#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	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_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACSS3	79611	genome.wustl.edu	37	12	81536947	81536947	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:81536947A>T	ENST00000548058.1	+	5	1752	c.842A>T	c.(841-843)cAg>cTg	p.Q281L	ACSS3_ENST00000261206.3_Missense_Mutation_p.Q280L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	281						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCAAAAGCCCAGTCACATGAC	0.443																																																	0													129.0	117.0	121.0					12																	81536947		2203	4300	6503	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.842A>T	12.37:g.81536947A>T	ENSP00000449535:p.Gln281Leu		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q281L	ENST00000548058.1	37	c.842	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242521	0.58995	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10005	2.92;2.92	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.197183	0.56097	D	0.000032	T	0.09291	0.0229	N	0.16743	0.435	0.80722	D	1	B	0.33777	0.425	B	0.36808	0.233	T	0.37244	-0.9714	10	0.30854	T	0.27	-9.2964	16.0529	0.80775	1.0:0.0:0.0:0.0	.	281	Q9H6R3	ACSS3_HUMAN	L	281;280	ENSP00000449535:Q281L;ENSP00000261206:Q280L	ENSP00000261206:Q280L	Q	+	2	0	ACSS3	80061078	0.999000	0.42202	0.995000	0.50966	0.990000	0.78478	5.011000	0.64011	2.257000	0.74773	0.459000	0.35465	CAG	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.443	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0.00	62	0	A	NM_024560		81536947	+1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	T
ADAM17	6868	genome.wustl.edu	37	2	9630607	9630607	+	Missense_Mutation	SNP	C	C	T	rs147275585		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:9630607C>T	ENST00000310823.3	-	19	2356	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	725					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTTGATAATGCGAACCGATGC	0.532																																																	0								C	HIS/ARG	0,4406		0,0,2203	64.0	60.0	61.0		2174	5.5	1.0	2	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADAM17	NM_003183.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	725/825	9630607	2,13004	2203	4300	6503	SO:0001583	missense	0			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.2174G>A	2.37:g.9630607C>T	ENSP00000309968:p.Arg725His		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.R725H	ENST00000310823.3	37	c.2174	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866144	0.71949	0.0	2.33E-4	ENSG00000151694	ENST00000310823	T	0.24538	1.85	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.46911	-0.9157	10	0.52906	T	0.07	.	19.3715	0.94490	0.0:1.0:0.0:0.0	.	444;725;725	Q53RS1;B2RNB2;P78536	.;.;ADA17_HUMAN	H	725	ENSP00000309968:R725H	ENSP00000309968:R725H	R	-	2	0	ADAM17	9548058	1.000000	0.71417	0.975000	0.42487	0.085000	0.17905	5.749000	0.68704	2.570000	0.86706	0.456000	0.33151	CGC	ADAM17	-	NULL	ENSG00000151694		0.532	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	-	0.00	53	0	C			9630607	-1	tier1	rs147275585	no_errors	ENST00000310823	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T
ADAM22	53616	genome.wustl.edu	37	7	87778344	87778344	+	Missense_Mutation	SNP	G	G	A	rs200398630		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:87778344G>A	ENST00000265727.7	+	18	1617	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	ADAM22_ENST00000398204.4_Missense_Mutation_p.R513H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R513H|ADAM22_ENST00000315984.7_Missense_Mutation_p.R513H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R513H			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	513	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGATATTCGTGAAACGTGC	0.383																																																	0													74.0	65.0	68.0					7																	87778344		1823	4078	5901	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1538G>A	7.37:g.87778344G>A	ENSP00000265727:p.Arg513His		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R513H	ENST00000265727.7	37	c.1538	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158657	0.57368	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.35	-0.269	0.12930	Blood coagulation inhibitor, Disintegrin (5);	0.385463	0.28317	N	0.015789	T	0.04182	0.0116	N	0.03050	-0.425	0.29375	N	0.863703	P;P;P;B	0.47841	0.901;0.667;0.715;0.002	B;B;B;B	0.43301	0.415;0.2;0.301;0.001	T	0.32824	-0.9892	10	0.62326	D	0.03	.	6.177	0.20449	0.2733:0.4576:0.269:0.0	.	565;513;513;513	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	H	513;513;513;513;513;480	ENSP00000381262:R513H;ENSP00000381260:R513H;ENSP00000265727:R513H;ENSP00000315900:R513H;ENSP00000381267:R513H;ENSP00000381261:R480H	ENSP00000265727:R513H	R	+	2	0	ADAM22	87616280	0.839000	0.29477	1.000000	0.80357	0.998000	0.95712	0.215000	0.17562	0.239000	0.21243	0.655000	0.94253	CGT	ADAM22	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000008277		0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0.00	28	0	G	NM_021723		87778344	+1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.999	A
ADCY8	114	genome.wustl.edu	37	8	132051802	132051802	+	Missense_Mutation	SNP	C	C	G	rs529610958		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:132051802C>G	ENST00000286355.5	-	1	2870	c.778G>C	c.(778-780)Gca>Cca	p.A260P	ADCY8_ENST00000377928.3_Missense_Mutation_p.A260P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	260					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCGAGGCCTGCTGCCAGGATC	0.657										HNSCC(32;0.087)																																							0													45.0	40.0	41.0					8																	132051802		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.778G>C	8.37:g.132051802C>G	ENSP00000286355:p.Ala260Pro			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A260P	ENST00000286355.5	37	c.778	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447725	0.63178	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.48522	0.81;0.81	5.46	5.46	0.80206	.	0.072872	0.56097	D	0.000036	T	0.41419	0.1158	L	0.38175	1.15	0.45046	D	0.99806	P;P	0.41041	0.736;0.736	B;B	0.38156	0.266;0.266	T	0.25606	-1.0127	10	0.35671	T	0.21	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	260;260	E7EVL1;P40145	.;ADCY8_HUMAN	P	260	ENSP00000286355:A260P;ENSP00000367161:A260P	ENSP00000286355:A260P	A	-	1	0	ADCY8	132120984	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.532000	0.67154	2.580000	0.87095	0.455000	0.32223	GCA	ADCY8	-	NULL	ENSG00000155897		0.657	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	38	0	C			132051802	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	G
AHRR	57491	genome.wustl.edu	37	5	344029	344029	+	Silent	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr5:344029G>T	ENST00000505113.1	+	2	68	c.24G>T	c.(22-24)ccG>ccT	p.P8P	AHRR_ENST00000515206.1_Silent_p.P4P|AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.P8P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	8					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGATCCCGCCGGGGGAGTGCA	0.682																																																	0													31.0	39.0	36.0					5																	344029		1908	4105	6013	SO:0001819	synonymous_variant	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.24G>T	5.37:g.344029G>T			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.P8	ENST00000505113.1	37	c.24	CCDS56355.1	5																																																																																			AHRR	-	NULL	ENSG00000063438		0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1		0.00	43	0	G	NM_020731		344029	+1			no_errors	ENST00000316418	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.878	T
AQR	9716	genome.wustl.edu	37	15	35198735	35198735	+	Intron	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:35198735G>C	ENST00000156471.5	-	18	2057					NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAAAAATATAGGTCACCATAC	0.353																																																	0													121.0	111.0	114.0					15																	35198735		1900	4133	6033	SO:0001627	intron_variant	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1831+10C>G	15.37:g.35198735G>C			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	NULL	p.T614	ENST00000156471.5	37	c.1842	CCDS42013.1	15																																																																																			AQR	-	NULL	ENSG00000021776		0.353	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	-	0.00	67	0	G	NM_014691		35198735	-1	tier1	-	no_errors	ENST00000543879	ensembl	human	known	74_37	silent	68.52	17	37	SNP	0.000	C
ARHGEF11	9826	genome.wustl.edu	37	1	156914188	156914188	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:156914188C>T	ENST00000361409.2	-	30	3651	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.G1010E|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G386E|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	970	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTCAGGGGTCCCTCATGGAT	0.498																																																	0													132.0	126.0	128.0					1																	156914188		2203	4300	6503	SO:0001583	missense	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2909G>A	1.37:g.156914188C>T	ENSP00000354644:p.Gly970Glu		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.G1010E	ENST00000361409.2	37	c.3029	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448232	0.84101	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	D;D;D	0.91351	-2.83;-2.83;-2.83	5.13	5.13	0.70059	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.52532	D	0.000064	D	0.96216	0.8766	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96702	0.9519	10	0.87932	D	0	-28.2944	18.3554	0.90356	0.0:1.0:0.0:0.0	.	386;970;1010	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	E	1010;970;386	ENSP00000357177:G1010E;ENSP00000354644:G970E;ENSP00000313470:G386E	ENSP00000313470:G386E	G	-	2	0	ARHGEF11	155180812	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	5.846000	0.69444	2.659000	0.90383	0.561000	0.74099	GGA	ARHGEF11	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000132694		0.498	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	-	0.00	46	0	C	NM_198236		156914188	-1	tier1	-	no_errors	ENST00000368194	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	T
ATP8B5P	158381	genome.wustl.edu	37	9	35469202	35469202	+	IGR	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:35469202C>T								ATP8B5P (18090 upstream) : RUSC2 (69426 downstream)																							AATGCTACCACTTCCAGATTT	0.403																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.35469202C>T				RNA	SNP	-	NULL		37	NULL		9																																																																																			ATP8B5P	-	-	ENSG00000179766	0	0.403					ATP8B5P	HGNC			-	0.00	93	0	C			35469202	+1	tier1	-	no_errors	ENST00000329395	ensembl	human	known	74_37	rna	64.86	39	72	SNP	0.990	T
BCHE	590	genome.wustl.edu	37	3	165548074	165548074	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:165548074G>A	ENST00000264381.3	-	2	914	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	250					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCACTTTGCAGAATGGCTCTG	0.438																																																	0													96.0	99.0	98.0					3																	165548074		2203	4300	6503	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.748C>T	3.37:g.165548074G>A			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L250	ENST00000264381.3	37	c.748	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0.00	48	0	G			165548074	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	16.67	100	20	SNP	0.896	A
BTG1	694	genome.wustl.edu	37	12	92539233	92539234	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:92539233_92539234insA	ENST00000256015.3	-	1	439_440	c.78_79insT	c.(76-81)ctccgcfs	p.R27fs	RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	27					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCCTTGGTGCGGAGAAACTTGG	0.693			T	MYC	BCLL																																			Dom	yes		12	12q22	694	"""B-cell translocation gene 1, anti-proliferative"""		L	0																																										SO:0001589	frameshift_variant	0				CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.78_79insT	12.37:g.92539233_92539234insA	ENSP00000256015:p.Arg27fs		P31607	Frame_Shift_Ins	INS	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.R26fs	ENST00000256015.3	37	c.79_78	CCDS9043.1	12																																																																																			BTG1	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	ENSG00000133639		0.693	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG1	HGNC	protein_coding	OTTHUMT00000407227.1		0.00	44	0	-			92539234	-1	tier1		no_errors	ENST00000256015	ensembl	human	known	74_37	frame_shift_ins	39.39	40	26	INS	1.000:1.000	A
C2orf71	388939	genome.wustl.edu	37	2	29294078	29294078	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:29294078C>T	ENST00000331664.5	-	1	3049	c.3050G>A	c.(3049-3051)aGa>aAa	p.R1017K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1017	Pro-rich.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGCAGGTCTGTAAGAGGA	0.657																																																	0													29.0	34.0	33.0					2																	29294078		1955	4150	6105	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3050G>A	2.37:g.29294078C>T	ENSP00000332809:p.Arg1017Lys			Missense_Mutation	SNP	NULL	p.R1017K	ENST00000331664.5	37	c.3050	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220832	0.39201	.	.	ENSG00000179270	ENST00000331664	T	0.26518	1.73	5.29	4.42	0.53409	.	0.341064	0.27773	N	0.017914	T	0.26629	0.0651	M	0.68952	2.095	0.09310	N	1	B	0.28783	0.222	B	0.26202	0.067	T	0.18555	-1.0333	10	0.46703	T	0.11	-3.5249	9.6623	0.39962	0.0:0.7844:0.1408:0.0748	.	1017	A6NGG8	CB071_HUMAN	K	1017	ENSP00000332809:R1017K	ENSP00000332809:R1017K	R	-	2	0	C2orf71	29147582	0.124000	0.22315	0.003000	0.11579	0.410000	0.31052	2.100000	0.41777	1.224000	0.43551	0.491000	0.48974	AGA	C2orf71	-	NULL	ENSG00000179270		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	-	0.00	26	0	C	NM_001029883		29294078	-1	tier1	-	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	22.73	34	10	SNP	0.127	T
C2orf72	257407	genome.wustl.edu	37	2	231911623	231911623	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:231911623C>A	ENST00000373640.4	+	3	851	c.775C>A	c.(775-777)Ctg>Atg	p.L259M	C2orf72_ENST00000477463.1_3'UTR	NM_001144994.1	NP_001138466.1	A6NCS6	CB072_HUMAN	chromosome 2 open reading frame 72	259																	TGAGGAGGAGCTGCCACTAAC	0.498																																																	0													64.0	64.0	64.0					2																	231911623		692	1591	2283	SO:0001583	missense	0				CCDS46539.1	2q37.1	2012-08-06			ENSG00000204128	ENSG00000204128			27418	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001144994		Approved	LOC257407	uc002vrl.4	A6NCS6	OTTHUMG00000153996	ENST00000373640.4:c.775C>A	2.37:g.231911623C>A	ENSP00000362743:p.Leu259Met			Missense_Mutation	SNP	NULL	p.L259M	ENST00000373640.4	37	c.775	CCDS46539.1	2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025912	0.35701	.	.	ENSG00000204128	ENST00000373640	.	.	.	5.27	3.44	0.39384	.	0.301574	0.18274	N	0.146232	T	0.56171	0.1967	L	0.47716	1.5	0.33469	D	0.585965	P	0.50943	0.94	P	0.53450	0.726	T	0.66452	-0.5920	9	0.52906	T	0.07	-9.6087	10.6597	0.45696	0.3491:0.6509:0.0:0.0	.	259	A6NCS6	CB072_HUMAN	M	259	.	ENSP00000362743:L259M	L	+	1	2	C2orf72	231619867	0.997000	0.39634	0.996000	0.52242	0.036000	0.12997	0.075000	0.14686	0.762000	0.33152	0.563000	0.77884	CTG	C2orf72	-	NULL	ENSG00000204128		0.498	C2orf72-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C2orf72	HGNC	protein_coding	OTTHUMT00000333376.2	-	0.00	80	0	C	NM_001144994		231911623	+1	tier1	-	no_errors	ENST00000373640	ensembl	human	putative	74_37	missense	14.94	74	13	SNP	1.000	A
CA10	56934	genome.wustl.edu	37	17	50235244	50235244	+	5'UTR	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:50235244C>T	ENST00000285273.4	-	0	1014				CA10_ENST00000451037.2_5'UTR|CA10_ENST00000442502.2_5'UTR|CA10_ENST00000340813.6_5'UTR|CA10_ENST00000570565.1_Intron	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CACACACTTCCGAGCGAGTGC	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.-98G>A	17.37:g.50235244C>T			B2R7J0|B4DGL6	RNA	SNP	-	NULL	ENST00000285273.4	37	NULL	CCDS32684.1	17																																																																																			CA10	-	-	ENSG00000154975		0.582	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	-	0.00	30	0	C	NM_020178		50235244	-1	tier1	-	no_errors	ENST00000573294	ensembl	human	known	74_37	rna	50.00	10	10	SNP	0.011	T
CACNG2	10369	genome.wustl.edu	37	22	36960889	36960889	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr22:36960889C>A	ENST00000300105.6	-	4	1462	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	161					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGTCTCCGGCATTGGCAGAT	0.547																																																	0													105.0	119.0	114.0					22																	36960889		2203	4300	6503	SO:0001583	missense	0			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.481G>T	22.37:g.36960889C>A	ENSP00000300105:p.Ala161Ser		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin	p.A161S	ENST00000300105.6	37	c.481	CCDS13931.1	22	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153167	0.38021	.	.	ENSG00000166862	ENST00000300105	D	0.89552	-2.53	5.54	5.54	0.83059	.	0.054044	0.64402	D	0.000001	D	0.87489	0.6190	L	0.51914	1.62	0.80722	D	1	B	0.16802	0.019	B	0.18561	0.022	T	0.82894	-0.0231	10	0.48119	T	0.1	-15.8677	19.4694	0.94956	0.0:1.0:0.0:0.0	.	161	Q9Y698	CCG2_HUMAN	S	161	ENSP00000300105:A161S	ENSP00000300105:A161S	A	-	1	0	CACNG2	35290835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.684000	0.68197	2.612000	0.88384	0.563000	0.77884	GCC	CACNG2	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000166862		0.547	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG2	HGNC	protein_coding	OTTHUMT00000075500.2	-	0.00	31	0	C			36960889	-1	tier1	-	no_errors	ENST00000300105	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.998	A
CALN1	83698	genome.wustl.edu	37	7	71868318	71868318	+	Intron	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:71868318C>T	ENST00000395276.2	-	2	238				CALN1_ENST00000412588.1_Missense_Mutation_p.E13K|CALN1_ENST00000395275.2_Missense_Mutation_p.E13K|CALN1_ENST00000431984.1_Intron			Q9BXU9	CABP8_HUMAN	calneuron 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TTCTCATTCTCGGGCTTCCCC	0.637																																																	0													11.0	11.0	11.0					7																	71868318		1668	3760	5428	SO:0001627	intron_variant	0			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395276.2:c.6+8724G>A	7.37:g.71868318C>T			J3KQA7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E13K	ENST00000395276.2	37	c.37	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108608	0.37242	.	.	ENSG00000183166	ENST00000395275;ENST00000412588	T;T	0.69435	-0.4;-0.4	4.94	3.01	0.34805	.	.	.	.	.	T	0.68007	0.2954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69273	-0.5188	6	0.59425	D	0.04	.	6.0152	0.19598	0.0:0.6192:0.2704:0.1104	.	.	.	.	K	13	ENSP00000378690:E13K;ENSP00000391882:E13K	ENSP00000378690:E13K	E	-	1	0	CALN1	71506254	0.969000	0.33509	0.998000	0.56505	0.915000	0.54546	1.389000	0.34453	2.275000	0.75901	0.655000	0.94253	GAG	CALN1	-	NULL	ENSG00000183166		0.637	CALN1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000252013.3	-	0.00	101	0	C	NM_031468		71868318	-1	tier1	-	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	22.67	116	34	SNP	0.991	T
CCDC115	84317	genome.wustl.edu	37	2	131099484	131099484	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:131099484T>A	ENST00000259229.2	-	2	368	c.145A>T	c.(145-147)Atg>Ttg	p.M49L	CCDC115_ENST00000409127.1_Missense_Mutation_p.M44L|IMP4_ENST00000259239.3_5'Flank|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Missense_Mutation_p.M44L	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	49						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TTGGCGCCCATCGCGTAGCGA	0.672																																																	0													38.0	41.0	40.0					2																	131099484		2203	4300	6503	SO:0001583	missense	0			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.145A>T	2.37:g.131099484T>A	ENSP00000259229:p.Met49Leu		B4DJ47|Q9BR88	Missense_Mutation	SNP	NULL	p.M49L	ENST00000259229.2	37	c.145	CCDS2159.1	2	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993007	0.54041	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.95035	-3.59;-3.59;-3.59	4.81	4.81	0.61882	.	0.043330	0.85682	D	0.000000	D	0.95462	0.8526	L	0.58583	1.82	0.34677	D	0.724351	D;P;P;P	0.53151	0.958;0.736;0.942;0.579	P;B;D;B	0.67231	0.699;0.432;0.95;0.23	D	0.95741	0.8783	10	0.26408	T	0.33	-16.3201	10.946	0.47301	0.0:0.0:0.0:1.0	.	44;49;49;44	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	L	49;44;44	ENSP00000259229:M49L;ENSP00000387301:M44L;ENSP00000399756:M44L	ENSP00000259229:M49L	M	-	1	0	CCDC115	130815954	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.534000	0.45676	2.157000	0.67596	0.533000	0.62120	ATG	CCDC115	-	NULL	ENSG00000136710		0.672	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC115	HGNC	protein_coding	OTTHUMT00000254524.2	-	0.00	22	0	T	NM_032357		131099484	-1	tier1	-	no_errors	ENST00000442217	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	A
CCDC136	64753	genome.wustl.edu	37	7	128451963	128451963	+	Missense_Mutation	SNP	G	G	A	rs570468395		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:128451963G>A	ENST00000297788.4	+	13	2505	c.2138G>A	c.(2137-2139)cGg>cAg	p.R713Q	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	713						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTAGAGGAGCGGAAGAGGCTG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20631	0.0		0.0	False		,,,				2504	0.001																0													66.0	68.0	67.0					7																	128451963		1917	4142	6059	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2138G>A	7.37:g.128451963G>A	ENSP00000297788:p.Arg713Gln		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.R713Q	ENST00000297788.4	37	c.2138	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.078098|4.078098	0.76528|0.76528	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T	.|0.55588	.|0.51;0.51	5.93|5.93	3.15|3.15	0.36227|0.36227	.|.	.|0.334859	.|0.25951	.|N	.|0.027241	T|T	0.45756|0.45756	0.1358|0.1358	M|M	0.71581|0.71581	2.175|2.175	0.26268|0.26268	N|N	0.978464|0.978464	.|P;P;P	.|0.51057	.|0.941;0.656;0.517	.|B;B;B	.|0.39027	.|0.288;0.188;0.077	T|T	0.40776|0.40776	-0.9545|-0.9545	5|10	.|0.30078	.|T	.|0.28	-15.005|-15.005	8.8063|8.8063	0.34941|0.34941	0.2404:0.0:0.7596:0.0|0.2404:0.0:0.7596:0.0	.|.	.|713;713;713	.|Q96JN2-4;Q96JN2-2;Q96JN2	.|.;.;CC136_HUMAN	R|Q	590|713;713;713;304	.|ENSP00000297788:R713Q;ENSP00000417991:R304Q	.|ENSP00000297788:R713Q	G|R	+|+	1|2	0|0	CCDC136|CCDC136	128239199|128239199	0.417000|0.417000	0.25432|0.25432	0.991000|0.991000	0.47740|0.47740	0.990000|0.990000	0.78478|0.78478	0.587000|0.587000	0.23909|0.23909	0.851000|0.851000	0.35264|0.35264	0.561000|0.561000	0.74099|0.74099	GGA|CGG	CCDC136	-	NULL	ENSG00000128596		0.567	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	-	0.00	33	0	G	NM_022742		128451963	+1	tier1	-	no_errors	ENST00000297788	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.917	A
CCDC40	55036	genome.wustl.edu	37	17	78064145	78064146	+	Intron	INS	-	-	CAC	rs10693712|rs74672482	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:78064145_78064146insCAC	ENST00000397545.4	+	17	2859				CCDC40_ENST00000573903.1_Intron|CCDC40_ENST00000374877.3_In_Frame_Ins_p.1013_1014insT	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			tgcacgaacaagggacgcgcgc	0.624														3279	0.654752	0.6369	0.5403	5008	,	,		19685	0.6062		0.6978	False		,,,				2504	0.7658																0																																										SO:0001627	intron_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+462->CAC	17.37:g.78064145_78064146insCAC			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	In_Frame_Ins	INS	pfam_E3_ubiquit_lig_BRE1	p.1014in_frame_insT	ENST00000397545.4	37	c.3040_3041	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.624	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2		0.00	11	0	-	XM_371082		78064146	+1	tier1		no_errors	ENST00000374877	ensembl	human	known	74_37	in_frame_ins	42.86	8	6	INS	0.064:0.067	CAC
CD46	4179	genome.wustl.edu	37	1	207930371	207930371	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:207930371A>T	ENST00000358170.2	+	2	266	c.110A>T	c.(109-111)gAg>gTg	p.E37V	CD46_ENST00000360212.2_Missense_Mutation_p.E37V|CD46_ENST00000361067.1_Missense_Mutation_p.E37V|CD46_ENST00000367042.1_Missense_Mutation_p.E37V|CD46_ENST00000357714.1_Missense_Mutation_p.E37V|CD46_ENST00000367041.1_Missense_Mutation_p.E37V|CD46_ENST00000480003.1_Missense_Mutation_p.E37V|CD46_ENST00000367047.1_Intron|CD46_ENST00000322918.5_Missense_Mutation_p.E37V|CD46_ENST00000354848.1_Missense_Mutation_p.E37V|CD46_ENST00000441839.2_Missense_Mutation_p.E37V|CD46_ENST00000322875.4_Missense_Mutation_p.E37V|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	37	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCTGTGAGGAGCCACCAACA	0.413																																																	0													71.0	70.0	71.0					1																	207930371		2203	4300	6503	SO:0001583	missense	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.110A>T	1.37:g.207930371A>T	ENSP00000350893:p.Glu37Val		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E37V	ENST00000358170.2	37	c.110	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	A	7.612	0.675021	0.14841	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	3.72	-7.45	0.01374	Complement control module (2);Sushi/SCR/CCP (3);	2.743750	0.01450	N	0.015440	T	0.31949	0.0813	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21309	0.054;0.003;0.019;0.054;0.006;0.006;0.054;0.023;0.054;0.012;0.054;0.006;0.003;0.018	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19946	0.025;0.004;0.015;0.027;0.007;0.011;0.027;0.021;0.027;0.009;0.027;0.011;0.003;0.027	T	0.19910	-1.0291	10	0.20046	T	0.44	.	1.7734	0.03016	0.4944:0.1554:0.1855:0.1647	.	37;37;37;37;37;37;37;37;37;37;37;37;37;37	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	37	ENSP00000350893:E37V;ENSP00000346912:E37V;ENSP00000314664:E37V;ENSP00000356009:E37V;ENSP00000356008:E37V;ENSP00000350346:E37V;ENSP00000313875:E37V;ENSP00000413543:E37V;ENSP00000354358:E37V;ENSP00000353342:E37V;ENSP00000418471:E37V	ENSP00000313875:E37V	E	+	2	0	CD46	205996994	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.424000	0.02448	-1.946000	0.01035	-1.642000	0.00770	GAG	CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.413	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	-	0.00	89	0	A	NM_172361		207930371	+1	tier1	-	no_errors	ENST00000322875	ensembl	human	known	74_37	missense	32.77	80	39	SNP	0.000	T
