#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
AATK	9625	genome.wustl.edu	37	17	79094046	79094048	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr17:79094046_79094048delCTT	ENST00000326724.4	-	11	3712_3714	c.3688_3690delAAG	c.(3688-3690)aagdel	p.K1230del	AATK_ENST00000417379.1_In_Frame_Del_p.K1127del	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1230					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGACACGGCCTTCTTCTTGCGT	0.68																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3688_3690delAAG	17.37:g.79094052_79094054delCTT	ENSP00000324196:p.Lys1230del		O75136|Q6ZN31|Q86X28	In_Frame_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K1230in_frame_del	ENST00000326724.4	37	c.3690_3688	CCDS45807.1	17																																																																																			AATK	-	NULL	ENSG00000181409		0.680	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	19	0.00	0	CTT	NM_004920		79094046	79094048	-1	no_errors	ENST00000326724	ensembl	human	known	69_37n	in_frame_del	30	13.89	5	DEL	0.995:1.000:1.000	-
ADCY1	107	genome.wustl.edu	37	7	45753497	45753497	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr7:45753497C>T	ENST00000297323.7	+	20	3285	c.3263C>T	c.(3262-3264)cCc>cTc	p.P1088L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1088					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGACGTCCCCCCGTGTGCCCC	0.627																																						dbGAP											0													73.0	70.0	71.0					7																	45753497		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3263C>T	7.37:g.45753497C>T	ENSP00000297323:p.Pro1088Leu		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P1088L	ENST00000297323.7	37	c.3263	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804909	0.31961	.	.	ENSG00000164742	ENST00000297323	T	0.78816	-1.21	5.36	5.36	0.76844	.	0.362983	0.26220	N	0.025623	T	0.67702	0.2921	N	0.24115	0.695	0.47407	D	0.999412	B	0.02656	0.0	B	0.06405	0.002	T	0.63391	-0.6648	10	0.48119	T	0.1	.	16.5773	0.84705	0.0:1.0:0.0:0.0	.	1088	Q08828	ADCY1_HUMAN	L	1088	ENSP00000297323:P1088L	ENSP00000297323:P1088L	P	+	2	0	ADCY1	45720022	0.242000	0.23868	0.772000	0.31596	0.047000	0.14425	2.885000	0.48570	2.484000	0.83849	0.655000	0.94253	CCC	ADCY1	-	NULL	ENSG00000164742		0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	53	0.00	0	C	NM_021116		45753497	45753497	+1	no_errors	ENST00000297323	ensembl	human	known	69_37n	missense	39	44.29	31	SNP	0.982	T
BRIX1	55299	genome.wustl.edu	37	5	34925580	34925580	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr5:34925580G>T	ENST00000336767.5	+	10	1405	c.1042G>T	c.(1042-1044)Gac>Tac	p.D348Y		NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	348					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ACAGAGGATGGACAGTGGGAA	0.294																																						dbGAP											0													55.0	58.0	57.0					5																	34925580		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.1042G>T	5.37:g.34925580G>T	ENSP00000338862:p.Asp348Tyr		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.D348Y	ENST00000336767.5	37	c.1042	CCDS34143.1	5	.	.	.	.	.	.	.	.	.	.	G	4.898	0.166937	0.09339	.	.	ENSG00000113460	ENST00000336767	T	0.45668	0.89	5.82	4.64	0.57946	.	0.780625	0.12636	N	0.451712	T	0.21387	0.0515	N	0.08118	0	0.24922	N	0.991973	B	0.13594	0.008	B	0.13407	0.009	T	0.14008	-1.0488	10	0.52906	T	0.07	-1.5418	3.0834	0.06270	0.5866:0.0:0.2233:0.1901	.	348	Q8TDN6	BRX1_HUMAN	Y	348	ENSP00000338862:D348Y	ENSP00000338862:D348Y	D	+	1	0	BRIX1	34961337	0.847000	0.29606	0.363000	0.25875	0.014000	0.08584	1.366000	0.34193	1.011000	0.39340	0.655000	0.94253	GAC	BRIX1	-	NULL	ENSG00000113460		0.294	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	54	0.00	0	G	NM_018321		34925580	34925580	+1	no_errors	ENST00000336767	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	0.706	T
C3orf38	285237	genome.wustl.edu	37	3	88205221	88205223	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr3:88205221_88205223delAGA	ENST00000318887.3	+	3	736_738	c.426_428delAGA	c.(424-429)ggagaa>gga	p.E144del	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	144					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTCGCCTAGGAGAAGAATTCTGT	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.426_428delAGA	3.37:g.88205224_88205226delAGA	ENSP00000322469:p.Glu144del		B2R8X6|Q8TC85	In_Frame_Del	DEL	NULL	p.E144in_frame_del	ENST00000318887.3	37	c.426_428	CCDS2921.2	3																																																																																			C3orf38	-	NULL	ENSG00000179021		0.360	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf38	HGNC	protein_coding	OTTHUMT00000341513.1	99	0.00	0	AGA	NM_173824		88205221	88205223	+1	no_errors	ENST00000318887	ensembl	human	known	69_37n	in_frame_del	78	27.10	29	DEL	0.918:0.917:0.998	-
COL4A3BP	10087	genome.wustl.edu	37	5	74706907	74706909	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr5:74706907_74706909delTTC	ENST00000405807.4	-	8	1278_1280	c.857_859delGAA	c.(856-861)agaaca>aca	p.R286del	COL4A3BP_ENST00000261415.7_In_Frame_Del_p.R286del|COL4A3BP_ENST00000380494.5_In_Frame_Del_p.R414del	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	286					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GCTTCCTCTGTTCTTCTTTTCTT	0.31																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.857_859delGAA	5.37:g.74706910_74706912delTTC	ENSP00000383996:p.Arg286del		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	In_Frame_Del	DEL	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.R414in_frame_del	ENST00000405807.4	37	c.1243_1241	CCDS4028.1	5																																																																																			COL4A3BP	-	NULL	ENSG00000113163		0.310	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	220	0.00	0	TTC	NM_005713		74706907	74706909	-1	no_errors	ENST00000380494	ensembl	human	known	69_37n	in_frame_del	217	20.79	58	DEL	0.011:0.227:1.000	-
CRYZL1	9946	genome.wustl.edu	37	21	34968081	34968081	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr21:34968081T>C	ENST00000381554.3	-	11	945	c.860A>G	c.(859-861)gAt>gGt	p.D287G	CRYZL1_ENST00000290244.5_Missense_Mutation_p.D272G|CRYZL1_ENST00000381540.3_Missense_Mutation_p.D287G|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000361534.2_Missense_Mutation_p.D311G|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000480893.1_5'UTR	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	287					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CCAAACTTCATCATTCAGGAA	0.363																																						dbGAP											0													120.0	113.0	115.0					21																	34968081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.860A>G	21.37:g.34968081T>C	ENSP00000370966:p.Asp287Gly		B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.D287G	ENST00000381554.3	37	c.860	CCDS13633.2	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.0|29.0	4.971219|4.971219	0.92919|0.92919	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534|ENST00000441940	T;T;T;T|.	0.15952|.	2.48;2.45;2.38;2.4|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.145662|.	0.64402|.	D|.	0.000011|.	T|.	0.68805|.	0.3041|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;P|.	0.48640|.	0.745;0.913|.	B;B|.	0.38562|.	0.205;0.276|.	T|.	0.66232|.	-0.5975|.	10|.	0.34782|.	T|.	0.22|.	-15.9493|-15.9493	16.2421|16.2421	0.82418|0.82418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	287;311|.	O95825;A6NHJ8|.	QORL1_HUMAN;.|.	G|W	287;272;287;311|62	ENSP00000370966:D287G;ENSP00000290244:D272G;ENSP00000370951:D287G;ENSP00000355075:D311G|.	ENSP00000290244:D272G|.	D|X	-|-	2|3	0|0	CRYZL1|CRYZL1	33889951|33889951	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	6.302000|6.302000	0.72788|0.72788	2.234000|2.234000	0.73211|0.73211	0.533000|0.533000	0.62120|0.62120	GAT|TGA	CRYZL1	-	smart_PKS_ER	ENSG00000205758		0.363	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZL1	HGNC	protein_coding	OTTHUMT00000141282.2	144	0.00	0	T	NM_145858		34968081	34968081	-1	no_errors	ENST00000381554	ensembl	human	known	69_37n	missense	137	24.73	45	SNP	1.000	C
