#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
CENPI	2491	genome.wustl.edu	37	X	100387419	100387419	+	Missense_Mutation	SNP	T	T	G			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chrX:100387419T>G	ENST00000372927.1	+	14	1721	c.1444T>G	c.(1444-1446)Ttc>Gtc	p.F482V	CENPI_ENST00000423383.1_Missense_Mutation_p.F482V|CENPI_ENST00000372926.1_Missense_Mutation_p.F482V|CENPI_ENST00000218507.5_Missense_Mutation_p.F482V	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	482					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGCGCAGCTCTTCTTTACATC	0.328																																							0											0													107.0	97.0	100.0					X																	100387419		2202	4300	6502	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1444T>G	X.37:g.100387419T>G	ENSP00000362018:p.Phe482Val		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_CENP-I	p.F482V	ENST00000372927.1	37	c.1444	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	t	19.93	3.917622	0.73098	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.32	5.32	0.75619	.	0.046040	0.85682	D	0.000000	T	0.78960	0.4366	M	0.77103	2.36	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.81906	-0.0718	9	0.72032	D	0.01	-11.7945	14.3205	0.66484	0.0:0.0:0.0:1.0	.	482;482	B4DZL4;Q92674	.;CENPI_HUMAN	V	482	.	ENSP00000218507:F482V	F	+	1	0	CENPI	100274075	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	6.431000	0.73395	1.760000	0.52011	0.412000	0.27726	TTC	0	pfam_CENP-I		0.328	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	protein_coding	OTTHUMT00000057519.1	45	393	0	0.00	0	0	T	NM_006733	0	0		100387419	1	no_errors	ENST00000372927	ensembl	human	known	74_37	missense	61	275	10.29	11.58	7	36	SNP	1	G
NAA10	8260	genome.wustl.edu	37	X	153199411	153199411	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chrX:153199411T>C	ENST00000464845.1	-	3	482	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	NAA10_ENST00000393712.3_Missense_Mutation_p.Y55C|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370015.4_Missense_Mutation_p.Y55C|NAA10_ENST00000370009.1_Missense_Mutation_p.Y55C	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	55	Interaction with NAA15.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGCCAGGACATACCCCACAAT	0.463																																					Ovarian(94;1099 1433 38814 45882 51063)		0											0													209.0	181.0	190.0					X																	153199411		2203	4300	6503	SO:0001583	missense	0			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.164A>G	X.37:g.153199411T>C	ENSP00000417763:p.Tyr55Cys		A6NM98	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.Y55C	ENST00000464845.1	37	c.164	CCDS14737.1	X	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947824	0.73787	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000545734	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.61	4.61	0.57282	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.64402	U	0.000001	T	0.79370	0.4434	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84888	0.0835	10	0.87932	D	0	-32.6869	12.1918	0.54275	0.0:0.0:0.0:1.0	.	55;55;55	B7Z9N2;A6NM98;P41227	.;.;NAA10_HUMAN	C	55	ENSP00000417763:Y55C;ENSP00000359032:Y55C;ENSP00000377315:Y55C;ENSP00000359026:Y55C	ENSP00000359026:Y55C	Y	-	2	0	NAA10	152852605	1.000000	0.71417	0.553000	0.28255	0.993000	0.82548	7.568000	0.82369	1.510000	0.48803	0.486000	0.48141	TAT	0	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.463	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA10	protein_coding	OTTHUMT00000061108.2	45	216	0	0.00	0	0	T	NM_003491	0	0		153199411	-1	no_errors	ENST00000464845	ensembl	human	known	74_37	missense	37	164	13.64	12.70	6	24	SNP	0.998	C
CSMD2	114784	genome.wustl.edu	37	1	34164425	34164425	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr1:34164425G>A	ENST00000373380.1	-	3	692	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CSMD2_ENST00000373381.4_Missense_Mutation_p.R1285W|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1245	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1245W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCACTACCCCGCAGGCTGTAT	0.602																																							0											1	Substitution - Missense(1)	large_intestine(1)											81.0	78.0	79.0					1																	34164425		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.472C>T	1.37:g.34164425G>A	ENSP00000362478:p.Arg158Trp		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R1285W	ENST00000373380.1	37	c.3853		1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847745	0.71603	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65732	-0.17;-0.17	5.76	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.064952	0.64402	D	0.000009	T	0.75398	0.3844	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;P;P	0.69307	0.963;0.892;0.892	T	0.78157	-0.2313	10	0.66056	D	0.02	.	14.5371	0.67969	0.0:0.0:0.735:0.265	.	158;1245;1285	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1285;158	ENSP00000362479:R1285W;ENSP00000362478:R158W	ENSP00000241312:R1245W	R	-	1	2	CSMD2	33937012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.128000	0.42045	1.522000	0.49001	0.650000	0.86243	CGG	0	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.602	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	74	100	0	0.00	0	0	G	NM_052896	0	0		34164425	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	49	86	12.28	14.00	7	14	SNP	1	A