CD9	928	genome.wustl.edu	37	12	6309666	6309667	+	Start_Codon_Ins	INS	-	-	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:6309666_6309667insT	ENST00000382518.1	+	0	437_438				CD9_ENST00000009180.4_Start_Codon_Ins|CD9_ENST00000382515.2_5'Flank			P21926	CD9_HUMAN	CD9 molecule						blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						AGCCCTCACCATGCCGGTCAAA	0.634																																																	0																																										SO:0001582	initiator_codon_variant	0			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.2dupT	12.37:g.6309667_6309667dupT			D3DUQ9|Q5J7W6|Q96ES4	Frame_Shift_Ins	INS	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.M1fs	ENST00000382518.1	37	c.1_2	CCDS8540.1	12																																																																																			CD9	-	NULL	ENSG00000010278		0.634	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	CD9	HGNC	protein_coding	OTTHUMT00000103348.1		0.00	68	0	-			6309667	+1	tier1		no_errors	ENST00000009180	ensembl	human	known	74_37	frame_shift_ins	26.58	58	21	INS	1.000:1.000	T
CHPF2	54480	genome.wustl.edu	37	7	150934477	150934477	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:150934477G>A	ENST00000035307.2	+	4	2542	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Silent_p.L335L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	343					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCCGGAACCTGACCGTGCTGA	0.617																																																	0													46.0	46.0	46.0					7																	150934477		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1029G>A	7.37:g.150934477G>A			B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.L343	ENST00000035307.2	37	c.1029	CCDS34779.1	7																																																																																			CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0.00	43	0	G	NM_019015		150934477	+1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	silent	22.03	46	13	SNP	1.000	A
COL6A2	1292	genome.wustl.edu	37	21	47552161	47552161	+	Missense_Mutation	SNP	G	G	A	rs372523558		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr21:47552161G>A	ENST00000300527.4	+	28	2859	c.2755G>A	c.(2755-2757)Gca>Aca	p.A919T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	919	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCACGTGGGCGCAGGCGTGGT	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16227	0.001		0.0	False		,,,				2504	0.0																0								G	THR/ALA	1,4391		0,1,2195	23.0	24.0	23.0		2755	-4.0	0.0	21		23	1,8597		0,1,4298	no	missense	COL6A2	NM_001849.3	58	0,2,6493	AA,AG,GG		0.0116,0.0228,0.0154	benign	919/1020	47552161	2,12988	2196	4299	6495	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2755G>A	21.37:g.47552161G>A	ENSP00000300527:p.Ala919Thr		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A919T	ENST00000300527.4	37	c.2755	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	4.734	0.136524	0.09032	2.28E-4	1.16E-4	ENSG00000142173	ENST00000300527	D	0.83914	-1.78	4.18	-3.99	0.04069	von Willebrand factor, type A (3);	1.572510	0.03859	N	0.273673	T	0.52191	0.1719	N	0.01219	-0.95	0.09310	N	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.49341	-0.8950	10	0.12103	T	0.63	-0.451	2.2905	0.04137	0.5037:0.097:0.1158:0.2835	.	919	P12110	CO6A2_HUMAN	T	919	ENSP00000300527:A919T	ENSP00000300527:A919T	A	+	1	0	COL6A2	46376589	0.000000	0.05858	0.011000	0.14972	0.168000	0.22595	-0.265000	0.08644	-0.906000	0.03866	0.313000	0.20887	GCA	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0.00	85	0	G			47552161	+1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	73.24	19	52	SNP	0.013	A
CPD	1362	genome.wustl.edu	37	17	28758892	28758893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:28758892_28758893insT	ENST00000225719.4	+	8	2196_2197	c.2120_2121insT	c.(2119-2124)tattccfs	p.S708fs	CPD_ENST00000543464.2_Frame_Shift_Ins_p.S461fs	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	708	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCACTTTCTTATTCCAAGGTAG	0.342																																																	0																																										SO:0001589	frameshift_variant	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2122dupT	17.37:g.28758894_28758894dupT	ENSP00000225719:p.Ser708fs		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Frame_Shift_Ins	INS	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S708fs	ENST00000225719.4	37	c.2120_2121	CCDS11257.1	17																																																																																			CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.342	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3		0.00	64	0	-	NM_001304		28758893	+1	tier1		no_errors	ENST00000225719	ensembl	human	known	74_37	frame_shift_ins	28.26	33	13	INS	1.000:1.000	T
CPVL	54504	genome.wustl.edu	37	7	29152428	29152428	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:29152428C>G	ENST00000409850.1	-	7	826	c.180G>C	c.(178-180)ttG>ttC	p.L60F	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.L60F|CPVL_ENST00000265394.5_Missense_Mutation_p.L60F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	60						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CGACCAAACTCAATTCTCTTC	0.428																																																	0													66.0	65.0	65.0					7																	29152428		2203	4300	6503	SO:0001583	missense	0			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.180G>C	7.37:g.29152428C>G	ENSP00000387164:p.Leu60Phe		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.L60F	ENST00000409850.1	37	c.180	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913136	0.33815	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850	T;T;T	0.15372	2.43;2.43;2.43	5.83	4.96	0.65561	.	1.190510	0.05886	N	0.627294	T	0.34337	0.0894	M	0.78637	2.42	0.52099	D	0.999942	P	0.52316	0.952	P	0.50896	0.653	T	0.03829	-1.1000	10	0.52906	T	0.07	-22.1843	8.0448	0.30542	0.0:0.7644:0.0:0.2356	.	60	Q9H3G5	CPVL_HUMAN	F	60	ENSP00000265394:L60F;ENSP00000379572:L60F;ENSP00000387164:L60F	ENSP00000265394:L60F	L	-	3	2	CPVL	29118953	0.993000	0.37304	0.473000	0.27253	0.018000	0.09664	2.409000	0.44583	1.475000	0.48197	-0.258000	0.10820	TTG	CPVL	-	NULL	ENSG00000106066		0.428	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	-	0.00	43	0	C	NM_019029		29152428	-1	tier1	-	no_errors	ENST00000265394	ensembl	human	known	74_37	missense	16.00	63	12	SNP	0.976	G
CSDE1	7812	genome.wustl.edu	37	1	115277064	115277064	+	Splice_Site	DEL	T	T	-			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:115277064delT	ENST00000358528.4	-	7	1007	c.581delA	c.(580-582)aag>ag	p.K194fs	CSDE1_ENST00000369530.1_Splice_Site_p.K209fs|CSDE1_ENST00000438362.2_Splice_Site_p.K240fs|CSDE1_ENST00000530886.1_Splice_Site_p.K64fs|CSDE1_ENST00000261443.5_Splice_Site_p.K163fs|CSDE1_ENST00000534699.1_Splice_Site_p.K194fs|CSDE1_ENST00000339438.6_Splice_Site_p.K163fs	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	194	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACACTTACCTTCATGGCACA	0.358																																																	0													72.0	73.0	73.0					1																	115277064		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.582+1A>-	1.37:g.115277064delT			A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Del	DEL	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.K209fs	ENST00000358528.4	37	c.626	CCDS30812.1	1																																																																																			CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	ENSG00000009307		0.358	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1		0.00	34	0	T	NM_007158	Frame_Shift_Del	115277064	-1	tier1		no_errors	ENST00000369530	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	1.000	-
CYB5B	80777	genome.wustl.edu	37	16	69458712	69458713	+	Nonsense_Mutation	DNP	GC	GC	AT			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:69458712_69458713GC>AT	ENST00000512062.1	+	1	285_286	c.114_115GC>AT	c.(112-117)tgGCtt>tgATtt	p.38_39WL>*F	CYB5B_ENST00000307892.8_Nonsense_Mutation_p.42_43WL>*F|CYB5B_ENST00000515314.1_Nonsense_Mutation_p.38_39WL>*F|CYB5B_ENST00000561792.1_Nonsense_Mutation_p.38_39WL>*F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	38	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				AGGAACTGTGGCTTGTGATCCA	0.594																																																	0																																										SO:0001587	stop_gained	0				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	Exception_encountered	16.37:g.69458712_69458713delinsAT	ENSP00000423679:p.W38_L39delins*F		A8K6B1|Q96CC3|Q9BT35	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Aquaporin-like,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.W42*|p.L43F	ENST00000512062.1	37	c.126|c.127		16																																																																																			CYB5B	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd	ENSG00000103018		0.594	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	-	0.00	64	0	G|C	NM_030579		69458712|69458713	+1	tier1	-	no_errors	ENST00000307892	ensembl	human	known	74_37	nonsense|missense	58.59|56.57	41|43	58|56	SNP	1.000	A|T
CYP2E1	1571	genome.wustl.edu	37	10	135345740	135345740	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:135345740G>T	ENST00000463117.2	+	6	872	c.600G>T	c.(598-600)atG>atT	p.M200I	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.M200I			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	200					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAAGGCTGATGTATTTGTTTA	0.478									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													126.0	113.0	117.0					10																	135345740		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.600G>T	10.37:g.135345740G>T	ENSP00000440689:p.Met200Ile		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.M200I	ENST00000463117.2	37	c.600	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	G	3.041	-0.197561	0.06259	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.59	2.74	0.32292	.	0.369364	0.37178	N	0.002215	T	0.45498	0.1345	N	0.12831	0.26	0.24069	N	0.995986	P;B	0.40834	0.73;0.24	B;B	0.40565	0.333;0.246	T	0.31364	-0.9946	10	0.25751	T	0.34	.	9.6041	0.39624	0.175:0.0:0.825:0.0	.	96;200	Q59EW1;P05181	.;CP2E1_HUMAN	I	200;200;113;63	ENSP00000440689:M200I;ENSP00000252945:M200I;ENSP00000412754:M113I;ENSP00000397299:M63I	ENSP00000252945:M200I	M	+	3	0	CYP2E1	135195730	0.244000	0.23889	0.004000	0.12327	0.120000	0.20174	0.761000	0.26489	0.866000	0.35629	0.655000	0.94253	ATG	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000130649		0.478	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	-	0.00	31	0	G	NM_000773		135345740	+1	tier1	-	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	33.33	14	7	SNP	0.597	T
CYP4Z2P	163720	genome.wustl.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:47325354G>A	ENST00000505841.1	-	0	1175					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CATCTGGAAAGGTAATGGGTT	0.438																																																	0																																												0			AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325354G>A			Q66ZJ5	RNA	SNP	-	NULL	ENST00000505841.1	37	NULL		1																																																																																			CYP4Z2P	-	-	ENSG00000154198		0.438	CYP4Z2P-002	KNOWN	basic	processed_transcript	CYP4Z2P	HGNC	pseudogene	OTTHUMT00000361094.1		0.00	65	0	G	NR_002788		47325354	-1			no_errors	ENST00000505841	ensembl	human	known	74_37	rna	8.57	64	6	SNP	0.965	A
DEFB105A	245908	genome.wustl.edu	37	8	7679549	7679549	+	Missense_Mutation	SNP	C	C	T	rs200757797		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:7679549C>T	ENST00000334773.6	-	3	268	c.218G>A	c.(217-219)tGc>tAc	p.C73Y		NM_152250.1	NP_689463.1	Q8NG35	D105A_HUMAN	defensin, beta 105A	73					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)|skin(1)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CTGTCTGCAGCAGAGAAAGTT	0.483																																																	0													2.0	2.0	2.0					8																	7679549		1339	2913	4252	SO:0001583	missense	0			AB089180	CCDS34832.1	8p23.1	2011-03-29	2005-02-28	2005-03-03	ENSG00000186562	ENSG00000186562		"""Defensins, beta"""	18087	protein-coding gene	gene with protein product			"""defensin, beta 105"""	DEFB105		11854508, 12734011	Standard	NM_152250		Approved	DEFB-5	uc011kwp.2	Q8NG35	OTTHUMG00000150011	ENST00000334773.6:c.218G>A	8.37:g.7679549C>T	ENSP00000334330:p.Cys73Tyr		A1A581|Q8IZN8	Missense_Mutation	SNP	NULL	p.C73Y	ENST00000334773.6	37	c.218	CCDS34832.1	8	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747567	0.30955	.	.	ENSG00000186562	ENST00000334773	D	0.99270	-5.66	3.1	2.16	0.27623	.	0.160540	0.30076	N	0.010461	D	0.98298	0.9436	.	.	.	0.20764	N	0.999856	.	.	.	.	.	.	D	0.96415	0.9307	7	0.87932	D	0	-9.8301	7.9374	0.29937	0.0:0.7452:0.2548:0.0	.	.	.	.	Y	73	ENSP00000334330:C73Y	ENSP00000334330:C73Y	C	-	2	0	DEFB105A	7716959	0.871000	0.30034	0.185000	0.23176	0.020000	0.10135	2.543000	0.45752	0.810000	0.34279	0.543000	0.68304	TGC	DEFB105A	-	NULL	ENSG00000186562		0.483	DEFB105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB105A	HGNC	protein_coding	OTTHUMT00000315758.2	-	0.00	14	0	C	NM_152250		7679549	-1	tier1	rs200757797	no_errors	ENST00000334773	ensembl	human	known	74_37	missense	50.00	2	2	SNP	0.244	T
DGKI	9162	genome.wustl.edu	37	7	137374666	137374666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:137374666C>A	ENST00000288490.5	-	2	484	c.484G>T	c.(484-486)Gag>Tag	p.E162*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.E162*|DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Nonsense_Mutation_p.E162*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	162					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTCTGGGCTCCTTGGCTGGA	0.512																																																	0													77.0	70.0	73.0					7																	137374666		2203	4300	6503	SO:0001587	stop_gained	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.484G>T	7.37:g.137374666C>A	ENSP00000288490:p.Glu162*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E162*	ENST00000288490.5	37	c.484	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.631850	0.98399	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.69	5.69	0.88448	.	0.050416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.586	0.91189	0.0:1.0:0.0:0.0	.	.	.	.	X	110;162;162;162	.	ENSP00000288490:E162X	E	-	1	0	DGKI	137025206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.377000	0.66184	2.683000	0.91414	0.563000	0.77884	GAG	DGKI	-	NULL	ENSG00000157680		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0.00	20	0	C	NM_004717		137374666	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	nonsense	34.29	23	12	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51064999	51064999	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:51064999C>T	ENST00000301180.5	+	5	492	c.458C>T	c.(457-459)tCt>tTt	p.S153F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	153	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GATGAGGGCTCTCTGAGACGC	0.478																																																	0													104.0	91.0	96.0					12																	51064999		2203	4300	6503	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.458C>T	12.37:g.51064999C>T	ENSP00000301180:p.Ser153Phe		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S153F	ENST00000301180.5	37	c.458	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243477	0.79912	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.27890	1.64	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.978;0.998	P;P	0.62014	0.853;0.897	T	0.43163	-0.9408	10	0.52906	T	0.07	-15.9485	19.1481	0.93476	0.0:1.0:0.0:0.0	.	153;163	Q9P265;E9PHD6	DIP2B_HUMAN;.	F	163;153	ENSP00000301180:S153F	ENSP00000301180:S153F	S	+	2	0	DIP2B	49351266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.762000	0.94881	0.591000	0.81541	TCT	DIP2B	-	NULL	ENSG00000066084		0.478	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0.00	43	0	C	NM_173602		51064999	+1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	T
DNAAF1	123872	genome.wustl.edu	37	16	84203815	84203815	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:84203815G>A	ENST00000378553.5	+	8	1505	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	461	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGAGGATGGAGATCAAGAGCC	0.612																																																	0													53.0	53.0	53.0					16																	84203815		2199	4300	6499	SO:0001583	missense	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1381G>A	16.37:g.84203815G>A	ENSP00000367815:p.Asp461Asn		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.D461N	ENST00000378553.5	37	c.1381	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	0.587	-0.834583	0.02713	.	.	ENSG00000154099	ENST00000378553	T	0.28255	1.62	0.622	0.622	0.17648	.	.	.	.	.	T	0.18087	0.0434	L	0.33485	1.01	0.19575	N	0.999965	B;B	0.28552	0.114;0.215	B;B	0.20184	0.016;0.028	T	0.23368	-1.0190	8	0.17369	T	0.5	.	.	.	.	.	225;461	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	N	461	ENSP00000367815:D461N	ENSP00000367815:D461N	D	+	1	0	DNAAF1	82761316	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.121000	0.15667	0.592000	0.29728	0.462000	0.41574	GAT	DNAAF1	-	NULL	ENSG00000154099		0.612	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	-	0.00	116	0	G	NM_178452		84203815	+1	tier1	-	no_errors	ENST00000378553	ensembl	human	known	74_37	missense	29.75	111	47	SNP	0.003	A
CFAP70	118491	genome.wustl.edu	37	10	75035029	75035029	+	Intron	SNP	G	G	A	rs563237538		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:75035029G>A	ENST00000310715.3	-	23	3004				DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Intron|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Intron|TTC18_ENST00000401621.2_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN								extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					gagccaccgcgcccagccAAC	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18489	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0																														ENST00000310715.3:c.2883+174C>T	10.37:g.75035029G>A			C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	RNA	SNP	-	NULL	ENST00000310715.3	37	NULL	CCDS7324.3	10																																																																																			DNAJC9-AS1	-	-	ENSG00000236756		0.502	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJC9-AS1	HGNC	protein_coding		-	0.00	26	0	G			75035029	+1	tier1	-	no_errors	ENST00000440197	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.001	A
DNTTIP2	30836	genome.wustl.edu	37	1	94338752	94338752	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:94338752T>C	ENST00000436063.2	-	4	1882	c.1825A>G	c.(1825-1827)Att>Gtt	p.I609V	DNTTIP2_ENST00000460191.1_5'Flank	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCAGGTGTAATGACGGCTTTC	0.289																																																	0													140.0	120.0	126.0					1																	94338752		1804	4069	5873	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1825A>G	1.37:g.94338752T>C	ENSP00000411010:p.Ile609Val		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.I609V	ENST00000436063.2	37	c.1825	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040967	0.35989	.	.	ENSG00000067334	ENST00000436063	T	0.18338	2.22	5.82	1.09	0.20402	.	0.242919	0.40728	N	0.001021	T	0.05227	0.0139	L	0.40543	1.245	0.43187	D	0.995013	B	0.28378	0.209	B	0.25759	0.063	T	0.20571	-1.0271	10	0.51188	T	0.08	.	8.2642	0.31804	0.0:0.2948:0.0:0.7052	.	609	Q5QJE6	TDIF2_HUMAN	V	609	ENSP00000411010:I609V	ENSP00000411010:I609V	I	-	1	0	DNTTIP2	94111340	1.000000	0.71417	0.788000	0.31933	0.903000	0.53119	2.611000	0.46334	0.152000	0.19188	0.533000	0.62120	ATT	DNTTIP2	-	NULL	ENSG00000067334		0.289	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	-	0.00	55	0	T	NM_014597		94338752	-1	tier1	-	no_errors	ENST00000436063	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.636	C
DOCK10	55619	genome.wustl.edu	37	2	225710010	225710010	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:225710010G>C	ENST00000258390.7	-	21	2458	c.2391C>G	c.(2389-2391)caC>caG	p.H797Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.H791Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	797	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTATCTGATCGTGTTTCATCA	0.373																																																	0													73.0	64.0	67.0					2																	225710010		1884	4122	6006	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2391C>G	2.37:g.225710010G>C	ENSP00000258390:p.His797Gln		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H797Q	ENST00000258390.7	37	c.2391	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296009	0.23650	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.13307	2.6;2.6	5.43	-1.29	0.09288	.	0.382234	0.31624	N	0.007332	T	0.08358	0.0208	N	0.26042	0.785	0.26857	N	0.968039	B;B	0.26602	0.154;0.093	B;B	0.28232	0.087;0.087	T	0.18618	-1.0331	10	0.62326	D	0.03	.	6.8183	0.23843	0.548:0.1184:0.3336:0.0	.	797;791	Q96BY6;B3FL70	DOC10_HUMAN;.	Q	791;797	ENSP00000386694:H791Q;ENSP00000258390:H797Q	ENSP00000258390:H797Q	H	-	3	2	DOCK10	225418254	0.996000	0.38824	0.759000	0.31340	0.555000	0.35460	0.462000	0.21956	-0.449000	0.07117	-2.048000	0.00412	CAC	DOCK10	-	NULL	ENSG00000135905		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0.00	38	0	G			225710010	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.982	C
DPY19L3	147991	genome.wustl.edu	37	19	32927459	32927459	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:32927459G>C	ENST00000342179.5	+	5	651	c.436G>C	c.(436-438)Gtt>Ctt	p.V146L	DPY19L3_ENST00000392250.2_Missense_Mutation_p.V146L|DPY19L3_ENST00000586987.1_Missense_Mutation_p.V146L	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	146						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTTATATAGAGTTCTACCCAT	0.303																																																	0													67.0	78.0	74.0					19																	32927459		2198	4273	6471	SO:0001583	missense	0				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.436G>C	19.37:g.32927459G>C	ENSP00000344937:p.Val146Leu		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.V146L	ENST00000342179.5	37	c.436	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	9.871	1.199078	0.22121	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56611	0.45;0.45	5.87	4.84	0.62591	.	0.463988	0.23758	N	0.044851	T	0.35158	0.0922	N	0.26042	0.785	0.28365	N	0.920265	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	10	0.28530	T	0.3	-8.8252	6.5515	0.22436	0.1568:0.0:0.6962:0.147	.	146	Q6ZPD9	D19L3_HUMAN	L	146	ENSP00000376081:V146L;ENSP00000344937:V146L	ENSP00000315672:V146L	V	+	1	0	DPY19L3	37619299	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.993000	0.29680	1.492000	0.48499	0.655000	0.94253	GTT	DPY19L3	-	pfam_Dpy-19	ENSG00000178904		0.303	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	-	0.00	78	0	G	NM_207325		32927459	+1	tier1	-	no_errors	ENST00000342179	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	C
EFCAB3	146779	genome.wustl.edu	37	17	60484452	60484452	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:60484452T>C	ENST00000305286.3	+	8	824	c.746T>C	c.(745-747)gTg>gCg	p.V249A	EFCAB3_ENST00000450662.2_Missense_Mutation_p.V301A	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	249							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TTCCCTAATGTGGATGGGGTG	0.358																																																	0													115.0	113.0	114.0					17																	60484452		2203	4300	6503	SO:0001583	missense	0			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.746T>C	17.37:g.60484452T>C	ENSP00000302649:p.Val249Ala		J3KQM8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.V301A	ENST00000305286.3	37	c.902	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	T	9.764	1.170758	0.21621	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.58797	0.31;0.34	5.79	4.65	0.58169	.	0.538223	0.17011	N	0.190509	T	0.48874	0.1524	L	0.56769	1.78	0.31751	N	0.63453	B	0.32918	0.39	B	0.27380	0.079	T	0.57997	-0.7714	10	0.38643	T	0.18	.	8.5047	0.33179	0.1723:0.0:0.0:0.8277	.	249	Q8N7B9	EFCB3_HUMAN	A	301;249	ENSP00000403932:V301A;ENSP00000302649:V249A	ENSP00000302649:V249A	V	+	2	0	EFCAB3	57838184	0.996000	0.38824	0.996000	0.52242	0.071000	0.16799	1.899000	0.39818	2.216000	0.71823	0.377000	0.23210	GTG	EFCAB3	-	NULL	ENSG00000172421		0.358	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	-	0.00	45	0	T	NM_173503		60484452	+1	tier1	-	no_errors	ENST00000450662	ensembl	human	known	74_37	missense	38.33	37	23	SNP	0.987	C
