#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
ACOX1	51	genome.wustl.edu	37	17	73945584	73945584	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:73945584C>A	ENST00000301608.4	-	11	1636	c.1576G>T	c.(1576-1578)Gca>Tca	p.A526S	ACOX1_ENST00000293217.5_Missense_Mutation_p.A526S|ACOX1_ENST00000537812.1_Missense_Mutation_p.A488S	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	526					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ACCTCACTTGCTCGAACAAGG	0.423																																																	0													147.0	129.0	135.0					17																	73945584		2203	4300	6503	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1576G>T	17.37:g.73945584C>A	ENSP00000301608:p.Ala526Ser		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.A526S	ENST00000301608.4	37	c.1576	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.214807	0.95104	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.51325	0.71;0.71;0.71	5.48	5.48	0.80851	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.90650	3.135	0.80722	D	1	D;P;P;P	0.56287	0.975;0.889;0.887;0.749	D;P;P;P	0.64237	0.923;0.874;0.893;0.678	T	0.78952	-0.2001	10	0.62326	D	0.03	-17.2222	19.7503	0.96265	0.0:1.0:0.0:0.0	.	458;488;526;526	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	S	526;526;488;526;458	ENSP00000301608:A526S;ENSP00000293217:A526S;ENSP00000441257:A488S	ENSP00000293217:A526S	A	-	1	0	ACOX1	71457179	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	5.273000	0.65564	2.746000	0.94184	0.655000	0.94253	GCA	ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.423	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0.00	113	0	C			73945584	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	missense	18.42	93	21	SNP	1.000	A
ADCY2	108	genome.wustl.edu	37	5	7817053	7817053	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:7817053C>T	ENST00000338316.4	+	23	3047	c.2958C>T	c.(2956-2958)gcC>gcT	p.A986A	ADCY2_ENST00000537121.1_Silent_p.A806A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	986					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCTGGATGCCATCAACAAGC	0.498											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													211.0	161.0	178.0					5																	7817053		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2958C>T	5.37:g.7817053C>T		644	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A986	ENST00000338316.4	37	c.2958	CCDS3872.2	5																																																																																			ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.498	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0.00	102	0	C	NM_020546		7817053	+1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	silent	6.76	138	10	SNP	1.000	T
ADCY8	114	genome.wustl.edu	37	8	132052132	132052132	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:132052132G>T	ENST00000286355.5	-	1	2540	c.448C>A	c.(448-450)Cga>Aga	p.R150R	ADCY8_ENST00000377928.3_Silent_p.R150R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					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)			ATGACCCCTCGGTAGCTATAG	0.577										HNSCC(32;0.087)																																							0													33.0	32.0	32.0					8																	132052132		2203	4300	6503	SO:0001819	synonymous_variant	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.448C>A	8.37:g.132052132G>T				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R150	ENST00000286355.5	37	c.448	CCDS6363.1	8																																																																																			ADCY8	-	NULL	ENSG00000155897		0.577	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	114	0	G			132052132	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	silent	36.14	53	30	SNP	1.000	T
ADORA2A	135	genome.wustl.edu	37	22	24837050	24837050	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:24837050C>A	ENST00000337539.7	+	3	1291	c.832C>A	c.(832-834)Cac>Aac	p.H278N	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	278					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CGTCCTCTCCCACACCAATTC	0.582																																																	0													100.0	92.0	95.0					22																	24837050		2203	4300	6503	SO:0001583	missense	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.832C>A	22.37:g.24837050C>A	ENSP00000336630:p.His278Asn		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.H278N	ENST00000337539.7	37	c.832	CCDS13826.1	22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746530	0.89663	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.71934	-0.61;-0.61	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86331	0.5907	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88495	0.3078	10	0.62326	D	0.03	-43.225	17.5681	0.87926	0.0:1.0:0.0:0.0	.	278	P29274	AA2AR_HUMAN	N	278	ENSP00000414802:H278N;ENSP00000336630:H278N	ENSP00000336630:H278N	H	+	1	0	ADORA2A	23167050	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.590000	0.82653	2.385000	0.81259	0.462000	0.41574	CAC	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	ENSG00000128271		0.582	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2		0.00	30	0	C	NM_000675		24837050	+1			no_errors	ENST00000337539	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A
AEBP1	165	genome.wustl.edu	37	7	44152676	44152676	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:44152676C>T	ENST00000223357.3	+	19	2961	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.L461L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	886	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGAGAGTGAGCTGCCCCGCGA	0.597																																																	0													131.0	140.0	137.0					7																	44152676		2203	4300	6503	SO:0001819	synonymous_variant	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2656C>T	7.37:g.44152676C>T			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L886	ENST00000223357.3	37	c.2656	CCDS5476.1	7																																																																																			AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000106624		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0.00	39	0	C	NM_001129		44152676	+1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	T
AFG3L2	10939	genome.wustl.edu	37	18	12358764	12358764	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:12358764C>T	ENST00000269143.3	-	8	1162	c.931G>A	c.(931-933)Gct>Act	p.A311T		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	311					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCACAGCCAGCCACATCTTTG	0.468																																																	0													101.0	90.0	94.0					18																	12358764		2203	4300	6503	SO:0001583	missense	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.931G>A	18.37:g.12358764C>T	ENSP00000269143:p.Ala311Thr		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.A311T	ENST00000269143.3	37	c.931	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.657912	0.96734	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57907	0.37	5.76	5.76	0.90799	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91291	0.5059	10	0.87932	D	0	-1.7034	19.9664	0.97271	0.0:1.0:0.0:0.0	.	311	Q9Y4W6	AFG32_HUMAN	T	311;326	ENSP00000269143:A311T	ENSP00000269143:A311T	A	-	1	0	AFG3L2	12348764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.718000	0.92993	0.655000	0.94253	GCT	AFG3L2	-	superfamily_P-loop_NTPase,tigrfam_FtsH	ENSG00000141385		0.468	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0.00	53	0	C	NM_006796		12358764	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105418557	105418557	+	Silent	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:105418557A>G	ENST00000333244.5	-	7	3350	c.3231T>C	c.(3229-3231)ctT>ctC	p.L1077L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1077						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGTGCCCTTTAAGGCCAGCTC	0.617																																																	0													112.0	127.0	122.0					14																	105418557		1872	4111	5983	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3231T>C	14.37:g.105418557A>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1077	ENST00000333244.5	37	c.3231	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	117	0	A	NM_138420		105418557	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	16.39	102	20	SNP	0.000	G
AKAP9	10142	genome.wustl.edu	37	7	91646416	91646416	+	Splice_Site	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:91646416G>T	ENST00000359028.2	+	13	4098	c.3873G>T	c.(3871-3873)aaG>aaT	p.K1291N	AKAP9_ENST00000358100.2_Splice_Site_p.K1291N|AKAP9_ENST00000356239.3_Splice_Site_p.K1279N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1291					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GACTAAGCAAGGTCTGTGAGA	0.318			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													71.0	64.0	66.0					7																	91646416		2201	4292	6493	SO:0001630	splice_region_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3873+1G>T	7.37:g.91646416G>T			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.K1291N	ENST00000359028.2	37	c.3873		7	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328031	0.24080	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03441	3.94;3.94;3.93	4.25	2.42	0.29668	.	0.000000	0.39475	N	0.001357	T	0.10423	0.0255	M	0.67953	2.075	0.28226	N	0.92632	P;P;D;D	0.62365	0.895;0.879;0.991;0.99	B;B;P;P	0.58266	0.373;0.324;0.586;0.836	T	0.01626	-1.1309	10	0.72032	D	0.01	.	8.0348	0.30486	0.2047:0.0:0.7953:0.0	.	1291;1279;1279;1291	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	N	1279;1291;1291;1291;1291	ENSP00000348573:K1279N;ENSP00000351922:K1291N;ENSP00000350813:K1291N	ENSP00000348573:K1279N	K	+	3	2	AKAP9	91484352	0.997000	0.39634	0.993000	0.49108	0.367000	0.29736	0.769000	0.26604	1.135000	0.42183	0.655000	0.94253	AAG	AKAP9	-	NULL	ENSG00000127914		0.318	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0.00	52	0	G	NM_005751	Missense_Mutation	91646416	+1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.947	T
ALDH1A2	8854	genome.wustl.edu	37	15	58306478	58306478	+	Splice_Site	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:58306478A>T	ENST00000249750.4	-	2	886	c.119T>A	c.(118-120)aTc>aAc	p.I40N	ALDH1A2_ENST00000558231.1_Splice_Site_p.I11N|ALDH1A2_ENST00000537372.1_Splice_Site_p.I19N|ALDH1A2_ENST00000559517.1_5'Flank|ALDH1A2_ENST00000347587.3_Splice_Site_p.I40N	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	40					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GTTTATAAAGATCTAAGGGAG	0.453																																																	0													76.0	74.0	74.0					15																	58306478		2192	4292	6484	SO:0001630	splice_region_variant	0			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.118-1T>A	15.37:g.58306478A>T			B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I40N	ENST00000249750.4	37	c.119	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659626	0.88154	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.15487	2.42;2.42;2.42	4.45	4.45	0.53987	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.77557	0.978;0.99;0.978;0.978	T	0.05750	-1.0866	10	0.87932	D	0	.	13.8965	0.63775	1.0:0.0:0.0:0.0	.	11;19;40;40	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	N	40;11;40;19	ENSP00000249750:I40N;ENSP00000309623:I40N;ENSP00000438296:I19N	ENSP00000249750:I40N	I	-	2	0	ALDH1A2	56093770	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.761000	0.91691	1.874000	0.54306	0.533000	0.62120	ATC	ALDH1A2	-	superfamily_Ald_DH/histidinol_DH	ENSG00000128918		0.453	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1		0.00	51	0	A		Missense_Mutation	58306478	-1			no_errors	ENST00000249750	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T
AMOTL1	154810	genome.wustl.edu	37	11	94533184	94533184	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:94533184G>T	ENST00000433060.2	+	3	969	c.828G>T	c.(826-828)aaG>aaT	p.K276N	AMOTL1_ENST00000317837.9_Missense_Mutation_p.K276N|AMOTL1_ENST00000317829.8_Missense_Mutation_p.K226N	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	276					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATGGGGCCAAGCAACACCTTC	0.632																																																	0													47.0	52.0	50.0					11																	94533184		2009	4161	6170	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.828G>T	11.37:g.94533184G>T	ENSP00000387739:p.Lys276Asn		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.K276N	ENST00000433060.2	37	c.828	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050931	0.55218	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13901	2.55;2.55;2.55	5.13	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.38532	0.1044	M	0.81497	2.545	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	T	0.26950	-1.0088	9	.	.	.	-41.4742	13.4263	0.61028	0.0762:0.0:0.9238:0.0	.	226;276	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	N	226;282;276;276	ENSP00000320968:K226N;ENSP00000323474:K276N;ENSP00000387739:K276N	.	K	+	3	2	AMOTL1	94172832	1.000000	0.71417	0.814000	0.32528	0.785000	0.44390	2.532000	0.45659	1.168000	0.42723	0.555000	0.69702	AAG	AMOTL1	-	NULL	ENSG00000166025		0.632	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	-	0.00	88	0	G	NM_130847		94533184	+1	tier1	-	no_errors	ENST00000433060	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
ANKFY1	51479	genome.wustl.edu	37	17	4086708	4086708	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:4086708G>A	ENST00000341657.4	-	14	1972	c.1937C>T	c.(1936-1938)gCa>gTa	p.A646V	ANKFY1_ENST00000573722.1_5'Flank|Y_RNA_ENST00000516003.1_RNA|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A688V|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A646V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	646					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATTTATATCTGCCTGGTGCTC	0.517																																																	0													83.0	85.0	84.0					17																	4086708		2059	4211	6270	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1937C>T	17.37:g.4086708G>A	ENSP00000343362:p.Ala646Val		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.A688V	ENST00000341657.4	37	c.2063		17	.	.	.	.	.	.	.	.	.	.	G	35	5.560560	0.96527	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.60424	0.19	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.71296	2.17	0.80722	D	1	D;P;P;P	0.71674	0.998;0.928;0.911;0.948	D;P;P;P	0.80764	0.994;0.756;0.642;0.642	T	0.78061	-0.2351	10	0.66056	D	0.02	-9.7721	18.0864	0.89458	0.0:0.0:1.0:0.0	.	587;646;646;688	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	646;587	ENSP00000343362:A646V	ENSP00000343362:A646V	A	-	2	0	ANKFY1	4033457	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.543000	0.98089	2.503000	0.84419	0.655000	0.94253	GCA	ANKFY1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.517	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0.00	31	0	G	NM_016376		4086708	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
ANKRD13D	338692	genome.wustl.edu	37	11	67068775	67068775	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:67068775C>T	ENST00000447274.2	+	12	2168	c.993C>T	c.(991-993)ctC>ctT	p.L331L	SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000308440.6_Silent_p.L331L|ANKRD13D_ENST00000515828.1_Silent_p.L68L|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Silent_p.L418L|ANKRD13D_ENST00000514166.1_Silent_p.L331L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	331						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCACGTGCTCAATGCCCGCA	0.647																																																	0													108.0	97.0	101.0					11																	67068775		2200	4295	6495	SO:0001819	synonymous_variant	0			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.993C>T	11.37:g.67068775C>T			D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.L418	ENST00000447274.2	37	c.1254		11																																																																																			ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.647	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	-	0.00	67	0	C	NM_207354		67068775	+1	tier1	-	no_errors	ENST00000511455	ensembl	human	known	74_37	silent	16.07	47	9	SNP	1.000	T
ANTXRL	195977	genome.wustl.edu	37	10	47701302	47701302	+	Frame_Shift_Del	DEL	G	G	-	rs7091749	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:47701302delG	ENST00000447511.2	+	17	2143	c.1878delG	c.(1876-1878)ccgfs	p.P626fs	ANTXRL_ENST00000537271.1_Frame_Shift_Del_p.R553fs	NM_001278688.1	NP_001265617.1	A6NF34	ANTRL_HUMAN	anthrax toxin receptor-like	626						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)										CACTCCCCCCGTCAGAGCCCA	0.557																																																	0																																										SO:0001589	frameshift_variant	0				CCDS60524.1	10q11.22	2014-04-11			ENSG00000198250	ENSG00000274209			27277	protein-coding gene	gene with protein product							Standard	NM_001278688		Approved			A6NF34	OTTHUMG00000188318	ENST00000447511.2:c.1878delG	10.37:g.47701302delG	ENSP00000455449:p.Pro626fs		H3BPS2	Frame_Shift_Del	DEL	pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R553fs	ENST00000447511.2	37	c.1658		10																																																																																			ANTXRL	-	NULL	ENSG00000198250		0.557	ANTXRL-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	ANTXRL	HGNC	protein_coding	OTTHUMT00000047862.2		0.00	42	0	G	XM_113625		47701302	+1	tier1		no_errors	ENST00000537271	ensembl	human	known	74_37	frame_shift_del	9.38	29	3	DEL	0.000	-
AP1S1	1174	genome.wustl.edu	37	7	100799996	100799996	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:100799996G>A	ENST00000337619.5	+	2	243	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	42					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GTCCTGGCTCGAAAGCCCAAG	0.542																																																	0													43.0	48.0	46.0					7																	100799996		2034	4179	6213	SO:0001583	missense	0			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.125G>A	7.37:g.100799996G>A	ENSP00000336666:p.Arg42Gln		B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.R42Q	ENST00000337619.5	37	c.125	CCDS47669.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.677419|5.677419	0.96764|0.96764	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000429457|ENST00000337619	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Longin-like (1);AP complex, mu/sigma subunit (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91284|0.91284	0.7252|0.7252	H|H	0.99357|0.99357	4.53|4.53	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.94477|0.94477	0.7690|0.7690	5|9	.|0.87932	.|D	.|0	-0.3788|-0.3788	17.6324|17.6324	0.88113|0.88113	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|42	.|P61966	.|AP1S1_HUMAN	K|Q	84|42	.|.	.|ENSP00000336666:R42Q	E|R	+|+	1|2	0|0	AP1S1|AP1S1	100586716|100586716	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.191000|9.191000	0.94940|0.94940	2.767000|2.767000	0.95098|0.95098	0.561000|0.561000	0.74099|0.74099	GAA|CGA	AP1S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000106367		0.542	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S1	HGNC	protein_coding	OTTHUMT00000347439.1	-	0.00	40	0	G	NM_001283		100799996	+1	tier1	-	no_errors	ENST00000337619	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21230478	21230478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:21230478G>A	ENST00000233242.1	-	26	9389	c.9262C>T	c.(9262-9264)Caa>Taa	p.Q3088*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3088					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.Q3088K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACTTACTTGCCAACTTGCT	0.408																																																	1	Substitution - Missense(1)	ovary(1)											103.0	104.0	104.0					2																	21230478		2203	4300	6503	SO:0001587	stop_gained	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9262C>T	2.37:g.21230478G>A	ENSP00000233242:p.Gln3088*		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q3088*	ENST00000233242.1	37	c.9262	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	50	16.551330	0.99866	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	16.462	0.84059	0.0:0.1309:0.8691:0.0	.	.	.	.	X	3088	.	ENSP00000233242:Q3088X	Q	-	1	0	APOB	21083983	0.991000	0.36638	1.000000	0.80357	0.897000	0.52465	1.719000	0.38011	2.780000	0.95670	0.655000	0.94253	CAA	APOB	-	NULL	ENSG00000084674		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0.00	50	0	G			21230478	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.981	A
ARAP2	116984	genome.wustl.edu	37	4	36230983	36230983	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:36230983A>T	ENST00000303965.4	-	2	615	c.126T>A	c.(124-126)aaT>aaA	p.N42K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	42	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GCAGGCTGTCATTTATTGCTG	0.368																																																	0													67.0	69.0	68.0					4																	36230983		2203	4300	6503	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.126T>A	4.37:g.36230983A>T	ENSP00000302895:p.Asn42Lys		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.N42K	ENST00000303965.4	37	c.126	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504605	0.64410	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.45668	0.89;0.89	5.8	4.62	0.57501	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.267762	0.35870	N	0.002926	T	0.53174	0.1780	L	0.51914	1.62	0.37431	D	0.914029	D	0.63880	0.993	P	0.61070	0.883	T	0.60276	-0.7295	10	0.59425	D	0.04	.	11.563	0.50788	0.9307:0.0:0.0693:0.0	.	42	Q8WZ64	ARAP2_HUMAN	K	42	ENSP00000302895:N42K;ENSP00000422731:N42K	ENSP00000302895:N42K	N	-	3	2	ARAP2	35907378	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	1.357000	0.34090	1.037000	0.40024	0.529000	0.55759	AAT	ARAP2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000047365		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	56	0	A	NM_015230		36230983	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T
ARHGAP24	83478	genome.wustl.edu	37	4	86396648	86396648	+	5'UTR	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:86396648G>T	ENST00000395184.1	+	0	382				ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_5'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTTACTGCTGGTCCTGGGAGC	0.547																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.-85G>T	4.37:g.86396648G>T			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	RNA	SNP	-	NULL	ENST00000395184.1	37	NULL	CCDS34025.1	4																																																																																			ARHGAP24	-	-	ENSG00000138639		0.547	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0.00	42	0	G	NM_031305		86396648	+1	tier1	-	no_errors	ENST00000506421	ensembl	human	known	74_37	rna	14.29	24	4	SNP	0.000	T
ARMC5	79798	genome.wustl.edu	37	16	31473731	31473731	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:31473731G>T	ENST00000563544.1	+	4	1409	c.863G>T	c.(862-864)aGc>aTc	p.S288I	ARMC5_ENST00000268314.4_Missense_Mutation_p.S288I|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Missense_Mutation_p.S288I|ARMC5_ENST00000408912.3_Missense_Mutation_p.S383I|ARMC5_ENST00000538189.1_Missense_Mutation_p.S320I|ARMC5_ENST00000412665.2_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	288										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCACTCGTCAGCCTGGCTTCC	0.652																																																	0													31.0	36.0	34.0					16																	31473731		2083	4220	6303	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.863G>T	16.37:g.31473731G>T	ENSP00000456877:p.Ser288Ile		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.S383I	ENST00000563544.1	37	c.1148	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	g	15.02	2.707951	0.48412	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.51	3.55	0.40652	Armadillo-like helical (1);Armadillo-type fold (1);	0.500214	0.24254	N	0.040151	T	0.56572	0.1994	L	0.36672	1.1	0.80722	D	1	B;B;B;D	0.61080	0.16;0.16;0.16;0.989	B;B;B;P	0.55161	0.087;0.118;0.055;0.77	T	0.56353	-0.7993	10	0.46703	T	0.11	0.0113	9.5524	0.39317	0.1043:0.0:0.8957:0.0	.	320;383;288;288	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	I	383;320;288;288	ENSP00000386125:S383I;ENSP00000443995:S320I;ENSP00000268314:S288I;ENSP00000399561:S288I	ENSP00000268314:S288I	S	+	2	0	ARMC5	31381232	0.071000	0.21146	1.000000	0.80357	0.862000	0.49288	1.115000	0.31209	2.060000	0.61445	0.450000	0.29827	AGC	ARMC5	-	superfamily_ARM-type_fold	ENSG00000140691		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1		0.00	13	0	G	NM_024742		31473731	+1			no_errors	ENST00000408912	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T
ARPC5	10092	genome.wustl.edu	37	1	183596224	183596224	+	3'UTR	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:183596224C>T	ENST00000359856.6	-	0	965				ARPC5_ENST00000367534.1_Intron|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_3'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa						actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						ATGTTAATAGCTGCCAGTCTC	0.333																																					Melanoma(136;1596 1789 3041 4830 41075)												0																																										SO:0001624	3_prime_UTR_variant	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.*443G>A	1.37:g.183596224C>T			A6NEC4|Q6PG42	RNA	SNP	-	NULL	ENST00000359856.6	37	NULL	CCDS1357.1	1																																																																																			ARPC5	-	-	ENSG00000162704		0.333	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	-	0.00	68	0	C	NM_005717		183596224	-1	tier1	-	no_errors	ENST00000462965	ensembl	human	known	74_37	rna	5.41	70	4	SNP	1.000	T
ASIC5	51802	genome.wustl.edu	37	4	156760008	156760008	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:156760008T>A	ENST00000537611.2	-	7	1069	c.1023A>T	c.(1021-1023)gaA>gaT	p.E341D		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	341					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GTAGGTCACATTCTATCCCAT	0.284																																																	0													66.0	67.0	67.0					4																	156760008		2202	4295	6497	SO:0001583	missense	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1023A>T	4.37:g.156760008T>A	ENSP00000442477:p.Glu341Asp			Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.E341D	ENST00000537611.2	37	c.1023	CCDS3793.1	4	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304978	0.23736	.	.	ENSG00000256394	ENST00000537611	T	0.63417	-0.04	3.81	0.451	0.16629	.	0.000000	0.64402	D	0.000013	T	0.62392	0.2424	M	0.81802	2.56	0.31534	N	0.660832	P	0.42248	0.774	B	0.44044	0.439	T	0.64232	-0.6456	10	0.35671	T	0.21	-22.9503	8.5	0.33152	0.0:0.3848:0.0:0.6152	.	341	Q9NY37	ACCN5_HUMAN	D	341	ENSP00000442477:E341D	ENSP00000264432:E341D	E	-	3	2	ACCN5	156979458	0.998000	0.40836	0.988000	0.46212	0.030000	0.12068	0.201000	0.17276	-0.061000	0.13110	0.377000	0.23210	GAA	ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.284	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	-	0.00	73	0	T			156760008	-1	tier1	-	no_errors	ENST00000537611	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	A
ATRNL1	26033	genome.wustl.edu	37	10	117024684	117024684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:117024684delA	ENST00000355044.3	+	11	1828	c.1702delA	c.(1702-1704)aaafs	p.K568fs		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	568					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGATGAATGGAAAATACTACC	0.299																																																	0													91.0	95.0	94.0					10																	117024684		2203	4297	6500	SO:0001589	frameshift_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1702delA	10.37:g.117024684delA	ENSP00000347152:p.Lys568fs		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.I569fs	ENST00000355044.3	37	c.1702	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.299	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0.00	43	0	A	XM_049349		117024684	+1	tier1		no_errors	ENST00000355044	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	1.000	-
ATXN7	6314	genome.wustl.edu	37	3	63898360	63898361	+	In_Frame_Ins	INS	-	-	GCAGCA	rs576518931	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:63898360_63898361insGCAGCA	ENST00000295900.6	+	3	636_637	c.86_87insGCAGCA	c.(85-90)cggcag>cgGCAGCAgcag	p.38_39insQQ	ATXN7_ENST00000487717.1_In_Frame_Ins_p.38_39insQQ|ATXN7_ENST00000398590.3_In_Frame_Ins_p.38_39insQQ|ATXN7_ENST00000538065.1_In_Frame_Ins_p.38_39insQQ	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	38	Gln-rich.|Poly-Gln.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		gcggccgcccggcagcagcagc	0.797														107	0.0213658	0.0091	0.0231	5008	,	,		3374	0.004		0.0308	False		,,,				2504	0.045																0																																										SO:0001652	inframe_insertion	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.111_116dupGCAGCA	3.37:g.63898361_63898366dupGCAGCA	ENSP00000295900:p.Gln37_Gln38dup		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	In_Frame_Ins	INS	pfam_SCA7_dom	p.33in_frame_insQQ	ENST00000295900.6	37	c.86_87	CCDS43102.1	3																																																																																			ATXN7	-	NULL	ENSG00000163635		0.797	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1		0.00	8	0	0	NM_000333		63898361	+1			no_errors	ENST00000398590	ensembl	human	known	74_37	in_frame_ins	33.33	4	2	INS	1.000:1.000	GCAGCA
