#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
OR7A17	26333	genome.wustl.edu	37	19	14992099	14992099	+	Missense_Mutation	SNP	C	C	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:14992099C>A	ENST00000327462.2	-	1	165	c.69G>T	c.(67-69)ttG>ttT	p.L23F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GGAAGGGCTGCAATTCTGGTT	0.428													ENSG00000185385																																					0													40.0	35.0	36.0					19																	14992099		2203	4300	6503	SO:0001583	missense	0			-	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.69G>T	19.37:g.14992099C>A	ENSP00000328144:p.Leu23Phe		Q6IFQ6|Q96R98	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23F	ENST00000327462.2	37	c.69	CCDS12319.1	19	.	.	.	.	.	.	.	.	.	.	c	10.20	1.284405	0.23392	.	.	ENSG00000185385	ENST00000327462	T	0.03330	3.97	2.73	-0.874	0.10631	.	2.440800	0.03848	U	0.271810	T	0.09379	0.0231	M	0.82056	2.57	0.09310	N	1	B	0.33198	0.401	B	0.43018	0.405	T	0.40869	-0.9540	10	0.66056	D	0.02	.	0.5709	0.00695	0.196:0.3672:0.1924:0.2444	.	23	O14581	OR7AH_HUMAN	F	23	ENSP00000328144:L23F	ENSP00000328144:L23F	L	-	3	2	OR7A17	14853099	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-1.145000	0.03194	-0.051000	0.13334	0.388000	0.25769	TTG	-	OR7A17	-	NULL		0.428	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	0	0	0	70	70	61	0.00	0.00	C	NM_030901		14992099	-1	84	61	18	20	tier1	no_errors	ENST00000327462	ensembl	human	known	74_37	missense	82.35	75.31	SNP	0.184	A	84	18
CCDC178	374864	genome.wustl.edu	37	18	30517983	30517983	+	Missense_Mutation	SNP	C	C	T	rs200567065		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr18:30517983C>T	ENST00000383096.3	-	23	2778	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	CCDC178_ENST00000583930.1_Missense_Mutation_p.D890N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D866N|CCDC178_ENST00000402325.1_Missense_Mutation_p.D816N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D890N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D828N|CCDC178_ENST00000581852.1_Missense_Mutation_p.D71N|CCDC178_ENST00000579916.1_Missense_Mutation_p.D186N|RP11-746B8.1_ENST00000580366.1_RNA			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	866																	GCTTAACCATCGTTTTCGCAT	0.368													ENSG00000166960	C|||	1	0.000199681	0.0	0.0014	5008	,	,		21455	0.0		0.0	False		,,,				2504	0.0																0													179.0	160.0	166.0					18																	30517983		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2596G>A	18.37:g.30517983C>T	ENSP00000372576:p.Asp866Asn		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.D890N	ENST00000383096.3	37	c.2668	CCDS42424.1	18	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.907	1.208464	0.22205	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.17054	2.31;2.31;2.35;2.3;2.32	5.72	4.84	0.62591	.	.	.	.	.	T	0.29288	0.0729	N	0.24115	0.695	0.26142	N	0.980267	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;B;D;D;D	0.77557	0.966;0.434;0.99;0.966;0.966	T	0.10730	-1.0617	9	0.87932	D	0	0.0028	14.9957	0.71431	0.0:0.9308:0.0:0.0692	.	890;866;816;828;866	F8W7A7;A1L4G8;Q5BJE1-3;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	N	866;866;828;890;816	ENSP00000385591:D866N;ENSP00000372576:D866N;ENSP00000300227:D828N;ENSP00000385867:D890N;ENSP00000385234:D816N	ENSP00000300227:D828N	D	-	1	0	C18orf34	28771981	0.786000	0.28738	0.961000	0.40146	0.546000	0.35178	1.460000	0.35244	2.696000	0.92011	0.650000	0.86243	GAT	rs200567065	CCDC178	-	NULL		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	0	0	0	48	48	89	0.00	0.00	C	NM_198995		30517983	-1	9	36	31	81	tier1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	22.50	30.77	SNP	0.943	T	9	31
MEFV	4210	genome.wustl.edu	37	16	3298968	3298968	+	Silent	SNP	G	G	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr16:3298968G>A	ENST00000219596.1	-	4	1336	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	MEFV_ENST00000339854.4_Silent_p.L253L|MEFV_ENST00000541159.1_Silent_p.L222L|MEFV_ENST00000536379.1_Silent_p.L222L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	433	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GATTTTCTCAGCTTCTTCAGA	0.512													ENSG00000103313																																					0													172.0	153.0	160.0					16																	3298968		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1297C>T	16.37:g.3298968G>A			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.L433	ENST00000219596.1	37	c.1297	CCDS10498.1	16																																																																																			-	MEFV	-	NULL		0.512	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	0	0	0	25	25	81	0.00	0.00	G	NM_000243		3298968	-1	10	29	10	17	tier1	no_errors	ENST00000219596	ensembl	human	known	74_37	silent	50.00	63.04	SNP	0.000	A	10	10
FAM167A	83648	genome.wustl.edu	37	8	11295631	11295631	+	Intron	SNP	G	G	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr8:11295631G>T	ENST00000528897.1	-	2	1001				FAM167A_ENST00000284486.4_Intron|C8orf12_ENST00000533578.1_Missense_Mutation_p.E40D|FAM167A_ENST00000534308.1_Intron|FAM167A_ENST00000531564.1_Intron|C8orf12_ENST00000284481.3_Missense_Mutation_p.E40D			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						ggccagtggaggccggtagtg	0.607													ENSG00000184608																																					0																																										SO:0001627	intron_variant	0			-		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.381+5908C>A	8.37:g.11295631G>T			A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	NULL	p.E40D	ENST00000528897.1	37	c.120	CCDS5981.1	8	.	.	.	.	.	.	.	.	.	.	G	2.093	-0.407855	0.04832	.	.	ENSG00000184608	ENST00000284481;ENST00000533578	.	.	.	1.63	-0.765	0.11023	.	.	.	.	.	T	0.29556	0.0737	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35425	-0.9789	5	0.87932	D	0	.	2.2551	0.04053	0.0:0.3468:0.3389:0.3143	.	.	.	.	D	40	.	ENSP00000284481:E40D	E	+	3	2	C8orf12	11333041	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.960000	0.03849	-0.140000	0.11394	-0.791000	0.03333	GAG	-	C8orf12	-	NULL		0.607	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	C8orf12	HGNC	protein_coding	OTTHUMT00000383901.1	0	0	0	63	63	64	0.00	0.00	G			11295631	+1	16	15	69	72	tier1	no_errors	ENST00000284481	ensembl	human	known	74_37	missense	18.82	17.24	SNP	0.001	T	16	69
ZNF831	128611	genome.wustl.edu	37	20	57829601	57829601	+	Missense_Mutation	SNP	A	A	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr20:57829601A>T	ENST00000371030.2	+	5	4837	c.4837A>T	c.(4837-4839)Agg>Tgg	p.R1613W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1613							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGTGACGGTAGGAAACGTCA	0.493													ENSG00000124203																																					0													83.0	80.0	81.0					20																	57829601		1882	4126	6008	SO:0001583	missense	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4837A>T	20.37:g.57829601A>T	ENSP00000360069:p.Arg1613Trp		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1613W	ENST00000371030.2	37	c.4837	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377802	0.42105	.	.	ENSG00000124203	ENST00000371030	T	0.04970	3.52	5.66	3.6	0.41247	.	0.690849	0.13151	N	0.409858	T	0.09555	0.0235	L	0.40543	1.245	0.09310	N	1	D	0.56287	0.975	P	0.49192	0.602	T	0.18777	-1.0326	10	0.66056	D	0.02	-6.0237	9.0462	0.36347	0.1734:0.0:0.8266:0.0	.	1613	Q5JPB2	ZN831_HUMAN	W	1613	ENSP00000360069:R1613W	ENSP00000360069:R1613W	R	+	1	2	ZNF831	57262996	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.274000	0.18680	0.720000	0.32209	-0.182000	0.12963	AGG	-	ZNF831	-	NULL		0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0	0	19	19	99	0.00	0.00	A	NM_178457		57829601	+1	11	21	31	121	tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	26.19	14.79	SNP	0.005	T	11	31