EIF4A2	1974	genome.wustl.edu	37	3	186504226	186504226	+	Intron	SNP	T	T	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:186504226T>C	ENST00000323963.5	+	7	691				EIF4A2_ENST00000356531.5_Intron|RP11-573D15.9_ENST00000577781.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Intron|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GACGCTTGGCTTCAGACATTT	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0																																										SO:0001627	intron_variant	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.628-65T>C	3.37:g.186504226T>C			D3DNU9|Q53XJ6|Q96B90|Q96EA8	RNA	SNP	-	NULL	ENST00000323963.5	37	NULL	CCDS3282.1	3																																																																																			SNORA63	-	-	ENSG00000200418		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000200418	RFAM	protein_coding	OTTHUMT00000344609.1	-	0.00	18	0	T	NM_001967		186504226	+1	tier1	-	no_errors	ENST00000363548	ensembl	human	novel	74_37	rna	65.85	14	27	SNP	0.509	C
TAOK3	51347	genome.wustl.edu	37	12	118604652	118604653	+	Intron	INS	-	-	ACAC	rs376430378|rs373259313|rs200569755|rs7487392		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:118604652_118604653insACAC	ENST00000392533.3	-	18	2390				AC026366.1_ENST00000408353.1_RNA|TAOK3_ENST00000537952.1_Intron|TAOK3_ENST00000419821.2_Intron	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					cacacacacatacacacacaca	0.421																																																	0																																										SO:0001627	intron_variant	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1900-4820->GTGT	12.37:g.118604657_118604660dupACAC			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	RNA	INS	-	NULL	ENST00000392533.3	37	NULL	CCDS9188.1	12																																																																																			AC026366.1	-	-	ENSG00000221280		0.421	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221280	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000401456.2		0.00	10	0	-	NM_016281		118604653	+1	tier1		no_errors	ENST00000408353	ensembl	human	novel	74_37	rna	11.54	23	3	INS	0.002:0.000	ACAC
RP11-187C18.5	0	genome.wustl.edu	37	9	45415927	45415927	+	lincRNA	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:45415927G>T	ENST00000442207.1	-	0	49																											GGAGGAGGATGGCAGTTAGGC	0.592																																																	0																																												0																															9.37:g.45415927G>T				RNA	SNP	-	NULL	ENST00000442207.1	37	NULL		9																																																																																			RP11-187C18.5	-	-	ENSG00000235037		0.592	RP11-187C18.5-001	KNOWN	basic	lincRNA	ENSG00000235037	Clone_based_vega_gene	lincRNA	OTTHUMT00000037020.1	-	0.00	12	0	G			45415927	-1	tier1	-	no_errors	ENST00000442207	ensembl	human	known	74_37	rna	83.33	2	10	SNP	0.999	T
MMP11	4320	genome.wustl.edu	37	22	24124522	24124522	+	Silent	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr22:24124522C>T	ENST00000215743.3	+	7	1237	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	AP000349.1_ENST00000598975.1_Missense_Mutation_p.R231Q	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	395					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TCTGGGGTCCCGAGAAGAACA	0.642																																																	0													72.0	65.0	68.0					22																	24124522		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1185C>T	22.37:g.24124522C>T			Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	NULL	p.R231Q	ENST00000215743.3	37	c.692	CCDS13816.1	22																																																																																			AP000349.1	-	NULL	ENSG00000267954		0.642	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267954	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000319891.2	-	0.00	86	0	C	NM_005940		24124522	-1	tier1	-	no_errors	ENST00000598975	ensembl	human	known	74_37	missense	28.57	95	38	SNP	0.000	T
ERG	2078	genome.wustl.edu	37	21	39755332	39755332	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr21:39755332T>C	ENST00000417133.2	-	12	1639	c.1454A>G	c.(1453-1455)tAc>tGc	p.Y485C	ERG_ENST00000398911.1_Missense_Mutation_p.Y461C|ERG_ENST00000398897.1_Missense_Mutation_p.Y362C|ERG_ENST00000398919.2_Missense_Mutation_p.Y485C|ERG_ENST00000398907.1_Missense_Mutation_p.Y455C|ERG_ENST00000442448.1_Missense_Mutation_p.Y461C|ERG_ENST00000398910.1_Missense_Mutation_p.Y462C|ERG_ENST00000453032.2_Missense_Mutation_p.Y386C|ERG_ENST00000288319.7_Missense_Mutation_p.Y478C|ERG_ENST00000398905.1_Missense_Mutation_p.Y454C	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCTTTAGTAGTAAGTGCCCAG	0.507			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													27.0	27.0	27.0					21																	39755332		2203	4300	6503	SO:0001583	missense	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1454A>G	21.37:g.39755332T>C	ENSP00000414150:p.Tyr485Cys		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Y485C	ENST00000417133.2	37	c.1454	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201345	0.58234	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.28069	1.77;1.67;1.71;1.89;1.76;1.71;1.63;1.76;1.76;1.71	5.76	5.76	0.90799	.	0.171976	0.40222	N	0.001154	T	0.55000	0.1893	M	0.66297	2.02	0.80722	D	1	P;B;D;D	0.89917	0.848;0.232;0.964;1.0	B;B;P;D	0.91635	0.275;0.202;0.465;0.999	T	0.56323	-0.7998	10	0.56958	D	0.05	.	16.0706	0.80928	0.0:0.0:0.0:1.0	.	485;454;461;478	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	C	454;455;478;362;461;485;462;461;386;485	ENSP00000381877:Y454C;ENSP00000381879:Y455C;ENSP00000288319:Y478C;ENSP00000381871:Y362C;ENSP00000381882:Y461C;ENSP00000414150:Y485C;ENSP00000381881:Y462C;ENSP00000394694:Y461C;ENSP00000396268:Y386C;ENSP00000381891:Y485C	ENSP00000288319:Y478C	Y	-	2	0	ERG	38677202	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.036000	0.88901	2.177000	0.69029	0.460000	0.39030	TAC	ERG	-	NULL	ENSG00000157554		0.507	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	-	0.00	134	0	T	NM_182918		39755332	-1	tier1	-	no_errors	ENST00000398919	ensembl	human	known	74_37	missense	9.27	137	14	SNP	1.000	C
EXD2	55218	genome.wustl.edu	37	14	69701701	69701701	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr14:69701701C>A	ENST00000409018.3	+	5	1130	c.1002C>A	c.(1000-1002)gaC>gaA	p.D334E	EXD2_ENST00000312994.5_Missense_Mutation_p.D334E|EXD2_ENST00000409675.1_Missense_Mutation_p.D209E|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.D209E|EXD2_ENST00000409242.1_Missense_Mutation_p.D209E|EXD2_ENST00000409949.1_Missense_Mutation_p.D209E|EXD2_ENST00000409014.1_Missense_Mutation_p.D209E	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	334							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGGGAGAGACCCCAGAAAAC	0.488																																																	0													38.0	44.0	42.0					14																	69701701		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1002C>A	14.37:g.69701701C>A	ENSP00000387331:p.Asp334Glu		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.D334E	ENST00000409018.3	37	c.1002	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805675	0.50315	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.62232	0.41;0.04;0.04;0.04;0.04;0.41;0.04	5.56	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	M	0.68317	2.08	0.58432	D	0.999999	P;B;B	0.36144	0.539;0.086;0.138	B;B;B	0.34824	0.19;0.032;0.082	T	0.49542	-0.8929	10	0.23302	T	0.38	-25.6944	7.0792	0.25221	0.0:0.7615:0.0:0.2385	.	334;209;209	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	E	334;209;209;209;209;334;209	ENSP00000387331:D334E;ENSP00000386915:D209E;ENSP00000386762:D209E;ENSP00000386632:D209E;ENSP00000386839:D209E;ENSP00000313140:D334E;ENSP00000392177:D209E	ENSP00000313140:D334E	D	+	3	2	EXD2	68771454	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.169000	0.42434	2.776000	0.95493	0.650000	0.86243	GAC	EXD2	-	NULL	ENSG00000081177		0.488	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0.00	32	0	C			69701701	+1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	71.05	11	27	SNP	1.000	A
EXD3	54932	genome.wustl.edu	37	9	140201471	140201471	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:140201471G>T	ENST00000340951.4	-	22	2757	c.2562C>A	c.(2560-2562)gaC>gaA	p.D854E	EXD3_ENST00000342129.4_Missense_Mutation_p.D492E	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCTCCAGCATGTCTCGGAAGT	0.647																																																	0													22.0	27.0	26.0					9																	140201471		2021	4159	6180	SO:0001583	missense	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2562C>A	9.37:g.140201471G>T	ENSP00000340474:p.Asp854Glu		Q6P1M1|Q8IXT8	Missense_Mutation	SNP	pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.D854E	ENST00000340951.4	37	c.2562	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098388	0.01843	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.62788	0.0;0.79	4.17	-3.21	0.05140	.	.	.	.	.	T	0.30293	0.0760	N	0.10760	0.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11817	-1.0572	9	0.18710	T	0.47	.	1.0049	0.01485	0.3572:0.2286:0.2485:0.1657	.	492;854	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	E	492;854	ENSP00000343705:D492E;ENSP00000340474:D854E	ENSP00000340474:D854E	D	-	3	2	EXD3	139321292	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.602000	0.02079	-1.311000	0.02309	-0.671000	0.03813	GAC	EXD3	-	NULL	ENSG00000187609		0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	-	0.00	43	0	G	NM_017820		140201471	-1	tier1	-	no_errors	ENST00000340951	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T
FAM45A	404636	genome.wustl.edu	37	10	120871395	120871395	+	Missense_Mutation	SNP	A	A	T	rs371713194		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:120871395A>T	ENST00000361432.2	+	3	313	c.287A>T	c.(286-288)gAt>gTt	p.D96V	FAM45A_ENST00000535029.1_Missense_Mutation_p.D96V|FAM45A_ENST00000544016.1_5'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	96								p.D96A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACCGCCAAAGATTTTAACCCA	0.299																																																	1	Substitution - Missense(1)	kidney(1)											144.0	145.0	145.0					10																	120871395		2203	4298	6501	SO:0001583	missense	0			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.287A>T	10.37:g.120871395A>T	ENSP00000354688:p.Asp96Val		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	pfam_ABL9/DENND6_dom	p.D96V	ENST00000361432.2	37	c.287	CCDS7609.1	10	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256965	0.80246	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.995;0.989	T	0.71507	-0.4572	9	0.54805	T	0.06	.	13.8633	0.63573	1.0:0.0:0.0:0.0	.	23;88;96	B4DNL9;Q8TCE6-2;Q8TCE6	.;.;FA45A_HUMAN	V	96	.	ENSP00000354688:D96V	D	+	2	0	FAM45A	120861385	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.057000	0.89457	2.078000	0.62432	0.460000	0.39030	GAT	FAM45A	-	NULL	ENSG00000119979		0.299	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1		0.00	34	0	A	NM_207009		120871395	+1			no_errors	ENST00000361432	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
FAM86B3P	286042	genome.wustl.edu	37	8	8096026	8096026	+	RNA	SNP	T	T	G	rs200485466		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:8096026T>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		TGACCCCTGATGCATAGCCCT	0.667																																																	0																																												0					8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8096026T>G				RNA	SNP	-	NULL	ENST00000310542.3	37	NULL		8																																																																																			FAM86B3P	-	-	ENSG00000173295		0.667	FAM86B3P-005	KNOWN	basic	processed_transcript	FAM86B3P	HGNC	pseudogene	OTTHUMT00000448496.1		0.00	33	0	T			8096026	+1			no_errors	ENST00000590591	ensembl	human	known	74_37	rna	20.69	23	6	SNP	0.000	G
LOC403323	403323	genome.wustl.edu	37	9	66513868	66513868	+	IGR	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:66513868G>A								RP11-262H14.1 (44558 upstream) : RP11-262H14.7 (3337 downstream)																							CTGCTCCTGCGGAAGGACGTC	0.502																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66513868G>A				RNA	SNP	-	NULL		37	NULL		9																																																																																			RP11-262H14.3	-	-	ENSG00000234665	0	0.502					FLJ20444	Clone_based_vega_gene			-	0.00	563	0	G			66513868	-1	tier1	-	no_errors	ENST00000586625	ensembl	human	known	74_37	rna	8.47	497	46	SNP	1.000	A
FCN2	2220	genome.wustl.edu	37	9	137779104	137779104	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:137779104A>C	ENST00000291744.6	+	8	795	c.785A>C	c.(784-786)cAg>cCg	p.Q262P	FCN2_ENST00000350339.2_Missense_Mutation_p.Q224P	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	262	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTGATGTTTCAGGGAGCTTGG	0.498																																																	0													164.0	146.0	152.0					9																	137779104		2203	4300	6503	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.785A>C	9.37:g.137779104A>C	ENSP00000291744:p.Gln262Pro		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q262P	ENST00000291744.6	37	c.785	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114823	0.37339	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.77098	-1.07;-1.07	4.05	-1.36	0.09085	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.793873	0.10605	N	0.655103	T	0.76828	0.4042	M	0.82323	2.585	0.09310	N	0.999999	B;B	0.18741	0.03;0.005	B;B	0.24269	0.052;0.019	T	0.69289	-0.5184	10	0.72032	D	0.01	.	8.2966	0.31988	0.6104:0.0:0.3896:0.0	.	224;262	Q15485-2;Q15485	.;FCN2_HUMAN	P	224;262	ENSP00000291741:Q224P;ENSP00000291744:Q262P	ENSP00000291744:Q262P	Q	+	2	0	FCN2	136918925	0.000000	0.05858	0.045000	0.18777	0.016000	0.09150	-0.736000	0.04882	-0.249000	0.09569	0.460000	0.39030	CAG	FCN2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000160339		0.498	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	-	0.00	35	0	A	NM_004108		137779104	+1	tier1	-	no_errors	ENST00000291744	ensembl	human	known	74_37	missense	54.35	21	25	SNP	0.227	C
FLJ34503	285759	genome.wustl.edu	37	6	114225547	114225548	+	RNA	DNP	GC	GC	AA			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:114225547_114225548GC>AA	ENST00000314481.3	+	0	246_247					NR_027060.1																						TGCAAAACCTGCCATCGTTGCT	0.545																																																	0																																												0																														Exception_encountered	6.37:g.114225547_114225548delinsAA				RNA	SNP	-	NULL	ENST00000314481.3	37	NULL		6																																																																																			RP11-544L8__B.4	-	-	ENSG00000175967		0.545	RP11-544L8__B.4-001	KNOWN	basic	antisense	FLJ34503	Clone_based_vega_gene	antisense	OTTHUMT00000257661.1	-	0.00	15	0	G|C			114225547|114225548	+1	tier1	-	no_errors	ENST00000314481	ensembl	human	known	74_37	rna	80.00	2	8	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240370785	240370785	+	Silent	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:240370785G>T	ENST00000319653.9	+	5	2903	c.2673G>T	c.(2671-2673)ctG>ctT	p.L891L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	891	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCTACTCTGCCCAGTACAG	0.657																																																	0													64.0	65.0	64.0					1																	240370785		2203	4300	6503	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2673G>T	1.37:g.240370785G>T			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L891	ENST00000319653.9	37	c.2673	CCDS31069.2	1																																																																																			FMN2	-	smart_FH2_Formin	ENSG00000155816		0.657	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	26	0	G	XM_371352		240370785	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	25.93	40	14	SNP	0.763	T
FOXN2	3344	genome.wustl.edu	37	2	48602081	48602081	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:48602081A>C	ENST00000340553.3	+	7	1056	c.795A>C	c.(793-795)aaA>aaC	p.K265N		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	265					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTCCTCTTAAAACAGCATTGC	0.378																																																	0													53.0	51.0	51.0					2																	48602081		2203	4300	6503	SO:0001583	missense	0				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.795A>C	2.37:g.48602081A>C	ENSP00000343633:p.Lys265Asn		Q15769|Q6P4Q2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K265N	ENST00000340553.3	37	c.795	CCDS1838.1	2	.	.	.	.	.	.	.	.	.	.	A	10.51	1.371297	0.24771	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.93859	-3.3	5.08	3.92	0.45320	.	0.184551	0.47852	D	0.000220	D	0.92554	0.7635	L	0.38838	1.175	0.44899	D	0.997913	D	0.76494	0.999	D	0.78314	0.991	D	0.88741	0.3243	10	0.22109	T	0.4	.	5.385	0.16213	0.6376:0.0:0.3624:0.0	.	265	P32314	FOXN2_HUMAN	N	174;265	ENSP00000343633:K265N	ENSP00000305685:K174N	K	+	3	2	FOXN2	48455585	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.671000	0.46842	1.047000	0.40274	0.533000	0.62120	AAA	FOXN2	-	NULL	ENSG00000170802		0.378	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN2	HGNC	protein_coding	OTTHUMT00000251240.3	-	0.00	31	0	A	NM_002158		48602081	+1	tier1	-	no_errors	ENST00000340553	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.998	C
FREM2	341640	genome.wustl.edu	37	13	39438423	39438423	+	Missense_Mutation	SNP	G	G	A	rs200997496	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:39438423G>A	ENST00000280481.7	+	16	7879	c.7663G>A	c.(7663-7665)Gtg>Atg	p.V2555M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2555					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGCTCCCCGTGATCTCCAC	0.408																																																	0													63.0	59.0	60.0					13																	39438423		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7663G>A	13.37:g.39438423G>A	ENSP00000280481:p.Val2555Met		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2555M	ENST00000280481.7	37	c.7663	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980951	0.74474	.	.	ENSG00000150893	ENST00000280481	T	0.24350	1.86	5.81	4.97	0.65823	.	0.066892	0.64402	D	0.000013	T	0.47710	0.1460	M	0.82517	2.595	0.46396	D	0.99902	D;D	0.65815	0.995;0.985	P;P	0.58391	0.838;0.693	T	0.53795	-0.8388	10	0.72032	D	0.01	.	11.0803	0.48055	0.1417:0.0:0.8583:0.0	.	2555;2555	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	M	2555	ENSP00000280481:V2555M	ENSP00000280481:V2555M	V	+	1	0	FREM2	38336423	1.000000	0.71417	0.662000	0.29724	0.902000	0.53008	5.761000	0.68801	1.466000	0.48025	0.650000	0.86243	GTG	FREM2	-	NULL	ENSG00000150893		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	39	0	G	NM_207361		39438423	+1	tier1	rs200997496	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.993	A
FREM3	166752	genome.wustl.edu	37	4	144620046	144620046	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:144620046G>T	ENST00000329798.5	-	1	1782	c.1783C>A	c.(1783-1785)Cct>Act	p.P595T	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	595					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TCCCACTGAGGCTCTTCCTCA	0.527																																																	0													65.0	64.0	64.0					4																	144620046		692	1591	2283	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.1783C>A	4.37:g.144620046G>T	ENSP00000332886:p.Pro595Thr			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P595T	ENST00000329798.5	37	c.1783	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369993	0.05069	.	.	ENSG00000183090	ENST00000329798	T	0.19806	2.12	3.74	-3.6	0.04570	.	1.873330	0.02891	N	0.134179	T	0.05318	0.0141	N	0.01048	-1.04	0.09310	N	1	.	.	.	.	.	.	T	0.16837	-1.0389	8	0.13470	T	0.59	0.4853	0.9993	0.01473	0.1572:0.3128:0.1769:0.3532	.	.	.	.	T	595	ENSP00000332886:P595T	ENSP00000332886:P595T	P	-	1	0	FREM3	144839496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.827000	0.04424	-0.995000	0.03459	-1.070000	0.02257	CCT	FREM3	-	NULL	ENSG00000183090		0.527	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	-	0.00	19	0	G	XM_094074		144620046	-1	tier1	-	no_errors	ENST00000329798	ensembl	human	putative	74_37	missense	21.88	25	7	SNP	0.000	T
FRMPD1	22844	genome.wustl.edu	37	9	37740199	37740199	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:37740199G>T	ENST00000539465.1	+	15	2267	c.1674G>T	c.(1672-1674)caG>caT	p.Q558H	FRMPD1_ENST00000536622.1_Missense_Mutation_p.Q380H|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q558H|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Q427H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	558						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGGAGGAGCAGCCTCCTGGGA	0.632																																																	0													36.0	42.0	40.0					9																	37740199		2203	4300	6503	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1674G>T	9.37:g.37740199G>T	ENSP00000444411:p.Gln558His		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.Q558H	ENST00000539465.1	37	c.1674	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	G	6.666	0.491430	0.12702	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.18502	3.2;3.2;2.21;2.21	5.95	-0.408	0.12381	.	1.609800	0.03075	N	0.157643	T	0.14527	0.0351	L	0.51422	1.61	0.09310	N	1	B;P	0.35600	0.34;0.511	B;B	0.31751	0.064;0.135	T	0.15292	-1.0442	10	0.44086	T	0.13	0.0641	1.6357	0.02741	0.2061:0.1182:0.4325:0.2433	.	427;558	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	H	558;558;380;427	ENSP00000366995:Q558H;ENSP00000444411:Q558H;ENSP00000437762:Q380H;ENSP00000444804:Q427H	ENSP00000366995:Q558H	Q	+	3	2	FRMPD1	37730199	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.885000	0.28227	-0.343000	0.08351	-0.181000	0.13052	CAG	FRMPD1	-	NULL	ENSG00000070601		0.632	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	-	0.00	34	0	G	NM_014907		37740199	+1	tier1	-	no_errors	ENST00000377765	ensembl	human	known	74_37	missense	72.92	13	35	SNP	0.009	T
GCC2	9648	genome.wustl.edu	37	2	109087996	109087996	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:109087996G>A	ENST00000309863.6	+	6	2925	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	737					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGGTTGAAGAGCAAGATAATT	0.294																																																	0													78.0	97.0	91.0					2																	109087996		2196	4297	6493	SO:0001819	synonymous_variant	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2211G>A	2.37:g.109087996G>A			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E737	ENST00000309863.6	37	c.2211	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.294	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0.00	22	0	G	NM_014635		109087996	+1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.446	A
GCC2	9648	genome.wustl.edu	37	2	109087999	109087999	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:109087999A>T	ENST00000309863.6	+	6	2928	c.2214A>T	c.(2212-2214)caA>caT	p.Q738H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	738					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTGAAGAGCAAGATAATTTAA	0.299																																																	0													76.0	94.0	88.0					2																	109087999		2196	4297	6493	SO:0001583	missense	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2214A>T	2.37:g.109087999A>T	ENSP00000307939:p.Gln738His		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q738H	ENST00000309863.6	37	c.2214	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283257	0.23392	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.31510	1.49	5.5	3.14	0.36123	.	0.696409	0.12175	N	0.492670	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.24541	0.054	T	0.21586	-1.0241	10	0.33141	T	0.24	.	9.5658	0.39398	0.7968:0.0:0.2032:0.0	.	738	Q8IWJ2	GCC2_HUMAN	H	738;701;482	ENSP00000307939:Q738H	ENSP00000307939:Q738H	Q	+	3	2	GCC2	108454431	0.996000	0.38824	0.978000	0.43139	0.781000	0.44180	2.588000	0.46137	1.027000	0.39758	0.528000	0.53228	CAA	GCC2	-	NULL	ENSG00000135968		0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0.00	25	0	A	NM_014635		109087999	+1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.530	T
GOLGA8EP	390535	genome.wustl.edu	37	15	23442114	23442114	+	RNA	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:23442114C>G	ENST00000526079.1	+	0	1557				RN7SL106P_ENST00000488468.2_RNA|AC100757.1_ENST00000458911.1_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		AAAGGAGCTGCAGGAGAAGCT	0.582																																																	0													0.0	1.0	1.0					15																	23442114		0	8	8			0					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23442114C>G				RNA	SNP	-	NULL	ENST00000526079.1	37	NULL		15																																																																																			GOLGA8EP	-	-	ENSG00000175676		0.582	GOLGA8EP-002	KNOWN	basic	processed_transcript	GOLGA8EP	HGNC	pseudogene	OTTHUMT00000393312.1	-	0.00	15	0	C	NR_033350.1		23442114	+1	tier1	-	no_errors	ENST00000526079	ensembl	human	known	74_37	rna	37.50	5	3	SNP	1.000	G
GOLGA8A	23015	genome.wustl.edu	37	15	34674006	34674006	+	Missense_Mutation	SNP	C	C	T	rs238639	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:34674006C>T	ENST00000359187.4	-	15	1569	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.S359N|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.S532N|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.S502N	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	530						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTGCCCCTCGCTGTAGCTGCC	0.677																																																	0													1.0	1.0	1.0					15																	34674006		324	759	1083	SO:0001583	missense	0			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1505G>A	15.37:g.34674006C>T	ENSP00000352111:p.Ser502Asn		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.S532N	ENST00000359187.4	37	c.1595	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.496816	0.00159	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.02455	0.0075	N	0.00197	-1.87	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.42137	-0.9469	8	0.02654	T	1	.	4.1473	0.10222	0.0:0.2623:0.0:0.7377	.	502;530	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	N	502;502;532;359	ENSP00000352111:S502N;ENSP00000353755:S502N;ENSP00000402791:S532N;ENSP00000438613:S359N	ENSP00000352111:S502N	S	-	2	0	GOLGA8A	32461298	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.565000	0.36386	-0.443000	0.07180	-0.982000	0.02568	AGC	GOLGA8A	-	NULL	ENSG00000175265		0.677	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	-	0.00	14	0	C	NM_181076		34674006	-1	tier1	rs201334463	no_errors	ENST00000432566	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.185	T