BCAN	63827	genome.wustl.edu	37	1	156618381	156618381	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:156618381C>A	ENST00000329117.5	+	6	1127	c.791C>A	c.(790-792)cCt>cAt	p.P264H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P264H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	264	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGGTGACCCTCCAGAGAAG	0.607																																																	0													73.0	74.0	74.0					1																	156618381		2203	4300	6503	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.791C>A	1.37:g.156618381C>A	ENSP00000331210:p.Pro264His		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom	p.P264H	ENST00000329117.5	37	c.791	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725443	0.48833	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.10573	2.86;2.86;2.86	4.65	4.65	0.58169	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.207171	0.33023	N	0.005372	T	0.14485	0.0350	L	0.33093	0.98	0.46564	D	0.999104	D;B	0.55385	0.971;0.306	D;P	0.64506	0.926;0.477	T	0.01894	-1.1252	10	0.72032	D	0.01	-10.5786	16.2643	0.82568	0.0:1.0:0.0:0.0	.	264;264	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	205;264;162;264	ENSP00000331210:P264H;ENSP00000401709:P162H;ENSP00000354925:P264H	ENSP00000255029:P205H	P	+	2	0	BCAN	154885005	0.003000	0.15002	0.978000	0.43139	0.268000	0.26511	2.062000	0.41413	2.415000	0.81967	0.555000	0.69702	CCT	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000132692		0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2		0.00	69	0	C	NM_021948		156618381	+1			no_errors	ENST00000329117	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.978	A
BCLAF1	9774	genome.wustl.edu	37	6	136596728	136596728	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:136596728G>A	ENST00000531224.1	-	6	2046	c.1794C>T	c.(1792-1794)agC>agT	p.S598S	BCLAF1_ENST00000527759.1_Silent_p.S596S|BCLAF1_ENST00000392348.2_Silent_p.S596S|BCLAF1_ENST00000353331.4_Silent_p.S596S|BCLAF1_ENST00000530767.1_Silent_p.S425S|BCLAF1_ENST00000527536.1_Silent_p.S598S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	598					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGTGCTTTTGCTGGCCTGTG	0.393																																					Colon(142;1534 1789 5427 7063 28491)												0													207.0	188.0	194.0					6																	136596728		2203	4300	6503	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1794C>T	6.37:g.136596728G>A			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S598	ENST00000531224.1	37	c.1794	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0.00	86	0	G	NM_014739		136596728	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	silent	15.09	44	8	SNP	1.000	A
BMP2	650	genome.wustl.edu	37	20	6750872	6750872	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:6750872C>T	ENST00000378827.4	+	2	1318	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	33					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GCAGGAAGTTCGCGGCGGCGT	0.687																																																	0													14.0	16.0	15.0					20																	6750872		2188	4286	6474	SO:0001819	synonymous_variant	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.99C>T	20.37:g.6750872C>T				Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.F33	ENST00000378827.4	37	c.99	CCDS13099.1	20																																																																																			BMP2	-	NULL	ENSG00000125845		0.687	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	HGNC	protein_coding	OTTHUMT00000077918.3	-	0.00	53	0	C			6750872	+1	tier1	-	no_errors	ENST00000378827	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	T
BMPR1B	658	genome.wustl.edu	37	4	96075789	96075789	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:96075789G>T	ENST00000515059.1	+	13	1757	c.1474G>T	c.(1474-1476)Gcc>Tcc	p.A492S	BMPR1B_ENST00000394931.1_Missense_Mutation_p.A492S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.A522S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.A492S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAAAACACTTGCCAAAATGTC	0.478																																																	0													66.0	69.0	68.0					4																	96075789		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1474G>T	4.37:g.96075789G>T	ENSP00000426617:p.Ala492Ser		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.A522S	ENST00000515059.1	37	c.1564	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515082	0.44763	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;T;D;D	0.81499	-1.5;-1.5;-1.5;-1.47;-1.5;-1.5	5.93	5.93	0.95920	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	N	0.13043	0.29	0.80722	D	1	B	0.24618	0.107	B	0.33846	0.171	T	0.64334	-0.6432	10	0.02654	T	1	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	492	O00238	BMR1B_HUMAN	S	492;492;492;522;492;492	ENSP00000426617:A492S;ENSP00000425444:A492S;ENSP00000421671:A492S;ENSP00000401907:A522S;ENSP00000264568:A492S;ENSP00000378389:A492S	ENSP00000264568:A492S	A	+	1	0	BMPR1B	96294812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.814000	0.96858	0.591000	0.81541	GCC	BMPR1B	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000138696		0.478	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3		0.00	52	0	G	NM_001203		96075789	+1			no_errors	ENST00000440890	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
BRDT	676	genome.wustl.edu	37	1	92470125	92470125	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:92470125A>T	ENST00000362005.3	+	18	2961	c.2543A>T	c.(2542-2544)aAg>aTg	p.K848M	BRDT_ENST00000394530.3_Missense_Mutation_p.K802M|BRDT_ENST00000402388.1_Missense_Mutation_p.K848M|BRDT_ENST00000370389.2_Missense_Mutation_p.K775M|BRDT_ENST00000399546.2_Missense_Mutation_p.K848M	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	848					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTCATACGGAAGCATTTGGAA	0.378																																																	0													80.0	86.0	84.0					1																	92470125		2202	4300	6502	SO:0001583	missense	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2543A>T	1.37:g.92470125A>T	ENSP00000354568:p.Lys848Met		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K848M	ENST00000362005.3	37	c.2543	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.624083	0.46840	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.16;3.11	5.49	4.37	0.52481	.	0.000000	0.53938	D	0.000044	T	0.12774	0.0310	M	0.69823	2.125	0.37494	D	0.916506	D;D;D;D	0.76494	0.999;0.999;0.995;0.999	D;D;P;D	0.64595	0.927;0.927;0.887;0.927	T	0.01172	-1.1429	10	0.72032	D	0.01	-24.6011	5.4696	0.16662	0.7577:0.0:0.2423:0.0	.	802;802;852;848	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	M	848;775;848;802;848	ENSP00000354568:K848M;ENSP00000359416:K775M;ENSP00000387822:K848M;ENSP00000378038:K802M;ENSP00000384051:K848M	ENSP00000354568:K848M	K	+	2	0	BRDT	92242713	0.874000	0.30092	0.992000	0.48379	0.914000	0.54420	0.942000	0.29017	2.084000	0.62774	0.397000	0.26171	AAG	BRDT	-	NULL	ENSG00000137948		0.378	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2		0.00	66	0	A	NM_207189		92470125	+1			no_errors	ENST00000362005	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.997	T
C11orf63	79864	genome.wustl.edu	37	11	122774866	122774866	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:122774866G>T	ENST00000531316.1	+	2	670	c.578G>T	c.(577-579)aGt>aTt	p.S193I	C11orf63_ENST00000227349.2_Missense_Mutation_p.S193I|C11orf63_ENST00000307257.6_Missense_Mutation_p.S193I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	193					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTACTTGGTAGTGAATTTTTA	0.532																																																	0													70.0	73.0	72.0					11																	122774866		2202	4299	6501	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.578G>T	11.37:g.122774866G>T	ENSP00000431669:p.Ser193Ile		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.S193I	ENST00000531316.1	37	c.578	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756384	0.69648	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.55588	0.51;0.51	5.83	5.83	0.93111	.	0.075445	0.56097	D	0.000023	T	0.70509	0.3232	M	0.72118	2.19	0.32401	N	0.551886	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.77621	-0.2519	10	0.72032	D	0.01	-16.9156	13.492	0.61402	0.0:0.1682:0.8318:0.0	.	193;193	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	I	193	ENSP00000227349:S193I;ENSP00000431669:S193I	ENSP00000227349:S193I	S	+	2	0	C11orf63	122280076	1.000000	0.71417	0.967000	0.41034	0.712000	0.41017	3.758000	0.55220	2.753000	0.94483	0.655000	0.94253	AGT	C11orf63	-	NULL	ENSG00000109944		0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0.00	28	0	G	NM_024806		122774866	+1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	40.00	8	6	SNP	0.995	T
C19orf18	147685	genome.wustl.edu	37	19	58472872	58472872	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:58472872T>C	ENST00000314391.3	-	5	520	c.419A>G	c.(418-420)aAg>aGg	p.K140R		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	140						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K140R(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CCTGAGGTTCTTATAAAGTGA	0.438																																																	1	Substitution - Missense(1)	pancreas(1)											144.0	129.0	134.0					19																	58472872		2203	4300	6503	SO:0001583	missense	0			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.419A>G	19.37:g.58472872T>C	ENSP00000321519:p.Lys140Arg			Missense_Mutation	SNP	NULL	p.K140R	ENST00000314391.3	37	c.419	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293276	0.23564	.	.	ENSG00000177025	ENST00000314391	T	0.59083	0.29	4.14	2.05	0.26809	.	0.648102	0.13359	N	0.393805	T	0.39809	0.1092	N	0.24115	0.695	0.18873	N	0.999988	B	0.20550	0.046	B	0.23716	0.048	T	0.27157	-1.0082	10	0.40728	T	0.16	-3.1869	5.8605	0.18745	0.0:0.2139:0.0:0.7861	.	140	Q8NEA5	CS018_HUMAN	R	140	ENSP00000321519:K140R	ENSP00000321519:K140R	K	-	2	0	C19orf18	63164684	0.946000	0.32159	0.546000	0.28166	0.002000	0.02628	1.495000	0.35627	0.387000	0.25024	-0.464000	0.05259	AAG	C19orf18	-	NULL	ENSG00000177025		0.438	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1		0.00	23	0	T	NM_152474		58472872	-1			no_errors	ENST00000314391	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.690	C
CACHD1	57685	genome.wustl.edu	37	1	65143953	65143953	+	Silent	SNP	G	G	A	rs368444781	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:65143953G>A	ENST00000371073.2	+	23	3204	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.V1017V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1068					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGGATTGTGGGAGCCAAAA	0.473													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17250	0.0		0.0	False		,,,				2504	0.0																0								G		4,4402	8.1+/-20.4	0,4,2199	94.0	96.0	96.0		3051	2.2	1.0	1		96	0,8600		0,0,4300	no	coding-synonymous	CACHD1	NM_020925.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		1017/1224	65143953	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3204G>A	1.37:g.65143953G>A			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.V1068	ENST00000371073.2	37	c.3204		1																																																																																			CACHD1	-	NULL	ENSG00000158966		0.473	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		-	0.00	103	0	G	NM_020925		65143953	+1	tier1	-	no_errors	ENST00000371073	ensembl	human	known	74_37	silent	37.82	74	45	SNP	0.987	A
CACNA1A	773	genome.wustl.edu	37	19	13368366	13368366	+	Splice_Site	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:13368366C>A	ENST00000360228.5	-	28	4388		c.e28-1		CACNA1A_ENST00000573710.2_Splice_Site	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit						adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGAGGACCCTGCaaggaat	0.592																																																	0													31.0	29.0	30.0					19																	13368366		1931	4132	6063	SO:0001630	splice_region_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4389-1G>T	19.37:g.13368366C>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Splice_Site	SNP	-	e28-1	ENST00000360228.5	37	c.4389-1	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436273	0.25813	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	.	.	.	5.13	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8263	0.63352	0.1548:0.8452:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1A	13229366	1.000000	0.71417	0.990000	0.47175	0.032000	0.12392	7.757000	0.85209	1.137000	0.42214	-0.311000	0.09066	.	CACNA1A	-	-	ENSG00000141837		0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0.00	26	0	C	NM_000068	Intron	13368366	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	splice_site	6.45	29	2	SNP	1.000	A
CATSPER3	347732	genome.wustl.edu	37	5	134303709	134303709	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:134303709T>C	ENST00000282611.6	+	1	114	c.28T>C	c.(28-30)Tcg>Ccg	p.S10P	CATSPER3_ENST00000511235.1_3'UTR|PCBD2_ENST00000512783.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	10					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGCGCCACTCGAGAGTCAT	0.383																																																	0													113.0	111.0	112.0					5																	134303709		2203	4300	6503	SO:0001583	missense	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.28T>C	5.37:g.134303709T>C	ENSP00000282611:p.Ser10Pro		Q86XS6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.S10P	ENST00000282611.6	37	c.28	CCDS4181.1	5	.	.	.	.	.	.	.	.	.	.	T	7.065	0.567198	0.13560	.	.	ENSG00000152705	ENST00000282611	D	0.97089	-4.24	3.94	-7.88	0.01178	.	3.335980	0.00875	N	0.002079	D	0.89983	0.6873	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.23018	0.043	D	0.86178	0.1604	10	0.39692	T	0.17	6.7344	4.495	0.11833	0.1422:0.1927:0.514:0.1511	.	10	Q86XQ3	CTSR3_HUMAN	P	10	ENSP00000282611:S10P	ENSP00000282611:S10P	S	+	1	0	CATSPER3	134331608	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.170000	0.00573	-2.029000	0.00930	-0.320000	0.08662	TCG	CATSPER3	-	NULL	ENSG00000152705		0.383	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	-	0.00	49	0	T	NM_178019		134303709	+1	tier1	-	no_errors	ENST00000282611	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	C
CCDC180	100499483	genome.wustl.edu	37	9	100124578	100124578	+	Intron	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:100124578G>T	ENST00000357054.1	+	39	4692				CCDC180_ENST00000375202.2_Missense_Mutation_p.G1297W|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.G1297W|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000395220.1_Intron			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGTGAGGCAGGGGCTGGTGG	0.602																																																	0													118.0	114.0	115.0					9																	100124578		2203	4300	6503	SO:0001627	intron_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3757+45G>T	9.37:g.100124578G>T			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.G1297W	ENST00000357054.1	37	c.3889		9	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330170	0.41297	.	.	ENSG00000197816	ENST00000375202;ENST00000529487	T;T	0.08634	3.07;3.07	4.02	1.21	0.21127	.	3.023640	0.00979	N	0.003359	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.49421	0.61	T	0.20472	-1.0274	10	0.66056	D	0.02	17.3859	5.8181	0.18512	0.3343:0.0:0.6657:0.0	.	1436	B7ZMG3	.	W	1297	ENSP00000364348:G1297W;ENSP00000434727:G1297W	ENSP00000364348:G1297W	G	+	1	0	C9orf174	99164399	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.104000	0.15313	0.273000	0.22049	0.655000	0.94253	GGG	CCDC180	-	NULL	ENSG00000197816		0.602	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0.00	68	0	G	NM_020893		100124578	+1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.001	T
CCRN4L	25819	genome.wustl.edu	37	4	139966564	139966564	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:139966564C>A	ENST00000280614.2	+	3	1425	c.1232C>A	c.(1231-1233)cCt>cAt	p.P411H	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	411					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TTCAATTATCCTTCAGACCAC	0.398																																					Ovarian(144;566 1842 19130 21379 22209)												0													87.0	85.0	86.0					4																	139966564		2203	4300	6503	SO:0001583	missense	0			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1232C>A	4.37:g.139966564C>A	ENSP00000280614:p.Pro411His		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.P411H	ENST00000280614.2	37	c.1232	CCDS3743.1	4	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992254	0.74703	.	.	ENSG00000151014	ENST00000280614	T	0.33216	1.42	5.39	5.39	0.77823	Endonuclease/exonuclease/phosphatase (2);	0.053260	0.85682	D	0.000000	T	0.67021	0.2849	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75499	-0.3296	9	.	.	.	-14.6687	19.1467	0.93472	0.0:1.0:0.0:0.0	.	411	Q9UK39	NOCT_HUMAN	H	411	ENSP00000280614:P411H	.	P	+	2	0	CCRN4L	140186014	1.000000	0.71417	0.986000	0.45419	0.634000	0.38068	7.749000	0.85096	2.540000	0.85666	0.585000	0.79938	CCT	CCRN4L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000151014		0.398	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	-	0.00	93	0	C	NM_012118		139966564	+1	tier1	-	no_errors	ENST00000280614	ensembl	human	known	74_37	missense	9.09	49	5	SNP	1.000	A
CDK16	5127	genome.wustl.edu	37	X	47088143	47088143	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:47088143C>G	ENST00000357227.4	+	16	1891	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L	CDK16_ENST00000457458.2_Missense_Mutation_p.F495L|CDK16_ENST00000276052.6_Missense_Mutation_p.F563L|CDK16_ENST00000518022.1_Missense_Mutation_p.F489L	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	489					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GGCCAGCTTTCCGCGTGGTGG	0.632																																																	0													99.0	66.0	77.0					X																	47088143		2203	4300	6503	SO:0001583	missense	0				CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.1467C>G	X.37:g.47088143C>G	ENSP00000349762:p.Phe489Leu		A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	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_Prot_kinase_dom	p.F563L	ENST00000357227.4	37	c.1689	CCDS14276.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.16|14.16	2.453312|2.453312	0.43531|0.43531	.|.	.|.	ENSG00000102225|ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000518022;ENST00000276052;ENST00000523344|ENST00000520141	T;T;T;T;T|.	0.74632|.	-0.41;-0.4;-0.4;-0.45;-0.86|.	6.04|6.04	4.28|4.28	0.50868|0.50868	.|.	0.407398|.	0.27735|.	N|.	0.018063|.	T|T	0.44767|0.44767	0.1309|0.1309	L|L	0.29908|0.29908	0.895|0.895	0.36435|0.36435	D|D	0.865168|0.865168	B;B;B|.	0.14438|.	0.001;0.001;0.01|.	B;B;B|.	0.14023|.	0.001;0.002;0.01|.	T|T	0.45687|0.45687	-0.9244|-0.9244	10|5	0.25106|.	T|.	0.35|.	-12.7795|-12.7795	9.568|9.568	0.39411|0.39411	0.0:0.8316:0.0:0.1684|0.0:0.8316:0.0:0.1684	.|.	563;594;489|.	B7Z7C8;B7Z8T0;Q00536|.	.;.;CDK16_HUMAN|.	L|C	495;489;594;441;489;563;253|84	ENSP00000405798:F495L;ENSP00000349762:F489L;ENSP00000429751:F489L;ENSP00000276052:F563L;ENSP00000428349:F253L|.	ENSP00000276052:F563L|.	F|S	+|+	3|2	2|0	CDK16|CDK16	46973087|46973087	0.957000|0.957000	0.32711|0.32711	0.978000|0.978000	0.43139|0.43139	0.994000|0.994000	0.84299|0.84299	0.045000|0.045000	0.14013|0.14013	0.672000|0.672000	0.31204|0.31204	0.513000|0.513000	0.50165|0.50165	TTC|TCC	CDK16	-	NULL	ENSG00000102225		0.632	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK16	HGNC	protein_coding	OTTHUMT00000056406.2	-	0.00	15	0	C	NM_006201		47088143	+1	tier1	-	no_errors	ENST00000276052	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	G
CDKL1	8814	genome.wustl.edu	37	14	50829684	50829684	+	5'UTR	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:50829684G>T	ENST00000356146.1	-	0	1697				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					cacgctttgggtccgcactgc	0.527																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-1285C>A	14.37:g.50829684G>T			Q2M3A4|Q6QUA0|Q8WXQ5	RNA	SNP	-	NULL	ENST00000356146.1	37	NULL		14																																																																																			CDKL1	-	-	ENSG00000100490		0.527	CDKL1-002	KNOWN	basic	processed_transcript	CDKL1	HGNC	protein_coding	OTTHUMT00000276873.2	-	0.00	38	0	G			50829684	-1	tier1	-	no_errors	ENST00000356146	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.010	T
HSPA14	51182	genome.wustl.edu	37	10	14879874	14879874	+	5'Flank	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:14879874C>T	ENST00000378372.3	+	0	0				CDNF_ENST00000378442.1_Intron|HSPA14_ENST00000437161.2_5'Flank|CDNF_ENST00000378441.2_5'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CCTGGCCCTGCGTCAGCACCG	0.701																																																	0													12.0	17.0	16.0					10																	14879874		2189	4289	6478	SO:0001631	upstream_gene_variant	0			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712		10.37:g.14879874C>T	Exception_encountered		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	pfam_Armet_prot	p.T24	ENST00000378372.3	37	c.72	CCDS7103.1	10																																																																																			CDNF	-	NULL	ENSG00000185267		0.701	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDNF	HGNC	protein_coding	OTTHUMT00000046910.1		0.00	48	0	C	NM_016299		14879874	-1			no_errors	ENST00000465530	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.000	T
APRT	353	genome.wustl.edu	37	16	88873597	88873597	+	IGR	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:88873597G>T	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.D421Y	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GGTGTCCCAGGATCTGCTGGA	0.701																																																	0													18.0	23.0	21.0					16																	88873597		2193	4297	6490	SO:0001628	intergenic_variant	0				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873597G>T			G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.D421Y	ENST00000378364.3	37	c.1261	CCDS32511.1	16	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751684	0.69533	.	.	ENSG00000167513	ENST00000301019	T	0.78364	-1.17	5.35	2.17	0.27698	.	0.528675	0.20059	N	0.100135	T	0.75273	0.3827	L	0.56769	1.78	0.29380	N	0.863414	D	0.53151	0.958	P	0.47044	0.535	T	0.71718	-0.4508	10	0.72032	D	0.01	-1.918	9.02	0.36193	0.0726:0.0:0.3804:0.5471	.	421	Q9H211	CDT1_HUMAN	Y	421	ENSP00000301019:D421Y	ENSP00000301019:D421Y	D	+	1	0	CDT1	87401098	0.979000	0.34478	0.997000	0.53966	0.976000	0.68499	1.814000	0.38972	0.561000	0.29186	0.561000	0.74099	GAT	CDT1	-	NULL	ENSG00000167513		0.701	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000430000.2	-	0.00	59	0	G	NM_000485		88873597	+1	tier1	-	no_errors	ENST00000301019	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.948	T
CELSR1	9620	genome.wustl.edu	37	22	46787669	46787669	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:46787669G>A	ENST00000262738.3	-	15	6008	c.6009C>T	c.(6007-6009)tgC>tgT	p.C2003C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2003	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGAAGCAGTCGCAGGGCAGAC	0.647																																																	0													29.0	38.0	35.0					22																	46787669		2202	4300	6502	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6009C>T	22.37:g.46787669G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C2003	ENST00000262738.3	37	c.6009	CCDS14076.1	22																																																																																			CELSR1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000075275		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0.00	124	0	G	NM_014246		46787669	-1			no_errors	ENST00000262738	ensembl	human	known	74_37	silent	6.45	87	6	SNP	0.843	A
CEP152	22995	genome.wustl.edu	37	15	49083553	49083553	+	Missense_Mutation	SNP	G	G	T	rs368723147		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:49083553G>T	ENST00000380950.2	-	8	1040	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	CEP152_ENST00000399334.3_Missense_Mutation_p.L285I|CEP152_ENST00000325747.5_Missense_Mutation_p.L192I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	285					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L285V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CGAAGGCTGAGAGTCAAACCA	0.383																																																	1	Substitution - Missense(1)	breast(1)											118.0	100.0	105.0					15																	49083553		1818	4072	5890	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.853C>A	15.37:g.49083553G>T	ENSP00000370337:p.Leu285Ile		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L285I	ENST00000380950.2	37	c.853	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914368	0.33815	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.81996	-1.56;-1.56;-1.56	5.56	4.63	0.57726	.	0.346229	0.30850	N	0.008748	T	0.79907	0.4527	L	0.48877	1.53	0.30003	N	0.815844	D;P;D	0.55800	0.972;0.513;0.973	P;B;P	0.50405	0.592;0.103;0.64	T	0.72843	-0.4170	10	0.10111	T	0.7	-2.2694	10.4713	0.44638	0.0:0.129:0.604:0.2669	.	192;285;285	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	285;192;285;285	ENSP00000370337:L285I;ENSP00000321000:L192I;ENSP00000382271:L285I	ENSP00000321000:L192I	L	-	1	0	CEP152	46870845	0.999000	0.42202	0.998000	0.56505	0.877000	0.50540	0.868000	0.27982	1.303000	0.44873	0.655000	0.94253	CTC	CEP152	-	NULL	ENSG00000103995		0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1		0.00	67	0	G	NM_014985		49083553	-1			no_errors	ENST00000380950	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.914	T
CEP55	55165	genome.wustl.edu	37	10	95263009	95263009	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:95263009C>T	ENST00000371485.3	+	3	627	c.323C>T	c.(322-324)aCg>aTg	p.T108M		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	108					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGAGACAACGAGAGAAGGA	0.443																																																	0													170.0	151.0	158.0					10																	95263009		2203	4300	6503	SO:0001583	missense	0			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.323C>T	10.37:g.95263009C>T	ENSP00000360540:p.Thr108Met		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	pfam_EABR	p.T108M	ENST00000371485.3	37	c.323	CCDS7428.1	10	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551955	0.27739	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.19938	2.11	5.36	3.51	0.40186	.	0.357028	0.32287	N	0.006302	T	0.20700	0.0498	L	0.50333	1.59	0.28802	N	0.898731	D	0.56287	0.975	B	0.43809	0.432	T	0.07102	-1.0790	10	0.45353	T	0.12	-14.9887	9.8313	0.40944	0.0:0.7867:0.1386:0.0747	.	108	Q53EZ4	CEP55_HUMAN	M	108	ENSP00000360540:T108M	ENSP00000351102:T108M	T	+	2	0	CEP55	95252999	0.650000	0.27331	0.715000	0.30552	0.000000	0.00434	0.955000	0.29188	0.749000	0.32854	-0.796000	0.03273	ACG	CEP55	-	NULL	ENSG00000138180		0.443	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1		0.00	70	0	C	NM_018131		95263009	+1			no_errors	ENST00000371485	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.875	T
CHIAP2	149620	genome.wustl.edu	37	1	111827633	111827633	+	RNA	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:111827633G>T	ENST00000369743.4	+	0	1732					NR_003928.1				chitinase, acidic pseudogene 2																		CAACTTTGGAGGTGCCATGGT	0.488																																																	0																																												0					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111827633G>T				RNA	SNP	-	NULL	ENST00000369743.4	37	NULL		1																																																																																			CHIAP2	-	-	ENSG00000203878		0.488	CHIAP2-001	KNOWN	basic	processed_transcript	CHIAP2	HGNC	pseudogene	OTTHUMT00000033667.3	-	0.00	79	0	G			111827633	+1	tier1	-	no_errors	ENST00000369743	ensembl	human	known	74_37	rna	7.02	53	4	SNP	1.000	T
