976	119028976	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	silent	78	50.94	81	SNP	1.000	T
ALDH18A1	5832	genome.wustl.edu	37	10	97371060	97371060	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr10:97371060A>G	ENST00000371224.2	-	16	2200	c.2063T>C	c.(2062-2064)aTc>aCc	p.I688T	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.I686T	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	688	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		ATACTTGTGGATGTGGTCAAT	0.517																																						dbGAP											0													261.0	235.0	243.0					10																	97371060		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2063T>C	10.37:g.97371060A>G	ENSP00000360268:p.Ile688Thr		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.I688T	ENST00000371224.2	37	c.2063	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593932	0.86953	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.74632	-0.86;-0.86	5.6	5.6	0.85130	Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);Gamma-glutamyl phosphate reductase GPR, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90813	0.7115	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.93649	0.6971	10	0.87932	D	0	-19.3934	13.7332	0.62802	1.0:0.0:0.0:0.0	.	688;686	P54886;P54886-2	P5CS_HUMAN;.	T	688;686	ENSP00000360268:I688T;ENSP00000360265:I686T	ENSP00000360265:I686T	I	-	2	0	ALDH18A1	97361050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.820000	0.92003	2.132000	0.65825	0.533000	0.62120	ATC	ALDH18A1	-	superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.517	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	113	0.00	0	A	NM_002860		97371060	97371060	-1	no_errors	ENST00000371224	ensembl	human	known	69_37n	missense	174	43.69	135	SNP	1.000	G
ALG13	79868	genome.wustl.edu	37	X	110970225	110970225	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chrX:110970225G>A	ENST00000394780.3	+	16	1930	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	ALG13_ENST00000251943.4_Missense_Mutation_p.E536K|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	640					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TATGTCTAATGAACATTTTCA	0.493																																						dbGAP											0													177.0	148.0	157.0					X																	110970225		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1918G>A	X.37:g.110970225G>A	ENSP00000378260:p.Glu640Lys		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.E536K	ENST00000394780.3	37	c.1606	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222257	0.58560	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.57273	1.41;0.41	5.64	4.77	0.60923	.	0.424374	0.27696	N	0.018229	T	0.57548	0.2061	L	0.53249	1.67	0.27602	N	0.948924	P;B;P	0.49307	0.822;0.264;0.922	B;B;P	0.51355	0.269;0.049;0.667	T	0.55630	-0.8111	10	0.62326	D	0.03	-4.4675	11.2178	0.48835	0.0729:0.1252:0.8019:0.0	.	562;640;536	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	K	536;640;273	ENSP00000251943:E536K;ENSP00000378260:E640K	ENSP00000251943:E536K	E	+	1	0	ALG13	110856881	1.000000	0.71417	0.980000	0.43619	0.369000	0.29798	3.995000	0.57001	1.118000	0.41863	0.600000	0.82982	GAA	ALG13	-	NULL	ENSG00000101901		0.493	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	97	0.00	0	G	NM_018466		110970225	110970225	+1	no_errors	ENST00000251943	ensembl	human	known	69_37n	missense	127	30.22	55	SNP	0.999	A
ARID1A	8289	genome.wustl.edu	37	1	27106816	27106816	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:27106816C>T	ENST00000324856.7	+	20	6798	c.6427C>T	c.(6427-6429)Cgc>Tgc	p.R2143C	ARID1A_ENST00000540690.1_Missense_Mutation_p.R471C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1926C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1760C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2143				R -> H (in Ref. 9; AAK54505). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTTCAGCCGCCTGGAGAA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													81.0	84.0	83.0					1																	27106816		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6427C>T	1.37:g.27106816C>T	ENSP00000320485:p.Arg2143Cys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R2143C	ENST00000324856.7	37	c.6427	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.586968|2.586968	0.46110|0.46110	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.34859	.|1.34;1.34;1.34;1.34	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Armadillo-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65302|0.65302	0.2678|0.2678	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.999;0.998	T|T	0.70178|0.70178	-0.4943|-0.4943	5|10	.|0.87932	.|D	.|0	-6.0451|-6.0451	18.8325|18.8325	0.92145|0.92145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1760;2143;1926	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	L|C	1039|2143;1926;1760;471	.|ENSP00000320485:R2143C;ENSP00000387636:R1926C;ENSP00000363267:R1760C;ENSP00000442437:R471C	.|ENSP00000320485:R2143C	P|R	+|+	2|1	0|0	ARID1A|ARID1A	26979403|26979403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.338000|4.338000	0.59316|0.59316	2.767000|2.767000	0.95098|0.95098	0.585000|0.585000	0.79938|0.79938	CCG|CGC	ARID1A	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000117713		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	69	0.00	0	C	NM_139135		27106816	27106816	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	94	11.32	12	SNP	1.000	T
ASPM	259266	genome.wustl.edu	37	1	197056085	197056085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:197056085delG	ENST00000367409.4	-	27	10435	c.10179delC	c.(10177-10179)tccfs	p.S3393fs	ASPM_ENST00000367408.1_Frame_Shift_Del_p.S1058fs|ASPM_ENST00000294732.7_Frame_Shift_Del_p.S1808fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3393					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAACAACTTTGGACCTACTTC	0.269																																						dbGAP											0													63.0	64.0	64.0					1																	197056085		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10179delC	1.37:g.197056085delG	ENSP00000356379:p.Ser3393fs		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.V3395fs	ENST00000367409.4	37	c.10179	CCDS1389.1	1																																																																																			ASPM	-	NULL	ENSG00000066279		0.269	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	222	0.00	0	G	NM_018136		197056085	197056085	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	frame_shift_del	43	20.37	11	DEL	0.998	-
ATG2A	23130	genome.wustl.edu	37	11	64668490	64668490	+	Silent	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr11:64668490C>T	ENST00000377264.3	-	30	4306	c.4194G>A	c.(4192-4194)cgG>cgA	p.R1398R	ATG2A_ENST00000421419.2_Silent_p.R1400R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1398					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGCCGATCGGCCGTGAGAAGT	0.647											OREG0004028	type=REGULATORY REGION|Gene=BC008593|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													27.0	22.0	24.0					11																	64668490		2193	4292	6485	-	-	-	SO:0001819	synonymous_variant	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4194G>A	11.37:g.64668490C>T		1078	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A1202T	ENST00000377264.3	37	c.3604	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	4.136	0.023630	0.08006	.	.	ENSG00000110046	ENST00000418259	.	.	.	5.14	0.875	0.19130	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	.	1.8372	0.03142	0.1521:0.3791:0.2949:0.1738	.	.	.	.	T	1202	.	.	A	-	1	0	ATG2A	64425066	0.995000	0.38212	0.873000	0.34254	0.266000	0.26442	0.554000	0.23407	0.664000	0.31047	0.561000	0.74099	GCC	ATG2A	-	NULL	ENSG00000110046		0.647	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	28	0.00	0	C	NM_015104		64668490	64668490	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418259	ensembl	human	novel	69_37n	missense	28	17.65	6	SNP	1.000	T