GPR63	81491	genome.wustl.edu	37	6	97247160	97247161	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:97247160_97247161insA	ENST00000229955.3	-	2	792_793	c.447_448insT	c.(445-450)tttgggfs	p.G150fs	GPR63_ENST00000417980.1_Frame_Shift_Ins_p.G150fs	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.G150R(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGAATTTCCCAAAAATCCATC	0.416																																																	1	Substitution - Missense(1)	urinary_tract(1)																																								SO:0001589	frameshift_variant	0			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.448dupT	6.37:g.97247165_97247165dupA	ENSP00000229955:p.Gly150fs		Q9UJH3	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G149fs	ENST00000229955.3	37	c.448_447	CCDS5036.1	6																																																																																			GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000112218		0.416	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2		0.00	26	0	-			97247161	-1	tier1		no_errors	ENST00000229955	ensembl	human	known	74_37	frame_shift_ins	11.11	16	2	INS	1.000:0.997	A
GPR98	84059	genome.wustl.edu	37	5	89985740	89985740	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr5:89985740G>T	ENST00000405460.2	+	30	6649	c.6553G>T	c.(6553-6555)Gtg>Ttg	p.V2185L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2185	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTAAAGCCGTGCCAATATA	0.378																																																	0													77.0	73.0	74.0					5																	89985740		1839	4095	5934	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6553G>T	5.37:g.89985740G>T	ENSP00000384582:p.Val2185Leu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V2185L	ENST00000405460.2	37	c.6553	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.124460	0.94429	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.33438	1.41	5.36	5.36	0.76844	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49661	-0.8916	10	0.48119	T	0.1	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2185	Q8WXG9	GPR98_HUMAN	L	2185	ENSP00000384582:V2185L	ENSP00000296619:V2185L	V	+	1	0	GPR98	90021496	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.541000	0.98083	2.501000	0.84356	0.650000	0.86243	GTG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0.00	46	0	G	NM_032119		89985740	+1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
HIST1H1A	3024	genome.wustl.edu	37	6	26017677	26017677	+	Missense_Mutation	SNP	G	G	T	rs375118598		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:26017677G>T	ENST00000244573.3	-	1	363	c.284C>A	c.(283-285)aCg>aAg	p.T95K		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	95	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.T95R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTGCACCAACGTTCCCTTGCT	0.572																																																	1	Substitution - Missense(1)	ovary(1)											78.0	81.0	80.0					6																	26017677		2203	4300	6503	SO:0001583	missense	0			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.284C>A	6.37:g.26017677G>T	ENSP00000244573:p.Thr95Lys		Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.T95K	ENST00000244573.3	37	c.284	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	19.06	3.754156	0.69648	.	.	ENSG00000124610	ENST00000244573	T	0.09163	3.01	4.2	4.2	0.49525	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.159960	0.53938	D	0.000041	T	0.14270	0.0345	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.08889	-1.0700	10	0.29301	T	0.29	-14.8275	16.4244	0.83809	0.0:0.0:1.0:0.0	.	95	Q02539	H11_HUMAN	K	95	ENSP00000244573:T95K	ENSP00000244573:T95K	T	-	2	0	HIST1H1A	26125656	1.000000	0.71417	0.982000	0.44146	0.147000	0.21601	5.607000	0.67648	2.260000	0.74910	0.609000	0.83330	ACG	HIST1H1A	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	ENSG00000124610		0.572	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	-	0.00	89	0	G	NM_005325		26017677	-1	tier1	-	no_errors	ENST00000244573	ensembl	human	known	74_37	missense	64.06	23	41	SNP	1.000	T
HECA	51696	genome.wustl.edu	37	6	139487526	139487526	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:139487526G>T	ENST00000367658.2	+	2	662	c.377G>T	c.(376-378)aGc>aTc	p.S126I	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	126					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TGCCCCTGCAGCACCTGGATG	0.612																																																	0													87.0	77.0	80.0					6																	139487526		2203	4300	6503	SO:0001583	missense	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.377G>T	6.37:g.139487526G>T	ENSP00000356630:p.Ser126Ile			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.S126I	ENST00000367658.2	37	c.377	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381221	0.82792	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	5.02	0.67125	.	0.083917	0.85682	D	0.000000	T	0.54565	0.1866	L	0.42245	1.32	0.58432	D	0.99999	D	0.56035	0.974	P	0.51229	0.663	T	0.59783	-0.7389	9	0.87932	D	0	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	126	Q9UBI9	HDC_HUMAN	I	126	.	ENSP00000356630:S126I	S	+	2	0	HECA	139529219	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.166000	0.94766	2.767000	0.95098	0.655000	0.94253	AGC	HECA	-	NULL	ENSG00000112406		0.612	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	-	0.00	24	0	G	NM_016217		139487526	+1	tier1	-	no_errors	ENST00000367658	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
HMGB2	3148	genome.wustl.edu	37	4	174253306	174253306	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:174253306G>T	ENST00000296503.5	-	5	1428	c.555C>A	c.(553-555)aaC>aaA	p.N185K	HMGB2_ENST00000446922.2_Missense_Mutation_p.N185K|HMGB2_ENST00000438704.2_Missense_Mutation_p.N185K|RP11-798M19.3_ENST00000507803.1_RNA			P26583	HMGB2_HUMAN	high mobility group box 2	185					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cttctggttcgttcttcttct	0.448																																																	0													214.0	187.0	196.0					4																	174253306		2203	4300	6503	SO:0001583	missense	0				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.555C>A	4.37:g.174253306G>T	ENSP00000296503:p.Asn185Lys		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.N185K	ENST00000296503.5	37	c.555	CCDS3816.1	4	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324077	0.05350	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.93811	-3.29;-3.29;-3.29	5.9	-0.917	0.10485	.	0.552403	0.17896	N	0.158343	T	0.77671	0.4165	N	0.02916	-0.46	0.35754	D	0.819662	B	0.20887	0.049	B	0.15484	0.013	T	0.68345	-0.5433	10	0.06236	T	0.91	.	9.7769	0.40626	0.6311:0.0:0.3689:0.0	.	185	P26583	HMGB2_HUMAN	K	185	ENSP00000296503:N185K;ENSP00000393448:N185K;ENSP00000404912:N185K	ENSP00000296503:N185K	N	-	3	2	HMGB2	174489881	0.355000	0.24921	0.995000	0.50966	0.922000	0.55478	-0.065000	0.11617	-0.099000	0.12263	-0.956000	0.02647	AAC	HMGB2	-	NULL	ENSG00000164104		0.448	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	-	0.00	41	0	G	NM_001130688		174253306	-1	tier1	-	no_errors	ENST00000296503	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.980	T
HSPBP1	23640	genome.wustl.edu	37	19	55790905	55790905	+	Silent	SNP	T	T	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:55790905T>G	ENST00000255631.5	-	3	382	c.72A>C	c.(70-72)tcA>tcC	p.S24S	BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000376343.3_Silent_p.S24S|HSPBP1_ENST00000433386.2_Silent_p.S24S|HSPBP1_ENST00000587922.1_Silent_p.S24S	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	24	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGCCGCCCCCTGAAGAGCAAC	0.697																																																	0													7.0	10.0	9.0					19																	55790905		1698	3669	5367	SO:0001819	synonymous_variant	0				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.72A>C	19.37:g.55790905T>G			B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	superfamily_ARM-type_fold	p.S24	ENST00000255631.5	37	c.72	CCDS33111.1	19																																																																																			HSPBP1	-	NULL	ENSG00000133265		0.697	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1		0.00	40	0	T	NM_012267		55790905	-1			no_errors	ENST00000255631	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.075	G
IRX5	10265	genome.wustl.edu	37	16	54967577	54967577	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:54967577A>G	ENST00000394636.4	+	3	1581	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	IRX5_ENST00000558597.1_Missense_Mutation_p.Y349C|IRX5_ENST00000560154.1_Missense_Mutation_p.Y195C|IRX5_ENST00000320990.5_Missense_Mutation_p.Y414C|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	415					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						TACACGAACTATGGCTCCTTC	0.637																																																	0													25.0	32.0	29.0					16																	54967577		2192	4290	6482	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1244A>G	16.37:g.54967577A>G	ENSP00000378132:p.Tyr415Cys		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.Y415C	ENST00000394636.4	37	c.1244	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676593	0.47886	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.50813	0.73;0.73	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.67098	-0.5756	10	0.87932	D	0	-4.6453	14.0367	0.64649	1.0:0.0:0.0:0.0	.	415	P78411	IRX5_HUMAN	C	415;414	ENSP00000378132:Y415C;ENSP00000316250:Y414C	ENSP00000316250:Y414C	Y	+	2	0	IRX5	53525078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.621000	0.90949	1.896000	0.54893	0.528000	0.53228	TAT	IRX5	-	NULL	ENSG00000176842		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0.00	92	0	A			54967577	+1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	G
ITCH	83737	genome.wustl.edu	37	20	33050008	33050008	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr20:33050008G>A	ENST00000262650.6	+	15	1665	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	ITCH_ENST00000374864.4_Missense_Mutation_p.R469H|ITCH_ENST00000535650.1_Missense_Mutation_p.R359H|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	510	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATAGATCCCCGCACAGGAAAA	0.368																																																	0													80.0	79.0	79.0					20																	33050008		2203	4300	6503	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1529G>A	20.37:g.33050008G>A	ENSP00000262650:p.Arg510His		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R510H	ENST00000262650.6	37	c.1529	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.320223	0.95682	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.52057	0.68;0.74;1.02	5.85	5.85	0.93711	WW/Rsp5/WWP (4);	0.051357	0.85682	D	0.000000	T	0.81791	0.4897	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.955;0.995;0.972	D	0.88004	0.2758	10	0.87932	D	0	.	19.762	0.96323	0.0:0.0:1.0:0.0	.	421;510;469	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	H	469;359;510	ENSP00000363998:R469H;ENSP00000445608:R359H;ENSP00000262650:R510H	ENSP00000262650:R510H	R	+	2	0	ITCH	32513669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.770000	0.95276	0.650000	0.86243	CGC	ITCH	-	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000078747		0.368	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0.00	50	0	G			33050008	+1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	A
ITGA6	3655	genome.wustl.edu	37	2	173338917	173338917	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:173338917G>C	ENST00000264106.6	+	7	1230	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	ITGA6_ENST00000264107.7_Missense_Mutation_p.E304Q|ITGA6_ENST00000375221.2_Missense_Mutation_p.E343Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.E299Q|ITGA6_ENST00000409532.1_Missense_Mutation_p.E185Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.E304Q			P23229	ITA6_HUMAN	integrin, alpha 6	343					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTCCTCCCTGAGCACATATT	0.483																																																	0													141.0	129.0	133.0					2																	173338917		2203	4300	6503	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1027G>C	2.37:g.173338917G>C	ENSP00000264106:p.Glu343Gln		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E343Q	ENST00000264106.6	37	c.1027		2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987332	0.93106	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.02;-0.36;-0.39;-0.38;-0.37;-0.36;-0.39;-0.37	5.36	5.36	0.76844	.	0.047619	0.85682	D	0.000000	T	0.72763	0.3501	N	0.11789	0.175	0.58432	D	0.999999	P;D;D	0.76494	0.73;0.999;0.998	B;D;D	0.72075	0.352;0.976;0.959	T	0.75422	-0.3323	10	0.39692	T	0.17	.	19.0937	0.93240	0.0:0.0:1.0:0.0	.	299;304;304	P23229-4;G5E9H1;P23229-2	.;.;.	Q	190;185;304;343;343;299;304;343;299	ENSP00000413470:E190Q;ENSP00000386614:E185Q;ENSP00000264107:E304Q;ENSP00000264106:E343Q;ENSP00000364369:E343Q;ENSP00000341078:E299Q;ENSP00000386896:E304Q;ENSP00000406694:E343Q;ENSP00000394169:E299Q	ENSP00000264106:E343Q	E	+	1	0	ITGA6	173047163	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	9.869000	0.99810	2.505000	0.84491	0.655000	0.94253	GAG	ITGA6	-	NULL	ENSG00000091409		0.483	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		-	0.00	107	0	G			173338917	+1	tier1	-	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	46.19	318	273	SNP	1.000	C
ITIH5	80760	genome.wustl.edu	37	10	7628031	7628031	+	Splice_Site	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:7628031G>T	ENST00000256861.6	-	8	1019	c.941C>A	c.(940-942)aCc>aAc	p.T314N	ITIH5_ENST00000397145.2_Splice_Site_p.T314N|ITIH5_ENST00000446830.2_Splice_Site_p.T96N|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Splice_Site_p.T314N|ITIH5_ENST00000298441.6_Splice_Site_p.T100N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	314	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCATCCTTGGTCTAGGCAAA	0.507																																																	0													88.0	79.0	82.0					10																	7628031		2203	4300	6503	SO:0001630	splice_region_variant	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.940-1C>A	10.37:g.7628031G>T			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T314N	ENST00000256861.6	37	c.941		10	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529504	0.85706	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	.	.	.	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92676	0.6154	9	0.87932	D	0	-39.2702	18.9592	0.92671	0.0:0.0:1.0:0.0	.	314;314;100	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	N	314;314;100;96;314	ENSP00000256861:T314N;ENSP00000380333:T314N;ENSP00000298441:T100N;ENSP00000387969:T96N;ENSP00000380332:T314N	ENSP00000256861:T314N	T	-	2	0	ITIH5	7668037	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.296000	0.96104	2.474000	0.83562	0.561000	0.74099	ACC	ITIH5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000123243		0.507	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0.00	60	0	G	NM_030569	Missense_Mutation	7628031	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	33.65	69	35	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319388	21319388	+	Missense_Mutation	SNP	C	C	T	rs140875968	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:21319388C>T	ENST00000583088.1	+	3	1629	c.734C>T	c.(733-735)cCg>cTg	p.P245L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P245L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	245					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGTACATCCCGCTGGACCAG	0.612										Prostate(3;0.18)																																							0								C	LEU/PRO	0,4406		0,0,2203	122.0	89.0	100.0		734	5.3	1.0	17	dbSNP_134	100	7,8593	2.2+/-6.3	0,7,4293	yes	missense	KCNJ12	NM_021012.4	98	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	245/434	21319388	7,12999	2203	4300	6503	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.734C>T	17.37:g.21319388C>T	ENSP00000463778:p.Pro245Leu		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.P245L	ENST00000583088.1	37	c.734	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720594	0.89205	0.0	8.14E-4	ENSG00000184185	ENST00000331718	D	0.91521	-2.86	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95974	0.8972	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	245	Q14500	IRK12_HUMAN	L	245	ENSP00000328150:P245L	ENSP00000328150:P245L	P	+	2	0	KCNJ12	21259981	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	CCG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2		0.00	119	0	C	NM_021012		21319388	+1			no_errors	ENST00000331718	ensembl	human	known	74_37	missense	5.00	133	7	SNP	1.000	T
KHSRP	8570	genome.wustl.edu	37	19	6417019	6417019	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:6417019G>A	ENST00000398148.3	-	12	1253	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	387	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGAGGAGGTCGTTGATGATCC	0.642																																					Colon(55;593 1006 2067 9135 22980)												0													55.0	63.0	60.0					19																	6417019		1961	4142	6103	SO:0001819	synonymous_variant	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1161C>T	19.37:g.6417019G>A			O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.N387	ENST00000398148.3	37	c.1161	CCDS45936.1	19																																																																																			KHSRP	-	smart_KH_dom	ENSG00000088247		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1		0.00	65	0	G			6417019	-1			no_errors	ENST00000398148	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.076	A
KLC1	3831	genome.wustl.edu	37	14	104139456	104139456	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr14:104139456G>A	ENST00000348520.6	+	8	1412	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KLC1_ENST00000246489.7_Missense_Mutation_p.A365T|KLC1_ENST00000555836.1_Missense_Mutation_p.A365T|KLC1_ENST00000554280.1_Missense_Mutation_p.A365T|KLC1_ENST00000557575.1_Missense_Mutation_p.A365T|KLC1_ENST00000347839.6_Missense_Mutation_p.A365T|KLC1_ENST00000389744.4_Missense_Mutation_p.A365T|KLC1_ENST00000334553.6_Missense_Mutation_p.A365T|KLC1_ENST00000553286.1_Missense_Mutation_p.A365T|KLC1_ENST00000452929.2_Missense_Mutation_p.A365T|KLC1_ENST00000557450.1_Missense_Mutation_p.A365T|KLC1_ENST00000380038.3_Missense_Mutation_p.A365T|KLC1_ENST00000445352.4_Missense_Mutation_p.A363T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.A537T	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	365					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATCAAAGAGCCCTCGAGAT	0.488																																																	0													67.0	63.0	65.0					14																	104139456		2203	4300	6503	SO:0001583	missense	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1093G>A	14.37:g.104139456G>A	ENSP00000341154:p.Ala365Thr		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A365T	ENST00000348520.6	37	c.1093	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.469662	0.96274	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.974;0.993;1.0	D	0.99032	1.0821	10	0.59425	D	0.04	-11.1201	20.2789	0.98501	0.0:0.0:1.0:0.0	.	365;365;537;365;363	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	T	365;365;365;365;365;365;365;365;365;365;365;365;365;363;537	ENSP00000341154:A365T;ENSP00000369377:A365T;ENSP00000374394:A365T;ENSP00000450617:A365T;ENSP00000452487:A365T;ENSP00000334618:A365T;ENSP00000452481:A365T;ENSP00000334523:A365T;ENSP00000246489:A365T;ENSP00000450648:A365T;ENSP00000451242:A365T;ENSP00000414982:A365T;ENSP00000412693:A363T;ENSP00000439065:A537T	ENSP00000246489:A365T	A	+	1	0	KLC1;RP11-73M18.2	103209209	1.000000	0.71417	0.959000	0.39883	0.845000	0.48019	9.862000	0.99564	2.788000	0.95919	0.650000	0.86243	GCC	KLC1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000126214		0.488	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	-	0.00	47	0	G	NM_005552		104139456	+1	tier1	-	no_errors	ENST00000334553	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	A
L1CAM	3897	genome.wustl.edu	37	X	153134086	153134086	+	Silent	SNP	G	G	A	rs150805225	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:153134086G>A	ENST00000370060.1	-	13	1665	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	L1CAM_ENST00000370057.3_Silent_p.T492T|L1CAM_ENST00000361699.4_Silent_p.T492T|L1CAM_ENST00000538883.1_Silent_p.T494T|L1CAM_ENST00000543994.1_Silent_p.T494T|L1CAM_ENST00000370055.1_Silent_p.T487T|L1CAM_ENST00000361981.3_Silent_p.T487T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	492	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGCGTCCGGTGTCATTGG	0.557													g|||	1	0.000264901	0.0008	0.0	3775	,	,		16721	0.0		0.0	False		,,,				2504	0.0																0								G	,,	1,3834		0,0,1,1632,570	139.0	99.0	113.0		1476,1461,1476	-11.2	0.0	X	dbSNP_134	113	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,,	492/1258,487/1249,492/1254	153134086	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1476C>T	X.37:g.153134086G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T494	ENST00000370060.1	37	c.1482	CCDS14733.1	X																																																																																			L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000198910		0.557	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0.00	50	0	G	NM_024003		153134086	-1	tier1	rs150805225	no_errors	ENST00000543994	ensembl	human	known	74_37	silent	70.00	12	28	SNP	0.012	A
LINC01410	103352539	genome.wustl.edu	37	9	66466602	66466602	+	lincRNA	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:66466602C>T	ENST00000424345.1	+	0	1235																											tcctcggggccaagagaattt	0.448																																																	0																																												0																															9.37:g.66466602C>T				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-	ENSG00000238113		0.448	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	-	0.00	14	0	C			66466602	+1	tier1	-	no_errors	ENST00000424345	ensembl	human	known	74_37	rna	38.89	11	7	SNP	0.008	T
LRCH2	57631	genome.wustl.edu	37	X	114422839	114422839	+	Silent	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:114422839G>T	ENST00000317135.8	-	2	474	c.444C>A	c.(442-444)acC>acA	p.T148T	RBMXL3_ENST00000424776.3_5'Flank|LRCH2_ENST00000538422.1_Silent_p.T148T	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	148										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CTTCAGGAATGGTTTTGATGC	0.289																																																	0													39.0	35.0	36.0					X																	114422839		1803	4054	5857	SO:0001819	synonymous_variant	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.444C>A	X.37:g.114422839G>T			F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.T148	ENST00000317135.8	37	c.444	CCDS48155.1	X																																																																																			LRCH2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000130224		0.289	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	-	0.00	66	0	G	NM_020871		114422839	-1	tier1	-	no_errors	ENST00000317135	ensembl	human	known	74_37	silent	70.83	14	34	SNP	0.994	T
MAATS1	89876	genome.wustl.edu	37	3	119452302	119452302	+	Silent	SNP	T	T	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:119452302T>A	ENST00000273390.5	+	10	1370	c.1293T>A	c.(1291-1293)ggT>ggA	p.G431G		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											CCAAAGCTGGTTTTCTGAAGA	0.418																																																	0													124.0	121.0	122.0					3																	119452302		2203	4300	6503	SO:0001819	synonymous_variant	0			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1293T>A	3.37:g.119452302T>A			A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	superfamily_S-AdoMet_deCO2ase_core	p.G431	ENST00000273390.5	37	c.1293	CCDS2994.1	3																																																																																			MAATS1	-	NULL	ENSG00000183833		0.418	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	-	0.00	68	0	T	NM_033364		119452302	+1	tier1	-	no_errors	ENST00000273390	ensembl	human	known	74_37	silent	55.70	35	44	SNP	0.825	A
MASP1	5648	genome.wustl.edu	37	3	186944257	186944257	+	Missense_Mutation	SNP	G	G	A	rs551848961		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:186944257G>A	ENST00000337774.5	-	12	1882	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	498	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGATCTTCCGGATCGAGTGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19349	0.0		0.0	False		,,,				2504	0.001																0													140.0	115.0	124.0					3																	186944257		2203	4300	6503	SO:0001583	missense	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1493C>T	3.37:g.186944257G>A	ENSP00000336792:p.Pro498Leu		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P498L	ENST00000337774.5	37	c.1493	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959536	0.18507	.	.	ENSG00000127241	ENST00000337774	D	0.92397	-3.03	5.86	1.91	0.25777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.77438	0.4130	N	0.03608	-0.345	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.65043	-0.6264	9	0.19147	T	0.46	.	4.5172	0.11940	0.1634:0.0:0.5249:0.3117	.	498	P48740	MASP1_HUMAN	L	498	ENSP00000336792:P498L	ENSP00000336792:P498L	P	-	2	0	MASP1	188426951	0.002000	0.14202	0.003000	0.11579	0.010000	0.07245	0.750000	0.26334	0.817000	0.34445	-0.214000	0.12660	CCG	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000127241		0.577	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0.00	40	0	G	NM_001879		186944257	-1	tier1	-	no_errors	ENST00000337774	ensembl	human	known	74_37	missense	25.19	101	34	SNP	0.000	A