CHPF2	54480	genome.wustl.edu	37	7	150935231	150935231	+	Missense_Mutation	SNP	G	G	A	rs375779152		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:150935231G>A	ENST00000035307.2	+	4	3296	c.1783G>A	c.(1783-1785)Gtg>Atg	p.V595M	CHPF2_ENST00000495645.1_Missense_Mutation_p.V587M|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	595					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						CCTTACCACCGTGTGGACAAG	0.597																																																	0													58.0	52.0	54.0					7																	150935231		2203	4300	6503	SO:0001583	missense	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.1783G>A	7.37:g.150935231G>A	ENSP00000035307:p.Val595Met		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.V595M	ENST00000035307.2	37	c.1783	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579687	0.65992	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.19669	2.13;2.13	4.71	4.71	0.59529	.	0.063395	0.64402	D	0.000007	T	0.45617	0.1351	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.922	T	0.43718	-0.9374	10	0.62326	D	0.03	-21.2239	16.8572	0.86009	0.0:0.0:1.0:0.0	.	595;587	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	M	587;595;595	ENSP00000418914:V587M;ENSP00000035307:V595M	ENSP00000035307:V595M	V	+	1	0	CHPF2	150566164	1.000000	0.71417	0.993000	0.49108	0.657000	0.38888	7.709000	0.84645	2.440000	0.82611	0.585000	0.79938	GTG	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.597	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0.00	52	0	G	NM_019015		150935231	+1			no_errors	ENST00000035307	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A
CMC1	152100	genome.wustl.edu	37	3	28361202	28361202	+	3'UTR	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:28361202A>G	ENST00000466830.1	+	0	602				CMC1_ENST00000469102.1_3'UTR|AZI2_ENST00000295748.3_5'Flank|CMC1_ENST00000423894.1_3'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						TCAAGCATATATGTTTGCTTT	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.*82A>G	3.37:g.28361202A>G			Q68DJ7	RNA	SNP	-	NULL	ENST00000466830.1	37	NULL	CCDS33722.1	3																																																																																			CMC1	-	-	ENSG00000187118		0.294	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CMC1	HGNC	protein_coding	OTTHUMT00000341087.1	-	0.00	23	0	A	NM_182523		28361202	+1	tier1	-	no_errors	ENST00000467644	ensembl	human	known	74_37	rna	37.04	17	10	SNP	0.000	G
COG5	10466	genome.wustl.edu	37	7	106888850	106888850	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:106888850T>C	ENST00000347053.3	-	16	1924	c.1874A>G	c.(1873-1875)gAc>gGc	p.D625G	COG5_ENST00000297135.3_Missense_Mutation_p.D646G|COG5_ENST00000393603.2_Missense_Mutation_p.D646G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	625					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCCAGAAAAGTCTTCTTGATG	0.408																																																	0													116.0	112.0	113.0					7																	106888850		2203	4300	6503	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1874A>G	7.37:g.106888850T>C	ENSP00000334703:p.Asp625Gly		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_Cog5	p.D646G	ENST00000347053.3	37	c.1937	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608348	0.87258	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.58060	0.36;0.36;0.36	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.975;0.989	T	0.67522	-0.5649	10	0.59425	D	0.04	-18.7183	15.8762	0.79166	0.0:0.0:0.0:1.0	.	625;646	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	625;646;646	ENSP00000334703:D625G;ENSP00000297135:D646G;ENSP00000377228:D646G	ENSP00000297135:D646G	D	-	2	0	COG5	106676086	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.760000	0.74939	2.231000	0.72958	0.460000	0.39030	GAC	COG5	-	NULL	ENSG00000164597		0.408	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	-	0.00	96	0	T			106888850	-1	tier1	-	no_errors	ENST00000297135	ensembl	human	known	74_37	missense	13.08	92	14	SNP	1.000	C
COL9A1	1297	genome.wustl.edu	37	6	70926288	70926288	+	3'UTR	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:70926288T>C	ENST00000357250.6	-	0	3236				COL9A1_ENST00000320755.7_3'UTR|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370499.4_3'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GACACATAGGTATAGCACACT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.*312A>G	6.37:g.70926288T>C			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	RNA	SNP	-	NULL	ENST00000357250.6	37	NULL	CCDS4971.1	6																																																																																			COL9A1	-	-	ENSG00000112280		0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	-	0.00	74	0	T			70926288	-1	tier1	-	no_errors	ENST00000486080	ensembl	human	known	74_37	rna	14.04	49	8	SNP	0.020	C
CPS1	1373	genome.wustl.edu	37	2	211421465	211421465	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:211421465G>A	ENST00000233072.5	+	1	204	c.8G>A	c.(7-9)aGg>aAg	p.R3K	CPS1_ENST00000430249.2_Missense_Mutation_p.R9K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	3					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAATGACGAGGATTTTGACA	0.338																																																	0													77.0	79.0	79.0					2																	211421465		2203	4298	6501	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.8G>A	2.37:g.211421465G>A	ENSP00000233072:p.Arg3Lys		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.R9K	ENST00000233072.5	37	c.26	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839694	0.32513	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000544169;ENST00000536125	D;D;D;D;D	0.97575	-3.12;-3.12;-3.31;-4.44;-4.44	5.78	5.78	0.91487	.	0.045063	0.85682	D	0.000000	D	0.92557	0.7636	N	0.12182	0.205	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	D	0.88290	0.2942	10	0.30854	T	0.27	2.5512	16.7312	0.85435	0.0:0.0:1.0:0.0	.	13;3	Q59HF8;P31327	.;CPSM_HUMAN	K	3;3;9;9;11;3;3;3	ENSP00000388496:R3K;ENSP00000430697:R3K;ENSP00000430644:R9K;ENSP00000402608:R9K;ENSP00000233072:R3K	ENSP00000233072:R3K	R	+	2	0	CPS1	211129710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.446000	0.66600	2.706000	0.92434	0.655000	0.94253	AGG	CPS1	-	NULL	ENSG00000021826		0.338	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0.00	92	0	G			211421465	+1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	28.79	47	19	SNP	1.000	A
CPT1B	1375	genome.wustl.edu	37	22	51010669	51010669	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:51010669G>A	ENST00000360719.2	-	12	1558	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CPT1B_ENST00000405237.3_Missense_Mutation_p.A474V|CPT1B_ENST00000434492.2_Missense_Mutation_p.A271V|CPT1B_ENST00000312108.7_Missense_Mutation_p.A474V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.A440V|CPT1B_ENST00000395650.2_Missense_Mutation_p.A474V|CPT1B_ENST00000440709.1_Missense_Mutation_p.A393V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	474					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATCTGCCCACGCATGCTCTGC	0.532																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													80.0	73.0	75.0					22																	51010669		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1421C>T	22.37:g.51010669G>A	ENSP00000353945:p.Ala474Val		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A474V	ENST00000360719.2	37	c.1421	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919279	0.73098	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.90385	-2.66;-2.66;-2.66;-1.49;-2.66;-1.49;-2.66	5.65	5.65	0.86999	.	0.234953	0.44688	D	0.000438	D	0.92476	0.7611	M	0.79258	2.445	0.44234	D	0.997077	D;P;P;P	0.53885	0.963;0.7;0.916;0.916	P;B;B;B	0.47673	0.554;0.39;0.39;0.39	D	0.93438	0.6791	10	0.87932	D	0	-11.775	17.2199	0.86954	0.0:0.0:1.0:0.0	.	393;440;271;474	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	474;474;474;440;393;271;474	ENSP00000385486:A474V;ENSP00000312189:A474V;ENSP00000353945:A474V;ENSP00000409342:A440V;ENSP00000414713:A393V;ENSP00000410966:A271V;ENSP00000379011:A474V	ENSP00000312189:A474V	A	-	2	0	CPT1B	49357535	1.000000	0.71417	0.920000	0.36463	0.404000	0.30871	7.493000	0.81493	2.667000	0.90743	0.561000	0.74099	GCG	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.532	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0.00	40	0	G	NM_152246		51010669	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.994	A
CSAG4	100130935	genome.wustl.edu	37	X	151896131	151896131	+	RNA	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:151896131C>T	ENST00000361201.4	-	0	599					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						GAATTACTGGCTGCCCAAAGA	0.502																																																	0																																												0			BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896131C>T				RNA	SNP	-	NULL	ENST00000361201.4	37	NULL		X																																																																																			CSAG4	-	-	ENSG00000242599		0.502	CSAG4-001	KNOWN	basic	processed_transcript	CSAG4	HGNC	pseudogene	OTTHUMT00000058758.2	-	0.00	100	0	C			151896131	-1	tier1	-	no_errors	ENST00000361201	ensembl	human	known	74_37	rna	5.92	142	9	SNP	0.000	T
CTNNA3	29119	genome.wustl.edu	37	10	68280473	68280473	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:68280473G>T	ENST00000433211.2	-	11	1607	c.1433C>A	c.(1432-1434)aCc>aAc	p.T478N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T478N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T478N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATTTCCATGGTGTTTTTGAC	0.388																																																	2	Substitution - Missense(2)	lung(2)											188.0	160.0	170.0					10																	68280473		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1433C>A	10.37:g.68280473G>T	ENSP00000389714:p.Thr478Asn			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T478N	ENST00000433211.2	37	c.1433	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	2.922	-0.223013	0.06061	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.25579	1.79;1.79	5.43	3.22	0.36961	.	0.216990	0.32068	N	0.006637	T	0.03915	0.0110	N	0.00053	-2.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.42766	-0.9432	10	0.02654	T	1	-11.0579	12.1047	0.53805	0.0:0.0:0.6436:0.3564	.	478;478	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	N	478	ENSP00000389714:T478N;ENSP00000362849:T478N	ENSP00000362849:T478N	T	-	2	0	CTNNA3	67950479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.168000	0.50801	1.371000	0.46172	0.650000	0.86243	ACC	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0.00	47	0	G	NM_013266		68280473	-1			no_errors	ENST00000373744	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
CTSS	1520	genome.wustl.edu	37	1	150727558	150727558	+	Silent	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:150727558T>C	ENST00000368985.3	-	4	578	c.318A>G	c.(316-318)acA>acG	p.T106T	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	106					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGACTTATATGTGATATTTC	0.413																																																	0													203.0	195.0	198.0					1																	150727558		2203	4300	6503	SO:0001819	synonymous_variant	0			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.318A>G	1.37:g.150727558T>C			B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.T106	ENST00000368985.3	37	c.318	CCDS968.1	1																																																																																			CTSS	-	NULL	ENSG00000163131		0.413	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1		0.00	46	0	T	NM_004079		150727558	-1			no_errors	ENST00000368985	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.406	C
CXXC1	30827	genome.wustl.edu	37	18	47812290	47812290	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:47812290C>G	ENST00000285106.6	-	5	1182	c.468G>C	c.(466-468)caG>caC	p.Q156H	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.Q156H|CXXC1_ENST00000412036.2_Missense_Mutation_p.Q156H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.Q156H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						gctgctgctgctggtgatgct	0.557																																																	1	Substitution - Missense(1)	lung(1)											43.0	39.0	40.0					18																	47812290		2203	4300	6503	SO:0001583	missense	0			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.468G>C	18.37:g.47812290C>G	ENSP00000285106:p.Gln156His		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q156H	ENST00000285106.6	37	c.468	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352385	0.11182	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24151	1.88;1.87	2.57	-0.917	0.10485	.	0.739778	0.10861	U	0.626054	T	0.08758	0.0217	N	0.14661	0.345	0.27196	N	0.960293	P;B;B;B;B	0.43094	0.799;0.438;0.42;0.296;0.191	B;B;B;B;B	0.24006	0.05;0.02;0.031;0.014;0.014	T	0.22800	-1.0206	10	0.40728	T	0.16	-0.5462	4.5447	0.12074	0.0:0.4012:0.4494:0.1494	.	156;156;156;156;23	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;.;CXXC1_HUMAN;.	H	156	ENSP00000285106:Q156H;ENSP00000390475:Q156H	ENSP00000285106:Q156H	Q	-	3	2	CXXC1	46066288	0.955000	0.32602	0.993000	0.49108	0.749000	0.42624	-0.083000	0.11286	0.025000	0.15241	0.542000	0.68232	CAG	CXXC1	-	NULL	ENSG00000154832		0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2		0.00	55	0	C	NM_014593		47812290	-1			no_errors	ENST00000412036	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.976	G
CXorf22	170063	genome.wustl.edu	37	X	35974234	35974234	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:35974234C>A	ENST00000297866.5	+	8	1397	c.1331C>A	c.(1330-1332)cCt>cAt	p.P444H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	444										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAATTACTTCCTGTGACGTAC	0.363																																																	0													65.0	60.0	62.0					X																	35974234		2202	4300	6502	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1331C>A	X.37:g.35974234C>A	ENSP00000297866:p.Pro444His		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.P444H	ENST00000297866.5	37	c.1331	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377412	0.42105	.	.	ENSG00000165164	ENST00000297866	T	0.61980	0.06	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.78049	2.395	0.40397	D	0.979609	D	0.89917	1.0	D	0.97110	1.0	T	0.83293	-0.0032	10	0.72032	D	0.01	-19.5088	16.9801	0.86325	0.0:1.0:0.0:0.0	.	444	Q6ZTR5	CX022_HUMAN	H	444	ENSP00000297866:P444H	ENSP00000297866:P444H	P	+	2	0	CXorf22	35884155	1.000000	0.71417	0.941000	0.38009	0.015000	0.08874	5.481000	0.66826	2.305000	0.77605	0.600000	0.82982	CCT	CXorf22	-	NULL	ENSG00000165164		0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2		0.00	75	0	C	NM_152632		35974234	+1			no_errors	ENST00000297866	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
DDX17	10521	genome.wustl.edu	37	22	38884008	38884008	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:38884008G>T	ENST00000396821.3	-	12	1659	c.1560C>A	c.(1558-1560)acC>acA	p.T520T	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000432525.1_5'Flank|DDX17_ENST00000381633.3_Silent_p.T443T	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	520	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGGTGAAGAAGGTATAGGCGG	0.488																																					Ovarian(55;1085 1454 6392 21425)												0													188.0	165.0	173.0					22																	38884008		2203	4300	6503	SO:0001819	synonymous_variant	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1560C>A	22.37:g.38884008G>T			B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T520	ENST00000396821.3	37	c.1560	CCDS46706.1	22																																																																																			DDX17	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000100201		0.488	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	-	0.00	36	0	G	NM_030881		38884008	-1	tier1	-	no_errors	ENST00000396821	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T
DKK4	27121	genome.wustl.edu	37	8	42232393	42232393	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:42232393C>T	ENST00000220812.2	-	3	487	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	101					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGCTGCCTTTCTAATATTGGG	0.448																																																	0													216.0	198.0	204.0					8																	42232393		2203	4300	6503	SO:0001583	missense	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.301G>A	8.37:g.42232393C>T	ENSP00000220812:p.Glu101Lys		Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.E101K	ENST00000220812.2	37	c.301	CCDS6130.1	8	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005650	0.35415	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.30182	1.54	5.17	5.17	0.71159	.	0.581392	0.16243	N	0.223073	T	0.27559	0.0677	L	0.29908	0.895	0.35170	D	0.771502	P	0.46784	0.884	P	0.46419	0.516	T	0.06752	-1.0809	10	0.10636	T	0.68	-7.3604	14.5151	0.67814	0.0:1.0:0.0:0.0	.	101	Q9UBT3	DKK4_HUMAN	K	101	ENSP00000220812:E101K	ENSP00000220812:E101K	E	-	1	0	DKK4	42351550	0.842000	0.29525	0.186000	0.23195	0.003000	0.03518	3.992000	0.56980	2.556000	0.86216	0.555000	0.69702	GAA	DKK4	-	NULL	ENSG00000104371		0.448	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1	-	0.00	76	0	C			42232393	-1	tier1	-	no_errors	ENST00000220812	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.865	T
DMTF1	9988	genome.wustl.edu	37	7	86795900	86795901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:86795900_86795901insT	ENST00000394703.5	+	6	774_775	c.211_212insT	c.(211-213)atafs	p.I71fs	DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.I71fs|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000394702.3_Frame_Shift_Ins_p.I71fs|DMTF1_ENST00000413276.2_Frame_Shift_Ins_p.I71fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	71	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TACTCCTTGCATATCAGTTGTT	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.212dupT	7.37:g.86795901_86795901dupT	ENSP00000378193:p.Ile71fs		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S72fs	ENST00000394703.5	37	c.211_212	CCDS5601.1	7																																																																																			DMTF1	-	NULL	ENSG00000135164		0.391	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0.00	123	0	-	NM_021145		86795901	+1	tier1		no_errors	ENST00000331242	ensembl	human	known	74_37	frame_shift_ins	23.39	95	29	INS	1.000:1.000	T
DMTF1	9988	genome.wustl.edu	37	7	86823243	86823243	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:86823243A>G	ENST00000394703.5	+	18	2416	c.1853A>G	c.(1852-1854)cAc>cGc	p.H618R	DMTF1_ENST00000432937.2_Missense_Mutation_p.H530R|DMTF1_ENST00000331242.7_Missense_Mutation_p.H618R|DMTF1_ENST00000414194.2_Missense_Mutation_p.H352R|DMTF1_ENST00000413276.2_Missense_Mutation_p.H548R|TMEM243_ENST00000481425.1_5'Flank	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	618	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H618R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAAATTCATCACCCTAAGATG	0.423																																																	1	Substitution - Missense(1)	endometrium(1)											106.0	99.0	101.0					7																	86823243		2203	4300	6503	SO:0001583	missense	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1853A>G	7.37:g.86823243A>G	ENSP00000378193:p.His618Arg		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H618R	ENST00000394703.5	37	c.1853	CCDS5601.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.702|9.702	1.154750|1.154750	0.21371|0.21371	.|.	.|.	ENSG00000135164|ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194|ENST00000454008	T;T;T;T;T|.	0.39592|.	1.09;1.07;1.09;1.09;1.08|.	6.03|6.03	2.44|2.44	0.29823|0.29823	.|.	0.454008|.	0.23220|.	N|.	0.050570|.	T|T	0.11110|0.11110	0.0271|0.0271	N|N	0.03608|0.03608	-0.345|-0.345	0.24173|0.24173	N|N	0.995613|0.995613	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29366|0.29366	-1.0014|-1.0014	10|5	0.05620|.	T|.	0.96|.	0.2151|0.2151	4.7441|4.7441	0.13029|0.13029	0.6001:0.1518:0.2481:0.0|0.6001:0.1518:0.2481:0.0	.|.	618|.	Q9Y222|.	DMTF1_HUMAN|.	R|A	618;548;530;618;352|86	ENSP00000332171:H618R;ENSP00000402627:H548R;ENSP00000412532:H530R;ENSP00000378193:H618R;ENSP00000415910:H352R|.	ENSP00000332171:H618R|.	H|T	+|+	2|1	0|0	DMTF1|DMTF1	86661179|86661179	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.980000|0.980000	0.70556|0.70556	1.189000|1.189000	0.32114|0.32114	0.514000|0.514000	0.28300|0.28300	0.533000|0.533000	0.62120|0.62120	CAC|ACC	DMTF1	-	NULL	ENSG00000135164		0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0.00	34	0	A	NM_021145		86823243	+1			no_errors	ENST00000331242	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.984	G
DNAH7	56171	genome.wustl.edu	37	2	196746602	196746602	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:196746602C>G	ENST00000312428.6	-	36	5978	c.5878G>C	c.(5878-5880)Gca>Cca	p.A1960P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1960	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCATTAATGCAGAGTATCGA	0.378																																																	0													175.0	160.0	164.0					2																	196746602		1850	4089	5939	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5878G>C	2.37:g.196746602C>G	ENSP00000311273:p.Ala1960Pro		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.A1960P	ENST00000312428.6	37	c.5878	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173237	0.38413	.	.	ENSG00000118997	ENST00000312428	T	0.35789	1.29	5.24	2.28	0.28536	.	0.399455	0.26122	N	0.026208	T	0.43590	0.1254	M	0.80982	2.52	0.09310	N	1	P	0.41265	0.744	P	0.46850	0.529	T	0.38308	-0.9667	10	0.72032	D	0.01	.	5.0706	0.14604	0.1824:0.5597:0.0:0.2579	.	1960	Q8WXX0	DYH7_HUMAN	P	1960	ENSP00000311273:A1960P	ENSP00000311273:A1960P	A	-	1	0	DNAH7	196454847	0.000000	0.05858	0.375000	0.26029	0.936000	0.57629	0.169000	0.16641	0.789000	0.33779	-0.224000	0.12420	GCA	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	93	0	C	NM_018897		196746602	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	23.68	58	18	SNP	0.002	G
DCDC1	341019	genome.wustl.edu	37	11	31392319	31392319	+	5'Flank	DEL	A	A	-	rs191061102	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:31392319delA	ENST00000452803.1	-	0	0				DNAJC24_ENST00000536040.1_Frame_Shift_Del_p.P7fs|DNAJC24_ENST00000527601.1_3'UTR|DNAJC24_ENST00000465995.1_Frame_Shift_Del_p.P8fs	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCAGATGCCAAAAAAGGATT	0.383																																																	0													72.0	69.0	70.0					11																	31392319		1855	4088	5943	SO:0001631	upstream_gene_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144		11.37:g.31392319delA	Exception_encountered		A6PVL6|B7WNX6|Q6ZU04	Frame_Shift_Del	DEL	pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K10fs	ENST00000452803.1	37	c.24	CCDS7872.1	11																																																																																			DNAJC24	-	superfamily_DnaJ_domain,smart_DnaJ_domain	ENSG00000170946		0.383	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC24	HGNC	protein_coding	OTTHUMT00000316531.1		0.00	50	0	A	NM_181807		31392319	+1	tier1		no_errors	ENST00000465995	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.000	-
DNMT1	1786	genome.wustl.edu	37	19	10265092	10265092	+	Silent	SNP	C	C	A	rs202058239		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:10265092C>A	ENST00000340748.4	-	21	2083	c.1848G>T	c.(1846-1848)acG>acT	p.T616T	DNMT1_ENST00000359526.4_Silent_p.T632T|DNMT1_ENST00000540357.1_Silent_p.T616T			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	616					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T616T(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGGTGGCTTTCGTGGGTCCCC	0.552																																																	1	Substitution - coding silent(1)	prostate(1)											165.0	167.0	166.0					19																	10265092		2203	4300	6503	SO:0001819	synonymous_variant	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1848G>T	19.37:g.10265092C>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.T632	ENST00000340748.4	37	c.1896	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk	ENSG00000130816		0.552	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	-	0.00	46	0	C	NM_001379		10265092	-1	tier1	-	no_errors	ENST00000359526	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.161	A
DOC2B	8447	genome.wustl.edu	37	17	11314	11314	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:11314C>T	ENST00000343572.7	-	5	813	c.657G>A	c.(655-657)gaG>gaA	p.E219E	DOC2B_ENST00000609727.1_5'Flank	NM_003585.3	NP_003576	Q14184	DOC2B_HUMAN	double C2-like domains, beta	219	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion (GO:0032024)|positive regulation of vesicle fusion (GO:0031340)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			endometrium(2)|ovary(1)	3						GGAATTTGTCCTCGTCACACA	0.602																																																	0													181.0	169.0	173.0					17																	11314		692	1591	2283	SO:0001819	synonymous_variant	0			D70830	CCDS73934.1	17p13.3	2014-07-16			ENSG00000272636	ENSG00000272636		"""Synaptotagmins"""	2986	protein-coding gene	gene with protein product		604568	"""double C2-like domains, beta-like"""	DOC2BL		7826360	Standard	NM_003585		Approved		uc010vpx.1	Q14184	OTTHUMG00000154415	ENST00000343572.7:c.657G>A	17.37:g.11314C>T				Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.E219	ENST00000343572.7	37	c.657		17																																																																																			DOC2B	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	ENSG00000272636		0.602	DOC2B-001	KNOWN	basic|appris_principal	protein_coding	DOC2B	HGNC	protein_coding	OTTHUMT00000335122.3		0.00	96	0	C	NM_003585		11314	-1			no_errors	ENST00000343572	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56342211	56342211	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:56342211T>C	ENST00000361203.3	-	86	20654	c.20647A>G	c.(20647-20649)Atc>Gtc	p.I6883V	DST_ENST00000370769.4_Missense_Mutation_p.I6994V|DST_ENST00000370754.5_Missense_Mutation_p.I7172V|DST_ENST00000446842.2_Missense_Mutation_p.I6668V|DST_ENST00000421834.2_Missense_Mutation_p.I4906V|DST_ENST00000244364.6_Missense_Mutation_p.I4580V|DST_ENST00000370788.2_Missense_Mutation_p.I4797V|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6884					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGTGGCAGATAGCCAAAACG	0.453																																																	0													190.0	199.0	196.0					6																	56342211		1948	4157	6105	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20647A>G	6.37:g.56342211T>C	ENSP00000354508:p.Ile6883Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I7172V	ENST00000361203.3	37	c.21514		6	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921875	0.33908	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.58	-1.57	0.08506	.	0.256160	0.27139	N	0.020746	T	0.14743	0.0356	N	0.08118	0	0.24783	N	0.992805	P;B;B;B;B	0.46277	0.875;0.035;0.017;0.001;0.0	P;B;B;B;B	0.48815	0.591;0.074;0.02;0.004;0.006	T	0.16041	-1.0416	9	0.28530	T	0.3	.	9.8118	0.40828	0.0:0.0642:0.4794:0.4564	.	4906;6994;7172;6992;4580	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	4580;7172;6994;4906;6668;4797;6883	ENSP00000244364:I4580V;ENSP00000359790:I7172V;ENSP00000359805:I6994V;ENSP00000400883:I4906V;ENSP00000393645:I6668V;ENSP00000359824:I4797V;ENSP00000354508:I6883V	ENSP00000244364:I4580V	I	-	1	0	DST	56450170	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	2.825000	0.48096	-0.387000	0.07809	-0.438000	0.05819	ATC	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	85	0	T	NM_001723		56342211	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	12.90	81	12	SNP	0.997	C
ELTD1	64123	genome.wustl.edu	37	1	79387315	79387315	+	Missense_Mutation	SNP	A	A	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:79387315A>C	ENST00000370742.3	-	9	1303	c.1240T>G	c.(1240-1242)Tcc>Gcc	p.S414A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	414	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S414A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGACCAGAGGACATCAAAATT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											149.0	140.0	143.0					1																	79387315		1951	4143	6094	SO:0001583	missense	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1240T>G	1.37:g.79387315A>C	ENSP00000359778:p.Ser414Ala		B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S414A	ENST00000370742.3	37	c.1240	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	A	6.769	0.510696	0.12883	.	.	ENSG00000162618	ENST00000370742	T	0.36520	1.25	5.32	5.32	0.75619	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	N	0.03304	-0.355	0.52099	D	0.999947	B	0.29988	0.264	B	0.36885	0.235	T	0.21075	-1.0256	9	.	.	.	.	15.5771	0.76400	1.0:0.0:0.0:0.0	.	414	Q9HBW9	ELTD1_HUMAN	A	414	ENSP00000359778:S414A	.	S	-	1	0	ELTD1	79159903	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	5.750000	0.68712	2.130000	0.65690	0.477000	0.44152	TCC	ELTD1	-	smart_GPS_dom,pfscan_GPS_dom	ENSG00000162618		0.388	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1		0.00	45	0	A	NM_022159		79387315	-1			no_errors	ENST00000370742	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	C
