#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BDP1	55814	genome.wustl.edu	37	5	70837323	70837323	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr5:70837323G>C	ENST00000358731.4	+	29	6328	c.6065G>C	c.(6064-6066)aGc>aCc	p.S2022T	BDP1_ENST00000380675.2_Missense_Mutation_p.S158T	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2022					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGATAAAAGCCATATTCCT	0.299																																						dbGAP											0													116.0	107.0	110.0					5																	70837323		1824	4085	5909	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6065G>C	5.37:g.70837323G>C	ENSP00000351575:p.Ser2022Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S2022T	ENST00000358731.4	37	c.6065	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474601	0.43942	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.16743	2.32;2.32	5.28	3.46	0.39613	.	0.321799	0.30959	N	0.008539	T	0.28896	0.0717	L	0.52364	1.645	0.24611	N	0.993726	D;D	0.67145	0.987;0.996	P;P	0.61874	0.889;0.895	T	0.04078	-1.0979	10	0.66056	D	0.02	.	8.5409	0.33393	0.1826:0.0:0.8174:0.0	.	2022;2022	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	T	2022;1570;158;158	ENSP00000351575:S2022T;ENSP00000370050:S158T	ENSP00000351575:S2022T	S	+	2	0	BDP1	70873079	0.699000	0.27786	0.988000	0.46212	0.952000	0.60782	0.714000	0.25808	0.705000	0.31890	0.460000	0.39030	AGC	BDP1	-	NULL	ENSG00000145734		0.299	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	27	0.00	0	G	NM_018429		70837323	70837323	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.991	C
C9orf43	257169	genome.wustl.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						dbGAP											0										2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				-	-	-	SO:0001651	inframe_deletion	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	NULL	p.Q300in_frame_del	ENST00000288462.4	37	c.888_890	CCDS6796.1	9																																																																																			C9orf43	-	NULL	ENSG00000157653		0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	37	0.00	0	GCA	NM_152786		116187646	116187648	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	in_frame_del	25	13.79	4	DEL	0.211:0.207:0.211	-
COASY	80347	genome.wustl.edu	37	17	40715279	40715279	+	Silent	SNP	C	C	T			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr17:40715279C>T	ENST00000393818.2	+	1	1095	c.639C>T	c.(637-639)gtC>gtT	p.V213V	COASY_ENST00000590958.1_Silent_p.V242V|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Silent_p.V213V|COASY_ENST00000421097.2_Silent_p.V213V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	213	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGCTCAGTGTCGCGTGCATCC	0.612																																						dbGAP											0													67.0	62.0	64.0					17																	40715279		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.639C>T	17.37:g.40715279C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.V242	ENST00000393818.2	37	c.726	CCDS11429.1	17																																																																																			COASY	-	pfam_Cytidylyltransf	ENSG00000068120		0.612	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	41	0.00	0	C	NM_025233		40715279	40715279	+1	no_errors	ENST00000590958	ensembl	human	known	69_37n	silent	40	11.11	5	SNP	0.167	T
CTNNA3	29119	genome.wustl.edu	37	10	68280418	68280418	+	Silent	SNP	G	G	A			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr10:68280418G>A	ENST00000433211.2	-	11	1662	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A	CTNNA3_ENST00000373744.4_Silent_p.A496A	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTCATCTACGGCTTCAGTGA	0.358																																						dbGAP											0													195.0	169.0	178.0					10																	68280418		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1488C>T	10.37:g.68280418G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A496	ENST00000433211.2	37	c.1488	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000183230		0.358	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	43	0.00	0	G	NM_013266		68280418	68280418	-1	no_errors	ENST00000373744	ensembl	human	known	69_37n	silent	48	12.73	7	SNP	0.798	A