MDH2	4191	genome.wustl.edu	37	7	75684274	75684275	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:75684274_75684275GC>AA	ENST00000315758.5	+	2	287_288	c.193_194GC>AA	c.(193-195)GCc>AAc	p.A65N	MDH2_ENST00000443006.1_Intron|MDH2_ENST00000432020.2_Missense_Mutation_p.A65N|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	65					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						ACCCGGAGTGGCCGCAGATCTG	0.609																																																	0																																										SO:0001583	missense	0				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	Exception_encountered	7.37:g.75684274_75684275delinsAA	ENSP00000327070:p.Ala65Asn		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	p.A65T|p.A65D	ENST00000315758.5	37	c.193|c.194	CCDS5581.1	7																																																																																			MDH2	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	ENSG00000146701		0.609	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1		0.00	25|24	0	G|C			75684274|75684275	+1			no_errors	ENST00000315758	ensembl	human	known	74_37	missense	11.76|11.11	30|32	4	SNP	1.000	A
MIR520D	574482	genome.wustl.edu	37	19	54223358	54223358	+	RNA	SNP	T	T	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:54223358T>G	ENST00000385002.1	+	0	9				MIR517B_ENST00000385102.1_RNA|RNU6-803P_ENST00000516034.1_RNA|MIR520G_ENST00000385064.1_RNA	NR_030204.1				microRNA 520d																		GATCTCAAGCTGTGAGTCTAC	0.413																																																	0													168.0	159.0	161.0					19																	54223358		1568	3582	5150			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54223358T>G				RNA	SNP	-	NULL	ENST00000385002.1	37	NULL		19																																																																																			MIR520D	-	-	ENSG00000207735		0.413	MIR520D-201	KNOWN	basic	miRNA	MIR520D	HGNC	miRNA		-	0.00	111	0	T	NR_030204		54223358	+1	tier1	-	no_errors	ENST00000385002	ensembl	human	known	74_37	rna	26.56	94	34	SNP	0.026	G
STRBP	55342	genome.wustl.edu	37	9	125874164	125874164	+	Intron	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:125874164G>A	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTACCAGAGGGAGCCCGACAA	0.493																																																	0																																										SO:0001627	intron_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-2132C>T	9.37:g.125874164G>A			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-	ENSG00000236901		0.493	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	-	0.00	57	0	G			125874164	-1	tier1	-	no_errors	ENST00000449175	ensembl	human	known	74_37	rna	22.95	47	14	SNP	0.000	A
MORC1	27136	genome.wustl.edu	37	3	108751662	108751662	+	Silent	SNP	A	A	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:108751662A>C	ENST00000483760.1	-	16	1513	c.1470T>G	c.(1468-1470)ctT>ctG	p.L490L	MORC1_ENST00000232603.5_Silent_p.L490L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCTCCATTTAAGACAAAGAT	0.333																																																	0													53.0	55.0	55.0					3																	108751662		2203	4292	6495	SO:0001819	synonymous_variant	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1470T>G	3.37:g.108751662A>C				Silent	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.L490	ENST00000483760.1	37	c.1470		3																																																																																			MORC1	-	pfam_Znf_CW,pfscan_Znf_CW	ENSG00000114487		0.333	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0.00	29	0	A			108751662	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.998	C
MRGPRX1	259249	genome.wustl.edu	37	11	18955619	18955619	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:18955619A>G	ENST00000302797.3	-	1	937	c.713T>C	c.(712-714)cTa>cCa	p.L238P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	238					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCATAAAAATAGGAAAAACTG	0.483																																																	0													71.0	64.0	66.0					11																	18955619		2194	4287	6481	SO:0001583	missense	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.713T>C	11.37:g.18955619A>G	ENSP00000305766:p.Leu238Pro		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L238P	ENST00000302797.3	37	c.713	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	12.56	1.974217	0.34848	.	.	ENSG00000170255	ENST00000302797	T	0.44482	0.92	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.552403	0.15477	N	0.260271	T	0.68943	0.3056	M	0.94021	3.485	0.18873	N	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.57487	-0.7803	10	0.87932	D	0	.	8.4333	0.32771	1.0:0.0:0.0:0.0	.	238	Q96LB2	MRGX1_HUMAN	P	238	ENSP00000305766:L238P	ENSP00000305766:L238P	L	-	2	0	MRGPRX1	18912195	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.460000	0.21924	1.292000	0.44672	0.402000	0.26972	CTA	MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000170255		0.483	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	-	0.00	73	0	A	NM_147199		18955619	-1	tier1	-	no_errors	ENST00000302797	ensembl	human	known	74_37	missense	25.88	63	22	SNP	0.003	G
SNED1	25992	genome.wustl.edu	37	2	242028575	242028575	+	Intron	SNP	T	T	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:242028575T>C	ENST00000310397.8	+	31	4243				MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Intron|SNED1_ENST00000405547.3_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GAAAGCCATCTACAACCTGTT	0.443																																																	0																																										SO:0001627	intron_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4239+758T>C	2.37:g.242028575T>C			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	RNA	SNP	-	NULL	ENST00000310397.8	37	NULL	CCDS46562.1	2																																																																																			MTERFD2	-	-	ENSG00000122085		0.443	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323935.2	-	0.00	8	0	T	XM_059482		242028575	-1	tier1	-	no_errors	ENST00000455202	ensembl	human	known	74_37	rna	62.50	6	10	SNP	0.000	C
MTF2	22823	genome.wustl.edu	37	1	93602676	93602677	+	3'UTR	DEL	AA	AA	-			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:93602676_93602677delAA	ENST00000370298.4	+	0	2163_2164				MTF2_ENST00000545708.1_3'UTR|MTF2_ENST00000370303.4_3'UTR|MTF2_ENST00000540243.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2						chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TATCTTTCTTAAAAAAAAAAAA	0.332																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.*93AA>-	1.37:g.93602686_93602687delAA			A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	RNA	DEL	-	NULL	ENST00000370298.4	37	NULL	CCDS742.1	1																																																																																			MTF2	-	-	ENSG00000143033		0.332	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3		0.00	36	0	AA	NM_007358		93602677	+1	tier1		no_errors	ENST00000467953	ensembl	human	known	74_37	rna	5.00	38	2	DEL	1.000:0.997	-
MTUS2	23281	genome.wustl.edu	37	13	29675068	29675068	+	Missense_Mutation	SNP	G	G	T	rs372355162		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:29675068G>T	ENST00000431530.3	+	3	2693	c.2635G>T	c.(2635-2637)Ggg>Tgg	p.G879W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	869	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACCCAGTCCGGGGACAGTGC	0.642																																																	0													7.0	7.0	7.0					13																	29675068		2006	4160	6166	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2635G>T	13.37:g.29675068G>T	ENSP00000392057:p.Gly879Trp		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.G879W	ENST00000431530.3	37	c.2635	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174867	0.21704	.	.	ENSG00000132938	ENST00000431530	T	0.11604	2.76	5.66	-2.38	0.06622	.	2.588180	0.01281	N	0.009730	T	0.06781	0.0173	N	0.08118	0	0.09310	N	0.999996	P	0.45827	0.867	P	0.47470	0.548	T	0.03829	-1.1000	9	.	.	.	.	0.1044	0.00051	0.3147:0.2363:0.1686:0.2804	.	869	Q5JR59	MTUS2_HUMAN	W	879	ENSP00000392057:G879W	.	G	+	1	0	MTUS2	28573068	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.318000	0.19504	-0.643000	0.05473	-1.008000	0.02478	GGG	MTUS2	-	NULL	ENSG00000132938		0.642	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0.00	40	0	G	XM_166270		29675068	+1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	35.71	54	30	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100637074	100637074	+	Missense_Mutation	SNP	G	G	A	rs200730762	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:100637074G>A	ENST00000379442.3	+	5	3659	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	MUC12_ENST00000536621.1_Missense_Mutation_p.R1077H			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1220	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACAACCTCACGCATCAGTCCA	0.512													g|||	147	0.029353	0.0121	0.0389	5008	,	,		29769	0.0109		0.0209	False		,,,				2504	0.0736																0													9.0	8.0	8.0					7																	100637074		555	1239	1794	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.3659G>A	7.37:g.100637074G>A	ENSP00000368755:p.Arg1220His		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.R1077H	ENST00000379442.3	37	c.3230		7	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155707	0.01686	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13657	2.57;2.57	0.713	-1.43	0.08884	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.33369	-0.9871	7	0.40728	T	0.16	.	3.6003	0.08021	0.0:0.2214:0.4862:0.2924	.	.	.	.	H	1220;1077	ENSP00000368755:R1220H;ENSP00000441929:R1077H	ENSP00000368755:R1220H	R	+	2	0	MUC12	100423794	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.324000	0.00512	-1.374000	0.02131	-1.406000	0.01132	CGC	MUC12	-	NULL	ENSG00000205277		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	27	0	G	XM_379904		100637074	+1	tier1	rs200730762	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.000	A
MUC17	140453	genome.wustl.edu	37	7	100681041	100681041	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:100681041C>A	ENST00000306151.4	+	3	6408	c.6344C>A	c.(6343-6345)gCc>gAc	p.A2115D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2115	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGCCGGTGGCCAGTCCTGAG	0.493																																																	0													214.0	217.0	216.0					7																	100681041		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6344C>A	7.37:g.100681041C>A	ENSP00000302716:p.Ala2115Asp		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A2115D	ENST00000306151.4	37	c.6344	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067790	0.07228	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.942	0.942	0.19525	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.28638	0.092	T	0.50964	-0.8765	9	0.31617	T	0.26	.	7.8457	0.29424	0.0:1.0:0.0:0.0	.	2115	Q685J3	MUC17_HUMAN	D	2115	ENSP00000302716:A2115D	ENSP00000302716:A2115D	A	+	2	0	MUC17	100467761	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.904000	0.28491	0.833000	0.34828	0.134000	0.15878	GCC	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	92	0	C	NM_001040105		100681041	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	34.29	92	48	SNP	0.003	A
MUC7	4589	genome.wustl.edu	37	4	71346520	71346520	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:71346520G>C	ENST00000304887.5	+	3	249	c.59G>C	c.(58-60)aGt>aCt	p.S20T	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S20T|MUC7_ENST00000456088.1_Missense_Mutation_p.S20T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	20					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S20I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ctgcagTTCAGTGAAGGTCGA	0.398																																																	1	Substitution - Missense(1)	lung(1)											106.0	105.0	105.0					4																	71346520		2203	4300	6503	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.59G>C	4.37:g.71346520G>C	ENSP00000302021:p.Ser20Thr		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.S20T	ENST00000304887.5	37	c.59	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465066	0.26335	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.53640	0.62;0.61;0.62;0.62	3.85	3.01	0.34805	.	.	.	.	.	T	0.48502	0.1503	N	0.24115	0.695	0.20975	N	0.999813	D	0.64830	0.994	D	0.62955	0.909	T	0.26677	-1.0096	9	0.87932	D	0	-6.8872	7.4265	0.27102	0.1183:0.0:0.8817:0.0	.	20	Q8TAX7	MUC7_HUMAN	T	20	ENSP00000407422:S20T;ENSP00000427594:S20T;ENSP00000400585:S20T;ENSP00000302021:S20T	ENSP00000302021:S20T	S	+	2	0	MUC7	71381109	1.000000	0.71417	0.972000	0.41901	0.425000	0.31504	1.866000	0.39489	1.201000	0.43203	0.655000	0.94253	AGT	MUC7	-	NULL	ENSG00000171195		0.398	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	-	0.00	27	0	G	NM_152291		71346520	+1	tier1	-	no_errors	ENST00000304887	ensembl	human	known	74_37	missense	53.19	22	25	SNP	0.979	C
MYNN	55892	genome.wustl.edu	37	3	169492192	169492192	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:169492192G>T	ENST00000349841.5	+	2	772	c.109G>T	c.(109-111)Gct>Tct	p.A37S	MYNN_ENST00000392733.1_Missense_Mutation_p.A37S|MYNN_ENST00000544106.1_Missense_Mutation_p.A37S|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.A37S|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCAGTTTAAAGCTCATAGGAA	0.453																																																	0													208.0	192.0	197.0					3																	169492192		2203	4300	6503	SO:0001583	missense	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.109G>T	3.37:g.169492192G>T	ENSP00000326240:p.Ala37Ser		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A37S	ENST00000349841.5	37	c.109	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.434332	0.96150	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.7	5.7	0.88788	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.076777	0.53938	D	0.000043	D	0.90889	0.7137	M	0.94101	3.495	0.54753	D	0.999983	P;D	0.52996	0.865;0.957	P;P	0.61275	0.736;0.886	D	0.92581	0.6074	10	0.87932	D	0	.	19.8481	0.96728	0.0:0.0:1.0:0.0	.	37;37	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	S	37	ENSP00000349150:A37S;ENSP00000326240:A37S;ENSP00000376492:A37S;ENSP00000440637:A37S	ENSP00000326240:A37S	A	+	1	0	MYNN	170974886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.705000	0.92388	0.650000	0.86243	GCT	MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000085274		0.453	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	-	0.00	66	0	G	NM_018657		169492192	+1	tier1	-	no_errors	ENST00000349841	ensembl	human	known	74_37	missense	9.42	202	21	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41932534	41932534	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:41932534G>T	ENST00000379406.3	+	11	1506	c.1182G>T	c.(1180-1182)ttG>ttT	p.L394F	NAA16_ENST00000403412.3_Missense_Mutation_p.L394F|NAA16_ENST00000379367.3_Missense_Mutation_p.L394F	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	394					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTTTGGATTATATTA	0.368																																																	0													93.0	92.0	92.0					13																	41932534		2203	4300	6503	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1182G>T	13.37:g.41932534G>T	ENSP00000368716:p.Leu394Phe		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L394F	ENST00000379406.3	37	c.1182	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505889	0.26949	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.69175	0.64;0.64;-0.38	4.82	2.68	0.31781	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.52532	D	0.000076	T	0.78874	0.4352	M	0.79475	2.455	0.54753	D	0.999985	P;D	0.89917	0.886;1.0	P;D	0.97110	0.744;1.0	T	0.79176	-0.1911	10	0.62326	D	0.03	-5.581	9.4543	0.38745	0.2627:0.0:0.7373:0.0	.	394;394	Q6N069;Q6N069-4	NAA16_HUMAN;.	F	394	ENSP00000368674:L394F;ENSP00000368716:L394F;ENSP00000386103:L394F	ENSP00000368674:L394F	L	+	3	2	NAA16	40830534	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	1.682000	0.37628	1.005000	0.39183	0.484000	0.47621	TTG	NAA16	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000172766		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0.00	62	0	G	NM_018527		41932534	+1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.999	T
MYO16	23026	genome.wustl.edu	37	13	109704676	109704676	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:109704676G>T	ENST00000357550.2	+	24	2876	c.2835G>T	c.(2833-2835)ttG>ttT	p.L945F	MYO16_ENST00000457511.2_Missense_Mutation_p.L457F|MYO16_ENST00000356711.2_Missense_Mutation_p.L945F	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAATCATTTGTTCCAGTCGA	0.358																																																	0													129.0	110.0	117.0					13																	109704676		2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2835G>T	13.37:g.109704676G>T	ENSP00000350160:p.Leu945Phe			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L945F	ENST00000357550.2	37	c.2835	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107624	0.77096	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.96427	-4.01;-4.01;-4.01	5.96	5.96	0.96718	Myosin head, motor domain (2);	0.000000	0.33346	U	0.005005	D	0.97860	0.9297	M	0.73319	2.225	0.44247	D	0.997093	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.74348	0.97;0.932;0.983	D	0.97509	1.0065	9	.	.	.	.	19.3889	0.94570	0.0:0.0:1.0:0.0	.	457;945;945	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	F	945;945;733;457	ENSP00000349145:L945F;ENSP00000350160:L945F;ENSP00000401633:L457F	.	L	+	3	2	MYO16	108502677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.635000	0.46537	2.826000	0.97356	0.655000	0.94253	TTG	MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.358	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	33	0	G	NM_015011		109704676	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	15.71	59	11	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	20066599	20066599	+	Silent	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:20066599C>A	ENST00000396087.3	+	15	3453	c.3354C>A	c.(3352-3354)ggC>ggA	p.G1118G	NAV2_ENST00000396085.1_Silent_p.G1095G|NAV2_ENST00000540292.1_Silent_p.G1049G|NAV2_ENST00000533917.1_Silent_p.G181G|NAV2_ENST00000527559.2_Silent_p.G1047G|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Silent_p.G1031G|NAV2_ENST00000349880.4_Silent_p.G1095G|NAV2_ENST00000311043.8_Silent_p.G181G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1118					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGATGCAGGCCGGAGCAGTG	0.537																																																	0													68.0	62.0	64.0					11																	20066599		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3354C>A	11.37:g.20066599C>A			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.G1118	ENST00000396087.3	37	c.3354	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.537	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	43	0	C	NM_145117		20066599	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.680	A
NDST3	9348	genome.wustl.edu	37	4	119163246	119163246	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:119163246G>A	ENST00000296499.5	+	12	2744	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	781	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TACAGTGATGGATGAAGTACA	0.313																																																	0													121.0	127.0	125.0					4																	119163246		2203	4299	6502	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2341G>A	4.37:g.119163246G>A	ENSP00000296499:p.Asp781Asn		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D781N	ENST00000296499.5	37	c.2341	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155176	0.78114	.	.	ENSG00000164100	ENST00000296499	T	0.54479	0.57	5.88	5.88	0.94601	Sulfotransferase domain (1);	0.158702	0.53938	D	0.000043	T	0.49541	0.1563	N	0.16567	0.415	0.80722	D	1	P	0.46784	0.884	P	0.52386	0.697	T	0.29088	-1.0023	10	0.09338	T	0.73	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	781	O95803	NDST3_HUMAN	N	781	ENSP00000296499:D781N	ENSP00000296499:D781N	D	+	1	0	NDST3	119382694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.778000	0.95560	0.655000	0.94253	GAT	NDST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000164100		0.313	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0.00	53	0	G	NM_004784		119163246	+1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	A
NKAIN3	286183	genome.wustl.edu	37	8	63878010	63878011	+	Intron	DNP	GC	GC	TT	rs540569016		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:63878010_63878011GC>TT	ENST00000523211.1	+	6	664				NKAIN3_ENST00000328472.5_Intron|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GATCCGACCCGCCTGACATTCC	0.485																																																	0																																										SO:0001627	intron_variant	0			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	Exception_encountered	8.37:g.63878010_63878011delinsTT				RNA	SNP	-	NULL	ENST00000523211.1	37	NULL	CCDS55239.1	8																																																																																			NKAIN3	-	-	ENSG00000185942		0.485	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN3	HGNC	protein_coding	OTTHUMT00000378447.2	-	0.00	23|24	0	G|C	NM_173688		63878010|63878011	+1	tier1	-	no_errors	ENST00000519049	ensembl	human	known	74_37	rna	33.33	12	6	SNP	0.000|0.001	T
NKTR	4820	genome.wustl.edu	37	3	42659117	42659117	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:42659117C>G	ENST00000232978.8	+	3	302	c.114C>G	c.(112-114)aaC>aaG	p.N38K	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.N38K|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	38	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CATGCAAAAACTTCCTTTGCT	0.333																																																	0													141.0	126.0	131.0					3																	42659117		2203	4298	6501	SO:0001583	missense	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.114C>G	3.37:g.42659117C>G	ENSP00000232978:p.Asn38Lys			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.N38K	ENST00000232978.8	37	c.114	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636640	0.67130	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.32753	1.44;1.44;1.44	5.45	3.62	0.41486	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.79364	-0.1834	10	0.87932	D	0	-24.4646	10.0892	0.42436	0.0:0.7832:0.0:0.2168	.	38;38	P30414;A8K7K2	NKTR_HUMAN;.	K	38	ENSP00000232978:N38K;ENSP00000390259:N38K;ENSP00000408660:N38K	ENSP00000232978:N38K	N	+	3	2	NKTR	42634121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.755000	0.47540	1.429000	0.47314	0.655000	0.94253	AAC	NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000114857		0.333	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	-	0.00	43	0	C	NM_005385		42659117	+1	tier1	-	no_errors	ENST00000232978	ensembl	human	known	74_37	missense	50.00	18	18	SNP	1.000	G
NOTCH1	4851	genome.wustl.edu	37	9	139418316	139418317	+	Frame_Shift_Ins	INS	-	-	A	rs373941045		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:139418316_139418317insA	ENST00000277541.6	-	3	330_331	c.255_256insT	c.(253-258)tatgccfs	p.A86fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	86	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCTGCAGGCATAGTCTGCCA	0.688			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.256dupT	9.37:g.139418317_139418317dupA	ENSP00000277541:p.Ala86fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.A85fs	ENST00000277541.6	37	c.256_255	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.688	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	102	0	-	NM_017617		139418317	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_ins	68.29	26	56	INS	0.309:0.316	A
NR1I2	8856	genome.wustl.edu	37	3	119530496	119530496	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:119530496C>T	ENST00000337940.4	+	4	607	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	NR1I2_ENST00000466380.1_Missense_Mutation_p.R148W|NR1I2_ENST00000393716.2_Missense_Mutation_p.R148W	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	148	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGAGGAGCAGCGGATGATGAT	0.562																																																	0													117.0	108.0	111.0					3																	119530496		2203	4300	6503	SO:0001583	missense	0			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.559C>T	3.37:g.119530496C>T	ENSP00000336528:p.Arg187Trp		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.R187W	ENST00000337940.4	37	c.559	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031612	0.35797	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95238	-3.65;-3.65;-3.65	4.91	3.04	0.35103	Nuclear hormone receptor, ligand-binding (2);	0.753921	0.12196	N	0.490702	D	0.90515	0.7028	L	0.44542	1.39	0.23138	N	0.998236	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.0;0.0;0.003	T	0.83017	-0.0169	10	0.87932	D	0	.	6.8278	0.23893	0.173:0.7296:0.0:0.0974	.	148;187;171	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	W	148;148;187	ENSP00000377319:R148W;ENSP00000420297:R148W;ENSP00000336528:R187W	ENSP00000336528:R187W	R	+	1	2	NR1I2	121013186	0.312000	0.24545	0.519000	0.27824	0.931000	0.56810	0.560000	0.23500	0.602000	0.29896	0.591000	0.81541	CGG	NR1I2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000144852		0.562	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	-	0.00	67	0	C			119530496	+1	tier1	-	no_errors	ENST00000337940	ensembl	human	known	74_37	missense	27.40	53	20	SNP	0.534	T