ENG	2022	genome.wustl.edu	37	9	130578326	130578326	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:130578326G>T	ENST00000373203.4	-	14	2148	c.1748C>A	c.(1747-1749)aCa>aAa	p.T583K	ENG_ENST00000480266.1_5'Flank|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Missense_Mutation_p.T583K|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	583					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCCTTTGCTTGTGCAACCTAG	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																								0													79.0	60.0	66.0					9																	130578326		2201	4300	6501	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1748C>A	9.37:g.130578326G>T	ENSP00000362299:p.Thr583Lys		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	pfam_ZP_dom	p.T583K	ENST00000373203.4	37	c.1748	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480468	0.26598	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.43294	0.95;1.54	3.85	2.91	0.33838	.	2.043350	0.02268	N	0.068198	T	0.25827	0.0629	N	0.08118	0	0.26221	N	0.979154	B;B	0.33694	0.421;0.421	B;B	0.26969	0.075;0.075	T	0.28618	-1.0038	10	0.52906	T	0.07	7.5719	8.7278	0.34480	0.1186:0.0:0.8814:0.0	.	583;583	Q5T9B9;P17813	.;EGLN_HUMAN	K	583;583;583;401	ENSP00000362299:T583K;ENSP00000341917:T583K	ENSP00000341917:T583K	T	-	2	0	ENG	129618147	0.990000	0.36364	0.336000	0.25522	0.879000	0.50718	2.173000	0.42472	0.873000	0.35799	0.462000	0.41574	ACA	ENG	-	NULL	ENSG00000106991		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1		0.00	64	0	G			130578326	-1			no_errors	ENST00000373203	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.895	T
DOCK1	1793	genome.wustl.edu	37	10	128609392	128609392	+	Intron	DEL	G	G	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:128609392delG	ENST00000280333.6	+	1	155				Y_RNA_ENST00000365617.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		tccgagtgcagtggtgtttac	0.458																																																	0																																										SO:0001627	intron_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.46+15260G>-	10.37:g.128609392delG			A9Z1Z5	RNA	DEL	-	NULL	ENST00000280333.6	37	NULL		10																																																																																			Y_RNA	-	-	ENSG00000202487		0.458	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000202487	RFAM	protein_coding	OTTHUMT00000050979.2		0.00	14	0	G	NM_001380		128609392	+1	tier1		no_errors	ENST00000365617	ensembl	human	novel	74_37	rna	33.33	4	2	DEL	0.081	-
NR2F2-AS1	644192	genome.wustl.edu	37	15	96831313	96831313	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:96831313G>A	ENST00000378936.1	-	1	347	c.348C>T	c.(346-348)ccC>ccT	p.P116P	NR2F2-AS1_ENST00000558929.1_RNA|NR2F2-AS1_ENST00000560800.1_RNA|NR2F2-AS1_ENST00000560170.1_RNA|NR2F2-AS1_ENST00000558935.1_RNA|NR2F2-AS1_ENST00000502125.2_RNA|NR2F2-AS1_ENST00000560010.1_RNA|NR2F2-AS1_ENST00000561344.1_RNA|NR2F2-AS1_ENST00000557863.1_RNA																							tgtccgtcctgggctccaggg	0.433																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000378936.1:c.348C>T	15.37:g.96831313G>A				Silent	SNP	NULL	p.P116	ENST00000378936.1	37	c.348		15																																																																																			AC016251.1	-	NULL	ENSG00000205148		0.433	AC016251.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000205148	Clone_based_ensembl_gene	protein_coding		-	0.00	59	0	G			96831313	-1	tier1	-	no_errors	ENST00000378936	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.994	A
AL445258.1	0	genome.wustl.edu	37	X	145072422	145072422	+	RNA	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:145072422T>A	ENST00000401213.1	-	0	33				hsa-mir-892c_ENST00000516410.1_RNA																							ACATGTAATCTAAGTGACTGG	0.463																																																	0																																												0																															X.37:g.145072422T>A				RNA	SNP	-	NULL	ENST00000401213.1	37	NULL		X																																																																																			AL445258.1	-	-	ENSG00000216032		0.463	AL445258.1-201	NOVEL	basic	miRNA	ENSG00000216032	Clone_based_ensembl_gene	miRNA		-	0.00	30	0	T			145072422	-1	tier1	-	no_errors	ENST00000401213	ensembl	human	novel	74_37	rna	37.14	22	13	SNP	0.000	A
MYO18B	84700	genome.wustl.edu	37	22	26291373	26291373	+	Intron	SNP	G	G	A	rs545724042		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:26291373G>A	ENST00000407587.2	+	28	4840				CTA-125H2.2_ENST00000597284.1_RNA|MYO18B_ENST00000335473.7_Intron|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Intron|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB							cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCCCTTAAGGTTTTTCCATC	0.463																																																	0																																										SO:0001627	intron_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4671+126G>A	22.37:g.26291373G>A			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	RNA	SNP	-	NULL	ENST00000407587.2	37	NULL		22																																																																																			CTA-125H2.2	-	-	ENSG00000231933		0.463	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	ENSG00000231933	Clone_based_vega_gene	protein_coding	OTTHUMT00000400691.1	-	0.00	17	0	G	NM_032608		26291373	-1	tier1	-	no_errors	ENST00000593715	ensembl	human	known	74_37	rna	37.50	10	6	SNP	0.000	A
C5orf56	441108	genome.wustl.edu	37	5	131805690	131805691	+	Intron	DEL	CA	CA	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:131805690_131805691delCA	ENST00000407797.1	+	4	211				Y_RNA_ENST00000365663.1_RNA|AC116366.6_ENST00000443093.2_RNA|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56											breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						attattgtttcacaatttttaa	0.401																																																	0																																										SO:0001627	intron_variant	0			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000407797.1:c.89-41CA>-	5.37:g.131805692_131805693delCA			A1L3V9|A6NKA0	RNA	DEL	-	NULL	ENST00000407797.1	37	NULL		5																																																																																			AC116366.6	-	-	ENSG00000234290		0.401	C5orf56-005	PUTATIVE	basic|appris_candidate	protein_coding	ENSG00000234290	Clone_based_vega_gene	protein_coding	OTTHUMT00000132333.2		0.00	32	0	CA	NM_001013717		131805691	-1	tier1		no_errors	ENST00000443093	ensembl	human	known	74_37	rna	12.50	14	2	DEL	0.010:0.009	-
SRI	6717	genome.wustl.edu	37	7	87848273	87848273	+	Intron	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:87848273C>T	ENST00000265729.2	-	2	104				SRI_ENST00000490437.1_Intron|SRI_ENST00000394641.3_Intron|AC003991.3_ENST00000594469.1_RNA|SRI_ENST00000419179.1_Intron|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000431660.1_Intron	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin						action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					AAACAGGAAACACATACACGT	0.547																																																	0													51.0	50.0	50.0					7																	87848273		2203	4300	6503	SO:0001627	intron_variant	0			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.52-16G>A	7.37:g.87848273C>T			A8MTH6|B4DKK2|D6W5Q0	RNA	SNP	-	NULL	ENST00000265729.2	37	NULL	CCDS5612.1	7																																																																																			CTB-167B5.1	-	-	ENSG00000254003		0.547	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254003	Clone_based_vega_gene	protein_coding	OTTHUMT00000253680.1	-	0.00	45	0	C	NM_003130		87848273	+1	tier1	-	no_errors	ENST00000520993	ensembl	human	known	74_37	rna	32.43	25	12	SNP	0.001	T
PIEZO2	63895	genome.wustl.edu	37	18	10727953	10727954	+	Intron	INS	-	-	A	rs200468246		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:10727953_10727954insA	ENST00000503781.3	-	33	4855				RP11-21G15.1_ENST00000581724.1_RNA|PIEZO2_ENST00000580640.1_Intron|PIEZO2_ENST00000302079.6_Intron	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2						cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										acagtaataacaaaaaaaaaaa	0.391																																																	0																																										SO:0001627	intron_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.4855+3450->T	18.37:g.10727964_10727964dupA			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	RNA	INS	-	NULL	ENST00000503781.3	37	NULL		18																																																																																			RP11-21G15.1	-	-	ENSG00000264714		0.391	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	ENSG00000264714	Clone_based_vega_gene	protein_coding	OTTHUMT00000442385.4		0.00	18	0	-	NM_022068		10727954	+1	tier1		no_errors	ENST00000581724	ensembl	human	known	74_37	rna	25.00	12	4	INS	0.001:0.001	A
MFSD3	113655	genome.wustl.edu	37	8	145737961	145737961	+	IGR	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:145737961A>G	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Intron|RECQL4_ENST00000532237.1_Intron|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAGGGAAAAAGGGACATGTG	0.642																																																	0													38.0	45.0	43.0					8																	145737961		2082	4207	6289	SO:0001628	intergenic_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737961A>G				RNA	SNP	-	NULL	ENST00000301327.4	37	NULL	CCDS6431.1	8																																																																																			CTD-2517M22.17	-	-	ENSG00000265393		0.642	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265393	Clone_based_vega_gene	protein_coding	OTTHUMT00000382478.2	-	0.00	82	0	A	NM_138431		145737961	+1	tier1	-	no_errors	ENST00000580385	ensembl	human	known	74_37	rna	6.41	73	5	SNP	0.000	G
ELL	8178	genome.wustl.edu	37	19	18554169	18554169	+	3'UTR	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:18554169G>A	ENST00000262809.4	-	0	3330				CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II						gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GAAGCTGTCAGGAGGCACCCC	0.567			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0																																										SO:0001624	3_prime_UTR_variant	0			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.*1393C>T	19.37:g.18554169G>A				RNA	SNP	-	NULL	ENST00000262809.4	37	NULL	CCDS12380.1	19																																																																																			CTD-3137H5.1	-	-	ENSG00000268199		0.567	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268199	Clone_based_vega_gene	protein_coding	OTTHUMT00000466362.1	-	0.00	125	0	G	NM_006532		18554169	+1	tier1	-	no_errors	ENST00000594590	ensembl	human	known	74_37	rna	5.36	106	6	SNP	0.000	A
ENTPD6	955	genome.wustl.edu	37	20	25206242	25206242	+	3'UTR	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:25206242C>T	ENST00000376652.4	+	0	1627				ENTPD6_ENST00000360031.2_3'UTR|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_3'UTR|ENTPD6_ENST00000433259.2_3'UTR			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)						response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGTGGCCGAGCCATCCCTGTC	0.557																																																	0													74.0	72.0	72.0					20																	25206242		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.*9C>T	20.37:g.25206242C>T			A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	RNA	SNP	-	NULL	ENST00000376652.4	37	NULL	CCDS13170.1	20																																																																																			ENTPD6	-	-	ENSG00000197586		0.557	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	-	0.00	41	0	C			25206242	+1	tier1	-	no_errors	ENST00000463734	ensembl	human	known	74_37	rna	8.89	41	4	SNP	0.000	T
EPHA1	2041	genome.wustl.edu	37	7	143088289	143088290	+	3'UTR	INS	-	-	AT			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:143088289_143088290insAT	ENST00000275815.3	-	0	3277_3278				EPHA1_ENST00000458129.1_5'UTR	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1						activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TATTTACAAAAatatatatatg	0.401																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.*261->AT	7.37:g.143088298_143088299dupAT			A1L3V3|B5A966|B5A967|Q15405	RNA	INS	-	NULL	ENST00000275815.3	37	NULL	CCDS5884.1	7																																																																																			EPHA1	-	-	ENSG00000146904		0.401	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1		0.00	46	0	-			143088290	-1	tier1		no_errors	ENST00000458129	ensembl	human	putative	74_37	rna	18.75	39	9	INS	1.000:1.000	AT
EPHX3	79852	genome.wustl.edu	37	19	15341862	15341862	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:15341862G>A	ENST00000221730.3	-	4	747	c.527C>T	c.(526-528)gCc>gTc	p.A176V	EPHX3_ENST00000602233.1_Missense_Mutation_p.A176V|EPHX3_ENST00000435261.1_Missense_Mutation_p.A176V	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	176						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCAAGGAGGGCACCCCAGTC	0.577																																																	0													115.0	91.0	99.0					19																	15341862		2203	4300	6503	SO:0001583	missense	0			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.527C>T	19.37:g.15341862G>A	ENSP00000221730:p.Ala176Val		A3KMR3	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.A176V	ENST00000221730.3	37	c.527	CCDS12327.1	19	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443449	0.63067	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.71579	-0.58;-0.58	4.37	0.615	0.17608	Alpha/beta hydrolase fold-1 (1);	0.492896	0.17267	N	0.180558	D	0.83811	0.5335	M	0.88704	2.975	0.26545	N	0.974004	D	0.71674	0.998	D	0.71656	0.974	T	0.76035	-0.3106	10	0.87932	D	0	-5.4308	11.7232	0.51693	0.0:0.5775:0.4225:0.0	.	176	Q9H6B9	EPHX3_HUMAN	V	176	ENSP00000221730:A176V;ENSP00000410323:A176V	ENSP00000221730:A176V	A	-	2	0	EPHX3	15202862	0.067000	0.21026	0.165000	0.22776	0.777000	0.43975	1.014000	0.29950	0.442000	0.26555	0.561000	0.74099	GCC	EPHX3	-	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	ENSG00000105131		0.577	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1	-	0.00	52	0	G	NM_024794		15341862	-1	tier1	-	no_errors	ENST00000221730	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.521	A
EPPK1	83481	genome.wustl.edu	37	8	144945772	144945772	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:144945772C>T	ENST00000525985.1	-	2	1721	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E				P58107	EPIPL_HUMAN	epiplakin 1	550						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCAGCCTGCTCGAGGGTGG	0.632																																																	0													21.0	25.0	24.0					8																	144945772		2151	4254	6405	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1650G>A	8.37:g.144945772C>T			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E550	ENST00000525985.1	37	c.1650		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0.00	53	0	C	NM_031308		144945772	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.657	T
ERC1	23085	genome.wustl.edu	37	12	1192560	1192560	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:1192560G>T	ENST00000397203.2	+	3	1306	c.900G>T	c.(898-900)caG>caT	p.Q300H	ERC1_ENST00000546231.2_Missense_Mutation_p.Q300H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q300H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q300H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q300H|ERC1_ENST00000543086.3_Missense_Mutation_p.Q300H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	300					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTCAAAAGCAGACCCTAAATG	0.473																																																	0													65.0	66.0	66.0					12																	1192560		2203	4300	6503	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.900G>T	12.37:g.1192560G>T	ENSP00000380386:p.Gln300His		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.Q300H	ENST00000397203.2	37	c.900	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997987	0.35226	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.56	-1.25	0.09405	.	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	L	0.56769	1.78	0.47698	D	0.999498	B;B;B;B	0.22541	0.033;0.001;0.002;0.071	B;B;B;B	0.33690	0.036;0.004;0.003;0.168	T	0.50294	-0.8845	10	0.72032	D	0.01	-18.95	12.7244	0.57162	0.2798:0.0:0.7202:0.0	.	76;300;300;300	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	H	300;300;300;300;300;300;300;300;300;300;76	ENSP00000340054:Q300H;ENSP00000380386:Q300H;ENSP00000438546:Q300H;ENSP00000445336:Q300H;ENSP00000442739:Q300H;ENSP00000347621:Q300H;ENSP00000354158:Q300H;ENSP00000410064:Q300H	ENSP00000340054:Q300H	Q	+	3	2	ERC1	1062821	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	0.640000	0.24705	-0.144000	0.11314	0.655000	0.94253	CAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.473	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2		0.00	57	0	G	NM_015064		1192560	+1			no_errors	ENST00000360905	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.995	T
ESPL1	9700	genome.wustl.edu	37	12	53682998	53682998	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:53682998G>T	ENST00000257934.4	+	21	4924	c.4833G>T	c.(4831-4833)cgG>cgT	p.R1611R	ESPL1_ENST00000552462.1_Silent_p.R1611R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1611					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.R1611R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGGCCACCGGGATCCTTATG	0.602																																					Colon(53;1069 1201 2587 5382)												1	Substitution - coding silent(1)	large_intestine(1)											143.0	136.0	138.0					12																	53682998		2203	4300	6503	SO:0001819	synonymous_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4833G>T	12.37:g.53682998G>T				Silent	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R1611	ENST00000257934.4	37	c.4833	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.602	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2		0.00	23	0	G	NM_012291		53682998	+1			no_errors	ENST00000257934	ensembl	human	known	74_37	silent	10.53	17	2	SNP	0.995	T
ETNPPL	64850	genome.wustl.edu	37	4	109667932	109667932	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:109667932C>T	ENST00000296486.3	-	10	1312	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	ETNPPL_ENST00000411864.2_Silent_p.Q380Q|ETNPPL_ENST00000510706.1_Silent_p.Q346Q|ETNPPL_ENST00000512646.1_Silent_p.Q328Q	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	386						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AGATGATGTGCTGAGCTTCAG	0.488																																																	0													239.0	240.0	240.0					4																	109667932		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1158G>A	4.37:g.109667932C>T			B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.Q386	ENST00000296486.3	37	c.1158	CCDS3682.1	4																																																																																			ETNPPL	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000164089		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	HGNC	protein_coding	OTTHUMT00000363508.1		0.00	60	0	C	NM_031279		109667932	-1			no_errors	ENST00000296486	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.989	T
EXT1	2131	genome.wustl.edu	37	8	118817064	118817064	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:118817064T>A	ENST00000378204.2	-	10	2758	c.1952A>T	c.(1951-1953)aAt>aTt	p.N651I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	651	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTCCTCACAATTGGCCAATTG	0.448			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													189.0	176.0	180.0					8																	118817064		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1952A>T	8.37:g.118817064T>A	ENSP00000367446:p.Asn651Ile		B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.N651I	ENST00000378204.2	37	c.1952	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	t	24.5	4.537731	0.85917	.	.	ENSG00000182197	ENST00000378204	D	0.91464	-2.85	5.68	4.52	0.55395	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	H	0.96460	3.825	0.58432	D	0.999999	P	0.52316	0.952	P	0.52189	0.692	D	0.95001	0.8143	10	0.62326	D	0.03	-14.304	11.4479	0.50134	0.0:0.0706:0.0:0.9294	.	651	Q16394	EXT1_HUMAN	I	651	ENSP00000367446:N651I	ENSP00000367446:N651I	N	-	2	0	EXT1	118886245	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.036000	0.88901	0.974000	0.38366	0.477000	0.44152	AAT	EXT1	-	pfam_HexNAc_Trfase_a	ENSG00000182197		0.448	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	-	0.00	127	0	T	NM_000127		118817064	-1	tier1	-	no_errors	ENST00000378204	ensembl	human	known	74_37	missense	12.87	88	13	SNP	1.000	A
FABP1	2168	genome.wustl.edu	37	2	88427516	88427516	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:88427516G>A	ENST00000295834.3	-	1	119	c.21C>T	c.(19-21)taC>taT	p.Y7Y	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Silent_p.Y7Y	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	7					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCTGCAGTTGGTACTTGCCGG	0.532																																																	0													179.0	155.0	163.0					2																	88427516		2203	4300	6503	SO:0001819	synonymous_variant	0			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.21C>T	2.37:g.88427516G>A				Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.Y7	ENST00000295834.3	37	c.21	CCDS2001.1	2																																																																																			FABP1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000163586		0.532	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP1	HGNC	protein_coding	OTTHUMT00000252660.1	-	0.00	52	0	G	NM_001443		88427516	-1	tier1	-	no_errors	ENST00000295834	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	A
FAM166B	730112	genome.wustl.edu	37	9	35563176	35563176	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:35563176G>C	ENST00000399742.2	-	2	343	c.273C>G	c.(271-273)atC>atG	p.I91M	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	91										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGTACCCAGGGATCATGCTGG	0.577																																																	0													120.0	122.0	121.0					9																	35563176		2080	4224	6304	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.273C>G	9.37:g.35563176G>C	ENSP00000382646:p.Ile91Met		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.I91M	ENST00000399742.2	37	c.273	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478714	0.63849	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.9	1.91	0.25777	.	0.827903	0.09377	U	0.810539	T	0.70020	0.3176	M	0.78049	2.395	0.36081	D	0.842765	D;D;D;D	0.61080	0.981;0.981;0.987;0.989	P;P;P;P	0.61201	0.77;0.77;0.781;0.885	T	0.70684	-0.4804	9	0.72032	D	0.01	-4.735	5.3183	0.15868	0.2275:0.157:0.6155:0.0	.	91;91;91;91	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	M	91	.	ENSP00000382646:I91M	I	-	3	3	FAM166B	35553176	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.471000	0.22100	0.787000	0.33731	0.655000	0.94253	ATC	FAM166B	-	NULL	ENSG00000215187		0.577	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1	-	0.00	39	0	G	NM_001099951		35563176	-1	tier1	-	no_errors	ENST00000447837	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.992	C
FAM46B	115572	genome.wustl.edu	37	1	27332675	27332675	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:27332675C>T	ENST00000289166.5	-	2	1203	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	346										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCACCCGGTGCAGTGTCACCA	0.672																																																	0													25.0	23.0	24.0					1																	27332675		2200	4299	6499	SO:0001819	synonymous_variant	0			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.1038G>A	1.37:g.27332675C>T				Silent	SNP	pfam_DUF1693	p.L346	ENST00000289166.5	37	c.1038	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693	ENSG00000158246		0.672	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2		0.00	29	0	C	NM_052943		27332675	-1			no_errors	ENST00000289166	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.999	T
FAM19A3	284467	genome.wustl.edu	37	1	113269299	113269299	+	3'UTR	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:113269299C>T	ENST00000361886.3	+	0	498				FAM19A3_ENST00000369630.3_Silent_p.D169D	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3							extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGCTTGACTGAGCCGTGA	0.507																																																	0													140.0	118.0	126.0					1																	113269299		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.*37C>T	1.37:g.113269299C>T			B7ZLU0|Q2M1P9|Q7Z5A6	Silent	SNP	pfam_Chemokine-like_FAM19A2	p.D169	ENST00000361886.3	37	c.507	CCDS856.1	1																																																																																			FAM19A3	-	NULL	ENSG00000184599		0.507	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A3	HGNC	protein_coding	OTTHUMT00000033255.1		0.00	27	0	C	NM_182759		113269299	+1			no_errors	ENST00000369630	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.000	T
FAM53C	51307	genome.wustl.edu	37	5	137680997	137680997	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:137680997C>T	ENST00000239906.5	+	4	1048	c.620C>T	c.(619-621)gCc>gTc	p.A207V	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.A207V|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	207										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGACCCTGCGCCGCCTCCCCT	0.632																																																	0													148.0	166.0	160.0					5																	137680997		2203	4300	6503	SO:0001583	missense	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.620C>T	5.37:g.137680997C>T	ENSP00000239906:p.Ala207Val		B2RDJ5|D3DQB9	Missense_Mutation	SNP	NULL	p.A207V	ENST00000239906.5	37	c.620	CCDS4204.1	5	.	.	.	.	.	.	.	.	.	.	C	12.71	2.021020	0.35606	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.44482	0.92;0.92	5.55	4.68	0.58851	.	0.301114	0.34603	N	0.003840	T	0.36468	0.0968	L	0.36672	1.1	0.80722	D	1	P	0.50819	0.939	P	0.45406	0.479	T	0.09292	-1.0681	9	.	.	.	-1.7497	11.9455	0.52926	0.0:0.9171:0.0:0.0829	.	207	Q9NYF3	FA53C_HUMAN	V	207	ENSP00000403705:A207V;ENSP00000239906:A207V	.	A	+	2	0	FAM53C	137708896	0.941000	0.31946	0.798000	0.32154	0.966000	0.64601	2.003000	0.40844	1.579000	0.49836	0.655000	0.94253	GCC	FAM53C	-	NULL	ENSG00000120709		0.632	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	-	0.00	64	0	C	NM_016605		137680997	+1	tier1	-	no_errors	ENST00000239906	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.962	T
FAM86A	196483	genome.wustl.edu	37	16	5147684	5147684	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:5147684G>A	ENST00000427587.4	-	1	125	c.57C>T	c.(55-57)cgC>cgT	p.R19R	FAM86A_ENST00000587133.1_Silent_p.R19R|RP11-10K17.6_ENST00000589323.1_lincRNA|FAM86A_ENST00000458008.4_Silent_p.R19R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	19						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CCGCCAGGAAGCGGCGCTCGA	0.746																																																	0													10.0	12.0	11.0					16																	5147684		2159	4223	6382	SO:0001819	synonymous_variant	0			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.57C>T	16.37:g.5147684G>A			D3DUF0|Q96S85	Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.R19	ENST00000427587.4	37	c.57	CCDS10529.1	16																																																																																			FAM86A	-	NULL	ENSG00000118894		0.746	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86A	HGNC	protein_coding	OTTHUMT00000251713.1	-	0.00	77	0	G	NM_201400		5147684	-1	tier1	-	no_errors	ENST00000427587	ensembl	human	known	74_37	silent	28.41	63	25	SNP	1.000	A
FEM1C	56929	genome.wustl.edu	37	5	114879143	114879143	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:114879143G>A	ENST00000274457.3	-	2	609	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	16					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGAGAAGCCGGAGTTTGCCAT	0.468																																																	0													53.0	59.0	57.0					5																	114879143		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.48C>T	5.37:g.114879143G>A			B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L16	ENST00000274457.3	37	c.48	CCDS4118.1	5																																																																																			FEM1C	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145780		0.468	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3		0.00	54	0	G	NM_020177		114879143	-1			no_errors	ENST00000274457	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127728955	127728955	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:127728955G>T	ENST00000508053.1	-	16	2312	c.1338C>A	c.(1336-1338)ggC>ggA	p.G446G	FBN2_ENST00000508989.1_Silent_p.G413G|FBN2_ENST00000262464.4_Silent_p.G446G			P35556	FBN2_HUMAN	fibrillin 2	446					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTGCCATTGCCACTTGGGG	0.607																																																	0													86.0	77.0	80.0					5																	127728955		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1338C>A	5.37:g.127728955G>T			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G446	ENST00000508053.1	37	c.1338	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN	ENSG00000138829		0.607	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	54	0	G	NM_001999		127728955	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	28.89	32	13	SNP	0.997	T