CYP3A4	1576	genome.wustl.edu	37	7	99358590	99358592	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr7:99358590_99358592delTTC	ENST00000336411.2	-	12	1449_1451	c.1266_1268delGAA	c.(1264-1269)aagaac>aac	p.K422del	CYP3A4_ENST00000354593.2_In_Frame_Del_p.K272del	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	422					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GTTGTCCTTGTTCTTCTTGCTGA	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1266_1268delGAA	7.37:g.99358593_99358595delTTC	ENSP00000337915:p.Lys422del		P05184|Q16757|Q9UK50	In_Frame_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.K422in_frame_del	ENST00000336411.2	37	c.1268_1266	CCDS5674.1	7																																																																																			CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160868		0.409	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	606	0.00	0	TTC			99358590	99358592	-1	no_errors	ENST00000336411	ensembl	human	known	69_37n	in_frame_del	473	21.95	133	DEL	1.000:1.000:0.994	-
CYP3A7	1551	genome.wustl.edu	37	7	99306769	99306769	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr7:99306769A>G	ENST00000336374.2	-	11	1144	c.1142T>C	c.(1141-1143)gTt>gCt	p.V381A		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	381					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATTGATTTCAACATCTTTTTT	0.428																																						dbGAP											0													184.0	172.0	176.0					7																	99306769		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1142T>C	7.37:g.99306769A>G	ENSP00000337450:p.Val381Ala		A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V381A	ENST00000336374.2	37	c.1142	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	a	8.251	0.809042	0.16537	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69926	-0.44	3.46	2.27	0.28462	.	0.058702	0.64402	D	0.000002	T	0.66366	0.2782	M	0.81497	2.545	0.36333	D	0.859004	B	0.16802	0.019	B	0.32022	0.139	T	0.69829	-0.5039	10	0.52906	T	0.07	.	6.3222	0.21225	0.8694:0.0:0.1306:0.0	.	381	P24462	CP3A7_HUMAN	A	381	ENSP00000337450:V381A	ENSP00000292414:V381A	V	-	2	0	CYP3A7	99144705	0.756000	0.28383	0.847000	0.33407	0.040000	0.13550	5.955000	0.70306	1.335000	0.45486	0.254000	0.18369	GTT	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B	ENSG00000160870		0.428	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	421	0.24	1	A			99306769	99306769	-1	no_errors	ENST00000336374	ensembl	human	known	69_37n	missense	415	13.51	65	SNP	1.000	G
DBX1	120237	genome.wustl.edu	37	11	20177994	20177994	+	Silent	SNP	G	G	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr11:20177994G>A	ENST00000524983.2	-	4	1086	c.798C>T	c.(796-798)agC>agT	p.S266S	DBX1_ENST00000227256.3_Silent_p.S305S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	266					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGCCCACGTCGCTGAGGTCCG	0.692																																						dbGAP											0													13.0	14.0	14.0					11																	20177994		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.798C>T	11.37:g.20177994G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S305	ENST00000524983.2	37	c.915		11																																																																																			DBX1	-	NULL	ENSG00000109851		0.692	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	19	0.00	0	G	NM_001029865		20177994	20177994	-1	no_errors	ENST00000227256	ensembl	human	known	69_37n	silent	22	37.14	13	SNP	1.000	A
DLG1	1739	genome.wustl.edu	37	3	196846394	196846396	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr3:196846394_196846396delAGA	ENST00000419354.1	-	13	1556_1558	c.1270_1272delTCT	c.(1270-1272)tctdel	p.S424del	DLG1_ENST00000452595.1_In_Frame_Del_p.S308del|DLG1_ENST00000314062.3_In_Frame_Del_p.S373del|DLG1_ENST00000443183.1_In_Frame_Del_p.S308del|DLG1_ENST00000450955.1_In_Frame_Del_p.S391del|DLG1_ENST00000392382.2_In_Frame_Del_p.S391del|DLG1_ENST00000422288.1_In_Frame_Del_p.S373del|DLG1_ENST00000357674.4_In_Frame_Del_p.S391del|DLG1_ENST00000346964.2_In_Frame_Del_p.S424del|DLG1_ENST00000448528.2_In_Frame_Del_p.S424del			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	424					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CAACAGGCTGAGAAGAAGCTTCA	0.399																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1270_1272delTCT	3.37:g.196846397_196846399delAGA	ENSP00000407531:p.Ser424del		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	In_Frame_Del	DEL	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S424in_frame_del	ENST00000419354.1	37	c.1272_1270	CCDS43194.1	3																																																																																			DLG1	-	pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase	ENSG00000075711		0.399	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	85	0.00	0	AGA	NM_004087		196846394	196846396	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	in_frame_del	78	19.59	19	DEL	1.000:1.000:1.000	-
DNAJA4	55466	genome.wustl.edu	37	15	78572663	78572666	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr15:78572663_78572666delAAGT	ENST00000394852.3	+	7	1245_1248	c.1055_1058delAAGT	c.(1054-1059)aaagtgfs	p.KV352fs	DNAJA4_ENST00000343789.3_Frame_Shift_Del_p.KV352fs|DNAJA4_ENST00000394855.3_Frame_Shift_Del_p.KV381fs|DNAJA4_ENST00000446172.2_Frame_Shift_Del_p.KV325fs|RP11-762H8.4_ENST00000558192.1_RNA|WDR61_ENST00000559332.1_5'Flank	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	352					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CCTCGACAGAAAGTGAGGATTACA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.1055_1058delAAGT	15.37:g.78572663_78572666delAAGT	ENSP00000378321:p.Lys352fs		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Frame_Shift_Del	DEL	pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.K381fs	ENST00000394852.3	37	c.1142_1145	CCDS45316.1	15																																																																																			DNAJA4	-	NULL	ENSG00000140403		0.500	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	HGNC	protein_coding	OTTHUMT00000289801.1	73	0.00	0	AAGT	NM_018602		78572663	78572666	+1	no_errors	ENST00000394855	ensembl	human	known	69_37n	frame_shift_del	54	27.16	22	DEL	0.974:0.121:0.117:0.114	-