BATF2	116071	genome.wustl.edu	37	11	64756807	64756807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr11:64756807G>A	ENST00000301887.4	-	3	749	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	BATF2_ENST00000527716.1_Nonsense_Mutation_p.Q183*|BATF2_ENST00000435842.2_Nonsense_Mutation_p.Q122*	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	207					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TCGAGGGGCTGTGGAGGGGCA	0.652																																						dbGAP											0													36.0	37.0	37.0					11																	64756807		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"""basic leucine zipper proteins"""	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.619C>T	11.37:g.64756807G>A	ENSP00000301887:p.Gln207*		D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Nonsense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.Q207*	ENST00000301887.4	37	c.619	CCDS8087.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984350	0.74474	.	.	ENSG00000168062	ENST00000301887;ENST00000435842;ENST00000527716	.	.	.	4.3	3.37	0.38596	.	0.255835	0.25032	N	0.033669	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.5649	10.2561	0.43399	0.0:0.2013:0.7987:0.0	.	.	.	.	X	207;122;183	.	ENSP00000301887:Q207X	Q	-	1	0	BATF2	64513383	0.979000	0.34478	0.710000	0.30468	0.294000	0.27393	1.981000	0.40628	1.176000	0.42840	0.555000	0.69702	CAG	BATF2	-	NULL	ENSG00000168062		0.652	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF2	HGNC	protein_coding	OTTHUMT00000385478.2	52	0.00	0	G	NM_138456		64756807	64756807	-1	no_errors	ENST00000301887	ensembl	human	known	69_37n	nonsense	90	18.92	21	SNP	0.602	A
BSG	682	genome.wustl.edu	37	19	580426	580426	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr19:580426C>T	ENST00000333511.3	+	4	690	c.620C>T	c.(619-621)cCc>cTc	p.P207L	BSG_ENST00000545507.2_5'UTR|BSG_ENST00000346916.4_Missense_Mutation_p.P27L|BSG_ENST00000353555.4_Missense_Mutation_p.P91L	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	207	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTCCTCCCCGAGCCCATG	0.657																																						dbGAP											0													72.0	60.0	64.0					19																	580426		2202	4299	6501	-	-	-	SO:0001583	missense	0			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.620C>T	19.37:g.580426C>T	ENSP00000333769:p.Pro207Leu		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P207L	ENST00000333511.3	37	c.620	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665133	0.47677	.	.	ENSG00000172270	ENST00000346916;ENST00000333511;ENST00000353555	T;T;T	0.60548	2.4;0.18;3.0	3.67	2.62	0.31277	.	0.123240	0.52532	D	0.000076	T	0.69833	0.3155	M	0.79475	2.455	0.23841	N	0.996691	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.999	D;D;D;D;P	0.70487	0.948;0.933;0.969;0.933;0.88	T	0.57969	-0.7719	10	0.48119	T	0.1	-27.9594	6.4911	0.22115	0.0:0.7665:0.0:0.2335	.	91;207;91;207;27	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	L	27;207;91	ENSP00000344707:P27L;ENSP00000333769:P207L;ENSP00000343809:P91L	ENSP00000333769:P207L	P	+	2	0	BSG	531426	0.087000	0.21565	0.273000	0.24645	0.049000	0.14656	4.621000	0.61233	0.862000	0.35528	0.561000	0.74099	CCC	BSG	-	NULL	ENSG00000172270		0.657	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	23	0.00	0	C	NM_001728		580426	580426	+1	no_errors	ENST00000333511	ensembl	human	known	69_37n	missense	73	23.96	23	SNP	0.164	T
CCDC172	374355	genome.wustl.edu	37	10	118101618	118101618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr10:118101618delA	ENST00000333254.3	+	5	604	c.353delA	c.(352-354)gatfs	p.D118fs	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	118																	TTTAATAATGATTATGAAATA	0.269																																						dbGAP											0													33.0	38.0	36.0					10																	118101618		2174	4246	6420	-	-	-	SO:0001589	frameshift_variant	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.353delA	10.37:g.118101618delA	ENSP00000329860:p.Asp118fs			Frame_Shift_Del	DEL	NULL	p.D118fs	ENST00000333254.3	37	c.353	CCDS31291.1	10																																																																																			CCDC172	-	NULL	ENSG00000182645		0.269	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	HGNC	protein_coding	OTTHUMT00000050516.2	41	0.00	0	A	NM_198515		118101618	118101618	+1	no_errors	ENST00000333254	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.998	-
COPS7B	64708	genome.wustl.edu	37	2	232653392	232653392	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr2:232653392C>T	ENST00000350033.3	+	2	253	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	COPS7B_ENST00000373608.3_Missense_Mutation_p.P38S|COPS7B_ENST00000410024.1_Missense_Mutation_p.P38S|COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410017.1_Missense_Mutation_p.P38S	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	38					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTTAGAGGCTCCCGGAGTGTA	0.463																																						dbGAP											0													78.0	80.0	79.0					2																	232653392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.112C>T	2.37:g.232653392C>T	ENSP00000272995:p.Pro38Ser		Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.P38S	ENST00000350033.3	37	c.112	CCDS2488.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304098	0.81136	.	.	ENSG00000144524	ENST00000410024;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608	T;T;T;T	0.57907	0.42;0.42;0.4;0.37	5.06	5.06	0.68205	.	0.053663	0.85682	D	0.000000	T	0.73885	0.3644	M	0.78344	2.41	0.80722	D	1	P;D	0.89917	0.754;1.0	P;D	0.80764	0.493;0.994	T	0.75706	-0.3224	10	0.52906	T	0.07	-11.5118	18.6105	0.91283	0.0:1.0:0.0:0.0	.	38;38	Q9H9Q2-3;Q9H9Q2	.;CSN7B_HUMAN	S	38	ENSP00000386567:P38S;ENSP00000272995:P38S;ENSP00000386880:P38S;ENSP00000362710:P38S	ENSP00000272995:P38S	P	+	1	0	COPS7B	232361636	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.996000	0.76263	2.612000	0.88384	0.563000	0.77884	CCC	COPS7B	-	NULL	ENSG00000144524		0.463	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS7B	HGNC	protein_coding	OTTHUMT00000256964.2	131	0.00	0	C	NM_022730		232653392	232653392	+1	no_errors	ENST00000350033	ensembl	human	known	69_37n	missense	85	33.59	43	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17275337	17275337	+	Missense_Mutation	SNP	C	C	T	rs143866013	byFrequency	TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:17275337C>T	ENST00000375541.5	+	19	2821	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.R918W(2)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGAGGTGCAACGGCAGCTGGC	0.677																																						dbGAP											2	Substitution - Missense(2)	skin(2)											38.0	43.0	41.0					1																	17275337		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2752C>T	1.37:g.17275337C>T	ENSP00000364691:p.Arg918Trp			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R918W	ENST00000375541.5	37	c.2752	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216169	0.58452	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.23552	1.9	4.38	2.36	0.29203	.	.	.	.	.	T	0.39886	0.1095	L	0.50333	1.59	0.34311	D	0.68543	D;D	0.76494	0.999;0.999	D;D	0.63488	0.915;0.915	T	0.53143	-0.8480	9	0.72032	D	0.01	.	10.9364	0.47247	0.41:0.59:0.0:0.0	.	221;918	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	W	918;799	ENSP00000364691:R918W	ENSP00000364691:R918W	R	+	1	2	CROCC	17147924	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.205000	0.32308	0.452000	0.26830	0.557000	0.71058	CGG	CROCC	-	NULL	ENSG00000058453		0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	28	0.00	0	C	NM_014675		17275337	17275337	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	1.000	T