KIF1B	23095	genome.wustl.edu	37	1	10383993	10383993	+	Missense_Mutation	SNP	C	C	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:10383993C>T	ENST00000377086.1	+	25	2612	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	KIF1B_ENST00000377081.1_Missense_Mutation_p.P804S|KIF1B_ENST00000263934.6_Missense_Mutation_p.P758S			O60333	KIF1B_HUMAN	kinesin family member 1B	804					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTTTGCCTCCTGAATTACT	0.448													ENSG00000054523																																					0													128.0	119.0	122.0					1																	10383993		2203	4300	6503	SO:0001583	missense	0			-	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2410C>T	1.37:g.10383993C>T	ENSP00000366290:p.Pro804Ser		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P758S	ENST00000377086.1	37	c.2272		1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184919	0.57909	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74106	-0.81;-0.81;-0.81	5.6	5.6	0.85130	.	0.054238	0.85682	D	0.000000	T	0.66557	0.2801	L	0.41573	1.285	0.80722	D	1	B;B;B;B;B;B	0.33212	0.025;0.025;0.019;0.402;0.005;0.011	B;B;B;B;B;B	0.33846	0.019;0.019;0.014;0.171;0.007;0.013	T	0.62982	-0.6738	10	0.06891	T	0.86	.	19.9659	0.97266	0.0:1.0:0.0:0.0	.	790;764;804;778;804;758	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	S	804;758;804;804	ENSP00000263934:P758S;ENSP00000366290:P804S;ENSP00000366284:P804S	ENSP00000263934:P758S	P	+	1	0	KIF1B	10306580	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.722000	0.68485	2.802000	0.96397	0.650000	0.86243	CCT	-	KIF1B	-	NULL		0.448	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	0	0	0	55	55	101	0.00	0.00	C			10383993	+1	19	23	55	115	tier1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	25.68	16.67	SNP	1.000	T	19	55
B3GNT3	10331	genome.wustl.edu	37	19	17918638	17918638	+	Silent	SNP	C	C	A	rs202205669		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:17918638C>A	ENST00000318683.6	+	2	169	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	B3GNT3_ENST00000595387.1_Silent_p.R8R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	8					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCGGCACCGGCGGCCCAATGC	0.622													ENSG00000179913																																					0													27.0	28.0	27.0					19																	17918638		2200	4293	6493	SO:0001819	synonymous_variant	0			-	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.22C>A	19.37:g.17918638C>A			B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	pfam_Glyco_trans_31	p.R8	ENST00000318683.6	37	c.22	CCDS12364.1	19																																																																																			-	B3GNT3	-	NULL		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	HGNC	protein_coding	OTTHUMT00000466877.1	0	0	0	66	66	20	0.00	0.00	C	NM_014256		17918638	+1	12	5	80	40	tier1	no_errors	ENST00000318683	ensembl	human	known	74_37	silent	13.04	11.11	SNP	0.001	A	12	80
BSN	8927	genome.wustl.edu	37	3	49700331	49700331	+	Missense_Mutation	SNP	G	G	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr3:49700331G>T	ENST00000296452.4	+	7	10854	c.10740G>T	c.(10738-10740)gaG>gaT	p.E3580D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3580					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGGAGGAGACGGACTGGT	0.612													ENSG00000164061																																					0													68.0	68.0	68.0					3																	49700331		2203	4300	6503	SO:0001583	missense	0			-	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10740G>T	3.37:g.49700331G>T	ENSP00000296452:p.Glu3580Asp		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E3580D	ENST00000296452.4	37	c.10740	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646766	0.29246	.	.	ENSG00000164061	ENST00000296452	T	0.26373	1.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.70595	2.14	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.49331	-0.8951	10	0.87932	D	0	-11.4205	12.9835	0.58577	0.0739:0.0:0.9261:0.0	.	3580	Q9UPA5	BSN_HUMAN	D	3580	ENSP00000296452:E3580D	ENSP00000296452:E3580D	E	+	3	2	BSN	49675335	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.711000	0.47177	2.679000	0.91253	0.655000	0.94253	GAG	-	BSN	-	NULL		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	0	0	0	92	92	82	0.00	0.00	G	NM_003458		49700331	+1	27	19	43	49	tier1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	38.57	27.94	SNP	1.000	T	27	43
VEZT	55591	genome.wustl.edu	37	12	95694454	95694454	+	3'UTR	SNP	C	C	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr12:95694454C>T	ENST00000436874.1	+	0	2450				VEZT_ENST00000261219.6_3'UTR|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein						chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AAGTAAGAACCAAGATTCATA	0.328													ENSG00000028203																																					0													18.0	18.0	18.0					12																	95694454		1817	4053	5870	SO:0001624	3_prime_UTR_variant	0			-	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.*5C>T	12.37:g.95694454C>T			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	R	SNP	-	NULL	ENST00000436874.1	37	NULL	CCDS44954.1	12																																																																																			-	VEZT	-	-		0.328	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	0	0	0	52	52	82	0.00	0.00	C	NM_017599		95694454	+1	19	23	26	27	tier1	no_errors	ENST00000356859	ensembl	human	known	74_37	rna	42.22	46.00	SNP	0.107	T	19	26
BCL9	607	genome.wustl.edu	37	1	147084929	147084929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:147084929C>T	ENST00000234739.3	+	5	1041	c.301C>T	c.(301-303)Cga>Tga	p.R101*	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	101					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAAAGGGAGCGAAGTATTTC	0.532			T	"""IGH@, IGL@"""	B-ALL								ENSG00000116128																												Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													49.0	54.0	52.0					1																	147084929		2203	4300	6503	SO:0001587	stop_gained	0			-	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.301C>T	1.37:g.147084929C>T	ENSP00000234739:p.Arg101*		Q5T489	Nonsense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R101*	ENST00000234739.3	37	c.301	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.475636	0.99412	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.4	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4576	11.3705	0.49697	0.3448:0.6552:0.0:0.0	.	.	.	.	X	101	.	ENSP00000234739:R101X	R	+	1	2	BCL9	145551553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.131000	0.64751	2.797000	0.96272	0.655000	0.94253	CGA	-	BCL9	-	NULL		0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	0	0	0	91	91	88	0.00	0.00	C	NM_004326		147084929	+1	19	12	106	93	tier1	no_errors	ENST00000234739	ensembl	human	known	74_37	nonsense	15.20	11.43	SNP	1.000	T	19	106
PHRF1	57661	genome.wustl.edu	37	11	610995	610995	+	Missense_Mutation	SNP	G	G	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr11:610995G>C	ENST00000264555.5	+	17	4847	c.4719G>C	c.(4717-4719)gaG>gaC	p.E1573D	PHRF1_ENST00000533464.1_Missense_Mutation_p.E1569D|PHRF1_ENST00000416188.2_Missense_Mutation_p.E1572D|PHRF1_ENST00000413872.2_Missense_Mutation_p.E1571D	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1573					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGTGGAGGAGGTGAAGCTGG	0.597													ENSG00000070047																																					0													92.0	94.0	94.0					11																	610995		2202	4300	6502	SO:0001583	missense	0			-	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4719G>C	11.37:g.610995G>C	ENSP00000264555:p.Glu1573Asp		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1573D	ENST00000264555.5	37	c.4719		11	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818784	0.32145	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	4.34	1.33	0.21861	.	0.000000	0.36338	N	0.002643	T	0.79551	0.4465	M	0.82823	2.61	0.37891	D	0.930712	D;D;D;D	0.89917	0.982;0.998;1.0;0.999	D;D;D;D	0.85130	0.952;0.995;0.997;0.994	T	0.80125	-0.1513	10	0.87932	D	0	-37.3089	8.8738	0.35332	0.3998:0.0:0.6002:0.0	.	1569;1571;1572;1573	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	D	1573;1571;1572;1569	ENSP00000264555:E1573D;ENSP00000388589:E1571D;ENSP00000410626:E1572D;ENSP00000431870:E1569D	ENSP00000264555:E1573D	E	+	3	2	PHRF1	600995	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	1.924000	0.40065	0.169000	0.19679	-0.291000	0.09656	GAG	-	PHRF1	-	NULL		0.597	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	0	0	0	59	59	63	0.00	0.00	G	NM_020901		610995	+1	21	22	22	27	tier1	no_errors	ENST00000264555	ensembl	human	known	74_37	missense	48.84	44.90	SNP	1.000	C	21	22