DFFA	1676	genome.wustl.edu	37	1	10527263	10527263	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr1:10527263G>C	ENST00000377038.3	-	3	492	c.425C>G	c.(424-426)tCa>tGa	p.S142*	DFFA_ENST00000377036.2_Nonsense_Mutation_p.S142*	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	142					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTCCTCCTCTGATAGGAGGAT	0.537																																						dbGAP											0													146.0	139.0	141.0					1																	10527263		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.425C>G	1.37:g.10527263G>C	ENSP00000366237:p.Ser142*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Nonsense_Mutation	SNP	pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD	p.S142*	ENST00000377038.3	37	c.425	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572243	0.65765	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.77	0.60923	.	0.055021	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.5431	14.6101	0.68510	0.07:0.0:0.93:0.0	.	.	.	.	X	142	.	ENSP00000366235:S142X	S	-	2	0	DFFA	10449850	1.000000	0.71417	0.773000	0.31616	0.013000	0.08279	7.769000	0.85360	1.417000	0.47077	-0.142000	0.14014	TCA	DFFA	-	pfam_DNA_fragmentation_C,pirsf_DNA_fragmentation_factor_asu	ENSG00000160049		0.537	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	54	0.00	0	G	NM_004401		10527263	10527263	-1	no_errors	ENST00000377038	ensembl	human	known	69_37n	nonsense	50	10.71	6	SNP	0.982	C
EEF1A1	1915	genome.wustl.edu	37	6	74229113	74229113	+	Missense_Mutation	SNP	C	C	T	rs11550816		TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr6:74229113C>T	ENST00000316292.9	-	2	1262	c.271G>A	c.(271-273)Gat>Aat	p.D91N	EEF1A1_ENST00000309268.6_Missense_Mutation_p.D91N|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D91N	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	91	G3. {ECO:0000250}.|tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGGGCATCAATGATAGTC	0.418											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													94.0	106.0	102.0					6																	74229113		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.271G>A	6.37:g.74229113C>T	ENSP00000339063:p.Asp91Asn	Somatic	1151	WXS	Illumina GAIIx	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.D91N	ENST00000316292.9	37	c.271	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322815	0.60634	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303;ENST00000455918	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	3.93	3.93	0.45458	Protein synthesis factor, GTP-binding (4);	0.000000	0.85682	U	0.000000	D	0.97885	0.9305	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99129	1.0852	10	0.87932	D	0	.	16.5844	0.84724	0.0:1.0:0.0:0.0	.	91;91;91;91	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	N	91	ENSP00000339063:D91N;ENSP00000339053:D91N;ENSP00000330054:D91N;ENSP00000348651:D91N;ENSP00000392366:D91N	ENSP00000339053:D91N	D	-	1	0	EEF1A1	74285834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.344000	0.79328	2.202000	0.70862	0.549000	0.68633	GAT	EEF1A1	-	pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	54	0.00	0	C	NM_001402		74229113	74229113	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	1.000	T
EML5	161436	genome.wustl.edu	37	14	89105192	89105192	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr14:89105192G>A	ENST00000380664.5	-	30	4272	c.4273C>T	c.(4273-4275)Cac>Tac	p.H1425Y	EML5_ENST00000352093.5_Missense_Mutation_p.H1387Y|EML5_ENST00000554922.1_Missense_Mutation_p.H1433Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1425						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATTTGGGGTGCTGGTTTACT	0.303																																						dbGAP											0													93.0	81.0	85.0					14																	89105192		1813	4080	5893	-	-	-	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4273C>T	14.37:g.89105192G>A	ENSP00000370039:p.His1425Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1433Y	ENST00000380664.5	37	c.4297	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686042	0.88639	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.41758	3.61;0.99;3.61	5.38	5.38	0.77491	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	T	0.69187	0.3083	M	0.84326	2.69	0.58432	D	0.999994	D;D	0.71674	0.997;0.998	D;D	0.81914	0.953;0.995	T	0.73760	-0.3881	10	0.72032	D	0.01	-11.2798	19.1248	0.93378	0.0:0.0:1.0:0.0	.	1433;1425	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	Y	1433;1387;1425	ENSP00000451998:H1433Y;ENSP00000298315:H1387Y;ENSP00000370039:H1425Y	ENSP00000298315:H1387Y	H	-	1	0	EML5	88174945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.533000	0.85409	0.591000	0.81541	CAC	EML5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165521		0.303	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	39	0.00	0	G			89105192	89105192	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