CYFIP1	23191	genome.wustl.edu	37	15	22947066	22947066	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr15:22947066G>A	ENST00000313077.7	+	13	1464	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E447K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CACCAGCGAGGAGAAGTTTGC	0.552																																						dbGAP											0													138.0	117.0	124.0					15																	22947066		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1339G>A	15.37:g.22947066G>A	ENSP00000324549:p.Glu447Lys			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.E447K	ENST00000313077.7	37	c.1339	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.780339	0.96929	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.27402	1.67	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.90650	3.135	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.76071	0.987;0.975	T	0.72520	-0.4268	10	0.87932	D	0	-36.9293	18.3595	0.90370	0.0:0.0:1.0:0.0	.	475;447	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	447;475	ENSP00000324549:E447K	ENSP00000324549:E447K	E	+	1	0	CYFIP1	20498507	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.598000	0.98277	2.575000	0.86900	0.655000	0.94253	GAG	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000068793		0.552	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	76	0.00	0	G	NM_014608		22947066	22947066	+1	no_errors	ENST00000313077	ensembl	human	known	69_37n	missense	195	29.09	80	SNP	1.000	A
DNAH17	8632	genome.wustl.edu	37	17	76433854	76433854	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr17:76433854C>T	ENST00000585328.1	-	74	12011	c.11887G>A	c.(11887-11889)Gcg>Acg	p.A3963T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3962T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3962	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGGCTCCGCGCTGATGAAC	0.632																																						dbGAP											0													55.0	54.0	54.0					17																	76433854		2203	4297	6500	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11887G>A	17.37:g.76433854C>T	ENSP00000465516:p.Ala3963Thr		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.A3962T	ENST00000585328.1	37	c.11884		17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251743	0.80135	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.11169	2.8	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000022	T	0.29028	0.0721	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00747	-1.1583	10	0.40728	T	0.16	.	18.445	0.90681	0.0:1.0:0.0:0.0	.	3963	E7EUM8	.	T	3963;3962	ENSP00000374490:A3962T	ENSP00000300671:A3963T	A	-	1	0	DNAH17	73945449	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	5.975000	0.70475	2.355000	0.79922	0.561000	0.74099	GCG	DNAH17	-	pfam_Dynein_heavy	ENSG00000187775		0.632	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	47	0.00	0	C	NM_173628		76433854	76433854	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	74	30.84	33	SNP	1.000	T
DSPP	1834	genome.wustl.edu	37	4	88537153	88537153	+	Silent	SNP	T	T	C	rs373236680	byFrequency	TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr4:88537153T>C	ENST00000282478.7	+	4	3372	c.3339T>C	c.(3337-3339)gaT>gaC	p.D1113D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1113D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1113	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgatagcagtgaca	0.537													T|||	1372	0.273962	0.2345	0.2781	5008	,	,		14156	0.2937		0.3141	False		,,,				2504	0.2628					dbGAP											0													17.0	22.0	21.0					4																	88537153		1257	2358	3615	-	-	-	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3339T>C	4.37:g.88537153T>C			A8MUI0|O95815	Silent	SNP	NULL	p.D1113	ENST00000282478.7	37	c.3339	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	41	0.00	0	T	NM_014208		88537153	88537153	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	silent	182	18.75	42	SNP	0.480	C
MT-ND1	4535	genome.wustl.edu	37	M	1273	1273	+	5'Flank	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chrM:1273G>A	ENST00000361390.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGCCATCTTCAGCAAACCCT	0.493																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1273G>A	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.24	-	-	ENSG00000211459		0.493	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		31	0.00	0	G	YP_003024026		1273	1273	+1	no_errors	ENST00000389680	ensembl	human	known	69_37n	rna	17	52.78	19	SNP	NULL	A
EPPK1	83481	genome.wustl.edu	37	8	144947299	144947299	+	Silent	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr8:144947299C>T	ENST00000525985.1	-	2	194	c.123G>A	c.(121-123)agG>agA	p.R41R				P58107	EPIPL_HUMAN	epiplakin 1	41						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTATGCTCCTGGCCTGGG	0.701																																						dbGAP											0													20.0	27.0	24.0					8																	144947299		2069	4196	6265	-	-	-	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.123G>A	8.37:g.144947299C>T			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R41	ENST00000525985.1	37	c.123		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	12	0.00	0	C	NM_031308		144947299	144947299	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	silent	40	21.57	11	SNP	0.746	T
FBXW7	55294	genome.wustl.edu	37	4	153253808	153253808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr4:153253808delG	ENST00000281708.4	-	6	2154	c.925delC	c.(925-927)cgcfs	p.R309fs	FBXW7_ENST00000263981.5_Frame_Shift_Del_p.R229fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.R309fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.R191fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.R309fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.R133fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	309	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCCAGTAGCGACATGTCTGA	0.383			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	dbGAP		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											71.0	72.0	72.0					4																	153253808		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.925delC	4.37:g.153253808delG	ENSP00000281708:p.Arg309fs		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R309fs	ENST00000281708.4	37	c.925	CCDS3777.1	4																																																																																			FBXW7	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	ENSG00000109670		0.383	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	100	0.00	0	G			153253808	153253808	-1	no_errors	ENST00000281708	ensembl	human	known	69_37n	frame_shift_del	79	25.93	28	DEL	1.000	-
GPATCH8	23131	genome.wustl.edu	37	17	42477336	42477336	+	Silent	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr17:42477336C>T	ENST00000591680.1	-	8	2139	c.2109G>A	c.(2107-2109)gaG>gaA	p.E703E	GPATCH8_ENST00000434000.1_Silent_p.E625E	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	703	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCTCCCCTGACTCTGCCTTAG	0.458																																						dbGAP											0													263.0	264.0	264.0					17																	42477336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2109G>A	17.37:g.42477336C>T			B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.E703	ENST00000591680.1	37	c.2109	CCDS32666.1	17																																																																																			GPATCH8	-	NULL	ENSG00000186566		0.458	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	290	0.00	0	C	NM_001002909		42477336	42477336	-1	no_errors	ENST00000591680	ensembl	human	known	69_37n	silent	100	49.49	98	SNP	0.813	T