OR1E2	8388	genome.wustl.edu	37	17	3336989	3336989	+	Missense_Mutation	SNP	A	A	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:3336989A>C	ENST00000248384.1	-	1	146	c.147T>G	c.(145-147)atT>atG	p.I49M		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	49					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						AGTCCAGTCGAATGAGGACAA	0.517													ENSG00000127780																																					0													106.0	101.0	103.0					17																	3336989		2203	4300	6503	SO:0001583	missense	0			-	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.147T>G	17.37:g.3336989A>C	ENSP00000248384:p.Ile49Met		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I49M	ENST00000248384.1	37	c.147	CCDS11026.1	17	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624842	0.28889	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.08458	3.09	5.34	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.32315	0.0825	H	0.96015	3.755	0.20975	N	0.999811	D	0.76494	0.999	D	0.71184	0.972	T	0.26326	-1.0106	10	0.87932	D	0	.	3.3283	0.07075	0.4344:0.0:0.1653:0.4002	.	49	P47887	OR1E2_HUMAN	M	49;48	ENSP00000248384:I49M	ENSP00000248384:I49M	I	-	3	3	OR1E2	3283739	0.000000	0.05858	0.198000	0.23420	0.120000	0.20174	-0.088000	0.11198	0.136000	0.18733	0.473000	0.43528	ATT	-	OR1E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E2	HGNC	protein_coding	OTTHUMT00000207311.1	0	0	0	98	98	53	0.00	0.00	A			3336989	-1	89	52	25	19	tier1	no_errors	ENST00000248384	ensembl	human	known	74_37	missense	78.07	73.24	SNP	0.039	C	89	25
FAM98A	25940	genome.wustl.edu	37	2	33812338	33812338	+	Nonsense_Mutation	SNP	A	A	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr2:33812338A>C	ENST00000238823.8	-	5	712	c.572T>G	c.(571-573)tTa>tGa	p.L191*	FAM98A_ENST00000403368.1_Nonsense_Mutation_p.L191*|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	192							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTTCTTCAGTAAAGGCTTTCC	0.338													ENSG00000119812																																					0													116.0	117.0	117.0					2																	33812338		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.572T>G	2.37:g.33812338A>C	ENSP00000238823:p.Leu191*		B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.L191*	ENST00000238823.8	37	c.572	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	A	35	5.592205	0.96590	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1656	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	X	191;192;191	.	ENSP00000238823:L191X	L	-	2	0	FAM98A	33665842	0.997000	0.39634	0.997000	0.53966	0.993000	0.82548	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	TTA	-	FAM98A	-	pfam_Uncharacterised_FAM98		0.338	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	0	0	0	41	41	135	0.00	0.00	A	NM_015475		33812338	-1	25	84	21	65	tier1	no_errors	ENST00000238823	ensembl	human	known	74_37	nonsense	54.35	56.38	SNP	0.890	C	25	21
CCDC85A	114800	genome.wustl.edu	37	2	56612793	56612793	+	3'UTR	SNP	G	G	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr2:56612793G>C	ENST00000407595.2	+	0	3467				RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A											breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCATGGCAGATATTCTCTG	0.313													ENSG00000271894																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.*1303G>C	2.37:g.56612793G>C				R	SNP	-	NULL	ENST00000407595.2	37	NULL	CCDS46290.1	2																																																																																			-	RP11-482H16.1	-	-		0.313	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271894	Clone_based_vega_gene	protein_coding	OTTHUMT00000324993.1	0	0	0	31	31	100	0.00	0.00	G			56612793	+1	6	16	57	127	tier1	no_errors	ENST00000607540	ensembl	human	known	74_37	rna	9.38	11.19	SNP	0.000	C	6	57
NUP133	55746	genome.wustl.edu	37	1	229606361	229606361	+	Missense_Mutation	SNP	G	G	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:229606361G>C	ENST00000261396.3	-	15	2133	c.2042C>G	c.(2041-2043)tCc>tGc	p.S681C	NUP133_ENST00000537506.1_Missense_Mutation_p.S665C	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	681					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTCAGGTTGGATGGGATTTC	0.473													ENSG00000069248																																					0													122.0	119.0	120.0					1																	229606361		2203	4300	6503	SO:0001583	missense	0			-		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2042C>G	1.37:g.229606361G>C	ENSP00000261396:p.Ser681Cys		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.S681C	ENST00000261396.3	37	c.2042	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920085	0.17982	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.24350	1.86;1.86;1.86	5.56	1.41	0.22369	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.807892	0.12081	N	0.501327	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	P	0.45126	0.851	P	0.47626	0.552	T	0.11446	-1.0587	10	0.56958	D	0.05	-24.0942	5.4333	0.16466	0.0632:0.2276:0.4743:0.2349	.	681	Q8WUM0	NU133_HUMAN	C	681;681;681;665	ENSP00000261396:S681C;ENSP00000355640:S681C;ENSP00000443496:S665C	ENSP00000261396:S681C	S	-	2	0	NUP133	227672984	0.003000	0.15002	0.003000	0.11579	0.243000	0.25628	1.070000	0.30653	0.071000	0.16664	0.655000	0.94253	TCC	-	NUP133	-	pfam_Nucleoporin_Nup133/Nup155_C		0.473	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	0	0	0	68	68	108	0.00	0.00	G	NM_018230		229606361	-1	14	25	35	52	tier1	no_errors	ENST00000261396	ensembl	human	known	74_37	missense	28.00	32.47	SNP	0.002	C	14	35
DPEP1	1800	genome.wustl.edu	37	16	89703959	89703959	+	Splice_Site	SNP	C	C	T	rs142226072		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr16:89703959C>T	ENST00000393092.3	+	8	1143	c.852C>T	c.(850-852)gcC>gcT	p.A284A	DPEP1_ENST00000421184.1_Splice_Site_p.A284A|DPEP1_ENST00000261615.4_Splice_Site_p.A284A	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	284					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCCAAGTGGCCGGTAGGTGGG	0.567													ENSG00000015413	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19402	0.0		0.0	False		,,,				2504	0.0																0								C	,	4,4390	8.1+/-20.4	0,4,2193	75.0	85.0	82.0		852,852	-3.4	0.9	16	dbSNP_134	82	2,8590	2.2+/-6.3	0,2,4294	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	DPEP1	NM_001128141.1,NM_004413.3	,	0,6,6487	TT,TC,CC		0.0233,0.091,0.0462	,	284/412,284/412	89703959	6,12980	2197	4296	6493	SO:0001630	splice_region_variant	0			-		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.853+1C>T	16.37:g.89703959C>T			D3DX80|Q96AK2	Silent	SNP	pfam_Peptidase_M19	p.A284	ENST00000393092.3	37	c.852	CCDS10982.1	16																																																																																			rs142226072	DPEP1	-	pfam_Peptidase_M19		0.567	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	0	0	0	32	32	66	0.00	0.00	C	NM_001128141	Silent	89703959	+1	10	21	20	47	tier1	no_errors	ENST00000261615	ensembl	human	known	74_37	silent	33.33	30.43	SNP	0.955	T	10	20