RAD54L	8438	genome.wustl.edu	37	1	46726520	46726520	+	Missense_Mutation	SNP	T	T	G			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr1:46726520T>G	ENST00000371975.4	+	7	1273	c.599T>G	c.(598-600)cTt>cGt	p.L200R	RAD54L_ENST00000442598.1_Missense_Mutation_p.L200R|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ATGTGGACACTTTTACGCCAG	0.542								Direct reversal of damage;Homologous recombination																															0											0													109.0	97.0	101.0					1																	46726520		2203	4300	6503	SO:0001583	missense	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.599T>G	1.37:g.46726520T>G	ENSP00000361043:p.Leu200Arg		Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L200R	ENST00000371975.4	37	c.599	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549075	0.86127	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.95103	-3.61;-3.61	5.38	5.38	0.77491	DEAD-like helicase (2);SNF2-related (1);	0.062794	0.64402	D	0.000007	D	0.97445	0.9164	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.98288	1.0512	10	0.87932	D	0	-15.9085	15.7161	0.77670	0.0:0.0:0.0:1.0	.	20;200	G3V1N0;Q92698	.;RAD54_HUMAN	R	200;200;20	ENSP00000396113:L200R;ENSP00000361043:L200R	ENSP00000361043:L200R	L	+	2	0	RAD54L	46499107	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	6.259000	0.72494	2.176000	0.68965	0.533000	0.62120	CTT	0	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.542	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	protein_coding	OTTHUMT00000021272.1	40	130	0	0.00	0	0	T	NM_003579	0	0		46726520	1	no_errors	ENST00000371975	ensembl	human	known	74_37	missense	16	97	33.33	11.01	8	12	SNP	1	G
APOB	338	genome.wustl.edu	37	2	21227522	21227522	+	Silent	SNP	A	A	G			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr2:21227522A>G	ENST00000233242.1	-	27	11941	c.11814T>C	c.(11812-11814)gaT>gaC	p.D3938D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3938					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAACGTACCATCTTCGATTT	0.373																																							0											0													160.0	150.0	153.0					2																	21227522		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11814T>C	2.37:g.21227522A>G			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D3938	ENST00000233242.1	37	c.11814	CCDS1703.1	2																																																																																			0	NULL		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	96	347	0	0.00	0	0	A		0	0		21227522	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	87	254	9.38	5.58	9	15	SNP	0.837	G
TTN	7273	genome.wustl.edu	37	2	179479385	179479385	+	Missense_Mutation	SNP	G	G	T			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr2:179479385G>T	ENST00000591111.1	-	211	44157	c.43933C>A	c.(43933-43935)Cct>Act	p.P14645T	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7413T|TTN_ENST00000342992.6_Missense_Mutation_p.P13718T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16286T|TTN_ENST00000359218.5_Missense_Mutation_p.P7346T|TTN_ENST00000460472.2_Missense_Mutation_p.P7221T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14645	Ig-like 96.				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)			TTAGGTTCAGGTTTTCCGGTT	0.433																																							0											0													103.0	93.0	96.0					2																	179479385		1867	4107	5974	SO:0001583	missense	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.43933C>A	2.37:g.179479385G>T	ENSP00000465570:p.Pro14645Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom	p.P13718T	ENST00000591111.1	37	c.41152		2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407840	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92873	0.7733	H	0.99130	4.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95328	0.8427	9	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	7221;7346;7413;14645	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13718;7221;7413;7346;7221	ENSP00000343764:P13718T;ENSP00000434586:P7221T;ENSP00000340554:P7413T;ENSP00000352154:P7346T	ENSP00000340554:P7413T	P	-	1	0	TTN	179187630	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.751000	0.98889	2.805000	0.96524	0.655000	0.94253	CCT	0	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	46	393	0	0.00	0	0	G	NM_133378	0	0		179479385	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	47	260	7.84	12.75	4	38	SNP	1	T