DND1	373863	genome.wustl.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					dbGAP											1	Deletion - Frameshift(1)	central_nervous_system(1)											6.0	7.0	6.0					5																	140052285		2084	4099	6183	-	-	-	SO:0001589	frameshift_variant	0			AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs			Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T117fs	ENST00000542735.1	37	c.349	CCDS4236.1	5																																																																																			DND1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000256453		0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DND1	HGNC	protein_coding	OTTHUMT00000251669.2	8	0.00	0	T	NM_194249		140052285	140052285	-1	no_errors	ENST00000542735	ensembl	human	known	69_37n	frame_shift_del	16	15.00	3	DEL	0.986	-
ENTPD2	954	genome.wustl.edu	37	9	139943179	139943179	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr9:139943179G>A	ENST00000355097.2	-	9	1465	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	NPDC1_ENST00000488145.1_5'Flank|ENTPD2_ENST00000460614.1_5'UTR|ENTPD2_ENST00000312665.5_Missense_Mutation_p.S450F|NPDC1_ENST00000371601.4_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	473					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGGAGCGCGGAGGCGAAGAG	0.672																																						dbGAP											0													28.0	25.0	26.0					9																	139943179		2194	4290	6484	-	-	-	SO:0001583	missense	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1418C>T	9.37:g.139943179G>A	ENSP00000347213:p.Ser473Phe		O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S473F	ENST00000355097.2	37	c.1418	CCDS7026.1	9	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566423	0.13560	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11277	2.8;2.79	4.14	1.75	0.24633	.	1.559530	0.04771	U	0.428120	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.34030	-0.9845	10	0.39692	T	0.17	-38.4413	5.8966	0.18943	0.4831:0.0:0.5168:0.0	.	450;473;473	Q9Y5L3-2;Q9Y5L3;Q5SPY7	.;ENTP2_HUMAN;.	F	473;450	ENSP00000347213:S473F;ENSP00000312494:S450F	ENSP00000312494:S450F	S	-	2	0	ENTPD2	139063000	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	0.866000	0.27954	0.678000	0.31325	0.491000	0.48974	TCC	ENTPD2	-	NULL	ENSG00000054179		0.672	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	16	0.00	0	G	NM_203468		139943179	139943179	-1	no_errors	ENST00000355097	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.001	A
EPM2AIP1	9852	genome.wustl.edu	37	3	37033943	37033945	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr3:37033943_37033945delAGA	ENST00000322716.5	-	1	850_852	c.624_626delTCT	c.(622-627)cttctg>ctg	p.208_209LL>L	MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	208					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATTATGGTCAGAAGATCTTCTT	0.507																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.624_626delTCT	3.37:g.37033946_37033948delAGA	ENSP00000406027:p.Leu209del		O94866|Q9H3L3	In_Frame_Del	DEL	NULL	p.L209in_frame_del	ENST00000322716.5	37	c.626_624	CCDS46790.1	3																																																																																			EPM2AIP1	-	NULL	ENSG00000178567		0.507	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	30	0.00	0	AGA	NM_014805		37033943	37033945	-1	no_errors	ENST00000322716	ensembl	human	known	69_37n	in_frame_del	41	24.07	13	DEL	1.000:0.898:0.245	-
GOLGA2P5	55592	genome.wustl.edu	37	12	100562921	100562921	+	RNA	DEL	T	T	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr12:100562921delT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GTCTCATTTGTTTTttttttt	0.403																																						dbGAP											0																																										-	-	-			0																															12.37:g.100562921delT			Q9NSV2	RNA	DEL	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2P5	-	-	ENSG00000238105		0.403	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	HGNC	pseudogene	OTTHUMT00000396439.2	29	0.00	0	T			100562921	100562921	-1	no_errors	ENST00000421840	ensembl	human	known	69_37n	rna	27	22.86	8	DEL	0.000	-
KAT6B	23522	genome.wustl.edu	37	10	76781825	76781827	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr10:76781825_76781827delGAA	ENST00000287239.4	+	16	3697_3699	c.3208_3210delGAA	c.(3208-3210)gaadel	p.E1076del	KAT6B_ENST00000372724.1_In_Frame_Del_p.E784del|KAT6B_ENST00000372711.1_In_Frame_Del_p.E893del|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_In_Frame_Del_p.E784del|KAT6B_ENST00000372714.1_In_Frame_Del_p.E784del|RP11-77G23.5_ENST00000436608.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1076	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGAGAGCAGTgaagaagaagagg	0.498											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3208_3210delGAA	10.37:g.76781831_76781833delGAA	ENSP00000287239:p.Glu1076del	1170	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	In_Frame_Del	DEL	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1073in_frame_del	ENST00000287239.4	37	c.3208_3210	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.498	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	59	0.00	0	GAA	NM_012330		76781825	76781827	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	in_frame_del	47	17.54	10	DEL	1.000:1.000:0.978	-
KBTBD8	84541	genome.wustl.edu	37	3	67058478	67058480	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr3:67058478_67058480delATC	ENST00000417314.2	+	4	1524_1526	c.1475_1477delATC	c.(1474-1479)aatcat>aat	p.H493del	KBTBD8_ENST00000460576.1_In_Frame_Del_p.H51del|KBTBD8_ENST00000295568.4_In_Frame_Del_p.H467del			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	493						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ACCTGTGGAAATCATCAACGTAT	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1475_1477delATC	3.37:g.67058481_67058483delATC	ENSP00000401878:p.His493del		B4DTW6|Q96JI5	In_Frame_Del	DEL	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H493in_frame_del	ENST00000417314.2	37	c.1475_1477	CCDS2906.2	3																																																																																			KBTBD8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000163376		0.409	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	107	0.00	0	ATC	NM_032505		67058478	67058480	+1	no_errors	ENST00000417314	ensembl	human	known	69_37n	in_frame_del	91	27.78	35	DEL	1.000:1.000:1.000	-