CHAF1A	10036	genome.wustl.edu	37	19	4433417	4433417	+	Missense_Mutation	SNP	G	G	C	rs577677696		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:4433417G>C	ENST00000301280.5	+	13	2655	c.2554G>C	c.(2554-2556)Gac>Cac	p.D852H	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	852	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAAAGAGGACAGTGGCAG	0.632								Chromatin Structure					ENSG00000167670																																					0													46.0	46.0	46.0					19																	4433417		2203	4300	6503	SO:0001583	missense	0			-	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2554G>C	19.37:g.4433417G>C	ENSP00000301280:p.Asp852His		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A	p.D852H	ENST00000301280.5	37	c.2554	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254138	0.59212	.	.	ENSG00000167670	ENST00000301280	T	0.34667	1.35	5.62	5.62	0.85841	.	.	.	.	.	T	0.56819	0.2011	M	0.61703	1.905	0.51482	D	0.999928	D	0.69078	0.997	D	0.64042	0.921	T	0.52351	-0.8587	8	.	.	.	-44.3575	18.6935	0.91592	0.0:0.0:1.0:0.0	.	852	Q13111	CAF1A_HUMAN	H	852	ENSP00000301280:D852H	.	D	+	1	0	CHAF1A	4384417	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	9.319000	0.96338	2.653000	0.90120	0.650000	0.86243	GAC	-	CHAF1A	-	NULL		0.632	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	0	0	0	44	44	35	0.00	0.00	G	NM_005483		4433417	+1	16	20	38	24	tier1	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	29.63	45.45	SNP	1.000	C	16	38
MTMR9LP	339483	genome.wustl.edu	37	1	32706857	32706857	+	RNA	SNP	A	A	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:32706857A>T	ENST00000441044.1	-	0	364									myotubularin related protein 9-like, pseudogene																		CTGGGGAGGGACGTTCCTTTC	0.647													ENSG00000220785																									Melanoma(41;686 1336 34611 48972)												0																																												0			-			1p35.1	2010-10-28	2010-04-29	2010-10-28	ENSG00000220785	ENSG00000220785			27920	pseudogene	pseudogene			"""myotubularin related protein 9-like"""	MTMR9L		12477932	Standard	NR_026850		Approved		uc001buv.4		OTTHUMG00000007461		1.37:g.32706857A>T				R	SNP	-	NULL	ENST00000441044.1	37	NULL		1																																																																																			-	MTMR9LP	-	-		0.647	MTMR9LP-003	KNOWN	basic	processed_transcript	MTMR9LP	HGNC	pseudogene	OTTHUMT00000019609.2	0	0	0	77	77	40	0.00	0.00	A	NR_026850		32706857	-1	19	10	89	59	tier1	no_errors	ENST00000441044	ensembl	human	known	74_37	rna	17.59	14.29	SNP	0.000	T	19	89
ELN	2006	genome.wustl.edu	37	7	73471034	73471034	+	Missense_Mutation	SNP	G	G	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr7:73471034G>A	ENST00000252034.7	+	21	1747	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	ELN_ENST00000380576.5_Missense_Mutation_p.A450T|ELN_ENST00000458204.1_Missense_Mutation_p.A440T|ELN_ENST00000357036.5_Missense_Mutation_p.A455T|ELN_ENST00000380584.4_Missense_Mutation_p.A436T|ELN_ENST00000429192.1_Missense_Mutation_p.A455T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.A445T|ELN_ENST00000358929.4_Missense_Mutation_p.A450T|ELN_ENST00000445912.1_Missense_Mutation_p.A450T|ELN_ENST00000380553.4_Missense_Mutation_p.A333T|ELN_ENST00000380575.4_Missense_Mutation_p.A440T|ELN_ENST00000380562.4_Missense_Mutation_p.A450T|ELN_ENST00000320399.6_Missense_Mutation_p.A450T|ELN_ENST00000320492.7_Missense_Mutation_p.A388T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CGCCAAGGCTGCCAAGTACGG	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						ENSG00000049540																												Dom	yes		7	7q11.23	2006	elastin	yes	L	0													44.0	45.0	45.0					7																	73471034		2203	4300	6503	SO:0001583	missense	0			-		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1348G>A	7.37:g.73471034G>A	ENSP00000252034:p.Ala450Thr		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.A450T	ENST00000252034.7	37	c.1348	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613918	0.46631	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	1.42;1.43;0.88;1.36;1.35;1.29;1.43;1.32;1.42;1.42;1.35;1.36;1.39;1.44	3.91	3.91	0.45181	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.34043	D	0.655224	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.77557	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	T	0.52026	-0.8630	8	0.11485	T	0.65	-11.9038	11.7797	0.52006	0.0:0.0:1.0:0.0	.	450;419;388;445;440;450;440;455;455;450;333;380;436;450	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	450;450;450;388;445;450;440;436;440;455;455;419;333;450;450	ENSP00000389857:A450T;ENSP00000252034:A450T;ENSP00000351807:A450T;ENSP00000315607:A388T;ENSP00000392575:A445T;ENSP00000369936:A450T;ENSP00000369949:A440T;ENSP00000369958:A436T;ENSP00000403162:A440T;ENSP00000349540:A455T;ENSP00000391129:A455T;ENSP00000369926:A333T;ENSP00000369950:A450T;ENSP00000313565:A450T	ENSP00000252034:A450T	A	+	1	0	ELN	73108970	0.952000	0.32445	0.994000	0.49952	0.602000	0.36980	4.283000	0.58977	2.215000	0.71742	0.449000	0.29647	GCC	-	ELN	-	NULL		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	0	0	0	65	65	36	0.00	0.00	G	NM_000501		73471034	+1	11	6	44	27	tier1	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	20.00	18.18	SNP	0.997	A	11	44
TMPRSS9	360200	genome.wustl.edu	37	19	2396405	2396405	+	Intron	SNP	A	A	G			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:2396405A>G	ENST00000332578.3	+	2	142				TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9						plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCGTCGACCACCCCACT	0.617													ENSG00000178297																																					0																																										SO:0001627	intron_variant	0			-	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.143-132A>G	19.37:g.2396405A>G			Q6ZND6|Q7Z411	R	SNP	-	NULL	ENST00000332578.3	37	NULL	CCDS12088.1	19																																																																																			-	TMPRSS9	-	-		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	0	0	0	33	33	37	0.00	0.00	A	NM_182973		2396405	+1	8	12	23	37	tier1	no_errors	ENST00000592650	ensembl	human	known	74_37	rna	25.81	24.49	SNP	0.004	G	8	23
TRIM40	135644	genome.wustl.edu	37	6	30104709	30104709	+	5'UTR	SNP	C	C	T	rs533874564	byFrequency	TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr6:30104709C>T	ENST00000396581.1	+	0	282				TRIM40_ENST00000489892.1_3'UTR|TRIM40_ENST00000376724.2_5'UTR|TRIM40_ENST00000307859.4_5'Flank			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40						negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						TGCCTCCTTCCGACTGGGCCT	0.587													ENSG00000204614	C|||	6	0.00119808	0.0	0.0	5008	,	,		18290	0.0		0.0	False		,,,				2504	0.0061																0																																										SO:0001623	5_prime_UTR_variant	0			-	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.-105C>T	6.37:g.30104709C>T			Q5SRJ6|Q5SS36|Q8TD96	R	SNP	-	NULL	ENST00000396581.1	37	NULL		6																																																																																			-	TRIM40	-	-		0.587	TRIM40-001	KNOWN	basic	protein_coding	TRIM40	HGNC	protein_coding	OTTHUMT00000076117.2	0	0	0	14	14	59	0.00	0.00	C			30104709	+1	4	14	9	20	tier1	no_errors	ENST00000489892	ensembl	human	known	74_37	rna	30.77	41.18	SNP	0.000	T	4	9