GFM1	85476	genome.wustl.edu	37	3	158399829	158399829	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr3:158399829T>A	ENST00000486715.1	+	14	2004	c.1647T>A	c.(1645-1647)taT>taA	p.Y549*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y549*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y568*	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGGCCAGTATGGAAAAGTAA	0.353																																							0											0													53.0	53.0	53.0					3																	158399829		2203	4300	6503	SO:0001587	stop_gained	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1647T>A	3.37:g.158399829T>A	ENSP00000419038:p.Tyr549*			Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.Y549*	ENST00000486715.1	37	c.1647	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	T	38	7.214550	0.98139	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	6.03	4.86	0.63082	.	0.278806	0.36134	N	0.002775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3064	11.2367	0.48944	0.0:0.1235:0.0:0.8765	.	.	.	.	X	549;549;568	.	ENSP00000264263:Y568X	Y	+	3	2	GFM1	159882523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.503000	0.35715	2.308000	0.77769	0.533000	0.62120	TAT	0	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2		0.353	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	protein_coding	OTTHUMT00000352271.1	99	300	0	0.33	0	1	T	NM_024996	0	0		158399829	1	no_errors	ENST00000486715	ensembl	human	known	74_37	nonsense	191	214	9.48	12.65	20	31	SNP	1	A
PCDHA13	56136	genome.wustl.edu	37	5	140262573	140262573	+	Silent	SNP	G	G	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr5:140262573G>A	ENST00000289272.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHA13_ENST00000409494.1_Silent_p.P240P|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCCCCGGAATTTTACC	0.448																																					Melanoma(147;1739 1852 5500 27947 37288)		0											0													67.0	66.0	66.0					5																	140262573		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.720G>A	5.37:g.140262573G>A			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P240	ENST00000289272.2	37	c.720	CCDS4240.1	5																																																																																			0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	56	262	0	0.38	0	1	G	NM_018904	0	0		140262573	1	no_errors	ENST00000289272	ensembl	human	known	74_37	silent	92	220	13.21	9.43	14	23	SNP	0	A
UTRN	7402	genome.wustl.edu	37	6	145069474	145069474	+	Missense_Mutation	SNP	G	G	T			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr6:145069474G>T	ENST00000367545.3	+	54	8032	c.8032G>T	c.(8032-8034)Gta>Tta	p.V2678L	UTRN_ENST00000367526.4_Missense_Mutation_p.V233L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2678					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTAAATGCTGTAACTAGCAA	0.458																																							0											0													64.0	62.0	63.0					6																	145069474		2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8032G>T	6.37:g.145069474G>T	ENSP00000356515:p.Val2678Leu		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.V2678L	ENST00000367545.3	37	c.8032	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706212	0.30232	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.59502	0.26;3.6	5.47	4.59	0.56863	.	0.479778	0.17561	N	0.169802	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06092	-1.0846	10	0.59425	D	0.04	.	2.6711	0.05067	0.1651:0.1453:0.5394:0.1501	.	2678	P46939	UTRO_HUMAN	L	2678;233	ENSP00000356515:V2678L;ENSP00000356496:V233L	ENSP00000356496:V233L	V	+	1	0	UTRN	145111167	0.989000	0.36119	0.413000	0.26509	0.960000	0.62799	2.523000	0.45580	1.278000	0.44430	0.563000	0.77884	GTA	0	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	protein_coding	OTTHUMT00000042551.1	57	186	0	0.00	0	0	G		0	0		145069474	1	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	105	123	7.89	10.87	9	15	SNP	0.007	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	265	124	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	465	120	11.93	12.41	63	17	SNP	1	A
ZBED6CL	113763	genome.wustl.edu	37	7	150028151	150028151	+	Nonsense_Mutation	SNP	C	C	T	rs183629147		TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr7:150028151C>T	ENST00000343855.4	+	1	1214	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	220																	GGAGAAGAAGCGAGAAGCCTG	0.547																																							0											0													48.0	53.0	51.0					7																	150028151		2203	4300	6503	SO:0001587	stop_gained	0			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.658C>T	7.37:g.150028151C>T	ENSP00000343242:p.Arg220*			Nonsense_Mutation	SNP	NULL	p.R220*	ENST00000343855.4	37	c.658	CCDS5900.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.860283	0.97893	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.95	-2.94	0.05581	.	17.945300	0.00531	U	0.000201	.	.	.	.	.	.	0.28262	N	0.924768	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.9802	0.19403	0.1326:0.3134:0.0:0.554	.	.	.	.	X	220	.	ENSP00000343242:R220X	R	+	1	2	C7orf29	149659084	0.004000	0.15560	0.002000	0.10522	0.685000	0.39939	0.011000	0.13264	-0.640000	0.05495	-0.484000	0.04775	CGA	0	NULL		0.547	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6CL	protein_coding	OTTHUMT00000350702.1	43	203	0	0.00	0	0	C	NM_138434	0	0		150028151	1	no_errors	ENST00000343855	ensembl	human	known	74_37	nonsense	48	123	15.79	13.38	9	19	SNP	0.002	T