HRNR	388697	genome.wustl.edu	37	1	152185800	152185801	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:152185800_152185801delAC	ENST00000368801.2	-	3	8379_8380	c.8304_8305delGT	c.(8302-8307)cagtctfs	p.QS2768fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2768					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTAAGAGACTGGCCAGATC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8304_8305delGT	1.37:g.152185800_152185801delAC	ENSP00000357791:p.Gln2768fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Q2768fs	ENST00000368801.2	37	c.8305_8304	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.599	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	8	0.00	0	AC	XM_373868		152185800	152185801	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.000:0.000	-
KCNG4	93107	genome.wustl.edu	37	16	84270972	84270972	+	Silent	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr16:84270972G>A	ENST00000308251.4	-	2	188	c.120C>T	c.(118-120)taC>taT	p.Y40Y	KCNG4_ENST00000568181.1_Silent_p.Y40Y	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	40					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCCTCCGGTAGTAAAGGCCCT	0.632																																						dbGAP											0													37.0	38.0	38.0					16																	84270972		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.120C>T	16.37:g.84270972G>A			Q96H24	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.Y40	ENST00000308251.4	37	c.120	CCDS10945.1	16																																																																																			KCNG4	-	NULL	ENSG00000168418		0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	HGNC	protein_coding	OTTHUMT00000269079.2	33	0.00	0	G	NM_172347		84270972	84270972	-1	no_errors	ENST00000308251	ensembl	human	known	69_37n	silent	44	29.03	18	SNP	1.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62045493	62045493	+	Missense_Mutation	SNP	A	A	G	rs118192230		TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr20:62045493A>G	ENST00000359125.2	-	14	1753	c.1579T>C	c.(1579-1581)Ttt>Ctt	p.F527L	KCNQ2_ENST00000359689.1_Missense_Mutation_p.F527L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.F499L|KCNQ2_ENST00000354587.3_Missense_Mutation_p.F499L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.F509L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.F496L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F499L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	527					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCGGTCACAAACTCGCAGGGG	0.682																																						dbGAP											0													57.0	62.0	60.0					20																	62045493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1579T>C	20.37:g.62045493A>G	ENSP00000352035:p.Phe527Leu		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F499L	ENST00000359125.2	37	c.1495	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278381	0.59758	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06	5.37	5.37	0.77165	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	L	0.31926	0.97	0.49299	D	0.999776	D;D;P;D	0.89917	0.999;0.999;0.896;1.0	D;D;B;D	0.83275	0.994;0.994;0.425;0.996	D	0.99863	1.1086	10	0.14656	T	0.56	-3.5787	15.3666	0.74526	1.0:0.0:0.0:0.0	.	499;509;496;527	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	L	509;527;497;499;527;496;499;487;499;499	ENSP00000349789:F509L;ENSP00000352035:F527L;ENSP00000359246:F497L;ENSP00000346601:F499L;ENSP00000352718:F527L;ENSP00000399612:F496L;ENSP00000353668:F499L;ENSP00000339611:F487L;ENSP00000359244:F499L;ENSP00000359242:F499L	ENSP00000339611:F487L	F	-	1	0	KCNQ2	61515937	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	6.922000	0.75811	2.037000	0.60232	0.460000	0.39030	TTT	KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000075043		0.682	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	76	0.00	0	A	NM_172109		62045493	62045493	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	missense	113	28.93	46	SNP	1.000	G
KCTD3	51133	genome.wustl.edu	37	1	215753269	215753269	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:215753269C>G	ENST00000259154.4	+	8	847	c.553C>G	c.(553-555)Cga>Gga	p.R185G		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	185					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGTGGATCCACGAAAGGTGCT	0.413																																						dbGAP											0													128.0	123.0	125.0					1																	215753269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.553C>G	1.37:g.215753269C>G	ENSP00000259154:p.Arg185Gly		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.R185G	ENST00000259154.4	37	c.553	CCDS1515.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.72|13.72	2.321193|2.321193	0.41096|0.41096	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366945|ENST00000448333	T|.	0.38240|.	1.15|.	5.49|5.49	3.52|3.52	0.40303|0.40303	.|.	0.221869|.	0.44097|.	D|.	0.000497|.	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.12887|0.12887	0.27|0.27	0.47737|0.47737	D|D	0.999509|0.999509	B;B|.	0.16396|.	0.017;0.004|.	B;B|.	0.16722|.	0.016;0.006|.	T|T	0.09357|0.09357	-1.0678|-1.0678	10|5	0.25751|.	T|.	0.34|.	-12.715|-12.715	12.2755|12.2755	0.54733|0.54733	0.4507:0.5492:0.0:0.0|0.4507:0.5492:0.0:0.0	.|.	185;185|.	Q9Y597-2;Q9Y597|.	.;KCTD3_HUMAN|.	G|R	185|157	ENSP00000259154:R185G|.	ENSP00000259154:R185G|.	R|T	+|+	1|2	2|0	KCTD3|KCTD3	213819892|213819892	0.929000|0.929000	0.31497|0.31497	0.989000|0.989000	0.46669|0.46669	0.998000|0.998000	0.95712|0.95712	1.937000|1.937000	0.40193|0.40193	0.593000|0.593000	0.29745|0.29745	0.563000|0.563000	0.77884|0.77884	CGA|ACG	KCTD3	-	NULL	ENSG00000136636		0.413	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	256	0.00	0	C	NM_016121		215753269	215753269	+1	no_errors	ENST00000259154	ensembl	human	known	69_37n	missense	191	36.96	112	SNP	0.996	G
KIF20B	9585	genome.wustl.edu	37	10	91483856	91483856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr10:91483856delT	ENST00000371728.3	+	14	1923	c.1858delT	c.(1858-1860)tttfs	p.F620fs	KIF20B_ENST00000260753.4_Frame_Shift_Del_p.F620fs|KIF20B_ENST00000394289.2_Frame_Shift_Del_p.F620fs|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.F620fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	620					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGAAGCTGACTTTAAGTAAGT	0.274																																						dbGAP											0													74.0	86.0	82.0					10																	91483856		2199	4297	6496	-	-	-	SO:0001589	frameshift_variant	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1858delT	10.37:g.91483856delT	ENSP00000360793:p.Phe620fs		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F620fs	ENST00000371728.3	37	c.1858		10																																																																																			KIF20B	-	NULL	ENSG00000138182		0.274	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	86	0.00	0	T	NM_016195		91483856	91483856	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
LRIT3	345193	genome.wustl.edu	37	4	110789053	110789053	+	Silent	SNP	C	C	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr4:110789053C>A	ENST00000594814.1	+	3	846	c.846C>A	c.(844-846)acC>acA	p.T282T	LRIT3_ENST00000327908.3_Silent_p.T99T|LRIT3_ENST00000409621.2_Silent_p.T99T|LRIT3_ENST00000379920.3_Silent_p.T237T	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	282	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCTTCCCCACCCCACAGATCA	0.463																																						dbGAP											0													98.0	92.0	94.0					4																	110789053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.846C>A	4.37:g.110789053C>A			C9J1C2|Q6ZTG1	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T237	ENST00000594814.1	37	c.711	CCDS3688.3	4																																																																																			LRIT3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000183423		0.463	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	91	0.00	0	C	NM_198506		110789053	110789053	+1	no_errors	ENST00000379920	ensembl	human	known	69_37n	silent	98	42.01	71	SNP	0.971	A