LEPRE1	64175	genome.wustl.edu	37	1	43212402	43212403	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr1:43212402_43212403delGA	ENST00000296388.5	-	15	2227_2228	c.2176_2177delTC	c.(2176-2178)tcafs	p.S726fs	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_3'UTR|LEPRE1_ENST00000236040.4_3'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	726					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCACTGCCTGAGAGAGACTCT	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.2176_2177delTC	1.37:g.43212408_43212409delGA	ENSP00000296388:p.Ser726fs		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Del	DEL	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.S726fs	ENST00000296388.5	37	c.2177_2176	CCDS472.2	1																																																																																			LEPRE1	-	NULL	ENSG00000117385		0.584	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	94	0.00	0	GA	NM_022356		43212402	43212403	-1	no_errors	ENST00000296388	ensembl	human	known	69_37n	frame_shift_del	128	23.81	40	DEL	0.001:0.000	-
ZFP91	80829	genome.wustl.edu	37	11	58345493	58345493	+	5'Flank	SNP	G	G	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr11:58345493G>A	ENST00000316059.6	+	0	0				LPXN_ENST00000528489.1_5'UTR|LPXN_ENST00000528954.1_Splice_Site_p.S9S|LPXN_ENST00000395074.2_5'Flank|ZFP91-CNTF_ENST00000389919.4_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein						activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ctcacacaccggaagacgaga	0.552																																						dbGAP											0													54.0	49.0	50.0					11																	58345493		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391		11.37:g.58345493G>A	Exception_encountered		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.S9	ENST00000316059.6	37	c.27	CCDS31553.1	11																																																																																			LPXN	-	pirsf_Leupaxin	ENSG00000110031		0.552	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000268674.1	28	0.00	0	G	NM_053023		58345493	58345493	-1	no_errors	ENST00000528954	ensembl	human	known	69_37n	silent	26	38.10	16	SNP	0.000	A
MYO3B	140469	genome.wustl.edu	37	2	171240240	171240240	+	Silent	SNP	G	G	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:171240240G>A	ENST00000408978.4	+	12	1349	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.G402G|MYO3B_ENST00000334231.6_Silent_p.G411G	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	402	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S397_A406del(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTATCATGGGGTGAAACGCG	0.453																																						dbGAP											1	Deletion - In frame(1)	ovary(1)											115.0	108.0	110.0					2																	171240240		1893	4106	5999	-	-	-	SO:0001819	synonymous_variant	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1206G>A	2.37:g.171240240G>A			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.G411	ENST00000408978.4	37	c.1233	CCDS42773.1	2																																																																																			MYO3B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000071909		0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	194	0.00	0	G			171240240	171240240	+1	no_errors	ENST00000334231	ensembl	human	known	69_37n	silent	190	23.08	57	SNP	0.982	A
NUDT18	79873	genome.wustl.edu	37	8	21965179	21965182	+	Frame_Shift_Del	DEL	CTGT	CTGT	-	rs372673072		TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTGT	CTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr8:21965179_21965182delCTGT	ENST00000309188.6	-	5	719_722	c.601_604delACAG	c.(601-606)acagtgfs	p.TV201fs	NUDT18_ENST00000522405.1_Frame_Shift_Del_p.TV124fs|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	201					dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		AACACCCACACTGTCTGGGCGCTG	0.613																																						dbGAP											0										13,4053		6,1,2026						5.4	1.0			66	24,8048		10,4,4022	no	frameshift	NUDT18	NM_024815.3		16,5,6048	A1A1,A1R,RR		0.2973,0.3197,0.3048				37,12101				-	-	-	SO:0001589	frameshift_variant	0				CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.601_604delACAG	8.37:g.21965179_21965182delCTGT	ENSP00000307852:p.Thr201fs		Q8IZ75|Q9H687	Frame_Shift_Del	DEL	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	p.T201fs	ENST00000309188.6	37	c.604_601		8																																																																																			NUDT18	-	NULL	ENSG00000173566		0.613	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	NUDT18	HGNC	protein_coding		100	0.00	0	CTGT	NM_024815		21965179	21965182	-1	no_errors	ENST00000309188	ensembl	human	known	69_37n	frame_shift_del	94	25.40	32	DEL	0.328:0.160:0.808:0.980	-
PASD1	139135	genome.wustl.edu	37	X	150832809	150832809	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chrX:150832809G>A	ENST00000370357.4	+	11	1305	c.1060G>A	c.(1060-1062)Gca>Aca	p.A354T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	354						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCTGGCGCAAGTGCTCA	0.557																																						dbGAP											0													47.0	45.0	46.0					X																	150832809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1060G>A	X.37:g.150832809G>A	ENSP00000359382:p.Ala354Thr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.A354T	ENST00000370357.4	37	c.1060	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.719828	0.00700	.	.	ENSG00000166049	ENST00000370357	T	0.32272	1.46	3.14	-6.29	0.02013	.	.	.	.	.	T	0.06917	0.0176	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15780	-1.0425	9	0.02654	T	1	.	3.1547	0.06500	0.2749:0.1342:0.4575:0.1335	.	354	Q8IV76	PASD1_HUMAN	T	354	ENSP00000359382:A354T	ENSP00000359382:A354T	A	+	1	0	PASD1	150583465	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.388000	0.01059	-2.518000	0.00499	-2.146000	0.00336	GCA	PASD1	-	NULL	ENSG00000166049		0.557	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	75	0.00	0	G	NM_173493		150832809	150832809	+1	no_errors	ENST00000370357	ensembl	human	known	69_37n	missense	73	34.23	38	SNP	0.000	A
PHLDB3	653583	genome.wustl.edu	37	19	44008096	44008098	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr19:44008096_44008098delCTT	ENST00000292140.5	-	2	533_535	c.173_175delAAG	c.(172-177)gaagtg>gtg	p.E58del	PHLDB3_ENST00000599242.1_In_Frame_Del_p.E58del	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	58							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCTTCTCCCACTTCTTCTTCCTC	0.7																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.173_175delAAG	19.37:g.44008102_44008104delCTT	ENSP00000292140:p.Glu58del		Q8N7Z4	In_Frame_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E58in_frame_del	ENST00000292140.5	37	c.175_173	CCDS12621.2	19																																																																																			PHLDB3	-	NULL	ENSG00000176531		0.700	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	102	0.00	0	CTT			44008096	44008098	-1	no_errors	ENST00000292140	ensembl	human	known	69_37n	in_frame_del	102	29.17	42	DEL	1.000:0.998:1.000	-
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	63	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	67	28.42	27	SNP	1.000	A