ZNF658	26149	genome.wustl.edu	37	9	40774255	40774255	+	Missense_Mutation	SNP	A	A	C			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr9:40774255A>C	ENST00000602553.1	-	5	1314	c.1020T>G	c.(1018-1020)caT>caG	p.H340Q	ZNF658_ENST00000441795.1_Missense_Mutation_p.H338Q|ZNF658_ENST00000377626.3_Missense_Mutation_p.H340Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	340					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)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTACTATATGGGCTGAGC	0.388																																							0											0													64.0	67.0	66.0					9																	40774255		2198	4279	6477	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1020T>G	9.37:g.40774255A>C	ENSP00000473484:p.His340Gln		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.H340Q	ENST00000602553.1	37	c.1020	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	a	8.979	0.974927	0.18736	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.14893	2.47;2.47	1.65	0.457	0.16661	.	.	.	.	.	T	0.08714	0.0216	N	0.24115	0.695	0.09310	N	1	P;B	0.35821	0.523;0.182	B;B	0.26864	0.074;0.019	T	0.24119	-1.0169	9	0.72032	D	0.01	.	4.9493	0.14006	0.8178:0.0:0.1822:0.0	.	340;340	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Q	338;340	ENSP00000408462:H338Q;ENSP00000366853:H340Q	ENSP00000366853:H340Q	H	-	3	2	ZNF658	40764255	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-1.358000	0.02604	0.125000	0.18397	0.315000	0.21342	CAT	0	NULL		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	protein_coding	OTTHUMT00000467800.1	93	122	1.06	1.61	1	2	A	NM_033160	0	0		40774255	-1	no_errors	ENST00000377626	ensembl	human	known	74_37	missense	127	80	8.63	8.05	12	7	SNP	0.003	C
TUBBP5	643224	genome.wustl.edu	37	9	141069223	141069223	+	RNA	SNP	T	T	C			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr9:141069223T>C	ENST00000503395.1	+	0	922									tubulin, beta pseudogene 5																		actaaagacgtgggaggaagt	0.512																																							0											0																																												0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069223T>C				RNA	SNP	0	NULL	ENST00000503395.1	37	NULL		9																																																																																			0	0		0.512	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	pseudogene	OTTHUMT00000373087.1	51	22	1.92	0.00	1	0	T	NR_027156	0	0		141069223	1	no_errors	ENST00000503395	ensembl	human	known	74_37	rna	78	28	7.14	6.67	6	2	SNP	0.013	C
KAZALD1	81621	genome.wustl.edu	37	10	102827664	102827664	+	IGR	SNP	A	A	G	rs113092580		TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr10:102827664A>G	ENST00000370200.5	+	0	1913				KAZALD1_ENST00000465807.1_3'UTR	NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GGCTGGGGGGATGGCGCGGGC	0.647											OREG0020460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001628	intergenic_variant	0			AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918		10.37:g.102827664A>G		1369	D3DR74|Q6ZMB1|Q9BQ73	RNA	SNP	0	NULL	ENST00000370200.5	37	NULL	CCDS7509.1	10	.	.	.	.	.	.	.	.	.	.	A	6.523	0.464660	0.12402	.	.	ENSG00000107821	ENST00000313664	.	.	.	1.6	-1.21	0.09524	.	.	.	.	.	T	0.22166	0.0534	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.25363	-1.0134	5	0.30854	T	0.27	.	2.3182	0.04204	0.2981:0.3224:0.3795:0.0	.	.	.	.	V	205	.	ENSP00000313288:M205V	M	+	1	0	KAZALD1	102817654	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.145000	0.16157	-0.294000	0.08973	0.459000	0.35465	ATG	0	0		0.647	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZALD1	protein_coding	OTTHUMT00000049891.2	94	38	1.05	0.00	1	0	A	NM_030929	rs113092580	A->G		102827664	1	no_errors	ENST00000465807	ensembl	human	known	74_37	rna	75	39	7.41	4.88	6	2	SNP	0	G