NR2E1	7101	genome.wustl.edu	37	6	108489319	108489319	+	Intron	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:108489319C>T	ENST00000368986.4	+	1	733				NR2E1_ENST00000368983.3_Missense_Mutation_p.P30L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1						aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CTGGGTTTCCCTTTAGGCTCG	0.607																																																	0													13.0	13.0	13.0					6																	108489319		875	1991	2866	SO:0001627	intron_variant	0			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.25+1325C>T	6.37:g.108489319C>T			Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P30L	ENST00000368986.4	37	c.89	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451965	0.26074	.	.	ENSG00000112333	ENST00000368983	D	0.91295	-2.82	3.97	0.955	0.19602	.	606.985000	0.00357	N	0.000024	T	0.70141	0.3190	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.63773	-0.6561	7	0.28530	T	0.3	.	2.9999	0.06010	0.314:0.4161:0.0:0.2698	.	.	.	.	L	30	ENSP00000357979:P30L	ENSP00000357979:P30L	P	+	2	0	NR2E1	108596012	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.379000	0.07437	0.172000	0.19760	0.561000	0.74099	CCT	NR2E1	-	NULL	ENSG00000112333		0.607	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	-	0.00	68	0	C			108489319	+1	tier1	-	no_errors	ENST00000368983	ensembl	human	novel	74_37	missense	68.42	12	26	SNP	0.000	T
NSD1	64324	genome.wustl.edu	37	5	176618958	176618958	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr5:176618958G>T	ENST00000439151.2	+	3	1046	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	NSD1_ENST00000354179.4_Missense_Mutation_p.R65L|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000347982.4_Missense_Mutation_p.R65L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	334	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCAAGAGACGCCCATGGTGG	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													98.0	99.0	99.0					5																	176618958		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1001G>T	5.37:g.176618958G>T	ENSP00000395929:p.Arg334Leu		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R334L	ENST00000439151.2	37	c.1001	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781666	0.90282	.	.	ENSG00000165671	ENST00000510954;ENST00000354179;ENST00000355783;ENST00000508896;ENST00000439151;ENST00000347982	T;T;T;T;T	0.69175	-0.38;1.6;1.6;1.6;1.6	5.44	5.44	0.79542	PWWP (3);	0.000000	0.51477	D	0.000088	T	0.79488	0.4454	M	0.63428	1.95	0.40830	D	0.983585	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77472	-0.2575	10	0.33141	T	0.24	.	17.0262	0.86447	0.0:0.0:1.0:0.0	.	65;334	Q96L73-2;Q96L73	.;NSD1_HUMAN	L	65;65;65;65;334;65	ENSP00000423982:R65L;ENSP00000346111:R65L;ENSP00000423372:R65L;ENSP00000395929:R334L;ENSP00000343209:R65L	ENSP00000343209:R65L	R	+	2	0	NSD1	176551564	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.380000	0.73158	2.566000	0.86566	0.591000	0.81541	CGC	NSD1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000165671		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0.00	54	0	G	NM_172349		176618958	+1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
NTN4	59277	genome.wustl.edu	37	12	96180836	96180837	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:96180836_96180837GC>AA	ENST00000343702.4	-	2	913_914	c.465_466GC>TT	c.(463-468)aaGCct>aaTTct	p.155_156KP>NS	NTN4_ENST00000538383.1_Missense_Mutation_p.118_119KP>NS|NTN4_ENST00000344911.4_Missense_Mutation_p.118_119KP>NS|NTN4_ENST00000553059.1_Missense_Mutation_p.155_156KP>NS	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	155	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TACTTATAAGGCTTCCATGTTT	0.475																																																	0																																										SO:0001583	missense	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.465_466delinsAA	12.37:g.96180836_96180837delinsAA	ENSP00000340998:p.K155_P156delinsNS		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,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.P156S|p.K155N	ENST00000343702.4	37	c.466|c.465	CCDS9054.1	12																																																																																			NTN4	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000074527		0.475	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	-	0.00	49|48	0	G|C	NM_021229		96180836|96180837	-1	tier1	-	no_errors	ENST00000343702	ensembl	human	known	74_37	missense	24.56|25.00	43|42	14	SNP	1.000	A
NTRK1	4914	genome.wustl.edu	37	1	156837937	156837937	+	Missense_Mutation	SNP	G	G	A	rs141021604		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:156837937G>A	ENST00000524377.1	+	5	511	c.470G>A	c.(469-471)cGc>cAc	p.R157H	NTRK1_ENST00000368196.3_Missense_Mutation_p.R157H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R157H|NTRK1_ENST00000392302.2_Missense_Mutation_p.R127H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	157	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGTGCCCTGCGCTGGCTACAG	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17115	0.0		0.0	False		,,,				2504	0.0							Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0								G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	60.0	66.0	64.0		380,470,470	-7.4	0.7	1	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign	127/761,157/791,157/797	156837937	4,13002	2203	4300	6503	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.470G>A	1.37:g.156837937G>A	ENSP00000431418:p.Arg157His		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R157H	ENST00000524377.1	37	c.470	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204998	0.38905	4.54E-4	2.33E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.21	-7.42	0.01388	Cysteine-rich flanking region, C-terminal (1);	1.272030	0.05401	N	0.540660	T	0.60702	0.2289	N	0.14661	0.345	0.32529	N	0.535196	B;B;B;B	0.14012	0.008;0.009;0.002;0.005	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.10941	-1.0608	10	0.32370	T	0.25	.	4.6753	0.12708	0.3818:0.0:0.2956:0.3226	.	157;157;157;127	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	127;157;157;157	ENSP00000376120:R127H;ENSP00000357179:R157H;ENSP00000431418:R157H;ENSP00000351486:R157H	ENSP00000351486:R157H	R	+	2	0	NTRK1	155104561	0.001000	0.12720	0.659000	0.29680	0.995000	0.86356	-0.726000	0.04936	-1.584000	0.01636	0.462000	0.41574	CGC	NTRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000198400		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0.00	54	0	G	NM_002529		156837937	+1	tier1	rs141021604	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	54.79	33	40	SNP	0.767	A
OR10G7	390265	genome.wustl.edu	37	11	123908903	123908903	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:123908903C>G	ENST00000330487.5	-	1	814	c.806G>C	c.(805-807)gGg>gCg	p.G269A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGCCACAACCCCATGCAAGGC	0.517																																																	0													100.0	90.0	94.0					11																	123908903		2200	4299	6499	SO:0001583	missense	0			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.806G>C	11.37:g.123908903C>G	ENSP00000329689:p.Gly269Ala		Q6IFE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G269A	ENST00000330487.5	37	c.806	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.661680	0.00772	.	.	ENSG00000182634	ENST00000330487	T	0.00044	8.83	3.38	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.358709	0.20313	N	0.094782	T	0.00073	0.0002	N	0.12182	0.205	0.09310	N	1	B	0.15141	0.012	B	0.26310	0.068	T	0.31668	-0.9935	10	0.40728	T	0.16	.	1.4494	0.02372	0.2329:0.2042:0.3731:0.1898	.	269	Q8NGN6	O10G7_HUMAN	A	269	ENSP00000329689:G269A	ENSP00000329689:G269A	G	-	2	0	OR10G7	123414113	0.000000	0.05858	0.010000	0.14722	0.169000	0.22640	0.074000	0.14662	-0.046000	0.13446	0.557000	0.71058	GGG	OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182634		0.517	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	-	0.00	108	0	C	NM_001004463		123908903	-1	tier1	-	no_errors	ENST00000330487	ensembl	human	known	74_37	missense	53.40	48	55	SNP	0.000	G
OR1J1	347168	genome.wustl.edu	37	9	125239311	125239311	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:125239311C>T	ENST00000259357.2	-	1	924	c.895G>A	c.(895-897)Gga>Aga	p.G299R	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CTTAGGGCTCCCTTAATGTCT	0.453																																																	0													93.0	87.0	89.0					9																	125239311		2203	4300	6503	SO:0001583	missense	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.895G>A	9.37:g.125239311C>T	ENSP00000259357:p.Gly299Arg		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G299R	ENST00000259357.2	37	c.895	CCDS35120.1	9	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.053975	0.07362	.	.	ENSG00000136834	ENST00000259357	T	0.34472	1.36	4.93	4.02	0.46733	.	0.104599	0.42964	D	0.000635	T	0.17023	0.0409	N	0.11892	0.195	0.22185	N	0.999305	B	0.12013	0.005	B	0.12837	0.008	T	0.17837	-1.0356	10	0.15952	T	0.53	.	6.1941	0.20540	0.3363:0.5786:0.0:0.0851	.	299	Q8NGS3	OR1J1_HUMAN	R	299	ENSP00000259357:G299R	ENSP00000259357:G299R	G	-	1	0	OR1J1	124279132	0.000000	0.05858	0.990000	0.47175	0.004000	0.04260	0.004000	0.13106	1.448000	0.47680	0.597000	0.82753	GGA	OR1J1	-	NULL	ENSG00000136834		0.453	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	-	0.00	77	0	C			125239311	-1	tier1	-	no_errors	ENST00000259357	ensembl	human	known	74_37	missense	30.30	69	30	SNP	0.607	T
OR5D13	390142	genome.wustl.edu	37	11	55541412	55541412	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:55541412G>A	ENST00000361760.1	+	1	499	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTCTTGACTTATCGTT	0.423																																																	0													145.0	142.0	143.0					11																	55541412		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.499G>A	11.37:g.55541412G>A	ENSP00000354800:p.Asp167Asn		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D167N	ENST00000361760.1	37	c.499	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980129	0.18812	.	.	ENSG00000198877	ENST00000361760	T	0.00091	8.74	3.3	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	2.938900	0.01818	U	0.033877	T	0.00073	0.0002	N	0.01410	-0.885	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.24190	-1.0167	10	0.52906	T	0.07	1.1767	4.5214	0.11960	0.4235:0.3397:0.2368:0.0	.	167	Q8NGL4	OR5DD_HUMAN	N	167	ENSP00000354800:D167N	ENSP00000354800:D167N	D	+	1	0	OR5D13	55297988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.294000	0.00523	-0.064000	0.13043	-0.400000	0.06385	GAC	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198877		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0.00	51	0	G	NM_001001967		55541412	+1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	19.30	46	11	SNP	0.000	A
PAFAH2	5051	genome.wustl.edu	37	1	26299081	26299081	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:26299081C>T	ENST00000374282.3	-	10	1231	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R351Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	351					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CAACATGGCCCGTACCATAAC	0.532																																																	0													57.0	53.0	54.0					1																	26299081		2203	4300	6503	SO:0001583	missense	0			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.1052G>A	1.37:g.26299081C>T	ENSP00000363400:p.Arg351Gln		D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote	p.R351Q	ENST00000374282.3	37	c.1052	CCDS270.1	1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416840	0.42918	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.54866	0.55;0.55	5.57	2.24	0.28232	.	0.336112	0.25777	N	0.028368	T	0.32346	0.0826	L	0.29908	0.895	0.26314	N	0.977778	B	0.13145	0.007	B	0.06405	0.002	T	0.12889	-1.0530	10	0.15066	T	0.55	-11.5114	5.8195	0.18520	0.0:0.5134:0.0:0.4866	.	351	Q99487	PAFA2_HUMAN	Q	351	ENSP00000363400:R351Q;ENSP00000363402:R351Q	ENSP00000363400:R351Q	R	-	2	0	PAFAH2	26171668	0.090000	0.21635	0.998000	0.56505	0.775000	0.43874	0.067000	0.14510	0.705000	0.31890	0.478000	0.44815	CGG	PAFAH2	-	pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote	ENSG00000158006		0.532	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH2	HGNC	protein_coding	OTTHUMT00000019544.1	-	0.00	61	0	C	NM_000437		26299081	-1	tier1	-	no_errors	ENST00000374282	ensembl	human	known	74_37	missense	39.68	38	25	SNP	0.963	T
PDE8A	5151	genome.wustl.edu	37	15	85652346	85652346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:85652346delT	ENST00000310298.4	+	13	1351	c.1099delT	c.(1099-1101)tccfs	p.S367fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.S295fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.S367fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.S321fs|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	367					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	AGCTGTTGCCTCCCGTGCAAC	0.438																																																	0													100.0	94.0	96.0					15																	85652346		2203	4299	6502	SO:0001589	frameshift_variant	0			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1099delT	15.37:g.85652346delT	ENSP00000311453:p.Ser367fs		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.S367fs	ENST00000310298.4	37	c.1099	CCDS10336.1	15																																																																																			PDE8A	-	NULL	ENSG00000073417		0.438	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1		0.00	39	0	T	NM_002605		85652346	+1	tier1		no_errors	ENST00000310298	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	0.510	-
PEX5	5830	genome.wustl.edu	37	12	7343151	7343151	+	Intron	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:7343151G>C	ENST00000455147.2	+	3	727				PEX5_ENST00000412720.2_Intron|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000434354.2_Missense_Mutation_p.A60P|PEX5_ENST00000420616.2_Intron|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266563.5_Intron|PEX5_ENST00000266564.3_Intron|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAGCCCAGGTGCAGCCTCTGA	0.632																																																	0													10.0	12.0	12.0					12																	7343151		2163	4228	6391	SO:0001627	intron_variant	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+31G>C	12.37:g.7343151G>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A60P	ENST00000455147.2	37	c.178	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160424	0.09287	.	.	ENSG00000139197	ENST00000434354;ENST00000396637	D;D	0.87650	-2.28;-2.1	.	.	.	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.09310	N	0.999999	P	0.42993	0.797	B	0.31191	0.125	T	0.61525	-0.7045	5	.	.	.	.	.	.	.	.	60	B4DZ45	.	P	60	ENSP00000407401:A60P;ENSP00000379877:A60P	.	A	+	1	0	PEX5	7234418	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	0.032000	0.13732	0.502000	0.28037	0.000000	0.15137	GCA	PEX5	-	NULL	ENSG00000139197		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	-	0.00	44	0	G	NM_000319		7343151	+1	tier1	-	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.005	C
PGAM2	5224	genome.wustl.edu	37	7	44104883	44104883	+	Silent	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:44104883C>A	ENST00000297283.3	-	1	303	c.246G>T	c.(244-246)gtG>gtT	p.V82V	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	82					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GCCAAGTGCGCACCACAGGCA	0.622																																																	0													79.0	71.0	73.0					7																	44104883		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.246G>T	7.37:g.44104883C>A				Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.V82	ENST00000297283.3	37	c.246	CCDS34624.1	7																																																																																			PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000164708		0.622	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	-	0.00	42	0	C			44104883	-1	tier1	-	no_errors	ENST00000297283	ensembl	human	known	74_37	silent	25.81	46	16	SNP	0.854	A
PIEZO1	9780	genome.wustl.edu	37	16	88788401	88788401	+	Missense_Mutation	SNP	G	G	C	rs144994831		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:88788401G>C	ENST00000301015.9	-	37	5275	c.5029C>G	c.(5029-5031)Cgg>Ggg	p.R1677G	PIEZO1_ENST00000327397.7_5'Flank|RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1677					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TACACGGCCCGCAGCAGCCGC	0.682																																																	0													10.0	23.0	19.0					16																	88788401		685	1563	2248	SO:0001583	missense	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5029C>G	16.37:g.88788401G>C	ENSP00000301015:p.Arg1677Gly		A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Piezo	p.R1677G	ENST00000301015.9	37	c.5029	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.400|8.400	0.841774|0.841774	0.16963|0.16963	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000451779|ENST00000301015	.|T	.|0.25749	.|1.78	4.81|4.81	-3.03|-3.03	0.05429|0.05429	.|.	.|0.791814	.|0.11850	.|N	.|0.523391	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B	.|0.23058	.|0.079	.|B	.|0.19666	.|0.026	T|T	0.25606|0.25606	-1.0127|-1.0127	5|10	.|0.26408	.|T	.|0.33	-5.5032|-5.5032	0.5725|0.5725	0.00698|0.00698	0.295:0.1244:0.3301:0.2505|0.295:0.1244:0.3301:0.2505	.|.	.|1677	.|Q92508	.|PIEZ1_HUMAN	G|G	1622|1677	.|ENSP00000301015:R1677G	.|ENSP00000301015:R1677G	A|R	-|-	2|1	0|2	FAM38A|FAM38A	87315902|87315902	0.269000|0.269000	0.24143|0.24143	0.396000|0.396000	0.26296|0.26296	0.209000|0.209000	0.24338|0.24338	0.555000|0.555000	0.23422|0.23422	-0.768000|-0.768000	0.04626|0.04626	-0.339000|-0.339000	0.08088|0.08088	GCG|CGG	PIEZO1	-	NULL	ENSG00000103335		0.682	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	-	0.00	63	0	G	NM_014745		88788401	-1	tier1	-	no_errors	ENST00000301015	ensembl	human	novel	74_37	missense	30.49	57	25	SNP	0.960	C
PLXNB2	23654	genome.wustl.edu	37	22	50715316	50715316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr22:50715316delA	ENST00000449103.1	-	34	5356	c.5216delT	c.(5215-5217)ctgfs	p.L1740fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.L1740fs			O15031	PLXB2_HUMAN	plexin B2	1740					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCGTACAGCAGCTTGTTGCT	0.627																																																	0													42.0	43.0	43.0					22																	50715316		1937	4139	6076	SO:0001589	frameshift_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5216delT	22.37:g.50715316delA	ENSP00000409171:p.Leu1740fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,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.L1739fs	ENST00000449103.1	37	c.5216	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0.00	43	0	A	NM_012401		50715316	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	35.05	63	34	DEL	1.000	-
PRRG2	5639	genome.wustl.edu	37	19	50093637	50093637	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:50093637G>A	ENST00000246794.5	+	7	769	c.600G>A	c.(598-600)agG>agA	p.R200R	PRRG2_ENST00000596700.1_3'UTR|PRR12_ENST00000418929.2_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	200						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GCCTCAGGAGGCCTCACTGAA	0.597																																																	0													156.0	150.0	152.0					19																	50093637		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.600G>A	19.37:g.50093637G>A			Q6IBF8	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.R200	ENST00000246794.5	37	c.600	CCDS12773.1	19																																																																																			PRRG2	-	NULL	ENSG00000126460		0.597	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0.00	70	0	G	NM_000951		50093637	+1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	silent	46.88	34	30	SNP	0.282	A
PTP4A2	8073	genome.wustl.edu	37	1	32384717	32384717	+	5'UTR	DEL	A	A	-	rs532230753|rs370536901	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:32384717delA	ENST00000602725.1	-	0	367				PTP4A2_ENST00000470404.1_5'UTR|PTP4A2_ENST00000344035.6_5'UTR|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000356536.3_5'UTR|PTP4A2_ENST00000457805.2_5'UTR|PTP4A2_ENST00000526960.1_5'Flank			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2						peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GGGGAAAGTGAAAAAAAAAAA	0.368													|||unknown(HR)	282	0.0563099	0.1762	0.013	5008	,	,		21482	0.0079		0.0139	False		,,,				2504	0.0184																0													35.0	38.0	37.0					1																	32384717		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.-51T>-	1.37:g.32384717delA			A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	RNA	DEL	-	NULL	ENST00000602725.1	37	NULL	CCDS348.1	1																																																																																			PTP4A2	-	-	ENSG00000184007		0.368	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A2	HGNC	protein_coding	OTTHUMT00000468092.1		0.00	47	0	A	NM_080391		32384717	-1	tier1		no_errors	ENST00000532289	ensembl	human	known	74_37	rna	12.82	34	5	DEL	0.000	-
PTCH2	8643	genome.wustl.edu	37	1	45292310	45292310	+	Silent	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:45292310C>T	ENST00000372192.3	-	18	2956	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V	PTCH2_ENST00000447098.2_Silent_p.V942V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	942					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGTAGGCGTGCACCCCAGCCT	0.667									Basal Cell Nevus syndrome																																								0													19.0	22.0	21.0					1																	45292310		2200	4299	6499	SO:0001819	synonymous_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2826G>A	1.37:g.45292310C>T			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.V942	ENST00000372192.3	37	c.2826	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.667	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	-	0.00	42	0	C	NM_003738		45292310	-1	tier1	-	no_errors	ENST00000372192	ensembl	human	known	74_37	silent	26.67	33	12	SNP	0.999	T
RABL2A	11159	genome.wustl.edu	37	2	114398886	114398886	+	Intron	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:114398886C>G	ENST00000393167.3	+	7	634				RABL2A_ENST00000409875.1_Intron|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393166.3_Intron|RABL2A_ENST00000478880.1_Intron|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393165.3_Intron	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						TCCAAACCTTCTTCCCTTCCC	0.493																																																	0													76.0	76.0	76.0					2																	114398886		2203	4300	6503	SO:0001627	intron_variant	0				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.410-47C>G	2.37:g.114398886C>G			B7ZBD6|Q9NU37	RNA	SNP	-	NULL	ENST00000393167.3	37	NULL	CCDS2118.1	2																																																																																			RABL2A	-	-	ENSG00000144134		0.493	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2A	HGNC	protein_coding	OTTHUMT00000109047.2	-	0.00	66	0	C			114398886	+1	tier1	-	no_errors	ENST00000477218	ensembl	human	known	74_37	rna	25.30	62	21	SNP	0.026	G
RBM15	64783	genome.wustl.edu	37	1	110882727	110882728	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:110882727_110882728GC>TT	ENST00000369784.3	+	1	1600_1601	c.700_701GC>TT	c.(700-702)GCc>TTc	p.A234F	RBM15_ENST00000602849.1_Missense_Mutation_p.A234F|RBM15_ENST00000487146.2_Missense_Mutation_p.A234F|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	234	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAAGCATGCCAGAGGCCGC	0.594			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										SO:0001583	missense	0			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	Exception_encountered	1.37:g.110882727_110882728delinsTT	ENSP00000358799:p.Ala234Phe	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.A234S|p.A234V	ENST00000369784.3	37	c.700|c.701	CCDS822.1	1																																																																																			RBM15	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000162775		0.594	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	-	0.00	60|58	0	G|C	NM_022768		110882727|110882728	+1	tier1	-	no_errors	ENST00000369784	ensembl	human	known	74_37	missense	32.10	55	26	SNP	1.000	T
RBM43	375287	genome.wustl.edu	37	2	152108087	152108088	+	Frame_Shift_Ins	INS	-	-	T	rs142934811		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:152108087_152108088insT	ENST00000331426.5	-	4	557_558	c.406_407insA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TAAACTCGGGATTTTTTTTTTC	0.386																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.407dupA	2.37:g.152108097_152108097dupT	ENSP00000331211:p.Ile136fs		B2RMT5	Frame_Shift_Ins	INS	pfscan_RRM_dom	p.I136fs	ENST00000331426.5	37	c.407_406	CCDS2191.1	2																																																																																			RBM43	-	NULL	ENSG00000184898		0.386	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2		0.00	34	0	-	NM_198557		152108088	-1	tier1		no_errors	ENST00000331426	ensembl	human	known	74_37	frame_shift_ins	5.00	38	2	INS	0.964:0.959	T