FERMT1	55612	genome.wustl.edu	37	20	6091160	6091160	+	Splice_Site	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:6091160T>A	ENST00000217289.4	-	5	1321		c.e5-2		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAGGACTTACTGCAAGGCAGG	0.383																																																	0													134.0	131.0	132.0					20																	6091160		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.533-2A>T	20.37:g.6091160T>A			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	-	e4-2	ENST00000217289.4	37	c.533-2	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057608	0.55325	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.162	0.81727	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6039160	1.000000	0.71417	0.999000	0.59377	0.658000	0.38924	5.841000	0.69409	2.224000	0.72417	0.533000	0.62120	.	FERMT1	-	-	ENSG00000101311		0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	-	0.00	31	0	T	NM_017671	Intron	6091160	-1	tier1	-	no_errors	ENST00000217289	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	A
FHIT	2272	genome.wustl.edu	37	3	59997128	59997128	+	Splice_Site	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:59997128T>C	ENST00000468189.1	-	7	620		c.e7-2		FHIT_ENST00000466788.1_Splice_Site|FHIT_ENST00000341848.4_Splice_Site|FHIT_ENST00000492590.1_Splice_Site|FHIT_ENST00000476844.1_Splice_Site			P49789	FHIT_HUMAN	fragile histidine triad						DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GGGGCCATCCTAGAAGTAGGA	0.368			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																															Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													70.0	76.0	74.0					3																	59997128		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.250-2A>G	3.37:g.59997128T>C			A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Splice_Site	SNP	-	e3-2	ENST00000468189.1	37	c.250-2	CCDS2894.1	3	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852989	0.71719	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9024	0.63812	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FHIT	59972168	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	3.338000	0.52128	2.042000	0.60477	0.482000	0.46254	.	FHIT	-	-	ENSG00000189283		0.368	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	-	0.00	72	0	T	NM_002012	Intron	59997128	-1	tier1	-	no_errors	ENST00000341848	ensembl	human	known	74_37	splice_site	30.77	36	16	SNP	1.000	C
FIGN	55137	genome.wustl.edu	37	2	164468194	164468194	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:164468194A>G	ENST00000333129.3	-	3	462	c.148T>C	c.(148-150)Tat>Cat	p.Y50H	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	50					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCGTACTGATAGGTGCGCTGC	0.498																																																	0													128.0	128.0	128.0					2																	164468194		2055	4209	6264	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.148T>C	2.37:g.164468194A>G	ENSP00000333836:p.Tyr50His		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y50H	ENST00000333129.3	37	c.148	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442687	0.63067	.	.	ENSG00000182263	ENST00000333129	T	0.38887	1.11	6.17	6.17	0.99709	.	0.000000	0.64402	U	0.000001	T	0.62527	0.2435	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.59825	-0.7381	10	0.39692	T	0.17	-21.7445	16.8222	0.85835	1.0:0.0:0.0:0.0	.	50	Q5HY92	FIGN_HUMAN	H	50	ENSP00000333836:Y50H	ENSP00000333836:Y50H	Y	-	1	0	FIGN	164176440	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAT	FIGN	-	NULL	ENSG00000182263		0.498	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0.00	51	0	A	NM_018086		164468194	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	26.92	57	21	SNP	1.000	G
FLT4	2324	genome.wustl.edu	37	5	180048054	180048054	+	Intron	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:180048054G>A	ENST00000261937.6	-	15	2246				FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Intron|FLT4_ENST00000393347.3_Intron	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4						blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTTGGGATCGTCGGCCTCGC	0.667																																					Colon(97;1075 1466 27033 27547 35871)												0													20.0	22.0	22.0					5																	180048054		2203	4295	6498	SO:0001627	intron_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2168-47C>T	5.37:g.180048054G>A			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	RNA	SNP	-	NULL	ENST00000261937.6	37	NULL	CCDS4457.1	5																																																																																			FLT4	-	-	ENSG00000037280		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0.00	47	0	G			180048054	-1	tier1	-	no_errors	ENST00000424276	ensembl	human	known	74_37	rna	19.35	25	6	SNP	0.000	A
FPGS	2356	genome.wustl.edu	37	9	130570536	130570536	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:130570536G>A	ENST00000373247.2	+	9	818	c.768G>A	c.(766-768)gtG>gtA	p.V256V	FPGS_ENST00000373225.3_Silent_p.V206V|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Silent_p.V256V|FPGS_ENST00000393706.2_Silent_p.V230V	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	256					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CCTTCACTGTGCTCCAACCTG	0.597																																																	0													119.0	100.0	106.0					9																	130570536		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.768G>A	9.37:g.130570536G>A			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.V256	ENST00000373247.2	37	c.768	CCDS35148.1	9																																																																																			FPGS	-	superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth	ENSG00000136877		0.597	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	-	0.00	48	0	G			130570536	+1	tier1	-	no_errors	ENST00000373247	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.885	A
FSIP2	401024	genome.wustl.edu	37	2	186655868	186655868	+	Silent	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:186655868T>C	ENST00000424728.1	+	16	4005	c.4005T>C	c.(4003-4005)gcT>gcC	p.A1335A	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Silent_p.A1424A|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1335										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTTTTTGCTAATACTGATA	0.328																																																	0																																										SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.4005T>C	2.37:g.186655868T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.A1424	ENST00000424728.1	37	c.4272		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	31	0	T	NM_173651		186655868	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.000	C
GBF1	8729	genome.wustl.edu	37	10	104119146	104119146	+	Silent	SNP	C	C	T	rs567964819		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:104119146C>T	ENST00000369983.3	+	11	1391	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	377					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACATGGATTACGTCAATCCCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20977	0.001		0.0	False		,,,				2504	0.0																0													164.0	125.0	139.0					10																	104119146		2203	4300	6503	SO:0001819	synonymous_variant	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1131C>T	10.37:g.104119146C>T			Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.Y377	ENST00000369983.3	37	c.1131	CCDS7533.1	10																																																																																			GBF1	-	superfamily_ARM-type_fold	ENSG00000107862		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	-	0.00	72	0	C			104119146	+1	tier1	-	no_errors	ENST00000369983	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.741	T
GCNT3	9245	genome.wustl.edu	37	15	59911073	59911073	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:59911073C>T	ENST00000396065.1	+	3	1084	c.636C>T	c.(634-636)gaC>gaT	p.D212D	GCNT3_ENST00000560585.1_Silent_p.D212D	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	212					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATGGAAGACTTGCTCCAGA	0.488																																																	0													133.0	125.0	128.0					15																	59911073		2190	4290	6480	SO:0001819	synonymous_variant	0			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.636C>T	15.37:g.59911073C>T				Silent	SNP	pfam_Glyco_trans_14	p.D212	ENST00000396065.1	37	c.636	CCDS10172.1	15																																																																																			GCNT3	-	pfam_Glyco_trans_14	ENSG00000140297		0.488	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1		0.00	80	0	C	NM_004751		59911073	+1			no_errors	ENST00000396065	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.994	T
GDPD3	79153	genome.wustl.edu	37	16	30124768	30124768	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:30124768G>A	ENST00000406256.3	-	1	409	c.32C>T	c.(31-33)gCc>gTc	p.A11V	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	11					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCTGCCCAGGGCAGGGAGGGC	0.652																																																	0													75.0	91.0	86.0					16																	30124768		2142	4263	6405	SO:0001583	missense	0			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.32C>T	16.37:g.30124768G>A	ENSP00000384363:p.Ala11Val		Q9H652	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.A11V	ENST00000406256.3	37	c.32	CCDS10671.2	16	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384389	0.42308	.	.	ENSG00000102886	ENST00000406256	.	.	.	5.89	5.89	0.94794	.	0.283293	0.28062	U	0.016741	T	0.41119	0.1145	L	0.43152	1.355	0.26124	N	0.980508	B	0.20887	0.049	B	0.18871	0.023	T	0.17992	-1.0351	9	0.20519	T	0.43	-4.1537	15.7362	0.77846	0.0:0.0:1.0:0.0	.	11	Q7L5L3	GDPD3_HUMAN	V	11	.	ENSP00000384363:A11V	A	-	2	0	GDPD3	30032269	0.995000	0.38212	0.747000	0.31113	0.396000	0.30629	2.706000	0.47135	2.791000	0.96007	0.591000	0.81541	GCC	GDPD3	-	NULL	ENSG00000102886		0.652	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD3	HGNC	protein_coding	OTTHUMT00000255144.1	-	0.00	71	0	G	NM_024307		30124768	-1	tier1	-	no_errors	ENST00000406256	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.614	A
GJC1	10052	genome.wustl.edu	37	17	42883008	42883008	+	Missense_Mutation	SNP	A	A	G	rs189511236		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:42883008A>G	ENST00000426548.1	-	3	447	c.178T>C	c.(178-180)Tgt>Cgt	p.C60R	GJC1_ENST00000330514.4_Missense_Mutation_p.C60R|GJC1_ENST00000592524.1_Missense_Mutation_p.C60R|GJC1_ENST00000590758.1_Missense_Mutation_p.C60R	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	60					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACATTCTCACAGCCCGGCTGT	0.493																																																	0													159.0	138.0	145.0					17																	42883008		2203	4300	6503	SO:0001583	missense	0			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.178T>C	17.37:g.42883008A>G	ENSP00000411528:p.Cys60Arg		B3KW68|Q4VAY0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45	p.C60R	ENST00000426548.1	37	c.178	CCDS11487.1	17	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329166	0.60743	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99741	-6.6;-6.6	5.27	5.27	0.74061	Connexin, conserved site (1);Connexin, N-terminal (2);	0.100806	0.64402	D	0.000001	D	0.99809	0.9917	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96833	0.9612	10	0.87932	D	0	.	14.3922	0.66986	1.0:0.0:0.0:0.0	.	60	P36383	CXG1_HUMAN	R	60	ENSP00000411528:C60R;ENSP00000333193:C60R	ENSP00000333193:C60R	C	-	1	0	GJC1	40238534	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.339000	0.96797	1.994000	0.58287	0.379000	0.24179	TGT	GJC1	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000182963		0.493	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC1	HGNC	protein_coding	OTTHUMT00000448661.1	-	0.00	46	0	A	NM_005497		42883008	-1	tier1	-	no_errors	ENST00000330514	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G
GLI1	2735	genome.wustl.edu	37	12	57865571	57865571	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:57865571G>A	ENST00000228682.2	+	12	3139	c.3048G>A	c.(3046-3048)gtG>gtA	p.V1016V	GLI1_ENST00000546141.1_Silent_p.V975V|GLI1_ENST00000543426.1_Silent_p.V888V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1016					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ATCCTGAGGTGGGCAGGCTAG	0.582																																					Pancreas(157;841 1936 10503 41495 50368)												0													114.0	105.0	108.0					12																	57865571		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3048G>A	12.37:g.57865571G>A			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1016	ENST00000228682.2	37	c.3048	CCDS8940.1	12																																																																																			GLI1	-	NULL	ENSG00000111087		0.582	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1		0.00	37	0	G	NM_005269		57865571	+1			no_errors	ENST00000228682	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.994	A
GLIPR1L2	144321	genome.wustl.edu	37	12	75807475	75807475	+	Missense_Mutation	SNP	C	C	T	rs550463995		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:75807475C>T	ENST00000550916.1	+	3	625	c.578C>T	c.(577-579)gCg>gTg	p.A193V	GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.A193V|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.A86V|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.A128V|GLIPR1L2_ENST00000435775.1_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	193						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCAACTATGCGCCAGGGTAA	0.289													C|||	1	0.000199681	0.0	0.0	5008	,	,		11243	0.001		0.0	False		,,,				2504	0.0																0													81.0	86.0	84.0					12																	75807475		2202	4295	6497	SO:0001583	missense	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.578C>T	12.37:g.75807475C>T	ENSP00000448248:p.Ala193Val		Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.A193V	ENST00000550916.1	37	c.578	CCDS58258.1	12	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250561	0.59212	.	.	ENSG00000180481	ENST00000550916;ENST00000378692;ENST00000320460;ENST00000441218	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.14	3.16	0.36331	CAP domain (2);	0.062202	0.64402	D	0.000005	T	0.12603	0.0306	L	0.49350	1.555	0.31845	N	0.622947	D;D	0.58620	0.983;0.972	B;P	0.48400	0.353;0.576	T	0.07770	-1.0755	10	0.38643	T	0.18	.	6.321	0.21217	0.0:0.5334:0.3665:0.1001	.	193;193	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	V	193;86;193;128	ENSP00000448248:A193V;ENSP00000367963:A86V;ENSP00000317385:A193V;ENSP00000405273:A128V	ENSP00000317385:A193V	A	+	2	0	GLIPR1L2	74093742	0.809000	0.29036	1.000000	0.80357	0.987000	0.75469	0.328000	0.19681	1.376000	0.46267	0.591000	0.81541	GCG	GLIPR1L2	-	superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000180481		0.289	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0.00	82	0	C	NM_152436		75807475	+1			no_errors	ENST00000550916	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.999	T
GLRA3	8001	genome.wustl.edu	37	4	175565062	175565062	+	Silent	SNP	G	G	T	rs369207686		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:175565062G>T	ENST00000274093.3	-	10	1772	c.1270C>A	c.(1270-1272)Cgg>Agg	p.R424R	GLRA3_ENST00000340217.5_Silent_p.R409R	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	424					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R424G(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTCTTGGCCCGGTCGATAAAG	0.428																																																	1	Substitution - Missense(1)	lung(1)											152.0	133.0	140.0					4																	175565062		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1270C>A	4.37:g.175565062G>T			D3DP44|O75816|Q5D0E3	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R424	ENST00000274093.3	37	c.1270	CCDS3822.1	4																																																																																			GLRA3	-	superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000145451		0.428	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1		0.00	54	0	G			175565062	-1			no_errors	ENST00000274093	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.980	T
GOLGB1	2804	genome.wustl.edu	37	3	121437303	121437303	+	Missense_Mutation	SNP	A	A	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:121437303A>C	ENST00000340645.5	-	8	927	c.802T>G	c.(802-804)Ttg>Gtg	p.L268V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L273V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	268					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CGGCCCACCAAGGATTCTTCG	0.453																																																	0													116.0	111.0	113.0					3																	121437303		2203	4300	6503	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.802T>G	3.37:g.121437303A>C	ENSP00000341848:p.Leu268Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L268V	ENST00000340645.5	37	c.802	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459847	0.43736	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.55588	0.95;0.96;0.51	5.06	1.25	0.21368	.	0.000000	0.46145	D	0.000301	T	0.65165	0.2665	M	0.78049	2.395	0.34388	D	0.693871	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;D	0.83275	0.996;0.99;0.996;0.99;0.996	T	0.67484	-0.5659	10	0.27082	T	0.32	.	6.412	0.21696	0.6526:0.0:0.3474:0.0	.	193;232;273;273;268	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	268;273;232;80	ENSP00000341848:L268V;ENSP00000377275:L273V;ENSP00000418231:L232V	ENSP00000341848:L268V	L	-	1	2	GOLGB1	122919993	1.000000	0.71417	0.714000	0.30535	0.990000	0.78478	1.100000	0.31025	0.150000	0.19136	0.533000	0.62120	TTG	GOLGB1	-	NULL	ENSG00000173230		0.453	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0.00	72	0	A	NM_004487		121437303	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	46.77	33	29	SNP	0.838	C
GPR161	23432	genome.wustl.edu	37	1	168073767	168073767	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:168073767G>T	ENST00000367838.1	-	4	635	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	GPR161_ENST00000367835.1_Missense_Mutation_p.L108M|GPR161_ENST00000361697.2_Missense_Mutation_p.L108M|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Missense_Mutation_p.L128M|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000271357.5_Missense_Mutation_p.L108M	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	108					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGATCAGCAGGTAGAGGAGG	0.557																																																	0													120.0	111.0	114.0					1																	168073767		2203	4300	6503	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.322C>A	1.37:g.168073767G>T	ENSP00000356812:p.Leu108Met		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L128M	ENST00000367838.1	37	c.382	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034540	0.35893	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367835;ENST00000537209;ENST00000361697	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.47	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.140180	0.48286	D	0.000191	T	0.41719	0.1171	L	0.31294	0.92	0.38107	D	0.937442	B;B;B;B	0.25312	0.098;0.123;0.013;0.075	B;B;B;B	0.26416	0.046;0.056;0.022;0.069	T	0.45425	-0.9262	9	0.51188	T	0.08	-6.8849	7.9159	0.29818	0.0816:0.0:0.6668:0.2516	.	128;128;108;108	F5GXD6;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;GP161_HUMAN	M	108;108;108;128;108	ENSP00000356812:L108M;ENSP00000271357:L108M;ENSP00000356809:L108M;ENSP00000441039:L128M;ENSP00000355194:L108M	ENSP00000271357:L108M	L	-	1	2	GPR161	166340391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.558000	0.86282	0.655000	0.94253	CTG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000143147		0.557	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0.00	50	0	G	NM_007369		168073767	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
GPRC5C	55890	genome.wustl.edu	37	17	72442995	72442995	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:72442995G>A	ENST00000392627.1	+	4	2415	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.G397E|GPRC5C_ENST00000342648.5_Missense_Mutation_p.G70E|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	385					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CAGTCCGAAGGAGCTTACGAC	0.632																																																	0													48.0	42.0	44.0					17																	72442995		2203	4300	6503	SO:0001583	missense	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1289G>A	17.37:g.72442995G>A	ENSP00000376403:p.Gly430Glu		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G430E	ENST00000392627.1	37	c.1289	CCDS11699.1	17	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831386	0.50845	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.16897	2.31	5.29	5.29	0.74685	.	0.645972	0.16148	N	0.227395	T	0.33962	0.0881	L	0.36672	1.1	0.32762	N	0.504993	D;P;P;P	0.89917	1.0;0.651;0.651;0.822	D;B;B;B	0.81914	0.995;0.198;0.198;0.173	T	0.18366	-1.0339	10	0.41790	T	0.15	-27.5923	17.8626	0.88786	0.0:0.0:1.0:0.0	.	96;385;385;397	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	E	385;430;96;397;385	ENSP00000376405:G397E	ENSP00000262616:G96E	G	+	2	0	GPRC5C	69954590	1.000000	0.71417	0.827000	0.32855	0.995000	0.86356	3.817000	0.55668	2.648000	0.89879	0.561000	0.74099	GGA	GPRC5C	-	NULL	ENSG00000170412		0.632	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145094.2	-	0.00	87	0	G			72442995	+1	tier1	-	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	15.58	65	12	SNP	0.976	A
GSR	2936	genome.wustl.edu	37	8	30560690	30560690	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:30560690C>A	ENST00000221130.5	-	5	650	c.560G>T	c.(559-561)aGt>aTt	p.S187I	GSR_ENST00000537535.1_Missense_Mutation_p.S187I|GSR_ENST00000546342.1_Missense_Mutation_p.S187I|GSR_ENST00000414019.1_Missense_Mutation_p.S144I|GSR_ENST00000541648.1_Missense_Mutation_p.S187I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	187					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CTTTTTCCCACTGACCTCTAT	0.522																																																	0													256.0	213.0	227.0					8																	30560690		2203	4300	6503	SO:0001583	missense	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.560G>T	8.37:g.30560690C>A	ENSP00000221130:p.Ser187Ile		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.S187I	ENST00000221130.5	37	c.560	CCDS34877.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376039|1.376039	0.24857|0.24857	.|.	.|.	ENSG00000104687|ENSG00000104687	ENST00000520888|ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535;ENST00000521479	.|T;T;T;T;T;D	.|0.83673	.|1.71;1.71;0.86;0.86;0.86;-1.75	6.14|6.14	-2.3|-2.3	0.06785|0.06785	.|Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	.|0.259259	.|0.48767	.|D	.|0.000179	T|T	0.73636|0.73636	0.3612|0.3612	L|L	0.41906|0.41906	1.305|1.305	0.27087|0.27087	N|N	0.962931|0.962931	.|B	.|0.30361	.|0.277	.|B	.|0.32342	.|0.144	T|T	0.65425|0.65425	-0.6171|-0.6171	5|10	.|0.87932	.|D	.|0	-9.2409|-9.2409	11.4741|11.4741	0.50286|0.50286	0.0:0.4314:0.0:0.5686|0.0:0.4314:0.0:0.5686	.|.	.|187	.|P00390	.|GSHR_HUMAN	H|I	142|187;144;187;187;187;75	.|ENSP00000221130:S187I;ENSP00000390065:S144I;ENSP00000445516:S187I;ENSP00000444559:S187I;ENSP00000438845:S187I;ENSP00000430825:S75I	.|ENSP00000221130:S187I	Q|S	-|-	3|2	2|0	GSR|GSR	30680232|30680232	0.775000|0.775000	0.28604|0.28604	0.014000|0.014000	0.15608|0.15608	0.015000|0.015000	0.08874|0.08874	0.427000|0.427000	0.21379|0.21379	-0.627000|-0.627000	0.05589|0.05589	-0.377000|-0.377000	0.06932|0.06932	CAG|AGT	GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.522	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	-	0.00	55	0	C			30560690	-1	tier1	-	no_errors	ENST00000221130	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.813	A
HM13	81502	genome.wustl.edu	37	20	30126009	30126009	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:30126009C>T	ENST00000340852.5	+	3	434	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	HM13_ENST00000398174.3_Silent_p.L104L|HM13_ENST00000376127.3_Silent_p.L104L|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Silent_p.L104L	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	104					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CATCAACCTCCTGCTGTCCAT	0.507																																																	0													146.0	124.0	131.0					20																	30126009		2203	4300	6503	SO:0001819	synonymous_variant	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.310C>T	20.37:g.30126009C>T			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.L104	ENST00000340852.5	37	c.310	CCDS13182.1	20																																																																																			HM13	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000101294		0.507	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	-	0.00	44	0	C	NM_178580		30126009	+1	tier1	-	no_errors	ENST00000398174	ensembl	human	known	74_37	silent	25.58	32	11	SNP	1.000	T
HNRNPD	3184	genome.wustl.edu	37	4	83292697	83292697	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:83292697C>T	ENST00000313899.7	-	2	551	c.274G>A	c.(274-276)Gca>Aca	p.A92T	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Intron|RP11-127B20.3_ENST00000609552.1_RNA|HNRNPD_ENST00000543098.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.A92T|RP11-127B20.3_ENST00000609575.1_RNA	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	92					circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCCCGCTGTGCCGTCGCTGCT	0.388																																																	0													65.0	63.0	64.0					4																	83292697		2203	4300	6503	SO:0001583	missense	0			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.274G>A	4.37:g.83292697C>T	ENSP00000313199:p.Ala92Thr		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.A92T	ENST00000313899.7	37	c.274	CCDS3592.1	4	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188150	0.21954	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000509263;ENST00000507010;ENST00000509107	T;T;D;T;D	0.85629	-0.25;0.03;-2.01;2.25;-2.01	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);	0.081014	0.48767	D	0.000170	D	0.86847	0.6031	L	0.31207	0.915	0.80722	D	1	D;P	0.67145	0.996;0.924	D;P	0.73708	0.981;0.827	T	0.82878	-0.0239	10	0.18276	T	0.48	.	15.6578	0.77155	0.0:1.0:0.0:0.0	.	92;92	Q14103-3;Q14103	.;HNRPD_HUMAN	T	92;92;25;92;46	ENSP00000313199:A92T;ENSP00000313327:A92T;ENSP00000420926:A25T;ENSP00000421952:A92T;ENSP00000425439:A46T	ENSP00000313199:A92T	A	-	1	0	HNRNPD	83511721	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.137000	0.31479	2.767000	0.95098	0.655000	0.94253	GCA	HNRNPD	-	NULL	ENSG00000138668		0.388	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2	-	0.00	40	0	C	NM_031370		83292697	-1	tier1	-	no_errors	ENST00000313899	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
HNRNPR	10236	genome.wustl.edu	37	1	23645059	23645059	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:23645059C>T	ENST00000374612.1	-	8	1057	c.934G>A	c.(934-936)Gga>Aga	p.G312R	HNRNPR_ENST00000426846.2_Missense_Mutation_p.G152R|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G315R|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G312R|HNRNPR_ENST00000478691.1_Missense_Mutation_p.G214R|HNRNPR_ENST00000606561.1_Missense_Mutation_p.G173R|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G274R	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	312	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACTTTTCCACTCATCAGC	0.463																																																	0													130.0	124.0	126.0					1																	23645059		2203	4300	6503	SO:0001583	missense	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.934G>A	1.37:g.23645059C>T	ENSP00000363741:p.Gly312Arg		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G315R	ENST00000374612.1	37	c.943	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.285242	0.95517	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.27557	1.69;1.66;1.66;1.91;2.52	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.64567	1.98	0.80722	D	1	D;D;D;D;P;D	0.89917	0.998;1.0;1.0;1.0;0.954;0.998	D;D;D;D;P;D	0.97110	0.994;1.0;0.998;1.0;0.87;0.984	T	0.54964	-0.8214	10	0.87932	D	0	.	18.7104	0.91655	0.0:1.0:0.0:0.0	.	152;274;173;292;312;315	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	R	315;312;312;274;152	ENSP00000363745:G315R;ENSP00000363741:G312R;ENSP00000304405:G312R;ENSP00000392799:G274R;ENSP00000415042:G152R	ENSP00000304405:G312R	G	-	1	0	HNRNPR	23517646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GGA	HNRNPR	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000125944		0.463	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	-	0.00	65	0	C	NM_005826		23645059	-1	tier1	-	no_errors	ENST00000374616	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T