PCSK6	5046	genome.wustl.edu	37	15	101844924	101844924	+	5'UTR	SNP	C	C	T	rs2073595|rs45585934	byFrequency	TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr15:101844924C>T	ENST00000561177.1	-	0	3615				RP11-299G20.2_ENST00000558838.1_RNA|PCSK6_ENST00000348070.1_3'UTR|PCSK6_ENST00000358417.3_3'UTR			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6						determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTGGTCATACATTTTATGCC	0.478													C|||	824	0.164537	0.2428	0.1585	5008	,	,		18485	0.0734		0.1889	False		,,,				2504	0.1319					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000561177.1:c.-792G>A	15.37:g.101844924C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	RNA	SNP	-	NULL	ENST00000561177.1	37	NULL		15																																																																																			RP11-299G20.2	-	-	ENSG00000259172		0.478	PCSK6-001	KNOWN	basic	processed_transcript	ENSG00000259172	Clone_based_vega_gene	protein_coding	OTTHUMT00000416811.5	9	0.00	0	C	NM_002570		101844924	101844924	+1	no_errors	ENST00000558838	ensembl	human	known	69_37n	rna	2	77.78	7	SNP	0.000	T
GANAB	23193	genome.wustl.edu	37	11	62400546	62400546	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr11:62400546G>A	ENST00000356638.3	-	8	762	c.746C>T	c.(745-747)tCt>tTt	p.S249F	GANAB_ENST00000346178.4_Missense_Mutation_p.S271F|GANAB_ENST00000540933.1_Missense_Mutation_p.S152F|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Missense_Mutation_p.S157F	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	249					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCCTGGCAGAGAGAAGTCCAA	0.537																																					Melanoma(23;1005 1074 15747 18937)	dbGAP											0													104.0	95.0	98.0					11																	62400546		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.746C>T	11.37:g.62400546G>A	ENSP00000349053:p.Ser249Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.S271F	ENST00000356638.3	37	c.812	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200782	0.79015	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.14	5.14	0.70334	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.996;0.997	D;D;D;D	0.72075	0.966;0.976;0.942;0.974	D	0.93696	0.7011	10	0.87932	D	0	-18.7404	16.153	0.81636	0.0:0.0:1.0:0.0	.	135;157;249;271	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	F	271;249;157;152	ENSP00000340466:S271F;ENSP00000349053:S249F;ENSP00000435306:S157F;ENSP00000442962:S152F	ENSP00000340466:S271F	S	-	2	0	GANAB	62157122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.754000	0.85163	2.673000	0.90976	0.557000	0.71058	TCT	GANAB	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000089597		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	44	0.00	0	G	NM_198334		62400546	62400546	-1	no_errors	ENST00000346178	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185878571	185878571	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr1:185878571C>T	ENST00000271588.4	+	5	953	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P242S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	242					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTTTTGATCCCAGCCTGAA	0.388																																						dbGAP											0													112.0	104.0	107.0					1																	185878571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.724C>T	1.37:g.185878571C>T	ENSP00000271588:p.Pro242Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P242S	ENST00000271588.4	37	c.724	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.218907	0.95104	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.60548	0.19;0.18	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69327	-0.5174	10	0.44086	T	0.13	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	242	Q96RW7	HMCN1_HUMAN	S	242	ENSP00000271588:P242S;ENSP00000356462:P242S	ENSP00000271588:P242S	P	+	1	0	HMCN1	184145194	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.792000	0.85828	2.890000	0.99128	0.585000	0.79938	CCC	HMCN1	-	NULL	ENSG00000143341		