N4BP2	55728	genome.wustl.edu	37	4	40108621	40108621	+	Missense_Mutation	SNP	C	C	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr4:40108621C>T	ENST00000261435.6	+	5	1891	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	492					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAGGAGAAGCACATGAATGG	0.333													ENSG00000078177																																					0													74.0	76.0	76.0					4																	40108621		2203	4300	6503	SO:0001583	missense	0			-	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1475C>T	4.37:g.40108621C>T	ENSP00000261435:p.Ala492Val		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.A492V	ENST00000261435.6	37	c.1475	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017730	0.93404	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.40225	1.04	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	L	0.43757	1.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60855	-0.7180	10	0.72032	D	0.01	-16.4039	19.5377	0.95260	0.0:1.0:0.0:0.0	.	492;492	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	492;412	ENSP00000261435:A492V	ENSP00000261435:A492V	A	+	2	0	N4BP2	39785016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.689000	0.91719	0.591000	0.81541	GCA	-	N4BP2	-	superfamily_P-loop_NTPase		0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	0	0	0	73	73	101	0.00	0.00	C	NM_018177		40108621	+1	55	52	53	61	tier1	no_errors	ENST00000261435	ensembl	human	known	74_37	missense	50.93	46.02	SNP	1.000	T	55	53
ACTC1	70	genome.wustl.edu	37	15	35083451	35083451	+	Missense_Mutation	SNP	A	A	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr15:35083451A>C	ENST00000290378.4	-	6	1509	c.854T>G	c.(853-855)aTg>aGg	p.M285R	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	285					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTCACACTTCATGATGCTATT	0.463													ENSG00000159251																																					0													266.0	226.0	240.0					15																	35083451		2201	4298	6499	SO:0001583	missense	0			-	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.854T>G	15.37:g.35083451A>C	ENSP00000290378:p.Met285Arg		P04270	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.M285R	ENST00000290378.4	37	c.854	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461814	0.63513	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94280	-3.39	5.49	5.49	0.81192	.	0.000000	0.64402	U	0.000005	D	0.96291	0.8790	M	0.84082	2.675	0.80722	D	1	B	0.20368	0.044	P	0.46208	0.507	D	0.95523	0.8596	10	0.87932	D	0	.	15.8884	0.79273	1.0:0.0:0.0:0.0	.	285	P68032	ACTC_HUMAN	R	285;250	ENSP00000290378:M285R	ENSP00000290378:M285R	M	-	2	0	ACTC1	32870743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.209000	0.71365	0.533000	0.62120	ATG	-	ACTC1	-	pfam_Actin-related,smart_Actin-related		0.463	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	0	0	0	49	49	36	0.00	0.00	A	NM_005159		35083451	-1	7	13	36	26	tier1	no_errors	ENST00000290378	ensembl	human	known	74_37	missense	16.28	33.33	SNP	1.000	C	7	36
UXT	8409	genome.wustl.edu	37	X	47511493	47511493	+	Missense_Mutation	SNP	T	T	G			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chrX:47511493T>G	ENST00000333119.3	-	6	462	c.407A>C	c.(406-408)cAc>cCc	p.H136P	UXT_ENST00000460840.1_5'UTR|ELK1_ENST00000343894.4_5'Flank|ELK1_ENST00000247161.3_5'Flank|ELK1_ENST00000468956.1_5'Flank|UXT_ENST00000335890.2_Missense_Mutation_p.H148P|ELK1_ENST00000592066.1_5'Flank|ELK1_ENST00000376983.3_5'Flank	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	136					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TAGCAACATGTGGATATGGGC	0.483													ENSG00000126756																																					0													121.0	95.0	104.0					X																	47511493		2203	4300	6503	SO:0001583	missense	0			-	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.407A>C	X.37:g.47511493T>G	ENSP00000327797:p.His136Pro		B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT	p.H148P	ENST00000333119.3	37	c.443	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	-	16.37	3.104620	0.56291	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.42513	0.97;0.97	5.43	4.3	0.51218	Prefoldin (1);Prefoldin subunit (1);	0.139088	0.48767	D	0.000170	T	0.24236	0.0587	N	0.14661	0.345	0.31651	N	0.646846	P	0.46784	0.884	B	0.42959	0.403	T	0.26326	-1.0106	10	0.59425	D	0.04	-12.3737	4.0931	0.09978	0.0:0.1949:0.0:0.8051	.	136	Q9UBK9	UXT_HUMAN	P	136;148	ENSP00000327797:H136P;ENSP00000337393:H148P	ENSP00000327797:H136P	H	-	2	0	UXT	47396437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.819000	0.53055	0.483000	0.47432	CAC	-	UXT	-	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT		0.483	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	0	0	0	73	73	108	0.00	0.00	T	NM_153477		47511493	-1	43	71	53	82	tier1	no_errors	ENST00000335890	ensembl	human	known	74_37	missense	44.79	46.41	SNP	1.000	G	43	53
PRDM11	56981	genome.wustl.edu	37	11	45117420	45117420	+	Missense_Mutation	SNP	T	T	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr11:45117420T>A	ENST00000530656.1	+	1	64	c.64T>A	c.(64-66)Tgc>Agc	p.C22S	PRDM11_ENST00000263765.4_Missense_Mutation_p.C22S			Q9NQV5	PRD11_HUMAN	PR domain containing 11	22							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ctgcctgagatgctcacctct	0.527													ENSG00000019485																									NSCLC(118;1511 1736 6472 36603 43224)												0													140.0	113.0	122.0					11																	45117420		2203	4299	6502	SO:0001583	missense	0			-	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.64T>A	11.37:g.45117420T>A	ENSP00000435976:p.Cys22Ser		Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.C22S	ENST00000530656.1	37	c.64		11	.	.	.	.	.	.	.	.	.	.	T	6.374	0.437132	0.12104	.	.	ENSG00000019485	ENST00000263765;ENST00000530656	T;T	0.41400	1.0;1.0	2.93	-3.1	0.05315	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	9	0.87932	D	0	.	0.4157	0.00448	0.3678:0.1234:0.1877:0.3211	.	22	Q9NQV5	PRD11_HUMAN	S	22	ENSP00000263765:C22S;ENSP00000435976:C22S	ENSP00000263765:C22S	C	+	1	0	PRDM11	45073996	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.037000	0.03557	-0.677000	0.05231	0.459000	0.35465	TGC	-	PRDM11	-	NULL		0.527	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	0	0	0	39	39	61	0.00	0.00	T	NM_020229		45117420	+1	19	39	22	45	tier1	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	46.34	46.43	SNP	0.000	A	19	22
NTN1	9423	genome.wustl.edu	37	17	9083207	9083207	+	Missense_Mutation	SNP	G	G	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:9083207G>C	ENST00000173229.2	+	4	1398	c.1291G>C	c.(1291-1293)Ggt>Cgt	p.G431R	NTN1_ENST00000538852.1_Missense_Mutation_p.G431R|NTN1_ENST00000546090.1_Missense_Mutation_p.G431R|RP11-85B7.2_ENST00000574307.2_RNA	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	431	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGGCGTGACGGGTATCACCTG	0.592													ENSG00000065320																																					0													73.0	62.0	66.0					17																	9083207		2203	4300	6503	SO:0001583	missense	0			-	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1291G>C	17.37:g.9083207G>C	ENSP00000173229:p.Gly431Arg		E9KL51	Missense_Mutation	SNP	pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.G431R	ENST00000173229.2	37	c.1291	CCDS11148.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.205698	0.95033	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.88	5.88	0.94601	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95370	0.8497	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95822	0.8850	10	0.62326	D	0.03	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	431	O95631	NET1_HUMAN	R	431;431;431;51	ENSP00000173229:G431R;ENSP00000443259:G431R;ENSP00000441611:G431R;ENSP00000389375:G51R	ENSP00000173229:G431R	G	+	1	0	NTN1	9023932	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.471000	0.97696	2.789000	0.95967	0.655000	0.94253	GGT	-	NTN1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.592	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN1	HGNC	protein_coding	OTTHUMT00000252583.1	0	0	0	48	48	46	0.00	0.00	G			9083207	+1	9	8	54	52	tier1	no_errors	ENST00000173229	ensembl	human	known	74_37	missense	14.29	13.33	SNP	1.000	C	9	54