HSD17B13	345275	genome.wustl.edu	37	4	88239522	88239522	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:88239522C>G	ENST00000328546.4	-	2	341	c.277G>C	c.(277-279)Gac>Cac	p.D93H	HSD17B13_ENST00000302219.6_Intron|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	93						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTGCTGCAGTCTACCACATAC	0.458																																																	0													140.0	124.0	129.0					4																	88239522		2203	4300	6503	SO:0001583	missense	0				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.277G>C	4.37:g.88239522C>G	ENSP00000333300:p.Asp93His		A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.D93H	ENST00000328546.4	37	c.277	CCDS3618.1	4	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311249	0.60414	.	.	ENSG00000170509	ENST00000328546	D	0.97994	-4.65	4.94	4.08	0.47627	NAD(P)-binding domain (1);	0.079586	0.51477	D	0.000093	D	0.98966	0.9648	H	0.96547	3.84	0.43267	D	0.995215	D	0.89917	1.0	D	0.80764	0.994	D	0.98616	1.0665	10	0.87932	D	0	.	10.9682	0.47424	0.0:0.851:0.0:0.149	.	93	Q7Z5P4	DHB13_HUMAN	H	93	ENSP00000333300:D93H	ENSP00000333300:D93H	D	-	1	0	HSD17B13	88458546	0.988000	0.35896	0.995000	0.50966	0.602000	0.36980	2.781000	0.47750	2.548000	0.85928	0.591000	0.81541	GAC	HSD17B13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000170509		0.458	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1		0.00	46	0	C	NM_178135		88239522	-1			no_errors	ENST00000328546	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.993	G
IL18RAP	8807	genome.wustl.edu	37	2	103067351	103067351	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:103067351C>A	ENST00000264260.2	+	11	1843	c.1254C>A	c.(1252-1254)agC>agA	p.S418R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.S276R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	418	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAAATGGAGCTCTTTTCCAA	0.338																																																	0													105.0	115.0	111.0					2																	103067351		2203	4300	6503	SO:0001583	missense	0			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1254C>A	2.37:g.103067351C>A	ENSP00000264260:p.Ser418Arg		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.S418R	ENST00000264260.2	37	c.1254	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642041	0.14451	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02552	4.3;4.25	5.9	4.08	0.47627	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.529823	0.20286	N	0.095342	T	0.04407	0.0121	M	0.62723	1.935	0.09310	N	1	B	0.27013	0.166	B	0.28638	0.092	T	0.18999	-1.0319	10	0.41790	T	0.15	.	9.0663	0.36465	0.0:0.7572:0.0:0.2428	.	418	O95256	I18RA_HUMAN	R	418;276	ENSP00000264260:S418R;ENSP00000387201:S276R	ENSP00000264260:S418R	S	+	3	2	IL18RAP	102433783	0.000000	0.05858	0.064000	0.19789	0.133000	0.20885	0.251000	0.18257	2.788000	0.95919	0.650000	0.86243	AGC	IL18RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000115607		0.338	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	-	0.00	66	0	C	NM_003853		103067351	+1	tier1	-	no_errors	ENST00000264260	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.006	A
ILF2	3608	genome.wustl.edu	37	1	153636905	153636905	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:153636905G>A	ENST00000361891.4	-	9	748	c.623C>T	c.(622-624)gCc>gTc	p.A208V	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	208	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACCAGCGGGCATGTCGGAT	0.423																																																	0													126.0	118.0	121.0					1																	153636905		2203	4300	6503	SO:0001583	missense	0			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.623C>T	1.37:g.153636905G>A	ENSP00000355011:p.Ala208Val		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.A208V	ENST00000361891.4	37	c.623	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691313	0.88735	.	.	ENSG00000143621	ENST00000361891	T	0.44083	0.93	5.62	5.62	0.85841	DZF (2);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.49778	1.585	0.80722	D	1	B;B	0.33022	0.343;0.394	B;P	0.45232	0.343;0.474	T	0.36089	-0.9762	10	0.54805	T	0.06	-8.5398	17.1679	0.86821	0.0:0.0:1.0:0.0	.	208;208	F4ZW62;Q12905	.;ILF2_HUMAN	V	208	ENSP00000355011:A208V	ENSP00000355011:A208V	A	-	2	0	ILF2	151903529	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.723000	0.91458	2.661000	0.90470	0.650000	0.86243	GCC	ILF2	-	pfam_DZF,smart_DZF	ENSG00000143621		0.423	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	-	0.00	52	0	G	NM_004515		153636905	-1	tier1	-	no_errors	ENST00000361891	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A
INO80	54617	genome.wustl.edu	37	15	41365685	41365685	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:41365685G>T	ENST00000361937.3	-	11	1760	c.1336C>A	c.(1336-1338)Cat>Aat	p.H446N	INO80_ENST00000401393.3_Missense_Mutation_p.H446N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	446	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTTTAAAATGGTTACTATCT	0.383																																																	0													146.0	138.0	141.0					15																	41365685		2203	4300	6503	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1336C>A	15.37:g.41365685G>T	ENSP00000355205:p.His446Asn		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H446N	ENST00000361937.3	37	c.1336	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827447	0.32329	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90069	-2.61;-2.61	5.63	4.62	0.57501	.	0.256396	0.41396	D	0.000886	T	0.76463	0.3991	N	0.22421	0.69	0.29537	N	0.852374	B	0.16603	0.018	B	0.15484	0.013	T	0.60919	-0.7167	10	0.18276	T	0.48	.	3.7013	0.08383	0.3436:0.0:0.6564:0.0	.	446	Q9ULG1	INO80_HUMAN	N	446	ENSP00000355205:H446N;ENSP00000384686:H446N	ENSP00000355205:H446N	H	-	1	0	INO80	39152977	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.158000	0.71851	2.665000	0.90641	0.591000	0.81541	CAT	INO80	-	NULL	ENSG00000128908		0.383	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0.00	62	0	G	NM_017553		41365685	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
INSR	3643	genome.wustl.edu	37	19	7141779	7141779	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:7141779T>A	ENST00000302850.5	-	13	2733	c.2591A>T	c.(2590-2592)aAc>aTc	p.N864I	INSR_ENST00000341500.5_Missense_Mutation_p.N852I	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	864	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GACGACGTTGTTCTCAAAGAT	0.512																																																	0													176.0	130.0	146.0					19																	7141779		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2591A>T	19.37:g.7141779T>A	ENSP00000303830:p.Asn864Ile		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.N864I	ENST00000302850.5	37	c.2591	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016786	0.35606	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.50001	0.76;0.76	5.3	5.3	0.74995	Fibronectin, type III (4);	0.290613	0.23836	U	0.044082	T	0.47284	0.1437	L	0.44542	1.39	0.40165	D	0.977109	B;B	0.25105	0.05;0.118	B;B	0.40066	0.213;0.318	T	0.49835	-0.8897	10	0.44086	T	0.13	.	9.4398	0.38661	0.0:0.0:0.1789:0.8211	.	852;864	P06213-2;P06213	.;INSR_HUMAN	I	864;852	ENSP00000303830:N864I;ENSP00000342838:N852I	ENSP00000303830:N864I	N	-	2	0	INSR	7092779	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.480000	0.66820	1.994000	0.58287	0.528000	0.53228	AAC	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171105		0.512	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1		0.00	50	0	T			7141779	-1			no_errors	ENST00000302850	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A
ITGA3	3675	genome.wustl.edu	37	17	48157713	48157713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:48157713C>T	ENST00000320031.8	+	22	3124	c.2794C>T	c.(2794-2796)Cga>Tga	p.R932*	ITGA3_ENST00000007722.7_Nonsense_Mutation_p.R932*	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	932					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGTGAAGGCACGAGTGTGGAA	0.617																																																	0													121.0	83.0	96.0					17																	48157713		2203	4300	6503	SO:0001587	stop_gained	0			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2794C>T	17.37:g.48157713C>T	ENSP00000315190:p.Arg932*		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R932*	ENST00000320031.8	37	c.2794	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	C	44	11.111928	0.99517	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4755	0.55811	0.1675:0.8325:0.0:0.0	.	.	.	.	X	932;918;932	.	ENSP00000007722:R932X	R	+	1	2	ITGA3	45512712	0.998000	0.40836	0.974000	0.42286	0.821000	0.46438	3.825000	0.55730	2.632000	0.89209	0.655000	0.94253	CGA	ITGA3	-	NULL	ENSG00000005884		0.617	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	-	0.00	50	0	C	NM_005501		48157713	+1	tier1	-	no_errors	ENST00000320031	ensembl	human	known	74_37	nonsense	16.67	30	6	SNP	0.956	T
ITGAD	3681	genome.wustl.edu	37	16	31419760	31419760	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:31419760G>A	ENST00000389202.2	+	10	1073	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	342					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGTCCAGGGCAAGCAGCTC	0.547																																																	0													78.0	69.0	72.0					16																	31419760		2197	4300	6497	SO:0001583	missense	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1024G>A	16.37:g.31419760G>A	ENSP00000373854:p.Ala342Thr		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A342T	ENST00000389202.2	37	c.1024	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068438	0.20067	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.58652	0.32	5.47	0.106	0.14540	.	.	.	.	.	T	0.18551	0.0445	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17899	-1.0354	9	0.40728	T	0.16	.	1.583	0.02638	0.5589:0.1382:0.1614:0.1416	.	358;342	Q59H14;Q13349	.;ITAD_HUMAN	T	358;342	ENSP00000373854:A342T	ENSP00000373854:A342T	A	+	1	0	ITGAD	31327261	0.000000	0.05858	0.006000	0.13384	0.573000	0.36030	0.182000	0.16900	-0.221000	0.09973	-0.313000	0.08912	GCA	ITGAD	-	NULL	ENSG00000156886		0.547	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0.00	34	0	G	NM_005353		31419760	+1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.006	A
KAT6A	7994	genome.wustl.edu	37	8	41836217	41836217	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:41836217C>T	ENST00000396930.3	-	7	1529	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	KAT6A_ENST00000485568.1_Missense_Mutation_p.R329Q|KAT6A_ENST00000265713.2_Missense_Mutation_p.R329Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.R329Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	329	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGTATAGCGCCGTTTTATCTG	0.388																																																	0													302.0	294.0	297.0					8																	41836217		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.986G>A	8.37:g.41836217C>T	ENSP00000380136:p.Arg329Gln		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R329Q	ENST00000396930.3	37	c.986	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709925	0.68730	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84873	0.12;0.12;0.12;-1.91	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	D	0.87997	0.6319	N	0.21545	0.675	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.88845	0.3315	10	0.52906	T	0.07	-20.936	19.4191	0.94713	0.0:1.0:0.0:0.0	.	329;329	A5PLL3;Q92794	.;KAT6A_HUMAN	Q	329	ENSP00000265713:R329Q;ENSP00000385888:R329Q;ENSP00000380136:R329Q;ENSP00000430606:R329Q	ENSP00000265713:R329Q	R	-	2	0	KAT6A	41955374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.754000	0.68743	2.572000	0.86782	0.644000	0.83932	CGG	KAT6A	-	superfamily_Znf_FYVE_PHD	ENSG00000083168		0.388	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0.00	98	0	C	NM_006766		41836217	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	35.38	41	23	SNP	1.000	T
KCNAB2	8514	genome.wustl.edu	37	1	6111666	6111666	+	Intron	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:6111666C>A	ENST00000164247.1	+	3	683				KCNAB2_ENST00000378097.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Intron|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000341524.1_Intron|KCNAB2_ENST00000378083.3_Missense_Mutation_p.H24N|KCNAB2_ENST00000458166.2_Intron|KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2						hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGCCCTGCACCCCGTCCG	0.677																																																	0																																										SO:0001627	intron_variant	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.119+9734C>A	1.37:g.6111666C>A			A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.H24N	ENST00000164247.1	37	c.70	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	C	4.523	0.096986	0.08681	.	.	ENSG00000069424	ENST00000378083	T	0.04551	3.6	5.26	5.26	0.73747	.	0.907551	0.09661	N	0.772425	T	0.04543	0.0124	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	9	0.19147	T	0.46	-0.3049	12.908	0.58164	0.1623:0.8377:0.0:0.0	.	24	Q13303-3	.	N	24	ENSP00000367323:H24N	ENSP00000367323:H24N	H	+	1	0	KCNAB2	6034253	0.997000	0.39634	1.000000	0.80357	0.730000	0.41778	2.055000	0.41345	2.463000	0.83235	0.455000	0.32223	CAC	KCNAB2	-	NULL	ENSG00000069424		0.677	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	-	0.00	11	0	C	NM_172130		6111666	+1	tier1	-	no_errors	ENST00000378083	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	A
KCNJ6	3763	genome.wustl.edu	37	21	39086839	39086839	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:39086839G>T	ENST00000609713.1	-	3	1210	c.621C>A	c.(619-621)acC>acA	p.T207T	KCNJ6_ENST00000288309.6_Silent_p.T207T|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	207					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCACTGCATGGGTGGAAAAGA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0													57.0	56.0	57.0					21																	39086839		1943	4163	6106	SO:0001819	synonymous_variant	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.621C>A	21.37:g.39086839G>T			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T207	ENST00000609713.1	37	c.621	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000157542		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	-	0.00	76	0	G	NM_002240		39086839	-1	tier1	-	no_errors	ENST00000288309	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.981	T
KCNK5	8645	genome.wustl.edu	37	6	39159198	39159198	+	Missense_Mutation	SNP	G	G	A	rs200814070		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:39159198G>A	ENST00000359534.3	-	5	1306	c.968C>T	c.(967-969)cCg>cTg	p.P323L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	323					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCCTGGGCCCGGGCCCGTCTC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15292	0.0		0.0	False		,,,				2504	0.0																0													62.0	67.0	66.0					6																	39159198		2203	4299	6502	SO:0001583	missense	0			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.968C>T	6.37:g.39159198G>A	ENSP00000352527:p.Pro323Leu		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.P323L	ENST00000359534.3	37	c.968	CCDS4841.1	6	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.121	-0.655286	0.03480	.	.	ENSG00000164626	ENST00000359534	T	0.19250	2.16	4.59	4.59	0.56863	.	2.173290	0.01316	N	0.010794	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.28605	0.217	B	0.17098	0.017	T	0.12372	-1.0550	10	0.25751	T	0.34	.	10.4126	0.44303	0.0:0.0:0.8055:0.1945	.	323	O95279	KCNK5_HUMAN	L	323	ENSP00000352527:P323L	ENSP00000352527:P323L	P	-	2	0	KCNK5	39267176	0.065000	0.20965	0.038000	0.18304	0.346000	0.29079	1.676000	0.37565	2.837000	0.97791	0.655000	0.94253	CCG	KCNK5	-	NULL	ENSG00000164626		0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1		0.00	22	0	G	NM_003740		39159198	-1			no_errors	ENST00000359534	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.009	A
KCNQ5	56479	genome.wustl.edu	37	6	73751728	73751728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:73751728C>T	ENST00000370398.1	+	3	668	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R187*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	187					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R187*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGCTGTTGTCGATATAGAGG	0.428																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - Nonsense(1)	large_intestine(1)											352.0	319.0	330.0					6																	73751728		2203	4300	6503	SO:0001587	stop_gained	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.559C>T	6.37:g.73751728C>T	ENSP00000359425:p.Arg187*		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R187*	ENST00000370398.1	37	c.559	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.547912	0.98352	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	.	.	.	6.17	6.17	0.99709	.	0.064316	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;187;187;187;187;25;24	.	ENSP00000345055:R187X	R	+	1	2	KCNQ5	73808449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.941000	0.99782	0.655000	0.94253	CGA	KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ	ENSG00000185760		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3		0.00	66	0	C	NM_019842		73751728	+1			no_errors	ENST00000402622	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	1.000	T
KCNS2	3788	genome.wustl.edu	37	8	99440687	99440687	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:99440687G>A	ENST00000287042.4	+	2	830	c.480G>A	c.(478-480)aaG>aaA	p.K160K	KCNS2_ENST00000521839.1_Silent_p.K160K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	160					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACGCCTCCAAGTTCGATGGGC	0.602																																					Pancreas(138;844 2489 9202 24627)												0													62.0	67.0	66.0					8																	99440687		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.480G>A	8.37:g.99440687G>A			A8KAN1	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.K160	ENST00000287042.4	37	c.480	CCDS6279.1	8																																																																																			KCNS2	-	NULL	ENSG00000156486		0.602	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1		0.00	20	0	G	NM_020697		99440687	+1			no_errors	ENST00000287042	ensembl	human	known	74_37	silent	10.71	25	3	SNP	1.000	A
KCP	375616	genome.wustl.edu	37	7	128547229	128547229	+	RNA	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:128547229G>T	ENST00000476647.2	-	0	454				AC025594.1_ENST00000408474.1_RNA			Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						TTTGGCTGCAGCCTAAGGAGA	0.607																																																	0													105.0	106.0	106.0					7																	128547229		692	1591	2283			0			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128547229G>T			Q8NBE0	RNA	SNP	-	NULL	ENST00000476647.2	37	NULL		7																																																																																			KCP	-	-	ENSG00000135253		0.607	KCP-006	KNOWN	basic	processed_transcript	KCP	HGNC	processed_transcript	OTTHUMT00000403051.1	-	0.00	65	0	G	NM_199349		128547229	-1	tier1	-	no_errors	ENST00000297801	ensembl	human	known	74_37	rna	7.14	65	5	SNP	1.000	T
KHNYN	23351	genome.wustl.edu	37	14	24905337	24905337	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:24905337G>T	ENST00000251343.5	+	6	1776	c.1637G>T	c.(1636-1638)cGg>cTg	p.R546L	KHNYN_ENST00000556842.1_Missense_Mutation_p.R546L|KHNYN_ENST00000554268.1_5'UTR|KHNYN_ENST00000553935.1_Missense_Mutation_p.R546L			O15037	KHNYN_HUMAN	KH and NYN domain containing	546							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GACCAGTTCCGGGACCTGGCG	0.512																																																	0													76.0	75.0	76.0					14																	24905337		2203	4300	6503	SO:0001583	missense	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1637G>T	14.37:g.24905337G>T	ENSP00000251343:p.Arg546Leu		Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R546L	ENST00000251343.5	37	c.1637	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662517	0.88251	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.56444	0.46;0.46;0.46	5.43	4.52	0.55395	Ribonuclease Zc3h12a-like (1);	0.058981	0.64402	D	0.000003	T	0.73783	0.3631	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.981	T	0.77627	-0.2517	10	0.87932	D	0	.	11.5376	0.50648	0.0869:0.0:0.9131:0.0	.	587;546	D3DS77;O15037	.;KHNYN_HUMAN	L	546	ENSP00000251343:R546L;ENSP00000451106:R546L;ENSP00000450799:R546L	ENSP00000251343:R546L	R	+	2	0	KHNYN	23975177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.508000	0.60441	2.706000	0.92434	0.563000	0.77884	CGG	KHNYN	-	pfam_RNase_Zc3h12	ENSG00000100441		0.512	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1	-	0.00	63	0	G			24905337	+1	tier1	-	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T
KIAA0368	23392	genome.wustl.edu	37	9	114124436	114124436	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:114124436C>A	ENST00000338205.5	-	49	5613	c.5394G>T	c.(5392-5394)tgG>tgT	p.W1798C	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000259335.4_Missense_Mutation_p.W1976C			Q5VYK3	ECM29_HUMAN	KIAA0368	1804					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCAAACATTCCCACTGTTTAG	0.363																																																	0													67.0	63.0	64.0					9																	114124436		1881	4103	5984	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.5394G>T	9.37:g.114124436C>A	ENSP00000339889:p.Trp1798Cys		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.W1976C	ENST00000338205.5	37	c.5928		9	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123867	0.77436	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66280	-0.2	5.93	5.93	0.95920	.	0.052483	0.85682	D	0.000000	T	0.78194	0.4245	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76804	-0.2824	10	0.54805	T	0.06	-16.5384	20.3465	0.98790	0.0:1.0:0.0:0.0	.	1273	B3KXF2	.	C	1798;1976;1273	ENSP00000259335:W1976C	ENSP00000259335:W1976C	W	-	3	0	KIAA0368	113164257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.053000	0.76641	2.798000	0.96311	0.655000	0.94253	TGG	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.363	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2		0.00	43	0	C	NM_014686		114124436	-1			no_errors	ENST00000259335	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A
KIAA0753	9851	genome.wustl.edu	37	17	6510250	6510250	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:6510250C>T	ENST00000361413.3	-	12	2310	c.1952G>A	c.(1951-1953)aGa>aAa	p.R651K	KIAA0753_ENST00000575027.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R352K|KIAA0753_ENST00000589033.1_Missense_Mutation_p.R107K|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R352K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	651						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTCCTTTGTTCTTCTAGAAGT	0.443																																																	0													171.0	159.0	163.0					17																	6510250		1905	4139	6044	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1952G>A	17.37:g.6510250C>T	ENSP00000355250:p.Arg651Lys		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.R651K	ENST00000361413.3	37	c.1952	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118269	0.37339	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.85861	-2.04;-2.04	4.2	3.21	0.36854	.	0.303914	0.34879	N	0.003618	T	0.77890	0.4198	M	0.66939	2.045	0.34952	D	0.75131	P	0.49961	0.93	B	0.37731	0.257	T	0.79142	-0.1925	10	0.07482	T	0.82	-3.5696	10.6343	0.45556	0.0:0.8042:0.1958:0.0	.	651	Q2KHM9	K0753_HUMAN	K	651;352;107	ENSP00000355250:R651K;ENSP00000444634:R352K	ENSP00000355250:R651K	R	-	2	0	KIAA0753	6450974	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.777000	0.55364	1.037000	0.40024	-0.165000	0.13383	AGA	KIAA0753	-	NULL	ENSG00000198920		0.443	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	-	0.00	40	0	C	NM_014804		6510250	-1	tier1	-	no_errors	ENST00000361413	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T
KIAA1210	57481	genome.wustl.edu	37	X	118221250	118221250	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:118221250C>A	ENST00000402510.2	-	11	3942	c.3943G>T	c.(3943-3945)Gcc>Tcc	p.A1315S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1315										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAACTGGCAGAAACAGGG	0.488																																																	0													138.0	129.0	132.0					X																	118221250		1851	4091	5942	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3943G>T	X.37:g.118221250C>A	ENSP00000384670:p.Ala1315Ser		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.A1315S	ENST00000402510.2	37	c.3943	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.258|3.258	-0.151888|-0.151888	0.06585|0.06585	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10573|.	2.86|.	3.52|3.52	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	T|T	0.23133|0.23133	0.0559|0.0559	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.36837|.	0.571|.	B|.	0.31946|.	0.138|.	T|T	0.22765|0.22765	-1.0207|-1.0207	9|5	0.11485|.	T|.	0.65|.	.|.	3.7998|3.7998	0.08754|0.08754	0.0:0.6005:0.2462:0.1533|0.0:0.6005:0.2462:0.1533	.|.	1315|.	Q9ULL0|.	K1210_HUMAN|.	S|F	1315|721	ENSP00000384670:A1315S|.	ENSP00000384670:A1315S|.	A|C	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118105278|118105278	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.062000|0.062000	0.15995|0.15995	0.210000|0.210000	0.17455|0.17455	0.293000|0.293000	0.22520|0.22520	0.513000|0.513000	0.50165|0.50165	GCC|TGC	KIAA1210	-	NULL	ENSG00000250423		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0.00	55	0	C	NM_020721		118221250	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	A
KIF13A	63971	genome.wustl.edu	37	6	17837812	17837812	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:17837812G>A	ENST00000259711.6	-	10	938	c.833C>T	c.(832-834)tCg>tTg	p.S278L	KIF13A_ENST00000378843.2_Missense_Mutation_p.S278L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S278L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S278L|KIF13A_ENST00000378814.5_Missense_Mutation_p.S278L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	278	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S278L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTTGTAAGCGATCTGTCAAG	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											53.0	45.0	48.0					6																	17837812		1841	4080	5921	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.833C>T	6.37:g.17837812G>A	ENSP00000259711:p.Ser278Leu		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S278L	ENST00000259711.6	37	c.833	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.863574	0.97043	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.64	5.64	0.86602	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.97551	1.0092	10	0.87932	D	0	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	278;278;278;278	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	L	278	ENSP00000368091:S278L;ENSP00000259711:S278L;ENSP00000368103:S278L;ENSP00000368120:S278L;ENSP00000368093:S278L	ENSP00000259711:S278L	S	-	2	0	KIF13A	17945791	1.000000	0.71417	0.862000	0.33874	0.499000	0.33736	9.813000	0.99286	2.812000	0.96745	0.557000	0.71058	TCG	KIF13A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000137177		0.378	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4		0.00	76	0	G			17837812	-1			no_errors	ENST00000259711	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	A
KLHL23	151230	genome.wustl.edu	37	2	170591806	170591806	+	Nonsense_Mutation	SNP	T	T	A	rs148750414	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:170591806T>A	ENST00000392647.2	+	2	526	c.282T>A	c.(280-282)taT>taA	p.Y94*	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Nonsense_Mutation_p.Y94*	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTGTAAATTATGCATACACTT	0.363																																																	0													45.0	48.0	47.0					2																	170591806		2200	4300	6500	SO:0001587	stop_gained	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.282T>A	2.37:g.170591806T>A	ENSP00000376419:p.Tyr94*		Q8N9B9|Q96FT8	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y94*	ENST00000392647.2	37	c.282	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	T	37	6.109801	0.97291	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	.	.	.	5.81	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0778	0.42370	0.0:0.2568:0.0:0.7432	.	.	.	.	X	94	.	ENSP00000272797:Y94X	Y	+	3	2	KLHL23	170300052	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.159000	0.16442	0.124000	0.18369	0.533000	0.62120	TAT	KLHL23	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000213160		0.363	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2		0.00	67	0	T	NM_144711		170591806	+1			no_errors	ENST00000272797	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.998	A