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	71	0.00	0	C	NM_031935		185878571	185878571	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235910542	235910542	+	Intron	SNP	C	C	T	rs3754234	byFrequency	TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr1:235910542C>T	ENST00000389794.3	-	29	7955				LYST_ENST00000389793.2_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTAATGGACCGAAGGAGAAG	0.458													T|||	2063	0.411941	0.8805	0.3343	5008	,	,		16452	0.0655		0.4264	False		,,,				2504	0.1759					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7781-715G>A	1.37:g.235910542C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	NULL	p.R137Q	ENST00000389794.3	37	c.410	CCDS31062.1	1	896	0.41025641025641024	404	0.8211382113821138	123	0.3397790055248619	49	0.08566433566433566	320	0.42216358839050133	T	4.670	0.124501	0.08931	.	.	ENSG00000143669	ENST00000487530	.	.	.	5.43	3.06	0.35304	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999916	.	.	.	.	.	.	T	0.17289	-1.0374	3	.	.	.	.	2.286	0.04126	0.1251:0.1385:0.1303:0.6062	rs3754234;rs57225299	.	.	.	Q	137	.	.	R	-	2	0	LYST	233977165	0.936000	0.31750	0.280000	0.24747	0.770000	0.43624	1.324000	0.33712	0.091000	0.17302	-1.087000	0.02190	CGG	LYST	-	NULL	ENSG00000143669		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	43	0.00	0	C			235910542	235910542	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000487530	ensembl	human	novel	69_37n	missense	45	11.76	6	SNP	0.968	T
OR6S1	341799	genome.wustl.edu	37	14	21109617	21109617	+	Silent	SNP	G	G	A			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr14:21109617G>A	ENST00000320704.3	-	1	233	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TTGGAATGATGACAGAAGTGA	0.458																																						dbGAP											0													124.0	118.0	120.0					14																	21109617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.234C>T	14.37:g.21109617G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V78	ENST00000320704.3	37	c.234	CCDS32038.1	14																																																																																			OR6S1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181803		0.458	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1	22	0.00	0	G			21109617	21109617	-1	no_errors	ENST00000320704	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	0.990	A
PSMC3IP	29893	genome.wustl.edu	37	17	40726211	40726211	+	Silent	SNP	C	C	T			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr17:40726211C>T	ENST00000393795.3	-	4	351	c.243G>A	c.(241-243)gtG>gtA	p.V81V	PSMC3IP_ENST00000253789.5_Silent_p.V81V|PSMC3IP_ENST00000590760.1_Intron|PSMC3IP_ENST00000587209.1_Silent_p.V18V	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	81					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGCATCACTCACCATGTCAA	0.517																																						dbGAP											0													74.0	54.0	61.0					17																	40726211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"""Proteasome (prosome, macropain) subunits"""	17928	protein-coding gene	gene with protein product	"""TBP-1 interacting protein"""	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.243G>A	17.37:g.40726211C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C5ILB7|Q14458|Q8WXG2|Q96HA2	Silent	SNP	pfam_TBPIP,pfam_Pencillinase_R	p.V81	ENST00000393795.3	37	c.243	CCDS45688.1	17																																																																																			PSMC3IP	-	pfam_TBPIP,pfam_Pencillinase_R	ENSG00000131470		0.517	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC3IP	HGNC	protein_coding	OTTHUMT00000450427.1	73	0.00	0	C	NM_013290		40726211	40726211	-1	no_errors	ENST00000393795	ensembl	human	known	69_37n	silent	89	15.24	16	SNP	1.000	T
TAB3	257397	genome.wustl.edu	37	X	30873310	30873310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chrX:30873310G>A	ENST00000378933.1	-	3	649	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	TAB3_ENST00000378932.2_Nonsense_Mutation_p.Q158*|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Nonsense_Mutation_p.Q158*|TAB3_ENST00000288422.2_Nonsense_Mutation_p.Q158*|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	158	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GATGGCTGTTGAGGTGGTTGT	0.488																																					Pancreas(164;1598 1985 29022 43301 49529)	dbGAP											0													230.0	165.0	187.0					X																	30873310		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.472C>T	X.37:g.30873310G>A	ENSP00000368215:p.Gln158*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDD9|Q6VQR0	Nonsense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.Q158*	ENST00000378933.1	37	c.472	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.984835	0.97983	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	.	