TECTA	7007	genome.wustl.edu	37	11	120996317	120996317	+	Missense_Mutation	SNP	G	G	C			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr11:120996317G>C	ENST00000392793.1	+	8	1781	c.1510G>C	c.(1510-1512)Gtc>Ctc	p.V504L	TECTA_ENST00000264037.2_Missense_Mutation_p.V504L			O75443	TECTA_HUMAN	tectorin alpha	504	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTCCGGCTGCGTCGACAACTG	0.622																																							0											0													86.0	88.0	87.0					11																	120996317		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1510G>C	11.37:g.120996317G>C	ENSP00000376543:p.Val504Leu			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.V504L	ENST00000392793.1	37	c.1510	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320466	0.01320	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36878	1.23;1.23	5.02	0.681	0.17986	von Willebrand factor, type D domain (1);	0.507685	0.19972	N	0.101952	T	0.11281	0.0275	N	0.03999	-0.3	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.19844	-1.0293	10	0.10111	T	0.7	.	1.7279	0.02925	0.2125:0.166:0.4347:0.1868	.	504	O75443	TECTA_HUMAN	L	504	ENSP00000376543:V504L;ENSP00000264037:V504L	ENSP00000264037:V504L	V	+	1	0	TECTA	120501527	0.595000	0.26857	0.854000	0.33618	0.071000	0.16799	0.890000	0.28295	0.245000	0.21373	-0.222000	0.12452	GTC	0	NULL		0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	20	37	0	0.00	0	0	G	NM_005422	0	0		120996317	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	11	25	21.43	7.41	3	2	SNP	0.127	C
RAB3IP	117177	genome.wustl.edu	37	12	70195489	70195489	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr12:70195489G>A	ENST00000247833.7	+	8	1494	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y	RAB3IP_ENST00000325555.9_Missense_Mutation_p.C167Y|RAB3IP_ENST00000551641.1_Missense_Mutation_p.C167Y|AC025263.3_ENST00000550437.1_Missense_Mutation_p.C14Y|RAB3IP_ENST00000553099.1_Missense_Mutation_p.C167Y|RAB3IP_ENST00000483530.2_Missense_Mutation_p.C373Y|RAB3IP_ENST00000550847.1_Missense_Mutation_p.C80Y|RAB3IP_ENST00000550536.1_Missense_Mutation_p.C389Y|RAB3IP_ENST00000362025.5_Missense_Mutation_p.C389Y					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGTTGAATGCGGAGGACCA	0.403																																							0											0													96.0	90.0	92.0					12																	70195489		2203	4300	6503	SO:0001583	missense	0				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1118G>A	12.37:g.70195489G>A	ENSP00000247833:p.Cys373Tyr			Missense_Mutation	SNP	pfam_Sec2p	p.C389Y	ENST00000247833.7	37	c.1166	CCDS8995.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.395570|4.395570	0.83011|0.83011	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000526994|ENST00000247833;ENST00000483530;ENST00000325555;ENST00000550536;ENST00000362025;ENST00000551641;ENST00000553099;ENST00000550847	.|T;T;T;T;T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67363|0.67363	0.2885|0.2885	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.71674	.|0.767;0.998;0.767	.|P;P;P	.|0.61940	.|0.661;0.896;0.661	T|T	0.67562|0.67562	-0.5639|-0.5639	5|10	.|0.51188	.|T	.|0.08	.|.	19.621|19.621	0.95656|0.95656	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|389;389;373	.|Q96QF0-4;Q96QF0;Q96QF0-3	.|.;RAB3I_HUMAN;.	T|Y	105|373;373;167;389;389;167;167;80	.|ENSP00000247833:C373Y;ENSP00000419216:C373Y;ENSP00000323349:C167Y;ENSP00000447300:C389Y;ENSP00000355381:C389Y;ENSP00000448773:C167Y;ENSP00000448027:C167Y;ENSP00000448102:C80Y	.|ENSP00000447336:C14Y	A|C	+|+	1|2	0|0	RAB3IP|RAB3IP	68481756|68481756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.087000|9.087000	0.94110|0.94110	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GCG|TGC	0	NULL		0.403	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	protein_coding	OTTHUMT00000280671.2	70	336	0	0.00	0	0	G	NM_022456	0	0		70195489	1	no_errors	ENST00000550536	ensembl	human	known	74_37	missense	83	203	7.78	12.12	7	28	SNP	1	A
ELF1	1997	genome.wustl.edu	37	13	41515206	41515206	+	Silent	SNP	C	C	T			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr13:41515206C>T	ENST00000239882.3	-	8	1421	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.R345R	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	369					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCTGCACTGTCCTCAAAACTT	0.498																																							0											0													174.0	154.0	161.0					13																	41515206		2203	4300	6503	SO:0001819	synonymous_variant	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1107G>A	13.37:g.41515206C>T			B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R369	ENST00000239882.3	37	c.1107	CCDS9374.1	13																																																																																			0	NULL		0.498	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	protein_coding	OTTHUMT00000044654.3	80	241	0	0.41	0	1	C	NM_172373	0	0		41515206	-1	no_errors	ENST00000239882	ensembl	human	known	74_37	silent	86	169	12.24	13.33	12	26	SNP	1	T