LRRC4B	94030	genome.wustl.edu	37	19	51022151	51022151	+	Missense_Mutation	SNP	G	G	T	rs375425950		TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr19:51022151G>T	ENST00000599957.1	-	3	1016	c.819C>A	c.(817-819)ttC>ttA	p.F273L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.F273L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	273					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTCGTCGAAGGCGTTGC	0.662																																						dbGAP											0													70.0	82.0	78.0					19																	51022151		2182	4275	6457	-	-	-	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.819C>A	19.37:g.51022151G>T	ENSP00000471502:p.Phe273Leu		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F273L	ENST00000599957.1	37	c.819	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744185	0.49151	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.67698	-0.28	4.05	3.01	0.34805	.	0.000000	0.85682	U	0.000000	T	0.77260	0.4104	M	0.70903	2.155	0.50632	D	0.999883	D	0.89917	1.0	D	0.74348	0.983	T	0.77091	-0.2716	10	0.52906	T	0.07	.	9.7863	0.40677	0.1027:0.0:0.8973:0.0	.	273	Q9NT99	LRC4B_HUMAN	L	273	ENSP00000373853:F273L	ENSP00000373853:F273L	F	-	3	2	LRRC4B	55713963	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.399000	0.34566	1.069000	0.40788	-0.258000	0.10820	TTC	LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000131409		0.662	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	46	0.00	0	G	NM_001080457		51022151	51022151	-1	no_errors	ENST00000389201	ensembl	human	known	69_37n	missense	103	31.79	48	SNP	1.000	T
MT-CO2	4513	genome.wustl.edu	37	M	7837	7837	+	Silent	SNP	T	T	C			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chrM:7837T>C	ENST00000361739.1	+	1	252	c.252T>C	c.(250-252)ctT>ctC	p.L84L	MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	84					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						CTACGCATCCTTTACATAACA	0.493																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.252T>C	M.37:g.7837T>C			Q37526	Silent	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,prints_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.L84	ENST00000361739.1	37	c.252		MT																																																																																			MT-CO2	-	superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,prints_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	ENSG00000198712		0.493	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		22	0.00	0	T	YP_003024029		7837	7837	+1	no_errors	ENST00000361739	ensembl	human	known	69_37n	silent	30	36.17	17	SNP	NULL	C
MT-ATP6	4508	genome.wustl.edu	37	M	9189	9189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chrM:9189C>A	ENST00000361899.2	+	1	663	c.663C>A	c.(661-663)taC>taA	p.Y221*	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	221					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						GTAAGCCTCTACCTGCACGAC	0.448																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.663C>A	M.37:g.9189C>A	ENSP00000354632:p.Tyr221*		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Nonsense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.Y221*	ENST00000361899.2	37	c.663		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	ENSG00000198899		0.448	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		23	0.00	0	C	YP_003024031		9189	9189	+1	no_errors	ENST00000361899	ensembl	human	known	69_37n	nonsense	45	23.73	14	SNP	NULL	A
MT-ND6	4541	genome.wustl.edu	37	M	14494	14494	+	Silent	SNP	T	T	C			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chrM:14494T>C	ENST00000361681.2	-	1	179	c.180A>G	c.(178-180)ttA>ttG	p.L60L	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	60			L -> S (in LHON; possible rare primary mutation). {ECO:0000269|PubMed:11133798}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ATCATTCCCCCTAAATAAATT	0.423																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.180A>G	M.37:g.14494T>C			Q34774|Q8HG30	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.L60	ENST00000361681.2	37	c.180		MT																																																																																			MT-ND6	-	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	ENSG00000198695		0.423	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	HGNC	protein_coding		210	0.00	0	T	YP_003024037		14494	14494	-1	no_errors	ENST00000361681	ensembl	human	known	69_37n	silent	17	15.00	3	SNP	NULL	C
MUC12	10071	genome.wustl.edu	37	7	100637074	100637074	+	Missense_Mutation	SNP	G	G	A	rs200730762	byFrequency	TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr7:100637074G>A	ENST00000379442.3	+	5	3659	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	MUC12_ENST00000536621.1_Missense_Mutation_p.R1077H			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1220	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACAACCTCACGCATCAGTCCA	0.512													g|||	147	0.029353	0.0121	0.0389	5008	,	,		29769	0.0109		0.0209	False		,,,				2504	0.0736					dbGAP											0													9.0	8.0	8.0					7																	100637074		555	1239	1794	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.3659G>A	7.37:g.100637074G>A	ENSP00000368755:p.Arg1220His		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R1220H	ENST00000379442.3	37	c.3659		7	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155707	0.01686	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13657	2.57;2.57	0.713	-1.43	0.08884	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.33369	-0.9871	7	0.40728	T	0.16	.	3.6003	0.08021	0.0:0.2214:0.4862:0.2924	.	.	.	.	H	1220;1077	ENSP00000368755:R1220H;ENSP00000441929:R1077H	ENSP00000368755:R1220H	R	+	2	0	MUC12	100423794	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.324000	0.00512	-1.374000	0.02131	-1.406000	0.01132	CGC	MUC12	-	NULL	ENSG00000205277		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	23	0.00	0	G	XM_379904		100637074	100637074	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	154	14.92	27	SNP	0.000	A
MUC12	10071	genome.wustl.edu	37	7	100639210	100639211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr7:100639210_100639211insA	ENST00000379442.3	+	5	5795_5796	c.5795_5796insA	c.(5794-5799)acagctfs	p.A1933fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.A1790fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1933	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAAAGCTCCACAGCTTCAGGTC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.5796dupA	7.37:g.100639211_100639211dupA	ENSP00000368755:p.Ala1933fs		A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.A1933fs	ENST00000379442.3	37	c.5795_5796		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.525	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	48	0.00	0	-	XM_379904		100639210	100639211	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	6	45.45	5	INS	0.000:0.000	A