.	.	5.01	5.01	0.66863	.	0.095834	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.7315	17.7859	0.88538	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000288422:Q158X	Q	-	1	0	TAB3	30783231	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.148000	0.94652	2.219000	0.72066	0.600000	0.82982	CAA	TAB3	-	NULL	ENSG00000157625		0.488	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	106	0.00	0	G	NM_152787		30873310	30873310	-1	no_errors	ENST00000288422	ensembl	human	known	69_37n	nonsense	91	10.78	11	SNP	1.000	A
TAS2R8	50836	genome.wustl.edu	37	12	10958815	10958815	+	Silent	SNP	G	G	T	rs138065845	byFrequency	TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr12:10958815G>T	ENST00000240615.2	-	1	1077	c.765C>A	c.(763-765)acC>acA	p.T255T		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	255					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATAGCTAAAGGTCATCAAAA	0.343																																						dbGAP											0													39.0	44.0	42.0					12																	10958815		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.765C>A	12.37:g.10958815G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN29|Q645Y2	Silent	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T255	ENST00000240615.2	37	c.765	CCDS8632.1	12																																																																																			TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000121314		0.343	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1	25	0.00	0	G			10958815	10958815	-1	no_errors	ENST00000240615	ensembl	human	known	69_37n	silent	18	14.29	3	SNP	0.000	T
TEX14	56155	genome.wustl.edu	37	17	56665337	56665337	+	Silent	SNP	C	C	T			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr17:56665337C>T	ENST00000240361.8	-	16	2725	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	TEX14_ENST00000389934.3_Silent_p.Q874Q|TEX14_ENST00000349033.5_Silent_p.Q874Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	880					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cactattaaactgtgtggctt	0.483											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													132.0	112.0	119.0					17																	56665337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2640G>A	17.37:g.56665337C>T		Somatic	1017	WXS	Illumina GAIIx	Phase_IV	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.Q880	ENST00000240361.8	37	c.2640	CCDS56042.1	17																																																																																			TEX14	-	NULL	ENSG00000121101		0.483	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	55	0.00	0	C			56665337	56665337	-1	no_errors	ENST00000240361	ensembl	human	known	69_37n	silent	60	11.76	8	SNP	0.000	T
UBXN2B	137886	genome.wustl.edu	37	8	59324005	59324005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A4Z1-01A-21D-A25Q-09	TCGA-D8-A4Z1-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c74f345b-5217-42db-88d0-ab14aab1b1f3	032b2649-73ad-4838-bd51-afd845fee9b1	g.chr8:59324005delC	ENST00000399598.2	+	1	183	c.61delC	c.(61-63)cctfs	p.P22fs	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	22						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CGGGCCGCGGCCTCCGAGCGC	0.766																																						dbGAP											0													2.0	3.0	3.0					8																	59324005		1072	2386	3458	-	-	-	SO:0001589	frameshift_variant	0			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.61delC	8.37:g.59324005delC	ENSP00000382507:p.Pro22fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ3	Frame_Shift_Del	DEL	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.P21fs	ENST00000399598.2	37	c.61	CCDS43741.1	8																																																																																			UBXN2B	-	NULL	ENSG00000215114		0.766	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2B	HGNC	protein_coding	OTTHUMT00000378184.1	14	0.00	0	C	NM_001077619		59324005	59324005	+1	no_errors	ENST00000399598	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