L3MBTL1	26013	genome.wustl.edu	37	20	42169415	42169415	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:42169415T>C	ENST00000427442.2	+	21	2447	c.2288T>C	c.(2287-2289)cTg>cCg	p.L763P	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.L695P|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.L695P|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.L763P|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.L700P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	695					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GTTCAGACCCTGACAGGTTGT	0.552																																																	0													124.0	86.0	99.0					20																	42169415		2203	4300	6503	SO:0001583	missense	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2288T>C	20.37:g.42169415T>C	ENSP00000402107:p.Leu763Pro		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.L763P	ENST00000427442.2	37	c.2288	CCDS46602.2	20	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869962	0.72065	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.57752	0.74;0.74;0.67;0.7;0.64;0.38	4.9	3.78	0.43462	.	0.000000	0.56097	D	0.000021	T	0.78654	0.4317	H	0.95539	3.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.994;0.998	T	0.82118	-0.0615	10	0.87932	D	0	.	10.8853	0.46964	0.0:0.0:0.1583:0.8417	.	763;347;83;695;695	Q9Y468-5;Q9Y468-3;Q6ZWF5;Q9Y468-2;Q9Y468-1	.;.;.;.;.	P	763;763;695;695;700;481;347	ENSP00000402107:L763P;ENSP00000398516:L763P;ENSP00000362227:L695P;ENSP00000403316:L695P;ENSP00000362226:L700P;ENSP00000410139:L481P	ENSP00000362225:L347P	L	+	2	0	L3MBTL1	41602829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.954000	0.70298	0.690000	0.31570	0.455000	0.32223	CTG	L3MBTL1	-	superfamily_SAM/pointed	ENSG00000185513		0.552	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	-	0.00	57	0	T	NM_032107		42169415	+1	tier1	-	no_errors	ENST00000418998	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	C
LATS1	9113	genome.wustl.edu	37	6	150005477	150005477	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:150005477G>T	ENST00000543571.1	-	4	1295	c.748C>A	c.(748-750)Cct>Act	p.P250T	LATS1_ENST00000392273.3_Missense_Mutation_p.P250T|LATS1_ENST00000253339.5_Missense_Mutation_p.P250T|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCTCTTGGAGGTGGTGGAGGA	0.512																																																	0													160.0	148.0	152.0					6																	150005477		2203	4300	6503	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.748C>A	6.37:g.150005477G>T	ENSP00000437550:p.Pro250Thr			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.P250T	ENST00000543571.1	37	c.748	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139806	0.56936	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.90004	0.26;0.26;2.92;-2.6	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000087	D	0.82604	0.5073	L	0.47716	1.5	0.35037	D	0.759385	P;P;B	0.42827	0.791;0.763;0.18	B;B;B	0.41813	0.272;0.367;0.023	T	0.83330	-0.0013	9	.	.	.	.	18.1544	0.89686	0.0:0.0:1.0:0.0	.	102;250;250	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	T	250;250;250;196	ENSP00000437550:P250T;ENSP00000253339:P250T;ENSP00000444678:P250T;ENSP00000441265:P196T	.	P	-	1	0	LATS1	150047170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.064000	0.64338	2.282000	0.76494	0.655000	0.94253	CCT	LATS1	-	NULL	ENSG00000131023		0.512	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4		0.00	71	0	G	NM_004690		150005477	-1			no_errors	ENST00000253339	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
LILRB1	10859	genome.wustl.edu	37	19	55146736	55146736	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:55146736A>T	ENST00000396331.1	+	13	1943	c.1586A>T	c.(1585-1587)gAa>gTa	p.E529V	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.E530V|LILRB1_ENST00000396327.3_Missense_Mutation_p.E530V|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.K504*|LILRB1_ENST00000324602.7_Missense_Mutation_p.E530V|LILRB1_ENST00000434867.2_Missense_Mutation_p.E529V|LILRB1_ENST00000418536.2_Missense_Mutation_p.E513V|LILRB1_ENST00000396332.4_Missense_Mutation_p.E529V|LILRB1_ENST00000396317.1_Missense_Mutation_p.E513V|LILRB1_ENST00000427581.2_Missense_Mutation_p.E579V|LILRB1_ENST00000396321.2_Missense_Mutation_p.E529V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	529					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GATGCCCAGGAAGAAAACCTC	0.617										HNSCC(37;0.09)																																							0													63.0	71.0	68.0					19																	55146736		2203	4299	6502	SO:0001583	missense	0			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1586A>T	19.37:g.55146736A>T	ENSP00000379622:p.Glu529Val		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.K504*	ENST00000396331.1	37	c.1510	CCDS42617.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.99|16.99	3.273913|3.273913	0.59649|0.59649	.|.	.|.	ENSG00000104972|ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315|ENST00000448689	T;T;T;T;T;T;T;T;T;T|.	0.00543|.	6.89;6.85;6.89;6.83;6.8;6.89;6.89;6.68;6.85;6.8|.	1.35|1.35	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|.	0.57489|.	0.2057|.	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	P;B;D;D;D;D|.	0.76494|.	0.885;0.112;0.999;0.992;0.999;0.999|.	P;B;D;P;D;D|.	0.69824|.	0.521;0.05;0.966;0.889;0.966;0.959|.	T|.	0.52990|.	-0.8501|.	9|.	0.87932|0.87932	D|D	0|0	.|.	4.8162|4.8162	0.13367|0.13367	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	513;529;530;529;530;529|.	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6|.	.;.;.;.;.;LIRB1_HUMAN|.	V|X	529;513;529;530;530;529;529;579;513;530|504	ENSP00000379614:E529V;ENSP00000391514:E513V;ENSP00000379622:E529V;ENSP00000379618:E530V;ENSP00000315997:E530V;ENSP00000405243:E529V;ENSP00000379623:E529V;ENSP00000395004:E579V;ENSP00000379610:E513V;ENSP00000379608:E530V|.	ENSP00000315997:E530V|ENSP00000410165:K504X	E|K	+|+	2|1	0|0	LILRB1|LILRB1	59838548|59838548	0.353000|0.353000	0.24904|0.24904	0.020000|0.020000	0.16555|0.16555	0.071000|0.071000	0.16799|0.16799	1.688000|1.688000	0.37690|0.37690	0.864000|0.864000	0.35578|0.35578	0.172000|0.172000	0.16884|0.16884	GAA|AAG	LILRB1	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104972		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	-	0.00	62	0	A			55146736	+1	tier1	-	no_errors	ENST00000421584	ensembl	human	known	74_37	nonsense	27.63	55	21	SNP	0.025	T
LIPI	149998	genome.wustl.edu	37	21	15554181	15554181	+	Splice_Site	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:15554181C>T	ENST00000536861.1	-	4	541		c.e4-1		LIPI_ENST00000344577.2_Splice_Site			Q6XZB0	LIPI_HUMAN	lipase, member I						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGGTCAAGACCTGGAAAGCAA	0.393																																																	0													75.0	72.0	73.0					21																	15554181		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.542-1G>A	21.37:g.15554181C>T			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Splice_Site	SNP	-	e4-1	ENST00000536861.1	37	c.605-1		21	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584318	0.46110	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981;ENST00000400211	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3027	0.94149	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIPI	14476052	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	6.903000	0.75703	2.733000	0.93635	0.655000	0.94253	.	LIPI	-	-	ENSG00000188992		0.393	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding			0.00	64	0	C	NM_198996	Intron	15554181	-1			no_errors	ENST00000344577	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	T
RARA	5914	genome.wustl.edu	37	17	38497581	38497581	+	Intron	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:38497581C>T	ENST00000254066.5	+	3	633				RARA_ENST00000425707.3_Intron|CTD-2267D19.2_ENST00000581080.1_RNA|RARA_ENST00000394089.2_Intron|RARA_ENST00000394086.3_5'Flank|RARA_ENST00000394081.3_5'Flank	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha						apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCCCCTCTGCCTGTGTTTGT	0.657			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																			Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	0													15.0	17.0	17.0					17																	38497581		692	1591	2283	SO:0001627	intron_variant	0			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.179-6987C>T	17.37:g.38497581C>T			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	RNA	SNP	-	NULL	ENST00000254066.5	37	NULL	CCDS11366.1	17																																																																																			CTD-2267D19.2	-	-	ENSG00000265666		0.657	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929693	Clone_based_vega_gene	protein_coding	OTTHUMT00000257136.2	-	0.00	38	0	C			38497581	-1	tier1	-	no_errors	ENST00000581080	ensembl	human	known	74_37	rna	9.76	37	4	SNP	0.000	T
BASP1	10409	genome.wustl.edu	37	5	17216508	17216508	+	5'Flank	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:17216508G>A	ENST00000322611.3	+	0	0				AC091878.1_ENST00000399760.2_RNA	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1						diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						ACGATGTCACGTTACGTTATT	0.453											OREG0016536	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061		5.37:g.17216508G>A	Exception_encountered	716	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	RNA	SNP	-	NULL	ENST00000322611.3	37	NULL	CCDS3888.1	5																																																																																			AC091878.1	-	-	ENSG00000215196		0.453	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC285696	Clone_based_vega_gene	protein_coding	OTTHUMT00000253716.2	-	0.00	33	0	G			17216508	-1	tier1	-	no_errors	ENST00000399760	ensembl	human	known	74_37	rna	21.95	32	9	SNP	0.000	A
LRP1B	53353	genome.wustl.edu	37	2	141079538	141079538	+	Missense_Mutation	SNP	G	G	T	rs375754113		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:141079538G>T	ENST00000389484.3	-	82	13605	c.12634C>A	c.(12634-12636)Ctg>Atg	p.L4212M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4212					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACCTAACAGGCTGTCATCA	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													74.0	82.0	79.0					2																	141079538		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12634C>A	2.37:g.141079538G>T	ENSP00000374135:p.Leu4212Met		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4212M	ENST00000389484.3	37	c.12634	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	g	14.44	2.534680	0.45073	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90385	-2.66	5.19	1.09	0.20402	Growth factor, receptor (1);	0.758190	0.11895	N	0.519256	D	0.82834	0.5123	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.69363	-0.5165	10	0.46703	T	0.11	.	2.0197	0.03506	0.1385:0.2478:0.3587:0.2549	.	4212	Q9NZR2	LRP1B_HUMAN	M	4212;4150	ENSP00000374135:L4212M	ENSP00000374135:L4212M	L	-	1	2	LRP1B	140796008	0.001000	0.12720	0.677000	0.29947	0.991000	0.79684	0.006000	0.13152	-0.016000	0.14127	0.650000	0.86243	CTG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	91	0	G	NM_018557		141079538	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.003	T
LSM11	134353	genome.wustl.edu	37	5	157181018	157181018	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:157181018A>T	ENST00000286307.5	+	3	651	c.595A>T	c.(595-597)Act>Tct	p.T199S		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	199	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.T199A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAGGCACTTACTGATGTGGA	0.403																																																	1	Substitution - Missense(1)	lung(1)											128.0	112.0	117.0					5																	157181018		2203	4300	6503	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.595A>T	5.37:g.157181018A>T	ENSP00000286307:p.Thr199Ser		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.T199S	ENST00000286307.5	37	c.595	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	.	19.03	3.747969	0.69533	.	.	ENSG00000155858	ENST00000286307	T	0.39406	1.08	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.119448	0.64402	D	0.000009	T	0.44180	0.1281	N	0.20986	0.625	0.37189	D	0.90385	D	0.61697	0.99	P	0.59487	0.858	T	0.49597	-0.8923	10	0.36615	T	0.2	-9.4563	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	199	P83369	LSM11_HUMAN	S	199	ENSP00000286307:T199S	ENSP00000286307:T199S	T	+	1	0	LSM11	157113596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.371000	0.80710	0.533000	0.62120	ACT	LSM11	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.403	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2		0.00	91	0	A	NM_173491		157181018	+1			no_errors	ENST00000286307	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39951437	39951437	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:39951437T>C	ENST00000372915.3	+	97	22225	c.22138T>C	c.(22138-22140)Tcc>Ccc	p.S7380P	MACF1_ENST00000361689.2_Missense_Mutation_p.S5422P|MACF1_ENST00000289893.4_Missense_Mutation_p.S5930P|MACF1_ENST00000539005.1_Missense_Mutation_p.S5292P|MACF1_ENST00000567887.1_Missense_Mutation_p.S7584P|MACF1_ENST00000545844.1_Missense_Mutation_p.S5422P|MACF1_ENST00000317713.7_Missense_Mutation_p.S5422P|MACF1_ENST00000564288.1_Missense_Mutation_p.S7547P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7380	C-terminal tail. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCACTGCCTCCCCCAGGAC	0.512																																																	0													68.0	70.0	69.0					1																	39951437		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.22138T>C	1.37:g.39951437T>C	ENSP00000362006:p.Ser7380Pro		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.S5422P	ENST00000372915.3	37	c.16264		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.13|13.13	2.146444|2.146444	0.37923|0.37923	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.64803	.|-0.08;-0.03;-0.08;-0.12;0.09;1.07	5.7|5.7	3.26|3.26	0.37387|0.37387	.|.	.|0.114420	.|0.38897	.|N	.|0.001527	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;B;D;P	.|0.61697	.|0.99;0.003;0.99;0.593	.|P;B;P;B	.|0.55615	.|0.78;0.006;0.78;0.243	T|T	0.58763|0.58763	-0.7579|-0.7579	5|9	.|.	.|.	.|.	.|.	5.0837|5.0837	0.14671|0.14671	0.3107:0.0857:0.0:0.6036|0.3107:0.0857:0.0:0.6036	.|.	.|7380;5422;5930;359	.|Q9UPN3;F8W8Q1;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;MACF4_HUMAN;.	P|P	4425;446|5422;7380;5422;5422;5292;5930;336	.|ENSP00000439537:S5422P;ENSP00000362006:S7380P;ENSP00000354573:S5422P;ENSP00000313438:S5422P;ENSP00000444364:S5292P;ENSP00000289893:S5930P	.|.	L|S	+|+	2|1	0|0	MACF1|MACF1	39724024|39724024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.574000|0.574000	0.36063|0.36063	2.955000|2.955000	0.49121|0.49121	0.991000|0.991000	0.38814|0.38814	-0.256000|-0.256000	0.11100|0.11100	CTC|TCC	MACF1	-	NULL	ENSG00000127603		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	61	0	T	NM_033044		39951437	+1			no_errors	ENST00000317713	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.999	C
MACROD2	140733	genome.wustl.edu	37	20	15967423	15967423	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:15967423A>G	ENST00000310348.4	+	14	1037	c.1037A>G	c.(1036-1038)cAg>cGg	p.Q346R	MACROD2_ENST00000402914.1_Missense_Mutation_p.Q111R|MACROD2_ENST00000217246.4_Missense_Mutation_p.Q346R|MACROD2_ENST00000378058.3_Missense_Mutation_p.Q111R|MACROD2_ENST00000407045.3_5'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	346	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACAGAATCGCAGAGCTCATAT	0.318																																																	0													71.0	67.0	69.0					20																	15967423		2203	4300	6503	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1037A>G	20.37:g.15967423A>G	ENSP00000309809:p.Gln346Arg		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.Q346R	ENST00000310348.4	37	c.1037	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895650	0.33442	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.51817	2.27;2.25;0.69;0.69	5.92	4.81	0.61882	.	0.133762	0.34932	N	0.003569	T	0.47340	0.1440	L	0.47716	1.5	0.22827	N	0.998683	P;P	0.46656	0.813;0.882	B;P	0.46825	0.328;0.528	T	0.41179	-0.9523	10	0.54805	T	0.06	-3.2654	11.502	0.50444	0.8441:0.1559:0.0:0.0	.	346;346	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	R	346;346;111;111	ENSP00000217246:Q346R;ENSP00000309809:Q346R;ENSP00000385290:Q111R;ENSP00000367297:Q111R	ENSP00000217246:Q346R	Q	+	2	0	MACROD2	15915423	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.722000	0.54948	1.050000	0.40346	0.477000	0.44152	CAG	MACROD2	-	NULL	ENSG00000172264		0.318	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0.00	46	0	A	NM_080676		15967423	+1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G
MAN2A2	4122	genome.wustl.edu	37	15	91449976	91449976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:91449976delC	ENST00000559717.1	+	7	1301	c.842delC	c.(841-843)accfs	p.T281fs	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Frame_Shift_Del_p.T281fs			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	281					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCAGGTGCAACCCCCCGCTCT	0.652																																																	0													36.0	37.0	36.0					15																	91449976		2198	4298	6496	SO:0001589	frameshift_variant	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.842delC	15.37:g.91449976delC	ENSP00000452948:p.Thr281fs		A6NH12|A8K1E8|Q13754	Frame_Shift_Del	DEL	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R283fs	ENST00000559717.1	37	c.842	CCDS32332.1	15																																																																																			MAN2A2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000196547		0.652	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5		0.00	23	0	C	NM_006122		91449976	+1	tier1		no_errors	ENST00000360468	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.980	-
MAN2B1	4125	genome.wustl.edu	37	19	12775706	12775706	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:12775706C>A	ENST00000456935.2	-	4	570	c.530G>T	c.(529-531)cGc>cTc	p.R177L	WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R177L|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R174L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	177					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R177H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCCAGAAAGCGCAGCCCAAG	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											106.0	75.0	86.0					19																	12775706		2203	4300	6503	SO:0001583	missense	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.530G>T	19.37:g.12775706C>A	ENSP00000395473:p.Arg177Leu		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R177L	ENST00000456935.2	37	c.530	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526007	0.64860	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.81163	-1.46;-1.46	5.69	0.651	0.17817	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.288126	0.25386	N	0.031057	T	0.82245	0.4995	M	0.64260	1.97	0.45464	D	0.998431	D;D	0.57571	0.98;0.966	P;P	0.55923	0.681;0.787	T	0.80821	-0.1211	10	0.72032	D	0.01	-26.7853	8.5874	0.33666	0.0:0.5784:0.0:0.4216	.	177;177	G5E928;O00754	.;MA2B1_HUMAN	L	177;116;177	ENSP00000395473:R177L;ENSP00000221363:R177L	ENSP00000221363:R177L	R	-	2	0	MAN2B1	12636706	0.998000	0.40836	0.986000	0.45419	0.952000	0.60782	1.935000	0.40173	0.354000	0.24105	-0.333000	0.08304	CGC	MAN2B1	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000104774		0.627	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1		0.00	37	0	C			12775706	-1			no_errors	ENST00000456935	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	A
MAP2	4133	genome.wustl.edu	37	2	210517948	210517948	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:210517948G>A	ENST00000360351.4	+	4	560	c.54G>A	c.(52-54)ccG>ccA	p.P18P	MAP2_ENST00000199940.6_Silent_p.P18P|MAP2_ENST00000447185.1_Silent_p.P18P|MAP2_ENST00000392194.1_Silent_p.P18P|MAP2_ENST00000361559.4_Silent_p.P18P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	18					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P18P(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCTCAGCACCGCTAACAGAGG	0.493																																					Pancreas(27;423 979 28787 29963)												2	Substitution - coding silent(2)	endometrium(2)											95.0	68.0	77.0					2																	210517948		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.54G>A	2.37:g.210517948G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.P18	ENST00000360351.4	37	c.54	CCDS2384.1	2																																																																																			MAP2	-	NULL	ENSG00000078018		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0.00	100	0	G	NM_001039538		210517948	+1			no_errors	ENST00000360351	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.012	A
MARCH4	57574	genome.wustl.edu	37	2	217234789	217234789	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:217234789G>A	ENST00000273067.4	-	1	1961	c.195C>T	c.(193-195)caC>caT	p.H65H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	65	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGGGTCGCCGTGCATGGGCA	0.692																																																	0													6.0	7.0	6.0					2																	217234789		2153	4177	6330	SO:0001819	synonymous_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.195C>T	2.37:g.217234789G>A			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.H65	ENST00000273067.4	37	c.195	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.692	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0.00	46	0	G	NM_020814		217234789	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	21.62	29	8	SNP	1.000	A
MARCH9	92979	genome.wustl.edu	37	12	58150746	58150746	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:58150746C>T	ENST00000266643.5	+	2	823	c.392C>T	c.(391-393)tCa>tTa	p.S131L	MARCH9_ENST00000548358.1_5'Flank	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	131					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGCGACGGCTCAGTGCGCTGC	0.662											OREG0021952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21.0	19.0	19.0					12																	58150746		2201	4300	6501	SO:0001583	missense	0			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.392C>T	12.37:g.58150746C>T	ENSP00000266643:p.Ser131Leu	1028	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S131L	ENST00000266643.5	37	c.392	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.578988	0.96565	.	.	ENSG00000139266	ENST00000266643	T	0.50813	0.73	5.01	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	H	0.97214	3.96	0.80722	D	1	D	0.60160	0.987	P	0.61275	0.886	D	0.86578	0.1852	10	0.87932	D	0	.	17.2362	0.86999	0.0:1.0:0.0:0.0	.	131	Q86YJ5	MARH9_HUMAN	L	131	ENSP00000266643:S131L	ENSP00000266643:S131L	S	+	2	0	MARCH9	56437013	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	7.651000	0.83577	2.592000	0.87571	0.561000	0.74099	TCA	MARCH9	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000139266		0.662	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	HGNC	protein_coding	OTTHUMT00000409244.1		0.00	50	0	C	NM_138396		58150746	+1			no_errors	ENST00000266643	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
MCM2	4171	genome.wustl.edu	37	3	127325075	127325075	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:127325075C>T	ENST00000265056.7	+	5	1032	c.788C>T	c.(787-789)gCc>gTc	p.A263V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	263					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GATGAGGCTGCCCTGGAGGTG	0.617																																																	0													167.0	143.0	151.0					3																	127325075		2203	4300	6503	SO:0001583	missense	0			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.788C>T	3.37:g.127325075C>T	ENSP00000265056:p.Ala263Val		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase	p.A263V	ENST00000265056.7	37	c.788	CCDS3043.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.137259|5.137259	0.94517|0.94517	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.09163|.	3.01|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Nucleic acid-binding, OB-fold-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78629|0.78629	0.4313|0.4313	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;B;P|.	0.71674|.	0.998;0.343;0.598|.	D;B;B|.	0.76071|.	0.987;0.176;0.282|.	T|T	0.79914|0.79914	-0.1602|-0.1602	10|5	0.66056|.	D|.	0.02|.	-34.8937|-34.8937	18.5426|18.5426	0.91035|0.91035	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	244;133;263|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	V|S	263;167;244|126	ENSP00000265056:A263V|.	ENSP00000265056:A263V|.	A|P	+|+	2|1	0|0	MCM2|MCM2	128807765|128807765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	6.003000|6.003000	0.70701|0.70701	2.363000|2.363000	0.80096|0.80096	0.591000|0.591000	0.81541|0.81541	GCC|CCC	MCM2	-	superfamily_NA-bd_OB-fold	ENSG00000073111		0.617	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1		0.00	71	0	C			127325075	+1			no_errors	ENST00000265056	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
MCM3AP	8888	genome.wustl.edu	37	21	47704296	47704296	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:47704296C>A	ENST00000397708.1	-	2	1159	c.905G>T	c.(904-906)aGg>aTg	p.R302M	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R302M|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	302	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCCATGTCTCCTTGGGGAGCG	0.587																																																	0													96.0	102.0	100.0					21																	47704296		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.905G>T	21.37:g.47704296C>A	ENSP00000380820:p.Arg302Met		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R302M	ENST00000397708.1	37	c.905	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765831	0.69878	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18810	2.19;2.19	5.42	4.53	0.55603	.	0.218911	0.42682	D	0.000663	T	0.23649	0.0572	L	0.32530	0.975	0.36395	D	0.862767	D	0.56521	0.976	P	0.53185	0.72	T	0.08046	-1.0741	10	0.62326	D	0.03	-29.0513	8.3613	0.32361	0.1554:0.7661:0.0:0.0786	.	302	O60318	MCM3A_HUMAN	M	302	ENSP00000380820:R302M;ENSP00000291688:R302M	ENSP00000291688:R302M	R	-	2	0	MCM3AP	46528724	0.996000	0.38824	0.996000	0.52242	0.936000	0.57629	1.878000	0.39608	2.537000	0.85549	0.563000	0.77884	AGG	MCM3AP	-	NULL	ENSG00000160294		0.587	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	-	0.00	60	0	C	NM_003906		47704296	-1	tier1	-	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	46.34	22	19	SNP	0.938	A
MEGF8	1954	genome.wustl.edu	37	19	42873013	42873013	+	Missense_Mutation	SNP	C	C	T	rs372350131		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:42873013C>T	ENST00000251268.6	+	37	6500	c.6500C>T	c.(6499-6501)cCg>cTg	p.P2167L	MEGF8_ENST00000334370.4_Missense_Mutation_p.P2100L|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2167	PSI 7.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTGGGCGTCCGGGGGCCTCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17485	0.0		0.0	False		,,,				2504	0.001																0								C	LEU/PRO	0,4406		0,0,2203	74.0	85.0	82.0		6299	4.8	0.8	19		82	2,8598	2.2+/-6.3	0,2,4298	no	missense	MEGF8	NM_001410.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	2100/2779	42873013	2,13004	2203	4300	6503	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6500C>T	19.37:g.42873013C>T	ENSP00000251268:p.Pro2167Leu		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.P2167L	ENST00000251268.6	37	c.6500		19	.	.	.	.	.	.	.	.	.	.	C	0.247	-1.009571	0.02095	0.0	2.33E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21543	2.0;2.0	4.76	4.76	0.60689	.	0.644418	0.14934	N	0.289912	T	0.14270	0.0345	N	0.19112	0.55	0.20307	N	0.999919	P;P	0.41673	0.618;0.759	B;B	0.36504	0.044;0.226	T	0.12553	-1.0543	10	0.27785	T	0.31	-3.8695	15.0698	0.72026	0.0:1.0:0.0:0.0	.	2167;2100	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	L	2100;2167	ENSP00000334219:P2100L;ENSP00000251268:P2167L	ENSP00000251268:P2167L	P	+	2	0	MEGF8	47564853	0.002000	0.14202	0.842000	0.33263	0.070000	0.16714	1.456000	0.35201	2.375000	0.81037	0.561000	0.74099	CCG	MEGF8	-	smart_Plexin-like_fold	ENSG00000105429		0.642	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0.00	81	0	C	NM_001410		42873013	+1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.138	T