REG1B	5968	genome.wustl.edu	37	2	79312718	79312718	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:79312718C>A	ENST00000305089.3	-	5	413	c.333G>T	c.(331-333)tgG>tgT	p.W111C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TACTCCAGTGCCAGCGGCGGT	0.547																																																	0													74.0	70.0	72.0					2																	79312718		2203	4300	6503	SO:0001583	missense	0				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.333G>T	2.37:g.79312718C>A	ENSP00000303206:p.Trp111Cys			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.W111C	ENST00000305089.3	37	c.333	CCDS1963.1	2	.	.	.	.	.	.	.	.	.	.	c	15.46	2.839783	0.51057	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.11930	2.73;2.73	3.05	3.05	0.35203	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.36740	N	0.002434	T	0.47414	0.1444	H	0.96691	3.865	0.27902	N	0.938944	D	0.89917	1.0	D	0.97110	1.0	T	0.51228	-0.8732	10	0.62326	D	0.03	.	9.7073	0.40222	0.0:1.0:0.0:0.0	.	111	P48304	REG1B_HUMAN	C	62;111	ENSP00000387410:W62C;ENSP00000303206:W111C	ENSP00000303206:W111C	W	-	3	0	REG1B	79166226	0.533000	0.26354	0.078000	0.20375	0.511000	0.34104	1.286000	0.33273	1.689000	0.51079	0.491000	0.48974	TGG	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172023		0.547	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	-	0.00	31	0	C	NM_006507		79312718	-1	tier1	-	no_errors	ENST00000305089	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.163	A
RIMKLB	57494	genome.wustl.edu	37	12	8904626	8904626	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:8904626G>A	ENST00000538135.1	+	4	1305	c.480G>A	c.(478-480)acG>acA	p.T160T	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.T160T|RIMKLB_ENST00000357529.3_Silent_p.T160T			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	160	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAAAGAATACGCGGGGTCACA	0.368																																																	0													153.0	141.0	145.0					12																	8904626		1849	4084	5933	SO:0001819	synonymous_variant	0			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.480G>A	12.37:g.8904626G>A			B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.T160	ENST00000538135.1	37	c.480	CCDS41748.1	12																																																																																			RIMKLB	-	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000166532		0.368	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	-	0.00	107	0	G	NM_020734		8904626	+1	tier1	-	no_errors	ENST00000357529	ensembl	human	known	74_37	silent	25.00	75	25	SNP	0.980	A
SCN1A	6323	genome.wustl.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:166872165C>T	ENST00000303395.4	-	17	3501	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1168I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	145.0	135.0	138.0		3502,3418,3502,3469	3.6	0.8	2	dbSNP_134	138	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	29,29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	1168/2010,1140/1982,1168/2010,1157/1999	166872165	1,13003	2203	4299	6502	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3502G>A	2.37:g.166872165C>T	ENSP00000303540:p.Val1168Ile		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.V1168I	ENST00000303395.4	37	c.3502	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	13.61	2.290024	0.40494	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.42	3.63	0.41609	Sodium ion transport-associated (1);	0.251153	0.27686	N	0.018261	T	0.72645	0.3486	L	0.38692	1.165	0.23293	N	0.997963	P;B;P	0.36712	0.566;0.003;0.484	B;B;B	0.37267	0.124;0.003;0.245	T	0.58567	-0.7614	10	0.18710	T	0.47	.	9.3209	0.37964	0.0:0.7803:0.0:0.2197	.	1157;1140;1168	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	1168;1168;1157;1140	ENSP00000407030:V1168I;ENSP00000303540:V1168I;ENSP00000364554:V1157I;ENSP00000386312:V1140I	ENSP00000303540:V1168I	V	-	1	0	SCN1A	166580411	1.000000	0.71417	0.812000	0.32479	0.893000	0.52053	2.644000	0.46613	0.668000	0.31126	-0.373000	0.07131	GTA	SCN1A	-	pfam_Na_trans_assoc	ENSG00000144285		0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0.00	55	0	C	NM_006920		166872165	-1	tier1	rs146374754	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.737	T
SERGEF	26297	genome.wustl.edu	37	11	17809891	17809891	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:17809891C>G	ENST00000265965.5	-	11	1269	c.1118G>C	c.(1117-1119)tGg>tCg	p.W373S	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	373					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTTTGGGGCCCAGACGTTGGC	0.607																																																	0													64.0	53.0	57.0					11																	17809891		2200	4293	6493	SO:0001583	missense	0			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.1118G>C	11.37:g.17809891C>G	ENSP00000265965:p.Trp373Ser		Q9UGK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.W373S	ENST00000265965.5	37	c.1118	CCDS7828.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.651|4.651	0.121051|0.121051	0.08881|0.08881	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000529151|ENST00000265965	.|D	.|0.83506	.|-1.73	5.41|5.41	3.51|3.51	0.40186|0.40186	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.364682	.|0.26535	.|N	.|0.023822	T|T	0.62368|0.62368	0.2422|0.2422	N|N	0.11341|0.11341	0.13|0.13	0.80722|0.80722	D|D	1|1	.|B	.|0.31503	.|0.326	.|B	.|0.32022	.|0.139	T|T	0.50939|0.50939	-0.8768|-0.8768	5|10	.|0.21014	.|T	.|0.42	-4.2328|-4.2328	4.0556|4.0556	0.09814|0.09814	0.1314:0.6:0.1273:0.1413|0.1314:0.6:0.1273:0.1413	.|.	.|373	.|Q9UGK8	.|SRGEF_HUMAN	R|S	237|373	.|ENSP00000265965:W373S	.|ENSP00000265965:W373S	G|W	-|-	1|2	0|0	SERGEF|SERGEF	17766467|17766467	0.756000|0.756000	0.28383|0.28383	0.996000|0.996000	0.52242|0.52242	0.353000|0.353000	0.29299|0.29299	0.089000|0.089000	0.15002|0.15002	0.625000|0.625000	0.30304|0.30304	0.561000|0.561000	0.74099|0.74099	GGG|TGG	SERGEF	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000129158		0.607	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERGEF	HGNC	protein_coding	OTTHUMT00000389538.1	-	0.00	39	0	C	NM_012139		17809891	-1	tier1	-	no_errors	ENST00000265965	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.996	G
SH3KBP1	30011	genome.wustl.edu	37	X	19568146	19568147	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:19568146_19568147insT	ENST00000397821.3	-	14	1729_1730	c.1439_1440insA	c.(1438-1440)accfs	p.T480fs	SH3KBP1_ENST00000379716.1_Frame_Shift_Ins_p.T242fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Ins_p.T219fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Ins_p.T443fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	480					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTCTGCTTGTGGTCGGATGACT	0.455																																																	0																																										SO:0001589	frameshift_variant	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1439_1440insA	X.37:g.19568146_19568147insT	ENSP00000380921:p.Thr480fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Ins	INS	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T481fs	ENST00000397821.3	37	c.1440_1439	CCDS14193.1	X																																																																																			SH3KBP1	-	NULL	ENSG00000147010		0.455	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1		0.00	62	0	-	NM_031892		19568147	-1	tier1		no_errors	ENST00000397821	ensembl	human	known	74_37	frame_shift_ins	61.29	24	38	INS	0.995:1.000	T
SH3KBP1	30011	genome.wustl.edu	37	X	19568147	19568147	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:19568147G>C	ENST00000397821.3	-	14	1729	c.1439C>G	c.(1438-1440)aCc>aGc	p.T480S	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.T242S|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.T219S|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.T443S	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	480					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCTGCTTGTGGTCGGATGACT	0.453																																																	0													193.0	164.0	174.0					X																	19568147		2203	4300	6503	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1439C>G	X.37:g.19568147G>C	ENSP00000380921:p.Thr480Ser		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T480S	ENST00000397821.3	37	c.1439	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208492	0.79240	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.62723	1.935	0.58432	D	0.999999	P;D;P	0.62365	0.517;0.991;0.953	B;P;B	0.51266	0.133;0.664;0.446	T	0.48990	-0.8985	10	0.72032	D	0.01	-12.2225	18.0381	0.89311	0.0:0.0:1.0:0.0	.	242;480;443	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	S	465;480;242;443;219;460	ENSP00000380921:T480S;ENSP00000369039:T242S;ENSP00000369020:T443S;ENSP00000442499:T219S;ENSP00000369049:T460S	ENSP00000369020:T443S	T	-	2	0	SH3KBP1	19478068	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.126000	0.77201	2.193000	0.70182	0.600000	0.82982	ACC	SH3KBP1	-	NULL	ENSG00000147010		0.453	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	-	0.00	61	0	G	NM_031892		19568147	-1	tier1	-	no_errors	ENST00000397821	ensembl	human	known	74_37	missense	63.33	19	38	SNP	1.000	C
SLC12A1	6557	genome.wustl.edu	37	15	48595067	48595067	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:48595067G>C	ENST00000558405.1	+	26	3299	c.3285G>C	c.(3283-3285)ttG>ttC	p.L1095F	SLC12A1_ENST00000396577.3_Missense_Mutation_p.L1095F|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L1095F			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1095					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAAATGTCTTGACATTTTACT	0.328																																																	0													71.0	73.0	72.0					15																	48595067		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3285G>C	15.37:g.48595067G>C	ENSP00000453409:p.Leu1095Phe		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L1095F	ENST00000558405.1	37	c.3285	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309700	0.60414	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.88431	-2.38;-2.37	5.86	2.9	0.33743	.	0.000000	0.64402	D	0.000002	D	0.95001	0.8382	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94549	0.7752	10	0.87932	D	0	.	9.6215	0.39723	0.3413:0.0:0.6587:0.0	.	1095;1095	E9PDW4;Q13621	.;S12A1_HUMAN	F	1095	ENSP00000370381:L1095F;ENSP00000379822:L1095F	ENSP00000370381:L1095F	L	+	3	2	SLC12A1	46382359	0.955000	0.32602	1.000000	0.80357	0.981000	0.71138	0.057000	0.14279	0.909000	0.36697	0.650000	0.86243	TTG	SLC12A1	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.328	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0.00	48	0	G			48595067	+1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.995	C
SLC26A7	115111	genome.wustl.edu	37	8	92406495	92406495	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:92406495C>A	ENST00000309536.2	+	19	2205	c.1985C>A	c.(1984-1986)cCg>cAg	p.P662Q	SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron	NM_134266.1	NP_599028.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACAATGCCACCGCTCTGAGGA	0.408																																																	0													86.0	85.0	86.0					8																	92406495		2203	4300	6503	SO:0001583	missense	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000309536.2:c.1985C>A	8.37:g.92406495C>A	ENSP00000309504:p.Pro662Gln			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.P662Q	ENST00000309536.2	37	c.1985	CCDS6255.1	8	.	.	.	.	.	.	.	.	.	.	C	9.807	1.181995	0.21787	.	.	ENSG00000147606	ENST00000309536	D	0.92495	-3.05	4.85	-0.775	0.10988	.	1.028200	0.07842	N	0.963202	D	0.83445	0.5256	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67158	-0.5741	9	0.38643	T	0.18	.	1.2831	0.02045	0.2911:0.0887:0.1616:0.4586	.	662	Q8TE54-2	.	Q	662	ENSP00000309504:P662Q	ENSP00000309504:P662Q	P	+	2	0	SLC26A7	92475671	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.274000	0.08537	-0.312000	0.08741	-0.414000	0.06135	CCG	SLC26A7	-	NULL	ENSG00000147606		0.408	SLC26A7-004	KNOWN	basic|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377012.1	-	0.00	67	0	C			92406495	+1	tier1	-	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.000	A
SLC47A1	55244	genome.wustl.edu	37	17	19398716	19398717	+	3'UTR	DNP	TG	TG	CC	rs200929717|rs149867096|rs57286394	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:19398716_19398717TG>CC	ENST00000584348.1	+	0	19_20				CTB-187M2.3_ENST00000582654.1_lincRNA			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1						organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	ctgctgctcctgctgctgctcc	0.673																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	Exception_encountered	17.37:g.19398716_19398717delinsCC			Q53HF5|Q6PD77|Q86VL4|Q9NVA3	RNA	SNP	-	NULL	ENST00000584348.1	37	NULL		17																																																																																			SLC47A1	-	-	ENSG00000142494		0.673	SLC47A1-013	KNOWN	basic	processed_transcript	SLC47A1	HGNC	protein_coding	OTTHUMT00000443476.1	-	0.00	30	0	T|G	NM_018242		19398716|19398717	+1	tier1	-	no_errors	ENST00000584348	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.010|0.014	C
SLK	9748	genome.wustl.edu	37	10	105762560	105762560	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:105762560A>T	ENST00000369755.3	+	9	2169	c.1624A>T	c.(1624-1626)Atc>Ttc	p.I542F	SLK_ENST00000335753.4_Missense_Mutation_p.I542F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	542	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAAGATGTGATCAGCAATAC	0.433																																					NSCLC(111;540 1651 1927 4474 17706)												0													98.0	97.0	97.0					10																	105762560		2203	4300	6503	SO:0001583	missense	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1624A>T	10.37:g.105762560A>T	ENSP00000358770:p.Ile542Phe		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom	p.I542F	ENST00000369755.3	37	c.1624	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	A	7.956	0.745950	0.15710	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70516	-0.49;-0.49	6.03	-0.422	0.12329	Protein kinase-like domain (1);	0.508313	0.20035	N	0.100625	T	0.57388	0.2050	L	0.29908	0.895	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.29353	0.101;0.047	T	0.54186	-0.8331	10	0.62326	D	0.03	.	12.1069	0.53818	0.4885:0.0:0.5115:0.0	.	542;542	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	F	542	ENSP00000336824:I542F;ENSP00000358770:I542F	ENSP00000336824:I542F	I	+	1	0	SLK	105752550	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	0.378000	0.20569	-0.040000	0.13580	0.454000	0.30748	ATC	SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.433	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	-	0.00	28	0	A	NM_014720		105762560	+1	tier1	-	no_errors	ENST00000369755	ensembl	human	known	74_37	missense	31.25	21	10	SNP	0.000	T
SPOCK3	50859	genome.wustl.edu	37	4	167658627	167658627	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:167658627C>T	ENST00000357154.3	-	11	1269	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	SPOCK3_ENST00000541354.1_Missense_Mutation_p.A258T|SPOCK3_ENST00000502330.1_Missense_Mutation_p.A378T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.A280T|SPOCK3_ENST00000421836.2_Missense_Mutation_p.A327T|SPOCK3_ENST00000541637.1_Missense_Mutation_p.A280T|SPOCK3_ENST00000534949.1_Missense_Mutation_p.A282T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.A375T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.A378T|SPOCK3_ENST00000504953.1_Missense_Mutation_p.A375T|SPOCK3_ENST00000511269.1_Missense_Mutation_p.A375T|SPOCK3_ENST00000535728.1_Missense_Mutation_p.A246T|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Missense_Mutation_p.A335T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.A378T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	378	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCACAATCTGCAACACCATTT	0.388																																																	0													283.0	264.0	270.0					4																	167658627		2203	4300	6503	SO:0001583	missense	0			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1132G>A	4.37:g.167658627C>T	ENSP00000349677:p.Ala378Thr		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.A378T	ENST00000357154.3	37	c.1132	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	8.502	0.864510	0.17250	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	0.97;0.97;0.97;0.97;0.97;0.97;-0.01;0.97;0.97;0.97;-0.01;0.97;0.97;0.97	5.41	2.68	0.31781	Thyroglobulin type-1 (5);	0.273372	0.40908	N	0.000992	T	0.58061	0.2096	L	0.37750	1.13	0.39782	D	0.972313	B;P;B;P;P;B;P	0.48834	0.364;0.633;0.201;0.916;0.916;0.005;0.896	B;B;B;P;P;B;P	0.51516	0.091;0.159;0.14;0.672;0.672;0.007;0.5	T	0.58803	-0.7572	10	0.52906	T	0.07	-14.5576	8.4579	0.32910	0.0:0.7308:0.1287:0.1405	.	280;282;327;387;335;375;378	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	T	378;375;375;378;378;378;335;258;280;375;246;327;280;282	ENSP00000349677:A378T;ENSP00000350153:A375T;ENSP00000425570:A375T;ENSP00000420920:A378T;ENSP00000423421:A378T;ENSP00000423606:A378T;ENSP00000426716:A335T;ENSP00000444789:A258T;ENSP00000426318:A280T;ENSP00000425502:A375T;ENSP00000441396:A246T;ENSP00000411344:A327T;ENSP00000445430:A280T;ENSP00000438142:A282T	ENSP00000349677:A378T	A	-	1	0	SPOCK3	167895202	0.992000	0.36948	0.114000	0.21550	0.026000	0.11368	2.049000	0.41288	0.745000	0.32763	0.643000	0.83706	GCA	SPOCK3	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000196104		0.388	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	-	0.00	31	0	C			167658627	-1	tier1	-	no_errors	ENST00000357154	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.567	T
SYCP1	6847	genome.wustl.edu	37	1	115537630	115537630	+	Nonsense_Mutation	SNP	T	T	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:115537630T>A	ENST00000369522.3	+	32	3161	c.2921T>A	c.(2920-2922)tTa>tAa	p.L974*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.L974*|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	974					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGAAAAGTTATTTGTTTAA	0.323																																																	0													32.0	36.0	35.0					1																	115537630		2199	4288	6487	SO:0001587	stop_gained	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2921T>A	1.37:g.115537630T>A	ENSP00000358535:p.Leu974*		O14963|Q5VXJ6	Nonsense_Mutation	SNP	pfam_SCP-1	p.L974*	ENST00000369522.3	37	c.2921	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	T	38	6.692910	0.97768	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	.	.	.	5.23	5.23	0.72850	.	0.084638	0.46758	D	0.000275	.	.	.	.	.	.	0.29804	N	0.832171	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.158	13.3352	0.60515	0.0:0.0:0.0:1.0	.	.	.	.	X	974	.	ENSP00000358531:L974X	L	+	2	0	SYCP1	115339153	0.337000	0.24766	0.920000	0.36463	0.451000	0.32288	4.828000	0.62730	1.961000	0.56991	0.374000	0.22700	TTA	SYCP1	-	NULL	ENSG00000198765		0.323	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	-	0.00	31	0	T	NM_003176		115537630	+1	tier1	-	no_errors	ENST00000369518	ensembl	human	known	74_37	nonsense	18.52	22	5	SNP	0.605	A
SYNE1	23345	genome.wustl.edu	37	6	152751661	152751661	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:152751661C>T	ENST00000367255.5	-	35	5246	c.4645G>A	c.(4645-4647)Gga>Aga	p.G1549R	SYNE1_ENST00000341594.5_Missense_Mutation_p.G1619R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1556R|SYNE1_ENST00000367253.4_Missense_Mutation_p.G1549R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1556R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1549R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1549					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATAAATGTCCCAGGATTGTT	0.398										HNSCC(10;0.0054)																																							0													166.0	159.0	161.0					6																	152751661		2202	4300	6502	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4645G>A	6.37:g.152751661C>T	ENSP00000356224:p.Gly1549Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.G1549R	ENST00000367255.5	37	c.4645	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909588	0.52439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.66	5.66	0.87406	.	0.203527	0.34268	N	0.004109	T	0.41373	0.1156	L	0.53249	1.67	0.80722	D	1	P;P;P;P;B	0.44478	0.747;0.49;0.836;0.49;0.432	B;B;P;B;B	0.47206	0.34;0.063;0.541;0.063;0.155	T	0.11991	-1.0565	10	0.15952	T	0.53	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	1532;1549;1549;1549;1556	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	R	1549;1556;1549;1556;1619;1549	ENSP00000356224:G1549R;ENSP00000396024:G1556R;ENSP00000265368:G1549R;ENSP00000390975:G1556R;ENSP00000341887:G1619R;ENSP00000356222:G1549R	ENSP00000265368:G1549R	G	-	1	0	SYNE1	152793354	1.000000	0.71417	0.829000	0.32907	0.856000	0.48823	6.736000	0.74811	2.832000	0.97577	0.655000	0.94253	GGA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	41	0	C	NM_182961		152751661	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.997	T
SYNPO2	171024	genome.wustl.edu	37	4	119978554	119978554	+	Splice_Site	SNP	A	A	C			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:119978554A>C	ENST00000307142.4	+	5	3448		c.e5-1		SYNPO2_ENST00000448416.2_Splice_Site	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2							actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATTGTTTTTAGGAGAGTGGG	0.388																																																	0													48.0	50.0	49.0					4																	119978554		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3253-1A>C	4.37:g.119978554A>C			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Splice_Site	SNP	-	e5-2	ENST00000307142.4	37	c.3253-2	CCDS34054.1	4	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297182	0.40694	.	.	ENSG00000172403	ENST00000307142;ENST00000448416;ENST00000504178	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4254	0.75045	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNPO2	120198002	1.000000	0.71417	0.570000	0.28473	0.326000	0.28443	5.063000	0.64332	2.056000	0.61249	0.482000	0.46254	.	SYNPO2	-	-	ENSG00000172403		0.388	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364018.1	-	0.00	40	0	A		Intron	119978554	+1	tier1	-	no_errors	ENST00000307142	ensembl	human	known	74_37	splice_site	21.43	44	12	SNP	1.000	C
TGFBR2	7048	genome.wustl.edu	37	3	30713299	30713299	+	Silent	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:30713299G>A	ENST00000295754.5	+	4	1006	c.624G>A	c.(622-624)aaG>aaA	p.K208K	TGFBR2_ENST00000359013.4_Silent_p.K233K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	208					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGACGCGGAAGCTCATGGAGT	0.537																																																	0													73.0	60.0	64.0					3																	30713299		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.624G>A	3.37:g.30713299G>A			B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K233	ENST00000295754.5	37	c.699	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2	ENSG00000163513		0.537	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	27	0	G			30713299	+1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.938	A
TLE4	7091	genome.wustl.edu	37	9	82336710	82336710	+	Silent	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:82336710C>T	ENST00000376552.2	+	17	2911	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	TLE4_ENST00000376520.4_Silent_p.G663G|TLE4_ENST00000376534.4_Silent_p.G268G|TLE4_ENST00000265284.6_Silent_p.G606G|TLE4_ENST00000376544.3_Silent_p.G562G|TLE4_ENST00000376537.4_Silent_p.G663G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	631					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTAATGATGGCACCAAGCTCT	0.527																																																	0													76.0	75.0	75.0					9																	82336710		2203	4300	6503	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1893C>T	9.37:g.82336710C>T			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G663	ENST00000376552.2	37	c.1989	CCDS43837.1	9																																																																																			TLE4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106829		0.527	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	-	0.00	40	0	C	XM_212237		82336710	+1	tier1	-	no_errors	ENST00000376520	ensembl	human	known	74_37	silent	37.21	27	16	SNP	1.000	T
TNC	3371	genome.wustl.edu	37	9	117838320	117838320	+	Missense_Mutation	SNP	C	C	T	rs139800185	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:117838320C>T	ENST00000350763.4	-	9	3352	c.2941G>A	c.(2941-2943)Gca>Aca	p.A981T	TNC_ENST00000535648.1_Missense_Mutation_p.A981T|TNC_ENST00000537320.1_Missense_Mutation_p.A981T|TNC_ENST00000345230.3_Missense_Mutation_p.A981T|TNC_ENST00000341037.4_Missense_Mutation_p.A981T|TNC_ENST00000340094.3_Missense_Mutation_p.A981T|TNC_ENST00000346706.3_Missense_Mutation_p.A981T|TNC_ENST00000423613.2_Missense_Mutation_p.A981T|TNC_ENST00000542877.1_Missense_Mutation_p.A981T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	981	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGTGGCTGCGTTGATGGTC	0.507																																																	0								C	THR/ALA	0,4406		0,0,2203	151.0	136.0	141.0		2941	5.2	0.6	9	dbSNP_134	141	3,8597	3.0+/-9.4	0,3,4297	no	missense	TNC	NM_002160.3	58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	981/2202	117838320	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2941G>A	9.37:g.117838320C>T	ENSP00000265131:p.Ala981Thr		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A981T	ENST00000350763.4	37	c.2941	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103327	0.76983	0.0	3.49E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.23	5.23	0.72850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.178728	0.49305	D	0.000148	T	0.73265	0.3565	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.945	T	0.76982	-0.2757	10	0.59425	D	0.04	.	19.146	0.93469	0.0:1.0:0.0:0.0	.	981;981	E9PC84;P24821	.;TENA_HUMAN	T	981	ENSP00000344400:A981T;ENSP00000438152:A981T;ENSP00000344555:A981T;ENSP00000345861:A981T;ENSP00000265131:A981T;ENSP00000339553:A981T;ENSP00000411406:A981T;ENSP00000443478:A981T;ENSP00000442242:A981T	ENSP00000344400:A981T	A	-	1	0	TNC	116878141	1.000000	0.71417	0.648000	0.29521	0.269000	0.26545	7.414000	0.80117	2.593000	0.87608	0.655000	0.94253	GCA	TNC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0.00	82	0	C	NM_002160		117838320	-1	tier1	rs139800185	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	22.77	78	23	SNP	1.000	T