TRIM9	114088	genome.wustl.edu	37	14	51561552	51561552	+	Missense_Mutation	SNP	T	T	G			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr14:51561552T>G	ENST00000298355.3	-	1	1227	c.106A>C	c.(106-108)Aac>Cac	p.N36H	TRIM9_ENST00000360392.4_Missense_Mutation_p.N36H|TRIM9_ENST00000338969.5_Missense_Mutation_p.N36H	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	36					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCAGGATGTTGCGGGCGCAC	0.607																																							0											0													22.0	26.0	25.0					14																	51561552		2203	4300	6503	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.106A>C	14.37:g.51561552T>G	ENSP00000298355:p.Asn36His		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.N36H	ENST00000298355.3	37	c.106	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118166	0.56505	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	D;T;D	0.86769	-2.17;2.27;-2.17	5.0	5.0	0.66597	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.89255	0.6663	L	0.40543	1.245	0.46874	D	0.999236	D;D;B	0.69078	0.997;0.997;0.027	D;D;B	0.66351	0.943;0.916;0.035	D	0.89463	0.3738	10	0.52906	T	0.07	.	12.7051	0.57056	0.0:0.0:0.0:1.0	.	36;36;36	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	H	36	ENSP00000298355:N36H;ENSP00000342970:N36H;ENSP00000353561:N36H	ENSP00000298355:N36H	N	-	1	0	TRIM9	50631302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.595000	0.61048	2.117000	0.64856	0.459000	0.35465	AAC	0	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.607	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	protein_coding	OTTHUMT00000276874.1	68	88	0	0.00	0	0	T	NM_015163	0	0		51561552	-1	no_errors	ENST00000338969	ensembl	human	known	74_37	missense	82	69	11.83	5.48	11	4	SNP	1	G
GTF3C1	2975	genome.wustl.edu	37	16	27523094	27523094	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr16:27523094T>C	ENST00000356183.4	-	7	1117	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.M368V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	368					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTGTGAGCATATCCCGCTCG	0.502																																							0											0													200.0	149.0	166.0					16																	27523094		2197	4300	6497	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1102A>G	16.37:g.27523094T>C	ENSP00000348510:p.Met368Val		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.M368V	ENST00000356183.4	37	c.1102	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565410	0.65651	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22336	1.96	5.64	5.64	0.86602	.	0.138042	0.64402	D	0.000005	T	0.34454	0.0898	L	0.29908	0.895	0.41036	D	0.985195	P;D	0.63046	0.539;0.992	B;D	0.74674	0.113;0.984	T	0.06041	-1.0849	10	0.41790	T	0.15	-5.9122	15.5262	0.75910	0.0:0.0:0.0:1.0	.	368;368	Q12789;Q12789-3	TF3C1_HUMAN;.	V	368;366	ENSP00000348510:M368V	ENSP00000348510:M368V	M	-	1	0	GTF3C1	27430595	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.439000	0.59968	2.146000	0.66826	0.528000	0.53228	ATG	0	NULL		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	50	210	0	0.00	0	0	T	NM_001520	0	0		27523094	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	50	122	20.63	13.48	13	19	SNP	1	C
DNAH9	1770	genome.wustl.edu	37	17	11700946	11700946	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr17:11700946C>A	ENST00000262442.4	+	43	8324	c.8256C>A	c.(8254-8256)agC>agA	p.S2752R	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2752R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2752					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACCCAAAGCCCGAACCTGT	0.507																																							0											0													110.0	94.0	99.0					17																	11700946		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8256C>A	17.37:g.11700946C>A	ENSP00000262442:p.Ser2752Arg		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S2752R	ENST00000262442.4	37	c.8256	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569183	0.00895	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25414	1.84;1.8	5.44	-0.754	0.11065	.	0.829834	0.10187	N	0.705166	T	0.05410	0.0143	N	0.00648	-1.295	0.25523	N	0.987341	B	0.02656	0.0	B	0.04013	0.001	T	0.40327	-0.9569	10	0.12766	T	0.61	.	2.2708	0.04090	0.2032:0.3713:0.2754:0.1501	.	2752	Q9NYC9	DYH9_HUMAN	R	2752;2752;1334	ENSP00000262442:S2752R;ENSP00000414874:S2752R	ENSP00000262442:S2752R	S	+	3	2	DNAH9	11641671	0.971000	0.33674	0.050000	0.19076	0.001000	0.01503	0.949000	0.29109	0.240000	0.21263	-0.145000	0.13849	AGC	0	NULL		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	66	285	0	0.00	0	0	C	NM_001372	0	0		11700946	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	67	195	11.84	10.14	9	22	SNP	0.065	A
CATSPERD	257062	genome.wustl.edu	37	19	5772832	5772832	+	Silent	SNP	C	C	T			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr19:5772832C>T	ENST00000381624.3	+	20	1858	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	599					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AGGTCATCGACGCCGAGTATG	0.607																																							0											0													88.0	93.0	92.0					19																	5772832		2112	4224	6336	SO:0001819	synonymous_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1797C>T	19.37:g.5772832C>T			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.D599	ENST00000381624.3	37	c.1797	CCDS12149.2	19																																																																																			0	NULL		0.607	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	protein_coding	OTTHUMT00000286953.2	99	157	0	0.00	0	0	C	NM_152784	0	0		5772832	1	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	72	148	11.11	13.95	9	24	SNP	0	T