PRDM2	7799	genome.wustl.edu	37	1	14107659	14107661	+	In_Frame_Del	DEL	TGT	TGT	-	rs573722447		TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr1:14107659_14107661delTGT	ENST00000235372.7	+	8	4225_4227	c.3369_3371delTGT	c.(3367-3372)gatgtt>gat	p.V1126del	PRDM2_ENST00000311066.5_In_Frame_Del_p.V1126del|PRDM2_ENST00000343137.4_In_Frame_Del_p.V925del|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_In_Frame_Del_p.V925del	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGAACAGGATGTTGTTGTTCAG	0.404																																						dbGAP											0									,,,	0,4264		0,0,2132					,,,	2.0	0.3			99	5,8249		0,5,4122	no	coding,coding,intron,coding	PRDM2	NM_015866.4,NM_012231.4,NM_001135610.1,NM_001007257.2	,,,	0,5,6254	A1A1,A1R,RR		0.0606,0.0,0.0399	,,,	,,,		5,12513				-	-	-	SO:0001651	inframe_deletion	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3369_3371delTGT	1.37:g.14107665_14107667delTGT	ENSP00000235372:p.Val1126del		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	In_Frame_Del	DEL	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.V1126in_frame_del	ENST00000235372.7	37	c.3369_3371	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.404	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	130	0.00	0	TGT	NM_012231		14107659	14107661	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	in_frame_del	109	26.67	40	DEL	0.597:0.363:0.092	-
RIPK4	54101	genome.wustl.edu	37	21	43187137	43187137	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr21:43187137A>T	ENST00000352483.2	-	1	129	c.65T>A	c.(64-66)tTc>tAc	p.F22Y	RIPK4_ENST00000544709.1_5'Flank|RIPK4_ENST00000332512.3_Missense_Mutation_p.F22Y|RIPK4_ENST00000542057.1_5'Flank			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	22	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAGCCCGTGAACTCGCCCGC	0.716																																						dbGAP											0													29.0	24.0	26.0					21																	43187137		2201	4299	6500	-	-	-	SO:0001583	missense	0			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.65T>A	21.37:g.43187137A>T	ENSP00000330161:p.Phe22Tyr		Q96KH0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F22Y	ENST00000352483.2	37	c.65		21	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462328	0.84425	.	.	ENSG00000183421	ENST00000332512;ENST00000352483	T;T	0.71698	-0.59;-0.59	3.41	3.41	0.39046	.	0.000000	0.56097	U	0.000027	T	0.77212	0.4097	L	0.48260	1.515	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.78502	-0.2179	10	0.87932	D	0	-25.9477	11.0345	0.47793	1.0:0.0:0.0:0.0	.	22	P57078-2	.	Y	22	ENSP00000332454:F22Y;ENSP00000330161:F22Y	ENSP00000332454:F22Y	F	-	2	0	RIPK4	42060206	1.000000	0.71417	0.991000	0.47740	0.702000	0.40608	7.766000	0.85320	1.182000	0.42928	0.254000	0.18369	TTC	RIPK4	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000183421		0.716	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		18	0.00	0	A	NM_020639		43187137	43187137	-1	no_errors	ENST00000352483	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	T
ROGDI	79641	genome.wustl.edu	37	16	4852446	4852448	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr16:4852446_4852448delCTC	ENST00000322048.7	-	2	430_432	c.52_54delGAG	c.(52-54)gagdel	p.E18del	ROGDI_ENST00000586336.1_5'Flank	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	18					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GCCAGCGGAACTCCTCCTCCTGC	0.773																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.52_54delGAG	16.37:g.4852452_4852454delCTC	ENSP00000322832:p.Glu18del		Q6IA00	In_Frame_Del	DEL	NULL	p.E18in_frame_del	ENST00000322048.7	37	c.54_52	CCDS10523.1	16																																																																																			ROGDI	-	NULL	ENSG00000067836		0.773	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROGDI	HGNC	protein_coding	OTTHUMT00000251643.3	8	0.00	0	CTC	NM_024589		4852446	4852448	-1	no_errors	ENST00000322048	ensembl	human	known	69_37n	in_frame_del	18	21.74	5	DEL	1.000:1.000:1.000	-
RTN4	57142	genome.wustl.edu	37	2	55214698	55214699	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:55214698_55214699delCA	ENST00000337526.6	-	4	3392_3393	c.3149_3150delTG	c.(3148-3150)gtgfs	p.V1050fs	RTN4_ENST00000317610.7_Frame_Shift_Del_p.V231fs|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000357732.4_Frame_Shift_Del_p.V250fs|RTN4_ENST00000394609.2_Frame_Shift_Del_p.V57fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.V844fs|RTN4_ENST00000394611.2_Frame_Shift_Del_p.V844fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.V844fs|RTN4_ENST00000354474.6_Frame_Shift_Del_p.V818fs|RTN4_ENST00000402434.2_Frame_Shift_Del_p.V203fs|RTN4_ENST00000357376.3_Frame_Shift_Del_p.V844fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1050	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AGCTGATGGTCACAGAGAGCAG	0.48																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3149_3150delTG	2.37:g.55214700_55214701delCA	ENSP00000337838:p.Val1050fs		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Del	DEL	pfam_Reticulon,pfscan_Reticulon	p.V1050fs	ENST00000337526.6	37	c.3150_3149	CCDS42684.1	2																																																																																			RTN4	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000115310		0.480	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	147	0.00	0	CA			55214698	55214699	-1	no_errors	ENST00000337526	ensembl	human	known	69_37n	frame_shift_del	148	25.50	51	DEL	1.000:1.000	-
SEMA4F	10505	genome.wustl.edu	37	2	74900877	74900879	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:74900877_74900879delCTT	ENST00000357877.2	+	7	893_895	c.744_746delCTT	c.(742-747)tacttc>tac	p.F251del	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	251	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ACGAAATCTACTTCTTCTTTACG	0.576																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.744_746delCTT	2.37:g.74900883_74900885delCTT	ENSP00000350547:p.Phe251del		Q542Y7|Q9NS35	In_Frame_Del	DEL	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.F251in_frame_del	ENST00000357877.2	37	c.744_746	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000135622		0.576	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	44	0.00	0	CTT	NM_004263		74900877	74900879	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	in_frame_del	66	24.14	21	DEL	1.000:1.000:1.000	-
SLC35E3	55508	genome.wustl.edu	37	12	69140514	69140516	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr12:69140514_69140516delCTT	ENST00000398004.2	+	1	629_631	c.357_359delCTT	c.(355-360)accttc>acc	p.F120del		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	120						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CCATCCAGACCTTCTGCTACCAG	0.567																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.357_359delCTT	12.37:g.69140514_69140516delCTT	ENSP00000381089:p.Phe120del		A8K0T0|Q0P5Y5|Q9P0V1	In_Frame_Del	DEL	pfam_DUF250,pfam_DMT	p.F120in_frame_del	ENST00000398004.2	37	c.357_359	CCDS41808.1	12																																																																																			SLC35E3	-	NULL	ENSG00000175782		0.567	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	108	0.00	0	CTT	NM_018656		69140514	69140516	+1	no_errors	ENST00000398004	ensembl	human	known	69_37n	in_frame_del	126	18.18	28	DEL	0.697:0.552:0.908	-