TNN	63923	genome.wustl.edu	37	1	175054550	175054550	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:175054550C>T	ENST00000239462.4	+	6	1357	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P415R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTCTGCACCCGGGGACTGAG	0.602																																																	1	Substitution - Missense(1)	ovary(1)											54.0	47.0	50.0					1																	175054550		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1244C>T	1.37:g.175054550C>T	ENSP00000239462:p.Pro415Leu		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.P415L	ENST00000239462.4	37	c.1244	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883554	0.72410	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.69040	-0.37	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86863	0.6035	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.89151	0.3523	10	0.72032	D	0.01	.	19.5808	0.95467	0.0:1.0:0.0:0.0	.	415;415	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	415	ENSP00000239462:P415L	ENSP00000239462:P415L	P	+	2	0	TNN	173321173	1.000000	0.71417	0.959000	0.39883	0.176000	0.22953	6.539000	0.73856	2.706000	0.92434	0.655000	0.94253	CCG	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0.00	76	0	C	XM_040527		175054550	+1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	19.75	65	16	SNP	1.000	T
TNS1	7145	genome.wustl.edu	37	2	218679706	218679706	+	Missense_Mutation	SNP	G	G	A	rs374445594		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:218679706G>A	ENST00000171887.4	-	25	4798	c.4346C>T	c.(4345-4347)aCg>aTg	p.T1449M	TNS1_ENST00000419504.1_Missense_Mutation_p.T1436M|TNS1_ENST00000430930.1_Missense_Mutation_p.T1428M	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1449					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTAGCCCGCGTCTCCGGGCT	0.502																																																	0													63.0	57.0	59.0					2																	218679706		2203	4300	6503	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4346C>T	2.37:g.218679706G>A	ENSP00000171887:p.Thr1449Met		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.T1449M	ENST00000171887.4	37	c.4346	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840632	0.51057	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	5.36	0.76844	.	0.280338	0.39274	N	0.001403	T	0.74764	0.3759	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.973;0.997;0.924	T	0.75878	-0.3162	10	0.72032	D	0.01	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	1449;1428;1436	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	M	1449;587;1436;1428	ENSP00000171887:T1449M;ENSP00000394171:T587M;ENSP00000408724:T1436M;ENSP00000406016:T1428M	ENSP00000171887:T1449M	T	-	2	0	TNS1	218387951	0.997000	0.39634	0.960000	0.40013	0.914000	0.54420	2.473000	0.45145	2.797000	0.96272	0.563000	0.77884	ACG	TNS1	-	NULL	ENSG00000079308		0.502	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0.00	43	0	G	NM_022648		218679706	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.963	A
TP53	7157	genome.wustl.edu	37	17	7579497	7579498	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:7579497_7579498delGA	ENST00000269305.4	-	4	378_379	c.189_190delTC	c.(187-192)gctcccfs	p.P64fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P64fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P64fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P64fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P64fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.P64fs	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	64	Interaction with HRMT1L2.				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.G59fs*23(3)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)	GGCATTCTGGGAGCTTCATCTG	0.604		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	16	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)																																								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.189_190delTC	17.37:g.7579497_7579498delGA	ENSP00000269305:p.Pro64fs		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_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P64fs	ENST00000269305.4	37	c.190_189	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	50	0	GA	NM_000546		7579498	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	62.26	20	33	DEL	0.000:0.000	-
TPTE2P6	374491	genome.wustl.edu	37	13	25161430	25161430	+	RNA	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:25161430C>G	ENST00000453498.1	+	0	954				TPTE2P6_ENST00000440905.1_RNA																							GACGGATACTCTTTATAATAA	0.378																																																	0																																												0																															13.37:g.25161430C>G				RNA	SNP	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			TPTE2P6	-	-	ENSG00000205822		0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	TPTE2P6	HGNC	processed_transcript	OTTHUMT00000044193.1	-	0.00	150	0	C			25161430	+1	tier1	-	no_errors	ENST00000440905	ensembl	human	known	74_37	rna	34.51	92	49	SNP	0.002	G
TRIP12	9320	genome.wustl.edu	37	2	230693989	230693989	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:230693989C>G	ENST00000283943.5	-	7	1404	c.1226G>C	c.(1225-1227)aGg>aCg	p.R409T	TRIP12_ENST00000389045.3_Missense_Mutation_p.R112T|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.R457T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	409					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGGAAGACCCCTTGCCTCTAA	0.403																																																	0													69.0	69.0	69.0					2																	230693989		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1226G>C	2.37:g.230693989C>G	ENSP00000283943:p.Arg409Thr		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R409T	ENST00000283943.5	37	c.1226	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846052	0.91277	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.51325	0.75;1.08;0.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.54601	0.967;0.967;0.967;0.967	P;P;P;P	0.60789	0.879;0.879;0.879;0.879	T	0.71234	-0.4653	10	0.87932	D	0	.	19.5711	0.95419	0.0:1.0:0.0:0.0	.	415;112;457;409	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	T	409;112;457	ENSP00000283943:R409T;ENSP00000373697:R112T;ENSP00000373696:R457T	ENSP00000283943:R409T	R	-	2	0	TRIP12	230402233	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.304000	0.78882	2.637000	0.89404	0.557000	0.71058	AGG	TRIP12	-	NULL	ENSG00000153827		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0.00	13	0	C	NM_004238		230693989	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	G
TRMT12	55039	genome.wustl.edu	37	8	125463784	125463784	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:125463784A>G	ENST00000328599.3	+	1	737	c.616A>G	c.(616-618)Atc>Gtc	p.I206V	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	206					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATAATGGTATCCGTTATAA	0.512																																																	0													173.0	150.0	158.0					8																	125463784		2203	4300	6503	SO:0001583	missense	0			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.616A>G	8.37:g.125463784A>G	ENSP00000329858:p.Ile206Val		Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.I206V	ENST00000328599.3	37	c.616	CCDS6349.1	8	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222012	0.58560	.	.	ENSG00000183665	ENST00000328599	T	0.20598	2.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.35854	1.095	0.58432	D	0.999993	D	0.56521	0.976	D	0.65773	0.938	T	0.03240	-1.1057	10	0.49607	T	0.09	-14.1207	12.9369	0.58320	1.0:0.0:0.0:0.0	.	206	Q53H54	TYW2_HUMAN	V	206	ENSP00000329858:I206V	ENSP00000329858:I206V	I	+	1	0	TRMT12	125532965	1.000000	0.71417	0.940000	0.37924	0.597000	0.36814	8.420000	0.90256	2.092000	0.63282	0.459000	0.35465	ATC	TRMT12	-	pfam_tRNA_Trfase_Trm5/Tyw2	ENSG00000183665		0.512	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT12	HGNC	protein_coding	OTTHUMT00000381465.1	-	0.00	83	0	A	NM_017956		125463784	+1	tier1	-	no_errors	ENST00000328599	ensembl	human	known	74_37	missense	21.36	81	22	SNP	0.998	G
TRRAP	8295	genome.wustl.edu	37	7	98586521	98586521	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:98586521G>T	ENST00000359863.4	+	62	9744	c.9535G>T	c.(9535-9537)Gcc>Tcc	p.A3179S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3150S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3150S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3179	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGTGTCTGCCATCACCTG	0.562																																																	0													71.0	70.0	70.0					7																	98586521		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9535G>T	7.37:g.98586521G>T	ENSP00000352925:p.Ala3179Ser		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A3179S	ENST00000359863.4	37	c.9535	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120437	0.77323	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.75589	-0.95;-0.95	5.32	5.32	0.75619	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.92169	3.28	0.80722	D	1	P;P;P	0.45176	0.623;0.852;0.674	B;P;B	0.47162	0.225;0.54;0.407	D	0.88949	0.3385	10	0.72032	D	0.01	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	3150;2889;3179	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	S	3179;3150;3149	ENSP00000352925:A3179S;ENSP00000347733:A3150S	ENSP00000347733:A3150S	A	+	1	0	TRRAP	98424457	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.767000	0.85331	2.489000	0.83994	0.655000	0.94253	GCC	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000196367		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0.00	39	0	G	NM_003496		98586521	+1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T
TTC39A	22996	genome.wustl.edu	37	1	51754605	51754605	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:51754605G>T	ENST00000447632.2	-	17	1672	c.1624C>A	c.(1624-1626)Cac>Aac	p.H542N	TTC39A_ENST00000371750.5_Missense_Mutation_p.H507N|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000451380.1_Missense_Mutation_p.H506N|TTC39A_ENST00000530004.1_Missense_Mutation_p.H150N|TTC39A_ENST00000413473.2_Missense_Mutation_p.H510N|TTC39A_ENST00000262675.7_Missense_Mutation_p.H479N			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	542								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						ATCAAGTAGTGGTCATATTTA	0.493																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											51.0	52.0	51.0					1																	51754605		1899	4115	6014	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1624C>A	1.37:g.51754605G>T	ENSP00000393952:p.His542Asn		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.H542N	ENST00000447632.2	37	c.1624		1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943818	0.92593	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750	T;T;T;T;T;T	0.64618	-0.11;0.96;0.96;0.96;0.96;0.96	5.75	5.75	0.90469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.72118	2.19	0.80722	D	1	B;B;B;B;P	0.42375	0.307;0.204;0.33;0.204;0.778	B;B;B;B;B	0.42827	0.276;0.143;0.134;0.143;0.399	T	0.61564	-0.7037	10	0.12430	T	0.62	-27.5894	18.7237	0.91705	0.0:0.0:1.0:0.0	.	510;506;479;542;507	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	N	150;542;510;479;506;507	ENSP00000431228:H150N;ENSP00000393952:H542N;ENSP00000406144:H510N;ENSP00000262675:H479N;ENSP00000397207:H506N;ENSP00000360815:H507N	ENSP00000262675:H479N	H	-	1	0	TTC39A	51527193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.405000	0.97313	2.725000	0.93324	0.655000	0.94253	CAC	TTC39A	-	NULL	ENSG00000085831		0.493	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	-	0.00	61	0	G			51754605	-1	tier1	-	no_errors	ENST00000447632	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
TUBGCP5	114791	genome.wustl.edu	37	15	22855120	22855120	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:22855120G>T	ENST00000283645.4	+	13	1711	c.1581G>T	c.(1579-1581)atG>atT	p.M527I	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.M527I	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	527					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAGAAAAAATGAGTGATAACG	0.438																																																	0													83.0	78.0	80.0					15																	22855120		2203	4300	6503	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1581G>T	15.37:g.22855120G>T	ENSP00000283645:p.Met527Ile		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_TUBGCP	p.M527I	ENST00000283645.4	37	c.1581	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519491	0.44866	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.24723	1.84;1.84	4.88	4.88	0.63580	.	0.263210	0.43579	D	0.000553	T	0.24812	0.0602	L	0.36672	1.1	0.39912	D	0.974047	B;B;B	0.17268	0.008;0.008;0.021	B;B;B	0.21360	0.034;0.034;0.034	T	0.04333	-1.0959	10	0.38643	T	0.18	-7.9985	18.5854	0.91187	0.0:0.0:1.0:0.0	.	527;527;527	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	I	527	ENSP00000283645:M527I;ENSP00000409217:M527I	ENSP00000283645:M527I	M	+	3	0	TUBGCP5	20406561	1.000000	0.71417	0.738000	0.30950	0.996000	0.88848	3.679000	0.54634	2.686000	0.91538	0.655000	0.94253	ATG	TUBGCP5	-	pfam_TUBGCP	ENSG00000153575		0.438	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2		0.00	44	0	G	NM_052903		22855120	+1			no_errors	ENST00000283645	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
VSTM2A	222008	genome.wustl.edu	37	7	54617841	54617841	+	Silent	SNP	C	C	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:54617841C>A	ENST00000407838.3	+	4	1018	c.612C>A	c.(610-612)atC>atA	p.I204I	VSTM2A_ENST00000404951.1_Silent_p.I204I|VSTM2A_ENST00000302287.3_Silent_p.I204I|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Silent_p.I203I|VSTM2A_ENST00000402613.3_Silent_p.I204I	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	204						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TAGCCAAAATCCCCAAACAAA	0.517																																																	0													55.0	48.0	50.0					7																	54617841		2202	4299	6501	SO:0001819	synonymous_variant	0			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.612C>A	7.37:g.54617841C>A			A4D2E9|B5MC94	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.I203	ENST00000407838.3	37	c.609	CCDS5512.2	7																																																																																			VSTM2A	-	NULL	ENSG00000170419		0.517	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1		0.00	11	0	C	NM_182546		54617841	+1			no_errors	ENST00000402026	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.979	A
ZEB2	9839	genome.wustl.edu	37	2	145156713	145156713	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:145156713C>G	ENST00000558170.2	-	8	3225	c.2041G>C	c.(2041-2043)Gtg>Ctg	p.V681L	ZEB2_ENST00000539609.3_Missense_Mutation_p.V657L|ZEB2_ENST00000303660.4_Missense_Mutation_p.V681L|ZEB2_ENST00000409487.3_Missense_Mutation_p.V681L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	681					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAGGCCCACAGCAATGGAA	0.468																																					Melanoma(33;1235 1264 5755 16332)												0													109.0	116.0	113.0					2																	145156713		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2041G>C	2.37:g.145156713C>G	ENSP00000454157:p.Val681Leu		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.V681L	ENST00000558170.2	37	c.2041	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648473	0.67358	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.92545	-1.61;-1.61;-1.61;-3.06	5.51	5.51	0.81932	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95338	0.8487	L	0.61387	1.9	0.80722	D	1	P;D;D;D	0.58970	0.77;0.984;0.984;0.984	P;D;D;D	0.68192	0.514;0.956;0.956;0.956	D	0.94816	0.7983	10	0.49607	T	0.09	-10.4783	19.4178	0.94709	0.0:1.0:0.0:0.0	.	657;546;680;681	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	657;681;681;681	ENSP00000443792:V657L;ENSP00000302501:V681L;ENSP00000386854:V681L;ENSP00000395496:V681L	ENSP00000302501:V681L	V	-	1	0	ZEB2	144873183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.601000	0.87937	0.655000	0.94253	GTG	ZEB2	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000169554		0.468	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0.00	72	0	C	NM_014795		145156713	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	55.17	39	48	SNP	1.000	G
ZFP91	80829	genome.wustl.edu	37	11	58384886	58384886	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:58384886G>T	ENST00000316059.6	+	11	1591	c.1420G>T	c.(1420-1422)Gat>Tat	p.D474Y	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D474Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	474					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.D474H(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CACCAGCACAGATATCTTGGG	0.557																																																	2	Substitution - Missense(2)	large_intestine(2)											61.0	56.0	57.0					11																	58384886		2201	4295	6496	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1420G>T	11.37:g.58384886G>T	ENSP00000339030:p.Asp474Tyr		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D474Y	ENST00000316059.6	37	c.1420	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758248	0.69763	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12147	2.71	6.16	6.16	0.99307	.	0.384489	0.26324	N	0.025022	T	0.27384	0.0672	L	0.27053	0.805	0.49483	D	0.999791	D;D	0.71674	0.998;0.996	D;P	0.68039	0.955;0.903	T	0.00489	-1.1709	10	0.66056	D	0.02	-18.5381	19.6313	0.95704	0.0:0.0:1.0:0.0	.	474;474	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Y	474	ENSP00000339030:D474Y	ENSP00000374569:D474Y	D	+	1	0	ZFP91	58141462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	GAT	ZFP91	-	NULL	ENSG00000186660		0.557	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	-	0.00	35	0	G	NM_053023		58384886	+1	tier1	-	no_errors	ENST00000316059	ensembl	human	known	74_37	missense	76.47	8	26	SNP	1.000	T
ZNF571	51276	genome.wustl.edu	37	19	38056953	38056953	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:38056953G>A	ENST00000328550.2	-	4	476	c.377C>T	c.(376-378)tCt>tTt	p.S126F	ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S126F|ZNF571-AS1_ENST00000587121.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.S126F|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S126F			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAAAAGTAGAAGAGGTTGA	0.398																																																	0													117.0	113.0	115.0					19																	38056953		2203	4300	6503	SO:0001583	missense	0			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.377C>T	19.37:g.38056953G>A	ENSP00000333660:p.Ser126Phe		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S126F	ENST00000328550.2	37	c.377	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	G	2.033	-0.421941	0.04734	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.08458	3.09;3.09;3.09	3.5	-6.99	0.01605	.	.	.	.	.	T	0.01730	0.0055	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47328	-0.9126	9	0.27082	T	0.32	.	4.9819	0.14170	0.6325:0.113:0.1404:0.1141	.	126	Q7Z3V5	ZN571_HUMAN	F	126	ENSP00000333660:S126F;ENSP00000392638:S126F;ENSP00000351594:S126F	ENSP00000333660:S126F	S	-	2	0	ZNF571	42748793	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.147000	0.10234	-1.278000	0.02408	0.313000	0.20887	TCT	ZNF571	-	NULL	ENSG00000180479		0.398	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	-	0.00	62	0	G	NM_016536		38056953	-1	tier1	-	no_errors	ENST00000328550	ensembl	human	known	74_37	missense	68.00	24	51	SNP	0.000	A
ZNF525	170958	genome.wustl.edu	37	19	53888325	53888325	+	3'UTR	SNP	A	A	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:53888325A>G	ENST00000475179.1	+	0	359				ZNF525_ENST00000467003.1_3'UTR|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						ggtatataacattgatttgct	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000475179.1:c.*92A>G	19.37:g.53888325A>G			Q8TF23	RNA	SNP	-	NULL	ENST00000475179.1	37	NULL		19																																																																																			ZNF525	-	-	ENSG00000203326		0.323	ZNF525-003	PUTATIVE	basic|exp_conf	protein_coding	ZNF525	HGNC	protein_coding	OTTHUMT00000350553.1	-	0.00	37	0	A	NR_003699		53888325	+1	tier1	-	no_errors	ENST00000601790	ensembl	human	known	74_37	rna	33.33	24	12	SNP	0.580	G
ZNF579	163033	genome.wustl.edu	37	19	56090160	56090160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:56090160delG	ENST00000325421.4	-	2	874	c.846delC	c.(844-846)cccfs	p.P282fs	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		ACAGGGACCAGGGCCTGGCGA	0.721																																																	0													29.0	32.0	31.0					19																	56090160		2203	4298	6501	SO:0001589	frameshift_variant	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.846delC	19.37:g.56090160delG	ENSP00000320188:p.Pro282fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W283fs	ENST00000325421.4	37	c.846	CCDS12927.1	19																																																																																			ZNF579	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000218891		0.721	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0.00	13	0	G	NM_152600		56090160	-1	tier1		no_errors	ENST00000325421	ensembl	human	known	74_37	frame_shift_del	35.29	11	6	DEL	0.990	-
ZNF579	163033	genome.wustl.edu	37	19	56090162	56090163	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:56090162_56090163GC>AA	ENST00000325421.4	-	2	871_872	c.843_844GC>TT	c.(841-846)agGCcc>agTTcc	p.281_282RP>SS	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		AGGGACCAGGGCCTGGCGAAGG	0.718																																																	0																																										SO:0001583	missense	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.843_844delinsAA	19.37:g.56090162_56090163delinsAA	ENSP00000320188:p.R281_P282delinsSS			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P282S|p.R281S	ENST00000325421.4	37	c.844|c.843	CCDS12927.1	19																																																																																			ZNF579	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000218891		0.718	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0.00	12|13	0	G|C	NM_152600		56090162|56090163	-1			no_errors	ENST00000325421	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.996|0.993	A
ZNF804B	219578	genome.wustl.edu	37	7	88964139	88964139	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:88964139A>G	ENST00000333190.4	+	4	2452	c.1843A>G	c.(1843-1845)Aag>Gag	p.K615E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	615							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGGCTGCAGAAAGGCAGTTCT	0.388										HNSCC(36;0.09)																																							0													67.0	71.0	69.0					7																	88964139		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1843A>G	7.37:g.88964139A>G	ENSP00000329638:p.Lys615Glu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K615E	ENST00000333190.4	37	c.1843	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	2.484	-0.318957	0.05386	.	.	ENSG00000182348	ENST00000333190	T	0.05382	3.45	5.49	3.11	0.35812	.	0.400754	0.26262	N	0.025391	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.16722	0.016	T	0.41574	-0.9501	10	0.56958	D	0.05	-3.6909	5.4578	0.16600	0.5781:0.2796:0.1422:0.0	.	615	A4D1E1	Z804B_HUMAN	E	615	ENSP00000329638:K615E	ENSP00000329638:K615E	K	+	1	0	ZNF804B	88802075	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.566000	0.23593	0.508000	0.28173	0.533000	0.62120	AAG	ZNF804B	-	NULL	ENSG00000182348		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	28	0	A	NM_181646		88964139	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.000	G
ZNF775	285971	genome.wustl.edu	37	7	150093612	150093612	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:150093612G>T	ENST00000329630.5	+	3	150	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGGGCTGGTGATGAAGGT	0.607																																																	0													9.0	12.0	11.0					7																	150093612		1991	4164	6155	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.43G>T	7.37:g.150093612G>T	ENSP00000330838:p.Val15Leu		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V15L	ENST00000329630.5	37	c.43	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366650	0.24771	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.08193	3.98;3.12;3.31	3.88	2.99	0.34606	.	.	.	.	.	T	0.06142	0.0159	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.36504	-0.9745	9	0.23891	T	0.37	.	11.7413	0.51794	0.0:0.1803:0.8197:0.0	.	15	Q96BV0	ZN775_HUMAN	L	15	ENSP00000419336:V15L;ENSP00000330838:V15L;ENSP00000417483:V15L	ENSP00000330838:V15L	V	+	1	0	ZNF775	149724545	0.000000	0.05858	0.330000	0.25442	0.805000	0.45488	-1.411000	0.02478	1.217000	0.43442	0.561000	0.74099	GTG	ZNF775	-	NULL	ENSG00000196456		0.607	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	-	0.00	46	0	G	NM_173680		150093612	+1	tier1	-	no_errors	ENST00000329630	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.106	T
ZNRF1	84937	genome.wustl.edu	37	16	75140446	75140446	+	3'UTR	SNP	C	C	T			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:75140446C>T	ENST00000335325.4	+	0	1335				ZNRF1_ENST00000567962.1_3'UTR|ZNRF1_ENST00000320619.6_3'UTR|ZNRF1_ENST00000564320.1_3'UTR|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GACCTGCGGGCTTGCTTGCTG	0.607																																																	0													86.0	77.0	80.0					16																	75140446		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.*9C>T	16.37:g.75140446C>T			D3DUJ9|Q9H083	RNA	SNP	-	NULL	ENST00000335325.4	37	NULL	CCDS10912.1	16																																																																																			ZNRF1	-	-	ENSG00000186187		0.607	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF1	HGNC	protein_coding	OTTHUMT00000269020.2	-	0.00	39	0	C			75140446	+1	tier1	-	no_errors	ENST00000564320	ensembl	human	known	74_37	rna	20.55	58	15	SNP	0.929	T