HTR1E	3354	genome.wustl.edu	37	6	87725415	87725415	+	Silent	SNP	C	C	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr6:87725415C>T	ENST00000305344.5	+	2	1066	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	121					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGGACAGGTACTGGGCCATCA	0.557													ENSG00000168830																																					0													110.0	88.0	95.0					6																	87725415		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.363C>T	6.37:g.87725415C>T			E1P503|Q9P1Y1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.Y121	ENST00000305344.5	37	c.363	CCDS5006.1	6																																																																																			-	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	0	0	0	33	33	69	0.00	0.00	C	NM_000865		87725415	+1	8	18	19	59	tier1	no_errors	ENST00000305344	ensembl	human	known	74_37	silent	29.63	23.38	SNP	1.000	T	8	19
DAND5	199699	genome.wustl.edu	37	19	13084213	13084213	+	Missense_Mutation	SNP	G	G	C	rs576727348		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:13084213G>C	ENST00000317060.2	+	2	514	c.335G>C	c.(334-336)cGg>cCg	p.R112P	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	112	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.R112L(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTGTTCTCCCGGCCCGGCTGC	0.622													ENSG00000179284																																					1	Substitution - Missense(1)	lung(1)											84.0	83.0	84.0					19																	13084213		2203	4300	6503	SO:0001583	missense	0			-	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.335G>C	19.37:g.13084213G>C	ENSP00000323155:p.Arg112Pro			Missense_Mutation	SNP	pfam_DAN,pirsf_Cerberus	p.R112P	ENST00000317060.2	37	c.335	CCDS12291.1	19	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575109	0.28092	.	.	ENSG00000179284	ENST00000317060	T	0.30714	1.52	5.94	1.33	0.21861	DAN (1);	0.739627	0.11567	N	0.551209	T	0.40423	0.1116	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.64776	0.929	T	0.17501	-1.0367	10	0.37606	T	0.19	-11.0784	4.4983	0.11851	0.2523:0.0:0.5956:0.1521	.	112	Q8N907	DAND5_HUMAN	P	112	ENSP00000323155:R112P	ENSP00000323155:R112P	R	+	2	0	DAND5	12945213	0.047000	0.20315	0.000000	0.03702	0.136000	0.21042	0.414000	0.21164	0.091000	0.17302	0.655000	0.94253	CGG	-	DAND5	-	pfam_DAN,pirsf_Cerberus		0.622	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DAND5	HGNC	protein_coding	OTTHUMT00000452761.1	0	0	0	22	22	68	0.00	0.00	G	NM_152654		13084213	+1	8	22	28	69	tier1	no_errors	ENST00000317060	ensembl	human	known	74_37	missense	22.22	23.91	SNP	0.009	C	8	28
MACF1	23499	genome.wustl.edu	37	1	39888564	39888564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:39888564G>T	ENST00000372915.3	+	59	16243	c.16156G>T	c.(16156-16158)Gaa>Taa	p.E5386*	MACF1_ENST00000545844.1_Nonsense_Mutation_p.E3319*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E3319*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5418*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E3319*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E5381*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3821*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3298*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5386					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGATCCAAGAACAGAAGGT	0.453													ENSG00000127603																																					0													61.0	61.0	61.0					1																	39888564		2203	4300	6503	SO:0001587	stop_gained	0			-	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16156G>T	1.37:g.39888564G>T	ENSP00000362006:p.Glu5386*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E3319*	ENST00000372915.3	37	c.9955		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	14.981501|14.981501	0.99818|0.99818	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	.|T	.|0.77011	.|0.4068	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73987	.|-0.3809	.|4	0.66056|.	D|.	0.02|.	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	3319;5386;3319;3319;3298;3821;135|2431	.|.	ENSP00000289893:E3821X|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39661151|39661151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAA|AGA	-	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	0	0	0	54	54	144	0.00	0.00	G	NM_033044		39888564	+1	13	39	41	156	tier1	no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	24.07	20.00	SNP	1.000	T	13	41
FCER1A	2205	genome.wustl.edu	37	1	159277654	159277654	+	Missense_Mutation	SNP	A	A	G			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:159277654A>G	ENST00000368115.1	+	6	805	c.706A>G	c.(706-708)Att>Gtt	p.I236V	FCER1A_ENST00000368114.1_Missense_Mutation_p.I203V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	236					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCTCTTGAAGATTAAGAGAAC	0.388													ENSG00000179639																																					0													101.0	97.0	98.0					1																	159277654		2203	4300	6503	SO:0001583	missense	0			-	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.706A>G	1.37:g.159277654A>G	ENSP00000357097:p.Ile236Val			Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I236V	ENST00000368115.1	37	c.706	CCDS1184.1	1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335421	0.41398	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02177	4.85;4.41	5.37	1.54	0.23209	.	6.380780	0.00397	N	0.000050	T	0.00784	0.0026	L	0.50333	1.59	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.50591	-0.8810	10	0.14656	T	0.56	.	5.1399	0.14954	0.5099:0.1678:0.0:0.3223	.	236	P12319	FCERA_HUMAN	V	236;203	ENSP00000357097:I236V;ENSP00000357096:I203V	ENSP00000357096:I203V	I	+	1	0	FCER1A	157544278	0.061000	0.20836	0.159000	0.22649	0.535000	0.34838	0.538000	0.23160	0.083000	0.17047	0.528000	0.53228	ATT	-	FCER1A	-	NULL		0.388	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCER1A	HGNC	protein_coding	OTTHUMT00000090328.2	0	0	0	67	67	91	0.00	0.00	A	NM_002001		159277654	+1	52	75	39	67	tier1	no_errors	ENST00000368115	ensembl	human	known	74_37	missense	57.14	52.82	SNP	0.106	G	52	39
IRF6	3664	genome.wustl.edu	37	1	209969876	209969876	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:209969876T>A	ENST00000367021.3	-	4	368	c.196A>T	c.(196-198)Aag>Tag	p.K66*	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	66			K -> T (in PPS). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCTGGTACTTCCCTGTCTCT	0.512										HNSCC(57;0.16)			ENSG00000117595																																					0													84.0	60.0	68.0					1																	209969876		2203	4300	6503	SO:0001587	stop_gained	0			-	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.196A>T	1.37:g.209969876T>A	ENSP00000355988:p.Lys66*		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom	p.K66*	ENST00000367021.3	37	c.196	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	T	38	7.054665	0.98032	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	.	.	.	X	66	.	.	K	-	1	0	IRF6	208036499	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	7.516000	0.81772	2.145000	0.66743	0.533000	0.62120	AAG	-	IRF6	-	pfam_Interferon_reg_fact_D-bd_dom,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	0	0	0	40	40	73	0.00	0.00	T	NM_006147		209969876	-1	14	16	29	45	tier1	no_errors	ENST00000367021	ensembl	human	known	74_37	nonsense	32.56	26.23	SNP	1.000	A	14	29