MUC12	10071	genome.wustl.edu	37	7	100639217	100639217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr7:100639217delA	ENST00000379442.3	+	5	5802	c.5802delA	c.(5800-5802)tcafs	p.S1934fs	MUC12_ENST00000536621.1_Frame_Shift_Del_p.S1791fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1934	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCACAGCTTCAGGTCGTAGTG	0.522																																						dbGAP											0													1.0	1.0	1.0					7																	100639217		450	1049	1499	-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.5802delA	7.37:g.100639217delA	ENSP00000368755:p.Ser1934fs		A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Del	DEL	pfam_SEA	p.G1935fs	ENST00000379442.3	37	c.5802		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.522	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	42	0.00	0	A	XM_379904		100639217	100639217	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_del	6	45.45	5	DEL	0.001	-
NUSAP1	51203	genome.wustl.edu	37	15	41669445	41669445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr15:41669445delA	ENST00000559596.1	+	10	1262	c.1175delA	c.(1174-1176)catfs	p.H392fs	NUSAP1_ENST00000260359.6_Frame_Shift_Del_p.H377fs|NUSAP1_ENST00000560177.1_Frame_Shift_Del_p.H391fs|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Frame_Shift_Del_p.H391fs|NUSAP1_ENST00000560747.1_Frame_Shift_Del_p.H390fs|NUSAP1_ENST00000450592.2_Frame_Shift_Del_p.H329fs|NUSAP1_ENST00000450318.1_Frame_Shift_Del_p.H353fs			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	392					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CTAAATCAACATGTCAACAGA	0.279																																						dbGAP											0													26.0	24.0	25.0					15																	41669445		1778	4029	5807	-	-	-	SO:0001589	frameshift_variant	0			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.1175delA	15.37:g.41669445delA	ENSP00000453403:p.His392fs		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Frame_Shift_Del	DEL	NULL	p.H392fs	ENST00000559596.1	37	c.1175	CCDS45234.1	15																																																																																			NUSAP1	-	NULL	ENSG00000137804		0.279	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	55	0.00	0	A	NM_016359		41669445	41669445	+1	no_errors	ENST00000559596	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.004	-
PDE6C	5146	genome.wustl.edu	37	10	95394645	95394645	+	Missense_Mutation	SNP	A	A	C			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr10:95394645A>C	ENST00000371447.3	+	9	1388	c.1250A>C	c.(1249-1251)cAt>cCt	p.H417P		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	417	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TTCGATGAGCATGATGAATAC	0.358																																						dbGAP											0													122.0	100.0	108.0					10																	95394645		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1250A>C	10.37:g.95394645A>C	ENSP00000360502:p.His417Pro		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.H417P	ENST00000371447.3	37	c.1250	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219322	0.39201	.	.	ENSG00000095464	ENST00000371447	T	0.66460	-0.21	4.87	4.87	0.63330	GAF (2);	0.318412	0.38897	N	0.001530	T	0.60495	0.2273	L	0.36672	1.1	0.36925	D	0.891609	B	0.33238	0.403	B	0.37888	0.26	T	0.66224	-0.5977	10	0.37606	T	0.19	.	14.9216	0.70843	1.0:0.0:0.0:0.0	.	417	P51160	PDE6C_HUMAN	P	417	ENSP00000360502:H417P	ENSP00000360502:H417P	H	+	2	0	PDE6C	95384635	0.996000	0.38824	1.000000	0.80357	0.945000	0.59286	4.452000	0.60054	2.163000	0.67991	0.533000	0.62120	CAT	PDE6C	-	pfam_GAF,smart_GAF	ENSG00000095464		0.358	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	132	0.00	0	A	NM_006204		95394645	95394645	+1	no_errors	ENST00000371447	ensembl	human	known	69_37n	missense	113	13.08	17	SNP	1.000	C
POU2F2	5452	genome.wustl.edu	37	19	42599447	42599447	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr19:42599447G>T	ENST00000526816.2	-	11	1137	c.1122C>A	c.(1120-1122)agC>agA	p.S374R	POU2F2_ENST00000529067.1_Missense_Mutation_p.S358R|POU2F2_ENST00000389341.5_Missense_Mutation_p.S358R|POU2F2_ENST00000560398.1_Missense_Mutation_p.S380R|POU2F2_ENST00000533720.1_Missense_Mutation_p.S358R|POU2F2_ENST00000342301.4_Missense_Mutation_p.S374R|POU2F2_ENST00000560558.1_Missense_Mutation_p.S319R|POU2F2_ENST00000529952.1_Missense_Mutation_p.S374R			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	374					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCATATGGGGGCTGTAGCTGG	0.657																																						dbGAP											0													18.0	21.0	20.0					19																	42599447		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1122C>A	19.37:g.42599447G>T	ENSP00000431603:p.Ser374Arg		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.S374R	ENST00000526816.2	37	c.1122	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608095	0.66558	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.84442	-1.75;-1.85;-1.85;-1.52;-1.74	3.99	3.99	0.46301	.	1.349620	0.04794	N	0.432152	D	0.88481	0.6448	L	0.29908	0.895	0.50313	D	0.99986	D;D;D	0.76494	0.999;0.996;0.998	D;P;D	0.75484	0.986;0.806;0.964	T	0.80367	-0.1412	10	0.45353	T	0.12	.	10.7484	0.46194	0.0:0.0:0.8095:0.1905	.	358;374;358	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	R	358;374;374;358;373;358;374	ENSP00000373992:S358R;ENSP00000339369:S374R;ENSP00000437221:S358R;ENSP00000437224:S358R;ENSP00000436988:S374R	ENSP00000292077:S374R	S	-	3	2	POU2F2	47291287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.824000	0.62701	2.214000	0.71695	0.655000	0.94253	AGC	POU2F2	-	NULL	ENSG00000028277		0.657	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	36	0.00	0	G			42599447	42599447	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	1.000	T
SLC4A10	57282	genome.wustl.edu	37	2	162757469	162757469	+	Missense_Mutation	SNP	G	G	A	rs267598941		TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr2:162757469G>A	ENST00000446997.1	+	12	1483	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E434K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E434K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.E445K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E464K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	464					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGCTCATGGGGAAGCAGAGCC	0.448																																						dbGAP											0													48.0	54.0	52.0					2																	162757469		1946	4131	6077	-	-	-	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1390G>A	2.37:g.162757469G>A	ENSP00000393066:p.Glu464Lys		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E464K	ENST00000446997.1	37	c.1390	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888538	0.72524	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.28	5.27	5.27	0.74061	.	0.042731	0.85682	D	0.000000	T	0.80336	0.4604	M	0.76170	2.325	0.80722	D	1	B;B;B;B	0.17852	0.002;0.001;0.002;0.024	B;B;B;B	0.12837	0.005;0.004;0.005;0.008	T	0.75780	-0.3197	10	0.14656	T	0.56	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	445;464;434;464	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	445;434;434;433;464;464;463	ENSP00000364664:E445K;ENSP00000395797:E434K;ENSP00000272716:E434K;ENSP00000393066:E464K;ENSP00000404486:E464K	ENSP00000272716:E434K	E	+	1	0	SLC4A10	162465715	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.628000	0.89032	0.655000	0.94253	GAA	SLC4A10	-	tigrfam_HCO3_transpt_euk	ENSG00000144290		0.448	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	150	0.00	0	G	NM_022058		162757469	162757469	+1	no_errors	ENST00000446997	ensembl	human	known	69_37n	missense	85	19.05	20	SNP	1.000	A