SP3	6670	genome.wustl.edu	37	2	174819671	174819674	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs16841942	byFrequency	TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:174819671_174819674delTGTT	ENST00000310015.6	-	4	2096_2099	c.1566_1569delAACA	c.(1564-1569)caaacafs	p.QT522fs	SP3_ENST00000418194.2_Frame_Shift_Del_p.QT454fs|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Frame_Shift_Del_p.QT469fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	522					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.T523fs*3(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCACTGTAACTGTTTGTAGATTTG	0.456																																						dbGAP											1	Deletion - Frameshift(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1566_1569delAACA	2.37:g.174819671_174819674delTGTT	ENSP00000310301:p.Gln522fs		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Del	DEL	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T523fs	ENST00000310015.6	37	c.1569_1566	CCDS2254.1	2																																																																																			SP3	-	NULL	ENSG00000172845		0.456	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	88	0.00	0	TGTT	NM_003111		174819671	174819674	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	frame_shift_del	99	18.85	23	DEL	1.000:1.000:1.000:1.000	-
SPEN	23013	genome.wustl.edu	37	1	16257842	16257842	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr1:16257842delC	ENST00000375759.3	+	11	5311	c.5107delC	c.(5107-5109)cccfs	p.P1704fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1704					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTAGACCTGCCCCCAGGAGC	0.567																																						dbGAP											0													108.0	115.0	113.0					1																	16257842		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5107delC	1.37:g.16257842delC	ENSP00000364912:p.Pro1704fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P1704fs	ENST00000375759.3	37	c.5107	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	48	0.00	0	C	NM_015001		16257842	16257842	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	65	10.81	8	DEL	0.001	-
SQLE	6713	genome.wustl.edu	37	8	126030304	126030306	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr8:126030304_126030306delTTC	ENST00000265896.5	+	8	2106_2108	c.1208_1210delTTC	c.(1207-1212)gttctt>gtt	p.L406del	SQLE_ENST00000523430.1_In_Frame_Del_p.L311del	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	406					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTCATAGGTGTTCTTCTTTTGGG	0.345																																						dbGAP											0										13,3515		6,1,1757						5.5	1.0			96	23,7799		11,1,3899	no	coding	SQLE	NM_003129.3		17,2,5656	A1A1,A1R,RR		0.294,0.3685,0.3172				36,11314				-	-	-	SO:0001651	inframe_deletion	0			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1208_1210delTTC	8.37:g.126030307_126030309delTTC	ENSP00000265896:p.Leu406del		Q9UEK6	In_Frame_Del	DEL	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.L406in_frame_del	ENST00000265896.5	37	c.1208_1210	CCDS47918.1	8																																																																																			SQLE	-	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	ENSG00000104549		0.345	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	156	0.00	0	TTC	NM_003129		126030304	126030306	+1	no_errors	ENST00000265896	ensembl	human	known	69_37n	in_frame_del	162	23.61	51	DEL	1.000:0.994:1.000	-
SUZ12	23512	genome.wustl.edu	37	17	30267462	30267465	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTTA	CTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr17:30267462_30267465delCTTA	ENST00000322652.5	+	3	572_575	c.343_346delCTTA	c.(343-348)cttactfs	p.LT115fs	SUZ12_ENST00000580398.1_Frame_Shift_Del_p.LT115fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	115					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GCACAGAACTCTTACTTACATGTC	0.27			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0																																										-	-	-	SO:0001589	frameshift_variant	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.343_346delCTTA	17.37:g.30267466_30267469delCTTA	ENSP00000316578:p.Leu115fs		Q96BD9	Frame_Shift_Del	DEL	pfam_Polycomb_protein_VEFS-Box	p.Y117fs	ENST00000322652.5	37	c.343_346	CCDS11270.1	17																																																																																			SUZ12	-	NULL	ENSG00000178691		0.270	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	57	0.00	0	CTTA	NM_015355		30267462	30267465	+1	no_errors	ENST00000322652	ensembl	human	known	69_37n	frame_shift_del	71	12.20	10	DEL	1.000:1.000:1.000:1.000	-
TAS2R3	50831	genome.wustl.edu	37	7	141464672	141464674	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr7:141464672_141464674delCTT	ENST00000247879.2	+	1	776_778	c.714_716delCTT	c.(712-717)tccttc>tcc	p.F241del	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	241					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					tcatcctttccttcttctttctc	0.448																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.714_716delCTT	7.37:g.141464678_141464680delCTT	ENSP00000247879:p.Phe241del		A4D1U2|Q645W2|Q75MV6	In_Frame_Del	DEL	pfam_TAS2_rcpt	p.F241in_frame_del	ENST00000247879.2	37	c.714_716	CCDS5867.1	7																																																																																			TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.448	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	132	0.00	0	CTT			141464672	141464674	+1	no_errors	ENST00000247879	ensembl	human	known	69_37n	in_frame_del	148	19.35	36	DEL	0.988:0.967:0.031	-
TBL1XR1	79718	genome.wustl.edu	37	3	176756187	176756189	+	In_Frame_Del	DEL	TGT	TGT	-	rs374745294		TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr3:176756187_176756189delTGT	ENST00000430069.1	-	11	1218_1220	c.959_961delACA	c.(958-963)aacacc>acc	p.N320del	TBL1XR1_ENST00000457928.2_In_Frame_Del_p.N320del			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	320					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GAAGCAAAGGTGTTGTTGCTCTG	0.369																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.959_961delACA	3.37:g.176756190_176756192delTGT	ENSP00000405574:p.Asn320del		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N320in_frame_del	ENST00000430069.1	37	c.961_959	CCDS46961.1	3																																																																																			TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000177565		0.369	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	270	0.00	0	TGT	NM_024665		176756187	176756189	-1	no_errors	ENST00000430069	ensembl	human	known	69_37n	in_frame_del	200	24.81	67	DEL	1.000:1.000:1.000	-