NPHS1	4868	genome.wustl.edu	37	19	36332649	36332649	+	Missense_Mutation	SNP	G	G	A	rs386833926		TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr19:36332649G>A	ENST00000378910.5	-	20	2782	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L	NPHS1_ENST00000353632.6_Missense_Mutation_p.S928L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	928	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S928*(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTTTGGTCCGAGCCAAGGGC	0.587																																							0											1	Substitution - Nonsense(1)	large_intestine(1)						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	195.0	145.0	162.0		2783	5.4	1.0	19		162	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	928/1242	36332649	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2783C>T	19.37:g.36332649G>A	ENSP00000368190:p.Ser928Leu		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S928L	ENST00000378910.5	37	c.2783	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701141	0.48307	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.68765	-0.35;-0.35	5.4	5.4	0.78164	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.283025	0.33813	N	0.004532	T	0.56001	0.1956	L	0.41710	1.295	0.25709	N	0.985505	P	0.45348	0.856	B	0.39706	0.307	T	0.59878	-0.7371	10	0.66056	D	0.02	-11.2146	10.2195	0.43188	0.0898:0.0:0.9102:0.0	.	928	O60500	NPHN_HUMAN	L	928	ENSP00000368190:S928L;ENSP00000343634:S928L	ENSP00000343634:S928L	S	-	2	0	NPHS1	41024489	0.891000	0.30450	0.984000	0.44739	0.764000	0.43329	2.019000	0.41001	2.567000	0.86603	0.558000	0.71614	TCG	0	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	39	236	0	0.00	0	0	G		0	0		36332649	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	64	166	8.57	10.75	6	20	SNP	0.897	A
TLDC2	140711	genome.wustl.edu	37	20	35507540	35507540	+	Missense_Mutation	SNP	C	C	T	rs147062113	byFrequency	TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr20:35507540C>T	ENST00000217320.3	+	3	330	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TLDC2_ENST00000602922.1_Missense_Mutation_p.R96W	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	96	TLD.																CCTGTACCGGCGGATGGAGGG	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		17168	0.0		0.0	False		,,,				2504	0.002						0.9996,.,0.0003994											0													58.0	49.0	52.0					20																	35507540		2203	4300	6503	SO:0001583	missense	0			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.286C>T	20.37:g.35507540C>T	ENSP00000217320:p.Arg96Trp		B3KVU8	Missense_Mutation	SNP	pfam_TLDc,smart_TLDc	p.R96W	ENST00000217320.3	37	c.286	CCDS33465.1	20	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714526	0.68730	.	.	ENSG00000101342	ENST00000217320	T	0.46451	0.87	5.09	3.04	0.35103	TLDc (2);	0.434950	0.25161	N	0.032667	T	0.54679	0.1873	M	0.77103	2.36	0.28525	N	0.912867	D	0.67145	0.996	P	0.55303	0.773	T	0.54563	-0.8275	10	0.87932	D	0	-18.2428	9.9222	0.41470	0.396:0.604:0.0:0.0	.	96	A0PJX2	CT118_HUMAN	W	96	ENSP00000217320:R96W	ENSP00000217320:R96W	R	+	1	2	C20orf118	34940954	0.992000	0.36948	1.000000	0.80357	0.929000	0.56500	0.706000	0.25690	1.403000	0.46800	-0.122000	0.15005	CGG	0	pfam_TLDc,smart_TLDc		0.667	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TLDC2	protein_coding	OTTHUMT00000079060.2	43	60	0	0.00	0	0	C	NM_080628	rs147062113	C->A,T		35507540	1	no_errors	ENST00000217320	ensembl	human	known	74_37	missense	49	56	10.91	9.68	6	6	SNP	1	T
APOL5	80831	genome.wustl.edu	37	22	36122858	36122858	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr22:36122858T>C	ENST00000249044.2	+	3	743	c.743T>C	c.(742-744)aTg>aCg	p.M248T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	248					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCCTACCAGATGGCCAAATCC	0.473																																							0											0													154.0	161.0	159.0					22																	36122858		2203	4300	6503	SO:0001583	missense	0			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.743T>C	22.37:g.36122858T>C	ENSP00000249044:p.Met248Thr		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.M248T	ENST00000249044.2	37	c.743	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	T	5.172	0.217330	0.09810	.	.	ENSG00000128313	ENST00000249044	T	0.03301	3.98	3.43	-0.124	0.13523	.	1.238710	0.06279	U	0.697028	T	0.02083	0.0065	N	0.11064	0.09	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.49072	-0.8977	10	0.20046	T	0.44	.	3.9521	0.09374	0.0:0.1915:0.1844:0.6241	.	248	Q9BWW9	APOL5_HUMAN	T	248	ENSP00000249044:M248T	ENSP00000249044:M248T	M	+	2	0	APOL5	34452804	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.336000	0.07863	-0.487000	0.06735	0.496000	0.49642	ATG	0	pfam_ApoL		0.473	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	protein_coding	OTTHUMT00000318979.1	34	240	0	0.00	0	0	T	NM_030642	0	0		36122858	1	no_errors	ENST00000249044	ensembl	human	known	74_37	missense	38	219	7.32	5.60	3	13	SNP	0.002	C