SVEP1	79987	genome.wustl.edu	37	9	113170187	113170187	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr9:113170187C>G	ENST00000401783.2	-	38	8029	c.7693G>C	c.(7693-7695)Ggt>Cgt	p.G2565R	SVEP1_ENST00000297826.5_Missense_Mutation_p.G491R|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2542R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2565	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTACAAAACCATTTTCAATG	0.488																																						dbGAP											0													58.0	58.0	58.0					9																	113170187		1962	4162	6124	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7693G>C	9.37:g.113170187C>G	ENSP00000384917:p.Gly2565Arg		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G2565R	ENST00000401783.2	37	c.7693	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255210	0.80135	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.69926	-0.44;-0.44;0.45	6.07	6.07	0.98685	Complement control module (2);Sushi/SCR/CCP (3);	0.045850	0.85682	D	0.000000	D	0.89058	0.6607	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91403	0.5145	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	2565	Q4LDE5	SVEP1_HUMAN	R	2565;2542;491;237	ENSP00000384917:G2565R;ENSP00000363593:G2542R;ENSP00000297826:G491R	ENSP00000297826:G491R	G	-	1	0	SVEP1	112210008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.624000	0.83124	2.884000	0.98904	0.655000	0.94253	GGT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		53	0.00	0	C			113170187	113170187	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	57	30.49	25	SNP	1.000	G
TBC1D3P5	440419	genome.wustl.edu	37	17	25746626	25746626	+	RNA	SNP	A	A	G			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr17:25746626A>G	ENST00000586223.1	+	0	306					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		ATTATGAAGTATGAGAACGTA	0.522																																						dbGAP											0																																										-	-	-			0					17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25746626A>G				RNA	SNP	-	NULL	ENST00000586223.1	37	NULL		17																																																																																			TBC1D3P5	-	-	ENSG00000266433		0.522	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	HGNC	pseudogene	OTTHUMT00000451073.1	21	0.00	0	A	NR_033892		25746626	25746626	+1	no_errors	ENST00000581469	ensembl	human	known	69_37n	rna	16	48.39	15	SNP	0.091	G
THAP7	80764	genome.wustl.edu	37	22	21354432	21354432	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr22:21354432C>T	ENST00000215742.4	-	4	841	c.667G>A	c.(667-669)Gga>Aga	p.G223R	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.G223R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	223					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATGTAGGCTCCGGCGGGTGGG	0.667																																						dbGAP											0													8.0	9.0	8.0					22																	21354432		2173	4243	6416	-	-	-	SO:0001583	missense	0			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.667G>A	22.37:g.21354432C>T	ENSP00000215742:p.Gly223Arg		B2RD97|D3DX40	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.G223R	ENST00000215742.4	37	c.667	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693096	0.68271	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96885	-4.16;-4.16	4.39	3.38	0.38709	.	0.096845	0.38897	N	0.001538	D	0.95538	0.8550	N	0.24115	0.695	0.46564	D	0.999104	D	0.89917	1.0	D	0.87578	0.998	D	0.94723	0.7902	10	0.52906	T	0.07	-20.7167	10.3246	0.43785	0.0:0.9024:0.0:0.0976	.	223	Q9BT49	THAP7_HUMAN	R	223	ENSP00000215742:G223R;ENSP00000382084:G223R	ENSP00000215742:G223R	G	-	1	0	THAP7	19684432	0.098000	0.21812	0.552000	0.28243	0.781000	0.44180	1.238000	0.32707	1.178000	0.42870	0.655000	0.94253	GGA	THAP7	-	NULL	ENSG00000184436		0.667	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	12	0.00	0	C	NM_030573		21354432	21354432	-1	no_errors	ENST00000215742	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.731	T
THBS4	7060	genome.wustl.edu	37	5	79375018	79375018	+	Silent	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr5:79375018G>A	ENST00000350881.2	+	19	2638	c.2448G>A	c.(2446-2448)acG>acA	p.T816T	THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.T725T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	816	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T816T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGAAGCAGACGGAGCAGACAT	0.488																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											106.0	92.0	97.0					5																	79375018		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2448G>A	5.37:g.79375018G>A			B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.T816	ENST00000350881.2	37	c.2448	CCDS4049.1	5																																																																																			THBS4	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl	ENSG00000113296		0.488	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	112	0.00	0	G			79375018	79375018	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	silent	67	50.00	67	SNP	0.001	A
TP53	7157	genome.wustl.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr17:7578382G>C	ENST00000269305.4	-	5	737	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S183*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR	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	183	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> L (in sporadic cancers; somatic mutation).|S -> P (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.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(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)	ATCGCTATCTGAGCAGCGCTC	0.647		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"""	61	Substitution - Nonsense(33)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	lung(14)|upper_aerodigestive_tract(10)|large_intestine(9)|urinary_tract(7)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|stomach(1)|oesophagus(1)|prostate(1)|liver(1)											47.0	46.0	47.0					17																	7578382		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.548C>G	17.37:g.7578382G>C	ENSP00000269305:p.Ser183*		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	Nonsense_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.S183*	ENST00000269305.4	37	c.548	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279499	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	4.49	0.54785	.	0.792587	0.11610	N	0.546873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.9105	8.094	0.30818	0.084:0.1611:0.7549:0.0	.	.	.	.	X	183;183;183;183;183;183;172;90;51;90;51	.	ENSP00000269305:S183X	S	-	2	0	TP53	7519107	0.001000	0.12720	0.516000	0.27786	0.577000	0.36160	0.920000	0.28705	1.440000	0.47531	0.563000	0.77884	TCA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	54	0.00	0	G	NM_000546		7578382	7578382	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	36	49.30	35	SNP	0.011	C
TXNDC16	57544	genome.wustl.edu	37	14	52978095	52978095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr14:52978095C>A	ENST00000281741.4	-	9	990	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	207					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTGCATATTCCACATCCTCA	0.333																																						dbGAP											0													89.0	84.0	86.0					14																	52978095		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.619G>T	14.37:g.52978095C>A	ENSP00000281741:p.Glu207*		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E207*	ENST00000281741.4	37	c.619	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.904655	0.97924	.	.	ENSG00000087301	ENST00000281741	.	.	.	5.31	4.42	0.53409	.	0.356587	0.32533	N	0.005972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-18.2555	12.3949	0.55378	0.0:0.8309:0.1691:0.0	.	.	.	.	X	207	.	ENSP00000281741:E207X	E	-	1	0	TXNDC16	52047845	0.271000	0.24162	0.996000	0.52242	0.661000	0.39034	0.320000	0.19540	1.351000	0.45789	0.460000	0.39030	GAA	TXNDC16	-	NULL	ENSG00000087301		0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	153	0.00	0	C	XM_051699		52978095	52978095	-1	no_errors	ENST00000281741	ensembl	human	known	69_37n	nonsense	54	48.08	50	SNP	0.981	A