FAM20A	54757	genome.wustl.edu	37	17	66537102	66537103	+	Intron	DEL	GA	GA	-			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	GA	GA	GA	-	GA	GA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:66537102_66537103delGA	ENST00000592554.1	-	8	1832				PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A						calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CCTCCCACCTGAGGGGGAGAAG	0.594													ENSG00000108950																																					0																																										SO:0001627	intron_variant	0				AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1110-3TC>-	17.37:g.66537102_66537103delGA			B2RN47|B2RN49|Q9UF95	R	DEL	-	NULL	ENST00000592554.1	37	NULL	CCDS11679.1	17																																																																																				FAM20A	-	-		0.594	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	0	0	0	51	51	61	0.00	0.00	GA	NM_017565		66537103	-1	27	35	49	42	tier1	no_errors	ENST00000226094	ensembl	human	known	74_37	rna	35.53	45.45	DEL	0.997:0.815	-	27	49
ZNF736	728927	genome.wustl.edu	37	7	63808779	63808780	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr7:63808779_63808780delAA	ENST00000423484.2	+	4	660_661	c.538_539delAA	c.(538-540)aaafs	p.K180fs	ZNF736_ENST00000355095.4_Frame_Shift_Del_p.K180fs			B4DX44	ZN736_HUMAN	zinc finger protein 736	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						AGAATGTGGCAAAGACTGTAGG	0.347													ENSG00000234444																																					0																																										SO:0001589	frameshift_variant	0					CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.538_539delAA	7.37:g.63808779_63808780delAA	ENSP00000400852:p.Lys180fs			Frame_Shift_Del	DEL	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.K180fs	ENST00000423484.2	37	c.538_539	CCDS55114.1	7																																																																																				ZNF736	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.347	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	0	0	0	47	47	9	0.00	0.00	AA	NM_001170905		63808780	+1	6	3	43	17	tier1	no_errors	ENST00000355095	ensembl	human	known	74_37	frame_shift_del	12.24	15.00	DEL	0.997:0.991	-	6	43
SPTBN5	51332	genome.wustl.edu	37	15	42153620	42153622	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	TAG	TAG	TAG	-	TAG	TAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr15:42153620_42153622delTAG	ENST00000320955.6	-	46	8037_8039	c.7810_7812delCTA	c.(7810-7812)ctadel	p.L2604del		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2604					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCTACCCATAGACCCTCACTG	0.552													ENSG00000137877																																					0																																										SO:0001651	inframe_deletion	0				AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7810_7812delCTA	15.37:g.42153620_42153622delTAG	ENSP00000317790:p.Leu2604del			In_Frame_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L2604in_frame_del	ENST00000320955.6	37	c.7812_7810		15																																																																																				SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.552	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	0	0	0	49	49	139	0.00	0.00	TAG	NM_016642		42153622	-1	24	45	43	67	tier1	no_errors	ENST00000320955	ensembl	human	known	74_37	in_frame_del	35.82	40.18	DEL	0.010:0.006:0.003	-	24	43
PNPT1	87178	genome.wustl.edu	37	2	55882064	55882064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr2:55882064delC	ENST00000447944.2	-	18	1552	c.1466delG	c.(1465-1467)tgtfs	p.C489fs		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	489					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTTCCGCCACATGCAGATGC	0.363													ENSG00000138035																																					0													77.0	83.0	81.0					2																	55882064		2203	4300	6503	SO:0001589	frameshift_variant	0				BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1466delG	2.37:g.55882064delC	ENSP00000400646:p.Cys489fs		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Frame_Shift_Del	DEL	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_R-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_R-bd_bac/org-type,superfamily_-bd_OB-fold,smart_KH_dom,smart_R-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_R-bd_dom,tigrfam_PNPase	p.C489fs	ENST00000447944.2	37	c.1466	CCDS1856.1	2																																																																																				PNPT1	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase		0.363	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	0	0	0	44	44	44	0.00	0.00	C	NM_033109		55882064	-1	11	17	48	65	tier1	no_errors	ENST00000415374	ensembl	human	known	74_37	frame_shift_del	18.64	20.73	DEL	1.000	-	11	48
TP53	7157	genome.wustl.edu	37	17	7578284	7578284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:7578284delC	ENST00000269305.4	-	6	754	c.565delG	c.(565-567)gccfs	p.A189fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A189fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.A189fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	189	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in a sporadic cancer; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A189_V197delAPPQHLIRV(4)|p.A189T(3)|p.G187fs*16(2)|p.A189P(2)|p.A189fs*19(1)|p.D186_P191delDGLAPP(1)|p.?(1)|p.A189S(1)|p.A189fs*58(1)|p.G187fs*64(1)|p.L188_P191del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGAGGGGCCAGACCTAAG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	26	Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Deletion - Frameshift(4)|Complex - frameshift(1)|Unknown(1)	skin(4)|bone(4)|large_intestine(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)											87.0	78.0	81.0					17																	7578284		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;		AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.565delG	17.37:g.7578284delC	ENSP00000269305:p.Ala189fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.A189fs	ENST00000269305.4	37	c.565	CCDS11118.1	17																																																																																				TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	78	78	78	0.00	0.00	C	NM_000546		7578284	-1	59	71	18	35	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	76.62	66.98	DEL	0.997	-	59	18
CHERP	10523	genome.wustl.edu	37	19	16643459	16643459	+	Silent	SNP	G	G	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:16643459G>A	ENST00000198939.6	-	5	660	c.624C>T	c.(622-624)ttC>ttT	p.F208F	CHERP_ENST00000546361.2_Silent_p.F208F|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCCGCAGCTCGAAGTGTGCCC	0.647													ENSG00000085872																																					0													54.0	64.0	61.0					19																	16643459		2175	4275	6450	SO:0001819	synonymous_variant	0			-	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.624C>T	19.37:g.16643459G>A				Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_R_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.F208	ENST00000198939.6	37	c.624		19																																																																																			-	CHERP	-	superfamily_ENTH_VHS		0.647	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	0	0	0	130	130	34	0.00	0.00	G	NM_006387		16643459	-1	161	28	37	5	tier1	no_errors	ENST00000546361	ensembl	human	known	74_37	silent	80.90	84.85	SNP	0.700	A	161	37
LOC645752	645752	genome.wustl.edu	37	15	78208175	78208175	+	lincRNA	SNP	C	C	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr15:78208175C>A	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCACTCATGCCATCTGTCACT	0.617													ENSG00000260776																																					0																																												0			-																													15.37:g.78208175C>A				R	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			-	RP11-114H24.2	-	-		0.617	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	0	0	0	159	159	9	0.00	0.00	C			78208175	-1	47	3	119	7	tier1	no_errors	ENST00000563349	ensembl	human	known	74_37	rna	28.31	30.00	SNP	1.000	A	47	119