TIA1	7072	genome.wustl.edu	37	2	70475537	70475538	+	Splice_Site	DEL	AG	AG	-			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:70475537_70475538delAG	ENST00000433529.2	-	1	235_236	c.25_26delCT	c.(25-27)cta>a	p.L9fs	TIA1_ENST00000445587.1_Splice_Site_p.L9fs|C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000282574.4_Splice_Site_p.L9fs|TIA1_ENST00000415783.2_Splice_Site_p.L9fs|TIA1_ENST00000416149.2_Splice_Site_p.L9fs	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	9	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CCAGACTCACAGAGTCTTGGGC	0.649																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.26+1CT>-	2.37:g.70475539_70475540delAG			Q53SS9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.L9fs	ENST00000433529.2	37	c.26_25	CCDS1901.1	2																																																																																			TIA1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116001		0.649	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	23	0.00	0	AG	NM_022037	Frame_Shift_Del	70475537	70475538	-1	no_errors	ENST00000433529	ensembl	human	known	69_37n	frame_shift_del	41	31.67	19	DEL	1.000:1.000	-
TIMM23	100287932	genome.wustl.edu	37	10	51592555	51592555	+	Silent	SNP	T	T	C			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr10:51592555T>C	ENST00000260867.4	-	7	702	c.579A>G	c.(577-579)ctA>ctG	p.L193L	TIMM23_ENST00000374064.3_Silent_p.L145L|TIMM23_ENST00000374065.3_Silent_p.L156L|TIMM23_ENST00000485812.1_5'UTR	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	193					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						AGTTATTATATAGTGCATAGA	0.453																																						dbGAP											0													141.0	135.0	137.0					10																	51592555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.579A>G	10.37:g.51592555T>C			Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.I91V	ENST00000260867.4	37	c.271	CCDS7238.1	10	.	.	.	.	.	.	.	.	.	.	T	0.697	-0.792166	0.02884	.	.	ENSG00000138297	ENST00000444743	.	.	.	5.41	-2.63	0.06133	.	.	.	.	.	T	0.48696	0.1514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-3.495	5.8685	0.18791	0.1047:0.5194:0.2125:0.1633	.	.	.	.	V	91	.	.	I	-	1	0	TIMM23	51262561	0.075000	0.21258	0.831000	0.32960	0.013000	0.08279	-1.511000	0.02260	-0.321000	0.08627	0.533000	0.62120	ATA	TIMM23	-	pfam_Tim17/Tim22/Tim23/PMP24	ENSG00000138297		0.453	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM23	HGNC	protein_coding	OTTHUMT00000048040.1	144	0.00	0	T	NM_006327.2		51592555	51592555	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444743	ensembl	human	known	69_37n	missense	94	46.59	82	SNP	0.268	C
TMEM87A	25963	genome.wustl.edu	37	15	42529656	42529656	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr15:42529656T>C	ENST00000389834.4	-	9	1106	c.842A>G	c.(841-843)cAg>cGg	p.Q281R	TMEM87A_ENST00000448392.1_Missense_Mutation_p.Q220R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	281						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCGGATATTCTGAAATTCCGC	0.428																																						dbGAP											0													104.0	97.0	100.0					15																	42529656		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.842A>G	15.37:g.42529656T>C	ENSP00000374484:p.Gln281Arg		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.Q281R	ENST00000389834.4	37	c.842	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916435	0.92249	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	M	0.66297	2.02	0.80722	D	1	D;B	0.76494	0.999;0.151	D;B	0.83275	0.996;0.17	T	0.74636	-0.3599	9	0.30078	T	0.28	-10.1079	16.1464	0.81575	0.0:0.0:0.0:1.0	.	281;220	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	R	281;220;257	.	ENSP00000374484:Q281R	Q	-	2	0	TMEM87A	40316948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.220000	0.72140	0.383000	0.25322	CAG	TMEM87A	-	pfam_TM_rcpt_euk	ENSG00000103978		0.428	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	166	0.00	0	T	NM_015497		42529656	42529656	-1	no_errors	ENST00000389834	ensembl	human	known	69_37n	missense	134	31.47	62	SNP	1.000	C
TTC7B	145567	genome.wustl.edu	37	14	91007788	91007788	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr14:91007788T>G	ENST00000328459.6	-	20	2577	c.2456A>C	c.(2455-2457)gAg>gCg	p.E819A	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.E836A	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	819										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGGAAGCACTCCGTAGCCGC	0.682																																						dbGAP											0													33.0	31.0	32.0					14																	91007788		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2456A>C	14.37:g.91007788T>G	ENSP00000336127:p.Glu819Ala		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E836A	ENST00000328459.6	37	c.2507	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811103	0.70797	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972	T;T;T	0.76316	-1.01;-1.01;-1.01	5.5	5.5	0.81552	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.068512	0.56097	D	0.000035	T	0.72811	0.3507	L	0.33485	1.01	0.80722	D	1	P;P	0.42078	0.77;0.728	B;B	0.42738	0.396;0.201	T	0.76830	-0.2814	10	0.72032	D	0.01	-21.821	15.616	0.76767	0.0:0.0:0.0:1.0	.	819;836	Q86TV6;Q86TV6-2	TTC7B_HUMAN;.	A	717;836;819;306	ENSP00000349564:E836A;ENSP00000336127:E819A;ENSP00000451440:E306A	ENSP00000336127:E819A	E	-	2	0	TTC7B	90077541	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	7.933000	0.87642	2.090000	0.63153	0.379000	0.24179	GAG	TTC7B	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000165914		0.682	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	33	0.00	0	T			91007788	91007788	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	G
TTC7B	145567	genome.wustl.edu	37	14	91007891	91007891	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr14:91007891T>G	ENST00000328459.6	-	20	2474	c.2353A>C	c.(2353-2355)Aag>Cag	p.K785Q	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.K802Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	785										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGGAGGATCTTCTCCGCCAGA	0.632																																						dbGAP											0													42.0	35.0	37.0					14																	91007891		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2353A>C	14.37:g.91007891T>G	ENSP00000336127:p.Lys785Gln		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K802Q	ENST00000328459.6	37	c.2404	CCDS32140.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.15|15.15	2.747071|2.747071	0.49257|0.49257	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555894;ENST00000557292|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972	T|T;T;T	0.59638|0.74209	0.25|-0.82;-0.82;0.25	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82674|0.82674	0.5088|0.5088	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.994	D|D	0.83560|0.83560	0.0106|0.0106	6|10	.|0.56958	.|D	.|0.05	-27.567|-27.567	16.2483|16.2483	0.82460|0.82460	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|785;802	.|Q86TV6;Q86TV6-2	.|TTC7B_HUMAN;.	A|Q	126;212|683;802;785;272	ENSP00000452031:E212A|ENSP00000349564:K802Q;ENSP00000336127:K785Q;ENSP00000451440:K272Q	.|ENSP00000336127:K785Q	E|K	-|-	2|1	0|0	TTC7B|TTC7B	90077644|90077644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	7.972000|7.972000	0.88022|0.88022	2.237000|2.237000	0.73441|0.73441	0.459000|0.459000	0.35465|0.35465	GAA|AAG	TTC7B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000165914		0.632	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	33	0.00	0	T			91007891	91007891	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179442017	179442017	+	Silent	SNP	C	C	T			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:179442017C>T	ENST00000591111.1	-	274	64346	c.64122G>A	c.