MON1A	84315	genome.wustl.edu	37	3	49948021	49948021	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr3:49948021C>T	ENST00000417270.1	-	5	1627	c.934G>A	c.(934-936)Gac>Aac	p.D312N	MON1A_ENST00000296473.3_Missense_Mutation_p.D401N|MON1A_ENST00000455683.2_Missense_Mutation_p.D239N|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	304										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACAGTGTCGCGCACGGCC	0.697																																							0											0													16.0	19.0	18.0					3																	49948021		2195	4281	6476	SO:0001583	missense	0			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.934G>A	3.37:g.49948021C>T	ENSP00000399613:p.Asp312Asn		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.D401N	ENST00000417270.1	37	c.1201		3	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784289	0.70222	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.72	5.72	0.89469	.	0.040522	0.85682	D	0.000000	T	0.74989	0.3789	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.984;0.963;0.991	T	0.71441	-0.4592	8	.	.	.	-19.0873	19.8863	0.96913	0.0:1.0:0.0:0.0	.	142;239;304	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	N	401;312;239	.	.	D	-	1	0	MON1A	49923025	1.000000	0.71417	0.803000	0.32268	0.041000	0.13682	7.807000	0.86032	2.712000	0.92718	0.555000	0.69702	GAC	0	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1		0.697	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	protein_coding	OTTHUMT00000345538.2	12	8	0	0.00	0	0	C	NM_032355	0	0		49948021	-1	no_errors	ENST00000296473	ensembl	human	known	74_37	missense	14	5	22.22	0.00	4	0	SNP	1	T
MUC21	394263	genome.wustl.edu	37	6	30955023	30955023	+	Silent	SNP	C	C	T	rs143942912	byFrequency	TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr6:30955023C>T	ENST00000376296.3	+	2	1312	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	357	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGTGGGGCCAGCACAGCCA	0.642																																							0											0													135.0	134.0	134.0					6																	30955023		2202	4299	6501	SO:0001819	synonymous_variant	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1071C>T	6.37:g.30955023C>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.A357	ENST00000376296.3	37	c.1071	CCDS34388.1	6																																																																																			0	NULL		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	40	0	2.44	0.00	1	0	C	NM_001010909	rs143942912	C->T		30955023	1	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	70	0	23.08	0.00	21	0	SNP	0.029	T
DNM1P47	100216544	genome.wustl.edu	37	15	102294758	102294758	+	RNA	SNP	G	G	A	rs370993817		TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr15:102294758G>A	ENST00000561463.1	+	0	2804									DNM1 pseudogene 47																		ACCTGTACTCGCGTGGGAACG	0.587																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294758G>A				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	16	0	0	0.00	0	0	G	NG_009149	rs370993817	G->A		102294758	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	19	2	16	0.00	4	0	SNP	0.988	A
DNAJC5	80331	genome.wustl.edu	37	20	62551440	62551440	+	Intron	SNP	G	G	A			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr20:62551440G>A	ENST00000360864.4	+	2	142				MIR941-3_ENST00000401376.2_RNA|MIR941-1_ENST00000401127.2_RNA|MIR941-2_ENST00000401322.2_RNA|DNAJC5_ENST00000369911.2_Intron	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5						cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)		p.G174S(2)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGACGCACCCGGCTGTGTGGA	0.711																																							0											2	Substitution - Missense(2)	kidney(1)|endometrium(1)																																								SO:0001627	intron_variant	0				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.-11-8248G>A	20.37:g.62551440G>A			A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	RNA	SNP	0	NULL	ENST00000360864.4	37	NULL	CCDS13546.1	20																																																																																			0	0		0.711	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR941-1	protein_coding	OTTHUMT00000080244.1	74	0	0	0.00	0	0	G	NM_025219	0	0		62551440	1	no_errors	ENST00000401127	ensembl	human	known	74_37	rna	75	0	9.64	0.00	8	0	SNP	0.148	A