PLXNB3	5365	genome.wustl.edu	37	X	153044436	153044436	+	Missense_Mutation	SNP	T	T	A			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chrX:153044436T>A	ENST00000361971.5	+	36	5786	c.5672T>A	c.(5671-5673)cTg>cAg	p.L1891Q	SRPK3_ENST00000489426.1_5'UTR|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000370104.1_5'Flank|SRPK3_ENST00000393786.3_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.L1914Q|SRPK3_ENST00000370101.3_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1544Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1891					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTGCAGCTGGCCTGCCGC	0.657													ENSG00000198753																																					0													17.0	15.0	16.0					X																	153044436		2191	4283	6474	SO:0001583	missense	0			-	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5672T>A	X.37:g.153044436T>A	ENSP00000355378:p.Leu1891Gln		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1914Q	ENST00000361971.5	37	c.5741	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536319	0.85812	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.03386	4.52;4.5;3.95	4.77	4.77	0.60923	.	0.081973	0.49916	D	0.000129	T	0.22244	0.0536	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.992	T	0.02581	-1.1138	10	0.87932	D	0	.	12.5861	0.56419	0.0:0.0:0.0:1.0	.	1544;1914;1891	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	Q	1914;1891;1544	ENSP00000442736:L1914Q;ENSP00000355378:L1891Q;ENSP00000445569:L1544Q	ENSP00000355378:L1891Q	L	+	2	0	PLXNB3	152697630	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.957000	0.87870	1.678000	0.50952	0.340000	0.21749	CTG	-	PLXNB3	-	NULL		0.657	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	0	0	0	74	74	5	0.00	0.00	T			153044436	+1	34	9	52	3	tier1	no_errors	ENST00000538966	ensembl	human	known	74_37	missense	39.53	75.00	SNP	1.000	A	34	52
MYO15A	51168	genome.wustl.edu	37	17	18082113	18082113	+	Missense_Mutation	SNP	C	C	T			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:18082113C>T	ENST00000205890.5	+	66	10860	c.10522C>T	c.(10522-10524)Cac>Tac	p.H3508Y	MYO15A_ENST00000418233.3_Missense_Mutation_p.A789V|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000583062.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3508	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTGGCCGTGCACGTGGAGAA	0.612													ENSG00000091536																																					0													127.0	142.0	137.0					17																	18082113		2150	4267	6417	SO:0001583	missense	0			-	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10522C>T	17.37:g.18082113C>T	ENSP00000205890:p.His3508Tyr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.H3508Y	ENST00000205890.5	37	c.10522	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462998	0.63513	.	.	ENSG00000091536	ENST00000205890	D	0.86769	-2.17	5.58	5.58	0.84498	FERM domain (1);	.	.	.	.	D	0.88138	0.6356	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.83355	-0.0001	9	0.10111	T	0.7	.	19.1853	0.93641	0.0:1.0:0.0:0.0	.	3508	Q9UKN7	MYO15_HUMAN	Y	3508	ENSP00000205890:H3508Y	ENSP00000205890:H3508Y	H	+	1	0	MYO15A	18022838	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	7.600000	0.82769	2.637000	0.89404	0.555000	0.69702	CAC	-	MYO15A	-	pfscan_FERM_domain		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	0	0	1	38	38	42	0.00	2.33	C	NM_016239		18082113	+1	17	15	53	75	tier1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	24.29	16.67	SNP	1.000	T	17	53
PTMA	5757	genome.wustl.edu	37	2	232577666	232577666	+	3'UTR	SNP	A	A	G			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr2:232577666A>G	ENST00000341369.7	+	0	632				PTMA_ENST00000409683.1_3'UTR|PTMA_ENST00000409321.1_3'UTR|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409115.3_3'UTR	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha						transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TCGAGTAGAGAGGCCCGCCCG	0.522													ENSG00000187514																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.*105A>G	2.37:g.232577666A>G			Q15249|Q15592	R	SNP	-	NULL	ENST00000341369.7	37	NULL	CCDS42833.1	2																																																																																			-	PTMA	-	-		0.522	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1	0	0	0	60	60	7	0.00	0.00	A			232577666	+1	6	0	35	4	tier1	no_errors	ENST00000466801	ensembl	human	known	74_37	rna	14.63	0.00	SNP	0.836	G	6	35
ANKRD30BP2	149992	genome.wustl.edu	37	21	14424331	14424331	+	IGR	SNP	T	T	C			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr21:14424331T>C								RNU6-614P (4321 upstream) : AL050302.1 (317599 downstream)																							aatatgtcagtatgttcagct	0.388													ENSG00000224309																																					0																																										SO:0001628	intergenic_variant	0			-																													21.37:g.14424331T>C				R	SNP	-	NULL		37	NULL		21																																																																																			-	ANKRD30BP2	-	-	0	0.388					ANKRD30BP2	HGNC			0	0	0	153	153	0	0.00	0.00	T			14424331	+1	32	1	117	0	tier1	no_errors	ENST00000471407	ensembl	human	known	74_37	rna	21.48	100.00	SNP	0.095	C	32	117
TPRXL	348825	genome.wustl.edu	37	3	14105925	14105927	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr3:14105925_14105927delCAG	ENST00000424053.1	+	3	796_798	c.249_251delCAG	c.(247-252)cccagc>ccc	p.S88del	TPRXL_ENST00000326972.8_In_Frame_Del_p.S88del|TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000429201.1_In_Frame_Del_p.S88del			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gcagcagccccagcagcagcagc	0.68													ENSG00000180438																																					0																																										SO:0001651	inframe_deletion	0				AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.249_251delCAG	3.37:g.14105934_14105936delCAG	ENSP00000400448:p.Ser88del		Q8NAM5	In_Frame_Del	DEL	NULL	p.S87in_frame_del	ENST00000424053.1	37	c.249_251		3																																																																																				TPRXL	-	NULL		0.680	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1	0	0	0	34	34	2	0.00	0.00	CAG	NR_002223		14105927	+1	4	0	27	5	tier1	no_errors	ENST00000326972	ensembl	human	known	74_37	in_frame_del	12.90	0.00	DEL	0.252:0.271:0.284	-	4	27
VDAC1	7416	genome.wustl.edu	37	5	133308469	133308469	+	Missense_Mutation	SNP	T	T	G			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr5:133308469T>G	ENST00000265333.3	-	9	1089	c.845A>C	c.(844-846)cAa>cCa	p.Q282P	VDAC1_ENST00000395044.3_Missense_Mutation_p.Q282P|VDAC1_ENST00000395047.2_Missense_Mutation_p.Q282P	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	282					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTATGCTTGAAATTCCAG	0.378													ENSG00000213585																									NSCLC(127;1776 1806 35523 41489 48154)												0													31.0	32.0	32.0					5																	133308469		2200	4279	6479	SO:0001583	missense	0			-		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.845A>C	5.37:g.133308469T>G	ENSP00000265333:p.Gln282Pro		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk/Tom40,prints_Porin_Euk	p.Q282P	ENST00000265333.3	37	c.845	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001219	0.54254	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.45668	0.89;0.89;0.89	5.15	5.15	0.70609	.	0.118551	0.64402	D	0.000019	T	0.38639	0.1048	L	0.34521	1.04	0.58432	D	0.999999	B	0.16802	0.019	B	0.29862	0.108	T	0.31558	-0.9939	10	0.87932	D	0	.	15.4286	0.75075	0.0:0.0:0.0:1.0	.	282	P21796	VDAC1_HUMAN	P	282	ENSP00000265333:Q282P;ENSP00000378484:Q282P;ENSP00000378487:Q282P	ENSP00000265333:Q282P	Q	-	2	0	VDAC1	133336368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.798000	0.85924	2.288000	0.76882	0.533000	0.62120	CAA	-	VDAC1	-	NULL		0.378	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	0	0	0	43	43	0	0.00	0.00	T			133308469	-1	6	0	45	0	tier1	no_errors	ENST00000265333	ensembl	human	known	74_37	missense	11.76	0.00	SNP	1.000	G	6	45