(64120-64122)gcG>gcA	p.A21374A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A23015A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.A20447A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.A13950A|TTN_ENST00000342175.6_Silent_p.A14142A|TTN_ENST00000359218.5_Silent_p.A14075A|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21374	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATTCACCCGCATCTTTTC	0.448																																						dbGAP											0													101.0	91.0	94.0					2																	179442017		1910	4142	6052	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64122G>A	2.37:g.179442017C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A20447	ENST00000591111.1	37	c.61341		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	197	0.00	0	C	NM_133378		179442017	179442017	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	158	29.02	65	SNP	0.909	T
WDR47	22911	genome.wustl.edu	37	1	109525305	109525305	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr1:109525305C>T	ENST00000369962.3	-	12	2414	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	WDR47_ENST00000357672.3_Missense_Mutation_p.G703E|WDR47_ENST00000369965.4_Missense_Mutation_p.G732E|WDR47_ENST00000361054.3_Missense_Mutation_p.G703E|WDR47_ENST00000400794.3_Missense_Mutation_p.G739E			O94967	WDR47_HUMAN	WD repeat domain 47	731					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCCCCTGCTCCAGCACTTAT	0.428																																						dbGAP											0													119.0	117.0	118.0					1																	109525305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2192G>A	1.37:g.109525305C>T	ENSP00000358979:p.Gly731Glu		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G739E	ENST00000369962.3	37	c.2216	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974674	0.92919	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.90237	0.4283	10	0.87932	D	0	-7.9928	18.8357	0.92162	0.0:1.0:0.0:0.0	.	703;739;731;732	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	E	739;731;703;732;703	ENSP00000383599:G739E;ENSP00000358979:G731E;ENSP00000354339:G703E;ENSP00000358982:G732E;ENSP00000350301:G703E	ENSP00000350301:G703E	G	-	2	0	WDR47	109326828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.452000	0.82932	0.561000	0.74099	GGA	WDR47	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085433		0.428	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	97	0.00	0	C	NM_014969		109525305	109525305	-1	no_errors	ENST00000400794	ensembl	human	known	69_37n	missense	58	39.58	38	SNP	1.000	T
ZNF2	7549	genome.wustl.edu	37	2	95847302	95847302	+	Silent	SNP	G	G	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr2:95847302G>A	ENST00000340539.5	+	5	1191	c.729G>A	c.(727-729)tcG>tcA	p.S243S	ZNF2_ENST00000295210.6_Silent_p.S205S|ZNF2_ENST00000453539.2_Silent_p.S256S|ZNF2_ENST00000398107.2_Silent_p.S201S|ZNF2_ENST00000425369.1_Silent_p.S163S	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TTGACCGTTCGTCCCTAACTG	0.522																																						dbGAP											0													115.0	128.0	124.0					2																	95847302		2194	4300	6494	-	-	-	SO:0001819	synonymous_variant	0			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.729G>A	2.37:g.95847302G>A			A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S243	ENST00000340539.5	37	c.729	CCDS42712.1	2																																																																																			ZNF2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163067		0.522	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	111	0.00	0	G	NM_021088		95847302	95847302	+1	no_errors	ENST00000340539	ensembl	human	known	69_37n	silent	93	31.62	43	SNP	0.000	A
ZNF300	91975	genome.wustl.edu	37	5	150275009	150275009	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr5:150275009T>A	ENST00000274599.5	-	6	2212	c.1792A>T	c.(1792-1794)Att>Ttt	p.I598F	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.I614F|ZNF300_ENST00000418587.2_Missense_Mutation_p.I562F|ZNF300_ENST00000394226.2_Missense_Mutation_p.I598F	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTGTGAATTCTCTGGTGT	0.378																																						dbGAP											0													100.0	101.0	101.0					5																	150275009		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1792A>T	5.37:g.150275009T>A	ENSP00000274599:p.Ile598Phe		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I614F	ENST00000274599.5	37	c.1840	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927712	0.52759	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	L	0.56769	1.78	0.29391	N	0.862634	B	0.33022	0.394	B	0.38954	0.286	T	0.03403	-1.1040	9	0.48119	T	0.1	.	11.1388	0.48390	0.0:0.0:0.0:1.0	.	598	Q96RE9	ZN300_HUMAN	F	614;598;562;598	ENSP00000397178:I614F;ENSP00000274599:I598F;ENSP00000392593:I562F;ENSP00000377773:I598F	ENSP00000274599:I598F	I	-	1	0	ZNF300	150255202	0.031000	0.19500	1.000000	0.80357	0.764000	0.43329	2.093000	0.41710	1.814000	0.52955	0.482000	0.46254	ATT	ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000145908		0.378	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		110	0.00	0	T	NM_052860		150275009	150275009	-1	no_errors	ENST00000446148	ensembl	human	known	69_37n	missense	102	33.77	52	SNP	1.000	A
ZNF518B	85460	genome.wustl.edu	37	4	10445214	10445214	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15P-01A-11D-A10Y-09	TCGA-E2-A15P-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5f1853c2-6579-42d0-adc2-636b5de543e4	07d07a8a-5565-4f85-9de7-dd082bc2802a	g.chr4:10445214A>C	ENST00000326756.3	-	3	3177	c.2739T>G	c.(2737-2739)gaT>gaG	p.D913E		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	913					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAATTGAAGGATCCTTGAGAC	0.403																																						dbGAP											0													102.0	103.0	103.0					4																	10445214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2739T>G	4.37:g.10445214A>C	ENSP00000317614:p.Asp913Glu		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D913E	ENST00000326756.3	37	c.2739	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795890	0.70452	.	.	ENSG00000178163	ENST00000326756	T	0.01584	4.75	6.01	-3.04	0.05412	.	0.238077	0.36066	N	0.002816	T	0.01222	0.0040	L	0.33485	1.01	0.09310	N	0.999999	B	0.25390	0.125	B	0.20184	0.028	T	0.44159	-0.9346	10	0.59425	D	0.04	-30.2123	2.4826	0.04591	0.2892:0.111:0.3909:0.2089	.	913	Q9C0D4	Z518B_HUMAN	E	913	ENSP00000317614:D913E	ENSP00000317614:D913E	D	-	3	2	ZNF518B	10054312	0.990000	0.36364	0.987000	0.45799	0.963000	0.63663	0.375000	0.20518	-0.375000	0.07955	0.528000	0.53228	GAT	ZNF518B	-	NULL	ENSG00000178163		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	72	0.00	0	A	NM_053042		10445214	10445214	-1	no_errors	ENST00000326756	ensembl	human	known	69_37n	missense	81	29.57	34	SNP	0.113	C