TXNIP	10628	genome.wustl.edu	37	1	145440077	145440077	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:145440077A>G	ENST00000369317.4	+	4	845	c.511A>G	c.(511-513)Atg>Gtg	p.M171V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	171					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTTTCCTGCATGTTCATTCC	0.418																																						dbGAP											0													174.0	195.0	188.0					1																	145440077		2203	4300	6503	-	-	-	SO:0001583	missense	0			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.511A>G	1.37:g.145440077A>G	ENSP00000358323:p.Met171Val		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.M171V	ENST00000369317.4	37	c.511	CCDS913.1	1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879262	0.33162	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.05925	3.37;3.37	5.17	4.02	0.46733	Immunoglobulin E-set (1);	0.189115	0.53938	D	0.000049	T	0.01558	0.0050	N	0.19112	0.55	0.41717	D	0.989488	B;B	0.19200	0.034;0.018	B;B	0.18263	0.021;0.007	T	0.40327	-0.9569	10	0.40728	T	0.16	-3.1168	5.4355	0.16478	0.6474:0.1908:0.0:0.1618	.	116;171	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	V	171;116	ENSP00000358323:M171V;ENSP00000396322:M116V	ENSP00000358323:M171V	M	+	1	0	TXNIP	144151434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.916000	0.48813	2.177000	0.69029	0.529000	0.55759	ATG	TXNIP	-	superfamily_Ig_E-set	ENSG00000117289		0.418	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	94	0.00	0	A	NM_006472		145440077	145440077	+1	no_errors	ENST00000369317	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	1.000	G
YEATS4	8089	genome.wustl.edu	37	12	69784092	69784093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr12:69784092_69784093insA	ENST00000247843.2	+	7	950_951	c.680_681insA	c.(679-684)atataafs	p.*228fs	YEATS4_ENST00000548020.1_Frame_Shift_Ins_p.*174fs	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	0					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GCAAAAGACATATAAACAGTTC	0.342																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.681dupA	12.37:g.69784093_69784093dupA	ENSP00000247843:p.*228fs		Q9NQD0	Frame_Shift_Ins	INS	pfam_YEATS,pfscan_YEATS	p.*228fs	ENST00000247843.2	37	c.680_681	CCDS8990.1	12																																																																																			YEATS4	-	NULL	ENSG00000127337		0.342	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS4	HGNC	protein_coding	OTTHUMT00000403663.1	66	0.00	0	-	NM_006530		69784092	69784093	+1	no_errors	ENST00000247843	ensembl	human	known	69_37n	frame_shift_ins	10	33.33	5	INS	0.999:0.960	A
ZC3H11A	9877	genome.wustl.edu	37	1	203798941	203798941	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:203798941C>T	ENST00000545588.1	+	6	4363	c.536C>T	c.(535-537)aCa>aTa	p.T179I	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.T179I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.T179I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.T179I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.T179I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	179					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAACCAAAACACCTACCCTG	0.388																																						dbGAP											0													42.0	39.0	40.0					1																	203798941		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.536C>T	1.37:g.203798941C>T	ENSP00000438527:p.Thr179Ile		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.T179I	ENST00000545588.1	37	c.536	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912314	0.72983	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.22	4.31	0.51392	.	0.330177	0.32401	N	0.006152	T	0.61274	0.2334	L	0.54323	1.7	0.38002	D	0.934249	D	0.89917	1.0	D	0.85130	0.997	T	0.64740	-0.6336	10	0.44086	T	0.13	-20.3221	11.5368	0.50641	0.0:0.9148:0.0:0.0852	.	179	O75152	ZC11A_HUMAN	I	179;179;125;179;179;179;179	ENSP00000356183:T179I;ENSP00000356181:T179I;ENSP00000333253:T179I;ENSP00000438527:T179I;ENSP00000356179:T179I	ENSP00000333253:T179I	T	+	2	0	ZC3H11A	202065564	0.897000	0.30589	0.994000	0.49952	0.998000	0.95712	1.593000	0.36686	1.323000	0.45263	0.655000	0.94253	ACA	ZC3H11A	-	NULL	ENSG00000058673		0.388	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	100	0.00	0	C	NM_014827		203798941	203798941	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	missense	55	23.61	17	SNP	0.997	T
ZMYM3	9203	genome.wustl.edu	37	X	70462188	70462188	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chrX:70462188G>C	ENST00000353904.2	-	23	3821	c.3634C>G	c.(3634-3636)Ctc>Gtc	p.L1212V	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.L1200V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373988.1_Missense_Mutation_p.L1214V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.L1212V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1212					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AAGAACATGAGGGTGTTGAGG	0.527																																						dbGAP											0													99.0	65.0	76.0					X																	70462188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3634C>G	X.37:g.70462188G>C	ENSP00000343909:p.Leu1212Val		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.L1214V	ENST00000353904.2	37	c.3640	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	21.4	4.150978	0.78001	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373988	T;T;T;T	0.53857	1.23;0.6;1.23;1.21	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000008	T	0.65344	0.2682	L	0.59912	1.85	0.80722	D	1	P;P	0.47191	0.867;0.891	P;P	0.58266	0.747;0.836	T	0.62868	-0.6763	10	0.31617	T	0.26	-14.5121	16.8984	0.86107	0.0:0.0:1.0:0.0	.	1200;1212	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1212;1200;1212;1214	ENSP00000322845:L1212V;ENSP00000363110:L1200V;ENSP00000343909:L1212V;ENSP00000363100:L1214V	ENSP00000322845:L1212V	L	-	1	0	ZMYM3	70378913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.166000	0.68216	0.525000	0.51046	CTC	ZMYM3	-	pfam_DUF3504	ENSG00000147130		0.527	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	72	0.00	0	G	NM_201599		70462188	70462188	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	missense	90	36.62	52	SNP	1.000	C
ZNF687	57592	genome.wustl.edu	37	1	151259248	151259248	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SP-01A-11D-A099-09	TCGA-A1-A0SP-10A-02D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3ae9617-b6cd-4d98-b631-39bd4afd3c4e	a409caa8-efd1-4fc8-9753-fa253e65c58d	g.chr1:151259248G>A	ENST00000368879.2	+	2	579	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	161	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACTCCCTTGGACCTGTTTGC	0.627																																						dbGAP											0													55.0	58.0	57.0					1																	151259248		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.481G>A	1.37:g.151259248G>A	ENSP00000357874:p.Asp161Asn		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D161N	ENST00000368879.2	37	c.481		1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675721	0.67928	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01152	5.26;5.26;5.57	4.65	4.65	0.58169	.	0.000000	0.37219	N	0.002195	T	0.00906	0.0030	L	0.29908	0.895	0.36368	D	0.861132	P;B;P	0.40534	0.72;0.18;0.72	P;B;P	0.46172	0.506;0.052;0.506	T	0.77705	-0.2488	9	.	.	.	.	16.4424	0.83906	0.0:0.0:1.0:0.0	.	161;161;161	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	N	161	ENSP00000336620:D161N;ENSP00000319829:D161N;ENSP00000357874:D161N	.	D	+	1	0	ZNF687	149525872	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	4.834000	0.62774	2.419000	0.82065	0.462000	0.41574	GAC	ZNF687	-	NULL	ENSG00000143373		0.627	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		52	0.00	0	G	NM_020832		151259248	151259248	+1	no_errors	ENST00000324048	ensembl	human	known	69_37n	missense	33	44.07	26	SNP	1.000	A