MEIS1	4211	genome.wustl.edu	37	2	66796256	66796256	+	3'UTR	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:66796256C>T	ENST00000272369.9	+	0	1646				MEIS1_ENST00000398506.2_Intron|MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000495021.2_3'UTR|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000407092.2_Intron|MEIS1_ENST00000409517.1_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1						angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ATCTAGTTAACCAATCGCAAA	0.423																																																	0													196.0	183.0	187.0					2																	66796256		1920	4121	6041	SO:0001624	3_prime_UTR_variant	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.*16C>T	2.37:g.66796256C>T			A8MV50	RNA	SNP	-	NULL	ENST00000272369.9	37	NULL	CCDS46309.1	2																																																																																			MEIS1	-	-	ENSG00000143995		0.423	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	-	0.00	91	0	C	NM_002398		66796256	+1	tier1	-	no_errors	ENST00000409517	ensembl	human	known	74_37	rna	23.16	73	22	SNP	1.000	T
MICAL3	57553	genome.wustl.edu	37	22	18347478	18347478	+	Intron	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:18347478A>G	ENST00000441493.2	-	19	2958				MICAL3_ENST00000429452.1_Missense_Mutation_p.L1055P|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.L1055P|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000383094.3_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACCTCCGACAGGCCATAGAG	0.592																																																	0													29.0	30.0	30.0					22																	18347478		1568	3582	5150	SO:0001627	intron_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2605+186T>C	22.37:g.18347478A>G			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.L1055P	ENST00000441493.2	37	c.3164	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800919	0.31869	.	.	ENSG00000093100	ENST00000429452	T	0.70869	-0.52	5.81	5.81	0.92471	.	.	.	.	.	T	0.61961	0.2389	.	.	.	0.40598	D	0.981558	P	0.37864	0.61	B	0.34991	0.193	T	0.67558	-0.5640	8	0.72032	D	0.01	.	9.6907	0.40127	0.741:0.0:0.0:0.259	.	1055	B2RXJ5	.	P	1055	ENSP00000414846:L1055P	ENSP00000414846:L1055P	L	-	2	0	XXbac-B461K10.4	16727478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.718000	0.54919	2.210000	0.71456	0.533000	0.62120	CTG	MICAL3	-	NULL	ENSG00000243156		0.592	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0.00	53	0	A			18347478	-1	tier1	-	no_errors	ENST00000429452	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G
MRPL3	11222	genome.wustl.edu	37	3	131181670	131181670	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:131181670G>T	ENST00000264995.3	-	10	1091	c.944C>A	c.(943-945)cCa>cAa	p.P315Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.P342Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	315					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGTAGGGAATGGTAGATTTTT	0.398																																																	0													106.0	109.0	108.0					3																	131181670		2203	4300	6503	SO:0001583	missense	0			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.944C>A	3.37:g.131181670G>T	ENSP00000264995:p.Pro315Gln		Q6IBT2	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	p.P315Q	ENST00000264995.3	37	c.944	CCDS3071.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441279	0.83993	.	.	ENSG00000114686	ENST00000264995;ENST00000425847	T;T	0.48201	0.82;0.82	5.26	5.26	0.73747	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.977	T	0.76473	-0.2946	10	0.72032	D	0.01	-10.7494	17.6402	0.88133	0.0:0.0:1.0:0.0	.	342;315	E7ETU7;P09001	.;RM03_HUMAN	Q	315;342	ENSP00000264995:P315Q;ENSP00000398536:P342Q	ENSP00000264995:P315Q	P	-	2	0	MRPL3	132664360	1.000000	0.71417	0.810000	0.32431	0.921000	0.55340	7.689000	0.84165	2.442000	0.82660	0.585000	0.79938	CCA	MRPL3	-	superfamily_Transl_B-barrel	ENSG00000114686		0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	-	0.00	54	0	G	NM_007208		131181670	-1	tier1	-	no_errors	ENST00000264995	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T
MS4A6E	245802	genome.wustl.edu	37	11	60105265	60105265	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:60105265G>A	ENST00000300182.4	+	2	264	c.199G>A	c.(199-201)Ggt>Agt	p.G67S		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	67						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCCCTGGTGGGTTTCATTCT	0.483																																																	0													172.0	157.0	162.0					11																	60105265		2203	4300	6503	SO:0001583	missense	0			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.199G>A	11.37:g.60105265G>A	ENSP00000300182:p.Gly67Ser		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	pfam_CD20-like	p.G67S	ENST00000300182.4	37	c.199	CCDS7984.1	11	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340771	0.41498	.	.	ENSG00000166926	ENST00000300182	T	0.04275	3.66	2.03	1.01	0.19927	.	0.615310	0.16138	N	0.227850	T	0.15825	0.0381	M	0.76170	2.325	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.04495	-1.0947	10	0.87932	D	0	.	5.5525	0.17099	0.0:0.0:0.6749:0.3251	.	67	Q96DS6	M4A6E_HUMAN	S	67	ENSP00000300182:G67S	ENSP00000300182:G67S	G	+	1	0	MS4A6E	59861841	0.613000	0.27009	0.017000	0.16124	0.067000	0.16453	1.435000	0.34969	0.148000	0.19059	0.195000	0.17529	GGT	MS4A6E	-	pfam_CD20-like	ENSG00000166926		0.483	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6E	HGNC	protein_coding	OTTHUMT00000394296.1	-	0.00	100	0	G			60105265	+1	tier1	-	no_errors	ENST00000300182	ensembl	human	known	74_37	missense	27.36	77	29	SNP	0.005	A
MS4A14	84689	genome.wustl.edu	37	11	60183805	60183805	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:60183805T>C	ENST00000300187.6	+	5	1641	c.1364T>C	c.(1363-1365)aTg>aCg	p.M455T	MS4A14_ENST00000531783.1_Missense_Mutation_p.M488T|MS4A14_ENST00000531787.1_Missense_Mutation_p.M343T|MS4A14_ENST00000395005.2_Missense_Mutation_p.M438T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	455	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATTTTACAAATGTCATATCAA	0.398																																																	0													62.0	64.0	63.0					11																	60183805		2203	4299	6502	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1364T>C	11.37:g.60183805T>C	ENSP00000300187:p.Met455Thr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.M455T	ENST00000300187.6	37	c.1364	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	T	3.469	-0.108342	0.06924	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.31769	1.48;2.7;1.49;3.06	4.13	0.0425	0.14217	.	3.834450	0.01040	N	0.004295	T	0.21307	0.0513	L	0.36672	1.1	0.09310	N	1	B;B	0.22683	0.073;0.044	B;B	0.21360	0.034;0.015	T	0.07616	-1.0763	10	0.18276	T	0.48	0.1409	0.981	0.01436	0.192:0.1103:0.1984:0.4993	.	438;455	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	343;455;438;488	ENSP00000437222:M343T;ENSP00000300187:M455T;ENSP00000378453:M438T;ENSP00000433761:M488T	ENSP00000300187:M455T	M	+	2	0	MS4A14	59940381	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.568000	0.23623	0.203000	0.20529	-0.344000	0.07964	ATG	MS4A14	-	NULL	ENSG00000166928		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	-	0.00	58	0	T			60183805	+1	tier1	-	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.000	C
MT-CO3	4514	genome.wustl.edu	37	M	7465	7466	+	5'Flank	INS	-	-	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrM:7465_7466insC	ENST00000362079.2	+	0	0				MT-ATP6_ENST00000361899.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III						aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						gaaggaatcgaaccccccaaag	0.411																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414			M.37:g.7465_7466insC	Exception_encountered		Q14Y83	RNA	INS	-	NULL	ENST00000362079.2	37	NULL		MT																																																																																			MT-TS1	-	-	ENSG00000210151		0.411	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	MT-TS1	HGNC	protein_coding			0.00	93	0	0	YP_003024032		7466	-1			no_errors	ENST00000387416	ensembl	human	known	74_37	rna	11.41	334	43	INS	NULL	C
MTOR	2475	genome.wustl.edu	37	1	11184628	11184628	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:11184628G>A	ENST00000361445.4	-	47	6665	c.6589C>T	c.(6589-6591)Cgt>Tgt	p.R2197C	MTOR_ENST00000376838.1_Missense_Mutation_p.R402C	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2197	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGCATCACACGCTCATCCTGG	0.498																																																	0													133.0	113.0	120.0					1																	11184628		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6589C>T	1.37:g.11184628G>A	ENSP00000354558:p.Arg2197Cys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2197C	ENST00000361445.4	37	c.6589	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875614	0.72180	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77750	-1.12;-1.12	5.8	3.8	0.43715	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95473	0.8553	10	0.87932	D	0	-24.0327	13.1814	0.59657	0.0:0.0:0.5527:0.4473	.	2197	P42345	MTOR_HUMAN	C	2197;402	ENSP00000354558:R2197C;ENSP00000366034:R402C	ENSP00000354558:R2197C	R	-	1	0	MTOR	11107215	0.999000	0.42202	0.233000	0.24025	0.965000	0.64279	2.887000	0.48586	1.399000	0.46721	0.650000	0.86243	CGT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000198793		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1		0.00	43	0	G	NM_004958		11184628	-1			no_errors	ENST00000361445	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.963	A
MUC16	94025	genome.wustl.edu	37	19	9061099	9061099	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:9061099C>T	ENST00000397910.4	-	3	26550	c.26347G>A	c.(26347-26349)Gca>Aca	p.A8783T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8785	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCATTTCTGCTGATCCTGTC	0.507																																																	0													147.0	133.0	138.0					19																	9061099		1985	4164	6149	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26347G>A	19.37:g.9061099C>T	ENSP00000381008:p.Ala8783Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A8783T	ENST00000397910.4	37	c.26347	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	7.834	0.720402	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.85	-2.05	0.07321	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	.	.	.	B	0.19817	0.039	B	0.23574	0.047	T	0.42396	-0.9454	8	0.87932	D	0	.	5.3	0.15773	0.0:0.4833:0.0:0.5167	.	8783	B5ME49	.	T	8783	ENSP00000381008:A8783T	ENSP00000381008:A8783T	A	-	1	0	MUC16	8922099	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-5.148000	0.00146	-0.418000	0.07450	0.298000	0.19748	GCA	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	48	0	C	NM_024690		9061099	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T
MYH15	22989	genome.wustl.edu	37	3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507																																																	0													156.0	151.0	153.0					3																	108133184		2071	4208	6279	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4100C>A	3.37:g.108133184G>T	ENSP00000273353:p.Ala1367Asp			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.A1367D	ENST00000273353.3	37	c.4100	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	MYH15	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0.00	60	0	G	XM_036988		108133184	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.736	T
MYO15A	51168	genome.wustl.edu	37	17	18051429	18051429	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:18051429G>T	ENST00000205890.5	+	31	6934	c.6596G>T	c.(6595-6597)gGc>gTc	p.G2199V	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2199	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAACAGCAGGGCTCGGGGGCT	0.632																																																	0													41.0	45.0	44.0					17																	18051429		1978	4151	6129	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6596G>T	17.37:g.18051429G>T	ENSP00000205890:p.Gly2199Val		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.G2199V	ENST00000205890.5	37	c.6596	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935470	0.52866	.	.	ENSG00000091536	ENST00000205890	D	0.93133	-3.17	4.24	3.25	0.37280	MyTH4 domain (3);	.	.	.	.	D	0.88123	0.6352	L	0.31664	0.95	0.80722	D	1	P	0.42357	0.777	B	0.39706	0.307	D	0.85251	0.1044	9	0.31617	T	0.26	.	13.0629	0.59018	0.0:0.0:0.8378:0.1622	.	2199	Q9UKN7	MYO15_HUMAN	V	2199	ENSP00000205890:G2199V	ENSP00000205890:G2199V	G	+	2	0	MYO15A	17992154	1.000000	0.71417	0.949000	0.38748	0.964000	0.63967	5.863000	0.69568	0.988000	0.38734	0.655000	0.94253	GGC	MYO15A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000091536		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0.00	70	0	G	NM_016239		18051429	+1			no_errors	ENST00000205890	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.995	T
NAPG	8774	genome.wustl.edu	37	18	10548971	10548971	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:10548971G>T	ENST00000322897.6	+	11	742	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	NAPG_ENST00000542979.1_Missense_Mutation_p.G143W	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	225					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						CAGCATCCCTGGGTTCAATGG	0.502																																																	0													125.0	122.0	123.0					18																	10548971		2050	4207	6257	SO:0001583	missense	0			U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.673G>T	18.37:g.10548971G>T	ENSP00000324628:p.Gly225Trp		B4DFC9|Q9BUV1	Missense_Mutation	SNP	NULL	p.G225W	ENST00000322897.6	37	c.673	CCDS45827.1	18	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728737	0.69074	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.76839	-1.05;-1.05	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88730	0.3236	10	0.87932	D	0	-9.9788	19.7244	0.96157	0.0:0.0:1.0:0.0	.	225	Q99747	SNAG_HUMAN	W	225;143	ENSP00000324628:G225W;ENSP00000442849:G143W	ENSP00000324628:G225W	G	+	1	0	NAPG	10538971	1.000000	0.71417	0.471000	0.27229	0.340000	0.28889	9.414000	0.97362	2.659000	0.90383	0.655000	0.94253	GGG	NAPG	-	NULL	ENSG00000134265		0.502	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPG	HGNC	protein_coding	OTTHUMT00000444873.1	-	0.00	56	0	G	NM_003826		10548971	+1	tier1	-	no_errors	ENST00000322897	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
NASP	4678	genome.wustl.edu	37	1	46073618	46073618	+	Silent	SNP	A	A	G	rs200936475	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:46073618A>G	ENST00000350030.3	+	6	1122	c.1035A>G	c.(1033-1035)ccA>ccG	p.P345P	NASP_ENST00000402363.3_Silent_p.P347P|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Silent_p.P281P	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	345	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAGTCACCAGAGGTGACAA	0.537																																																	0													72.0	78.0	76.0					1																	46073618		2203	4300	6503	SO:0001819	synonymous_variant	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1035A>G	1.37:g.46073618A>G			A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P347	ENST00000350030.3	37	c.1041	CCDS524.1	1																																																																																			NASP	-	NULL	ENSG00000132780		0.537	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2		0.00	62	0	A	NM_002482		46073618	+1			no_errors	ENST00000402363	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.001	G
NCOR2	9612	genome.wustl.edu	37	12	124824739	124824740	+	Frame_Shift_Ins	INS	-	-	GCCG			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:124824739_124824740insGCCG	ENST00000405201.1	-	37	5499_5500	c.5499_5500insCGGC	c.(5497-5502)cagagcfs	p.S1834fs	NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.S1824fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.S1824fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.S1841fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.S1395fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.S1825fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1845					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ctgccgctgctctgctCTGTAC	0.713																																																	0																																										SO:0001589	frameshift_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5499_5500insCGGC	12.37:g.124824739_124824740insGCCG	ENSP00000384018:p.Ser1834fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1840fs	ENST00000405201.1	37	c.5521_5520	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.713	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0.00	31	0	-	NM_006312		124824740	-1	tier1		no_errors	ENST00000356219	ensembl	human	known	74_37	frame_shift_ins	12.20	36	5	INS	1.000:1.000	GCCG
NEDD9	4739	genome.wustl.edu	37	6	11190694	11190694	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:11190694C>T	ENST00000379446.5	-	5	1574	c.1408G>A	c.(1408-1410)Gtt>Att	p.V470I	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.V470I	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	470					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCATTTGCAACAGCTCCCTTG	0.507																																																	0													77.0	75.0	75.0					6																	11190694		2203	4300	6503	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1408G>A	6.37:g.11190694C>T	ENSP00000368759:p.Val470Ile		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.V470I	ENST00000379446.5	37	c.1408	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207800	0.06180	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.23950	1.88;1.88	5.58	1.64	0.23874	Serine rich protein interaction (1);	0.907430	0.09622	N	0.777442	T	0.06781	0.0173	L	0.50333	1.59	0.09310	N	0.999999	B;B;B	0.16802	0.007;0.019;0.004	B;B;B	0.20577	0.006;0.03;0.005	T	0.41734	-0.9492	10	0.25106	T	0.35	-0.1579	1.6583	0.02786	0.1293:0.4453:0.1407:0.2847	.	470;470;470	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	I	470	ENSP00000368759:V470I;ENSP00000422871:V470I	ENSP00000368759:V470I	V	-	1	0	NEDD9	11298680	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.396000	0.20867	0.002000	0.14630	0.655000	0.94253	GTT	NEDD9	-	pfam_Serine_rich	ENSG00000111859		0.507	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	-	0.00	71	0	C	NM_006403		11190694	-1	tier1	-	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.000	T
NEU4	129807	genome.wustl.edu	37	2	242757506	242757506	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:242757506A>G	ENST00000391969.2	+	5	1298	c.587A>G	c.(586-588)cAc>cGc	p.H196R	NEU4_ENST00000405370.1_Missense_Mutation_p.H196R|NEU4_ENST00000325935.6_Missense_Mutation_p.H209R|NEU4_ENST00000407683.1_Missense_Mutation_p.H196R|NEU4_ENST00000404257.1_Missense_Mutation_p.H208R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	196					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCAGCCCTCACTCCTTCGCC	0.687																																																	0													89.0	59.0	69.0					2																	242757506		2201	4299	6500	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.587A>G	2.37:g.242757506A>G	ENSP00000375830:p.His196Arg		A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Sialidases	p.H209R	ENST00000391969.2	37	c.626	CCDS54442.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.636262|2.636262	0.47049|0.47049	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288|ENST00000415936;ENST00000426032	D;D;D;D;D;D|T;T	0.86097|0.33438	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07|1.41;1.41	4.55|4.55	4.55|4.55	0.56014|0.56014	Neuraminidase (2);|.	0.161489|.	0.56097|.	D|.	0.000040|.	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.48986|0.48986	1.54|1.54	0.46260|0.46260	D|D	0.998955|0.998955	B;B;B|.	0.31413|.	0.322;0.275;0.167|.	B;B;B|.	0.32980|.	0.156;0.096;0.117|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.51188|0.49607	T|T	0.08|0.09	-25.94|-25.94	8.634|8.634	0.33936|0.33936	0.9129:0.0:0.0871:0.0|0.9129:0.0:0.0871:0.0	.|.	208;208;196|.	A8K211;Q8WWR8-2;Q8WWR8|.	.;.;NEUR4_HUMAN|.	R|A	196;196;206;208;196;209;196|111;123	ENSP00000385402:H196R;ENSP00000384804:H196R;ENSP00000385149:H208R;ENSP00000375830:H196R;ENSP00000320318:H209R;ENSP00000388707:H196R|ENSP00000397167:T111A;ENSP00000406678:T123A	ENSP00000320318:H209R|ENSP00000397167:T111A	H|T	+|+	2|1	0|0	NEU4|NEU4	242406179|242406179	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.960000|0.960000	0.62799|0.62799	3.493000|3.493000	0.53266|0.53266	1.688000|1.688000	0.51068|0.51068	0.364000|0.364000	0.22116|0.22116	CAC|ACT	NEU4	-	superfamily_Sialidases	ENSG00000204099		0.687	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	-	0.00	38	0	A	NM_080741		242757506	+1	tier1	-	no_errors	ENST00000325935	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.963	G
NFASC	23114	genome.wustl.edu	37	1	204987304	204987304	+	3'UTR	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:204987304G>A	ENST00000401399.1	+	0	5559				NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000367171.4_3'UTR|NFASC_ENST00000404907.1_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000404076.1_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000367172.4_3'UTR|NFASC_ENST00000367169.4_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTCTAAGAGGAACCCTTTAG	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*1637G>A	1.37:g.204987304G>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			NFASC	-	-	ENSG00000163531		0.522	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0.00	37	0	G	NM_001005388		204987304	+1	tier1	-	no_errors	ENST00000495396	ensembl	human	known	74_37	rna	35.85	34	19	SNP	0.000	A
NLRC3	197358	genome.wustl.edu	37	16	3613869	3613869	+	RNA	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:3613869G>A	ENST00000301749.7	-	0	1474				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGTCCTCGGGGGCCACAGC	0.672																																																	0													33.0	37.0	36.0					16																	3613869		1983	4147	6130			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613869G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P404S	ENST00000301749.7	37	c.1210		16	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099908	0.56183	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91175	0.7220	.	.	.	0.37722	D	0.924967	D	0.89917	1.0	D	0.83275	0.996	D	0.91013	0.4851	9	0.30078	T	0.28	.	16.1451	0.81562	0.0:0.0:1.0:0.0	.	404	C9JLH9	.	S	357;357;357;404;339	ENSP00000301749:P357S;ENSP00000352039:P357S;ENSP00000414415:P404S;ENSP00000323897:P339S	ENSP00000301749:P357S	P	-	1	0	NLRC3	3553870	1.000000	0.71417	0.106000	0.21319	0.462000	0.32619	9.869000	0.99810	2.396000	0.81511	0.655000	0.94253	CCG	NLRC3	-	NULL	ENSG00000167984		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0.00	23	0	G	NM_178844		3613869	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.990	A
NONO	4841	genome.wustl.edu	37	X	70520904	70520905	+	3'UTR	INS	-	-	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:70520904_70520905insT	ENST00000276079.8	+	0	2599_2600				NONO_ENST00000535149.1_3'UTR|ITGB1BP2_ENST00000373829.3_5'Flank|NONO_ENST00000373841.1_3'UTR|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CATGCTGTGCATTTTTTTTTTC	0.366			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0																																										SO:0001624	3_prime_UTR_variant	0			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.*979->T	X.37:g.70520914_70520914dupT			B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	RNA	INS	-	NULL	ENST00000276079.8	37	NULL	CCDS14410.1	X																																																																																			NONO	-	-	ENSG00000147140		0.366	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1		0.00	23	0	-	NM_007363		70520905	+1	tier1		no_errors	ENST00000490044	ensembl	human	known	74_37	rna	16.67	20	4	INS	0.993:0.995	T
NPC1	4864	genome.wustl.edu	37	18	21121380	21121380	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:21121380G>A	ENST00000269228.5	-	15	2817	c.2263C>T	c.(2263-2265)Cca>Tca	p.P755S	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.P437S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	755	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCACGGCTGGCATCACGGAC	0.512																																																	0													81.0	72.0	75.0					18																	21121380		2203	4300	6503	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2263C>T	18.37:g.21121380G>A	ENSP00000269228:p.Pro755Ser		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.P755S	ENST00000269228.5	37	c.2263	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266164	0.80358	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96716	-4.1;-4.1	5.89	5.89	0.94794	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.99069	1.0833	10	0.87932	D	0	-20.7436	20.2566	0.98424	0.0:0.0:1.0:0.0	.	766;755	Q59GR1;O15118	.;NPC1_HUMAN	S	755;437;600	ENSP00000269228:P755S;ENSP00000408606:P437S	ENSP00000269228:P755S	P	-	1	0	NPC1	19375378	1.000000	0.71417	0.999000	0.59377	0.127000	0.20565	9.787000	0.99055	2.793000	0.96121	0.561000	0.74099	CCA	NPC1	-	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	ENSG00000141458		0.512	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	-	0.00	61	0	G	NM_000271		21121380	-1	tier1	-	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
NR5A2	2494	genome.wustl.edu	37	1	200012970	200012970	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:200012970G>A	ENST00000367362.3	+	3	517	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NR5A2_ENST00000544748.1_Missense_Mutation_p.D19N|NR5A2_ENST00000236914.3_Missense_Mutation_p.D45N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	91					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CGTGTGTGGAGATAAAGTGTC	0.383																																					Melanoma(179;1138 2773 15678 26136)												0													119.0	110.0	113.0					1																	200012970		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.271G>A	1.37:g.200012970G>A	ENSP00000356331:p.Asp91Asn		B4E2P3|O95642|Q147U3	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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D91N	ENST00000367362.3	37	c.271	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.582042	0.96578	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	D;D;D	0.98329	-4.87;-4.87;-4.87	5.91	5.91	0.95273	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99342	1.0912	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	45;91	F1D8R9;O00482	.;NR5A2_HUMAN	N	91;45;19;11	ENSP00000356331:D91N;ENSP00000236914:D45N;ENSP00000439116:D19N	.	D	+	1	0	NR5A2	198279593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.343000	0.97047	2.814000	0.96858	0.650000	0.86243	GAT	NR5A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000116833		0.383	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	-	0.00	58	0	G			200012970	+1	tier1	-	no_errors	ENST00000367362	ensembl	human	known	74_37	missense	12.86	61	9	SNP	1.000	A
OGFOD2	79676	genome.wustl.edu	37	12	123461501	123461501	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:123461501G>A	ENST00000228922.7	+	4	419	c.387G>A	c.(385-387)cgG>cgA	p.R129R	OGFOD2_ENST00000454694.2_De_novo_Start_InFrame|OGFOD2_ENST00000397389.2_Silent_p.R69R|OGFOD2_ENST00000538628.1_De_novo_Start_OutOfFrame|OGFOD2_ENST00000536150.1_De_novo_Start_InFrame|OGFOD2_ENST00000538755.1_De_novo_Start_OutOfFrame|OGFOD2_ENST00000545612.1_De_novo_Start_OutOfFrame|OGFOD2_ENST00000545317.1_De_novo_Start_OutOfFrame|ABCB9_ENST00000542678.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|ABCB9_ENST00000392439.3_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	129							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.R69R(1)		breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TTCTCCAGCGGCTGGAGACAG	0.642																																																	1	Substitution - coding silent(1)	endometrium(1)											35.0	39.0	38.0					12																	123461501		2037	4189	6226	SO:0001819	synonymous_variant	0			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.387G>A	12.37:g.123461501G>A			B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	smart_Pro_4_hyd_alph	p.R129	ENST00000228922.7	37	c.387		12																																																																																			OGFOD2	-	NULL	ENSG00000111325		0.642	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1		0.00	70	0	G	NM_024623		123461501	+1			no_errors	ENST00000228922	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.078	A
OR2J3	442186	genome.wustl.edu	37	6	29080478	29080478	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:29080478C>G	ENST00000377169.1	+	1	811	c.811C>G	c.(811-813)Caa>Gaa	p.Q271E		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGGAAATTCTCAAGATCAAGG	0.433																																																	0													108.0	108.0	108.0					6																	29080478		1238	2545	3783	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.811C>G	6.37:g.29080478C>G	ENSP00000366374:p.Gln271Glu		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q271E	ENST00000377169.1	37	c.811	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197209	0.22037	.	.	ENSG00000204701	ENST00000377169	T	0.00069	8.77	3.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.26130	0.795	0.09310	N	1	B	0.34147	0.438	P	0.46685	0.524	T	0.02238	-1.1190	9	0.39692	T	0.17	.	4.4456	0.11595	0.0:0.6639:0.0:0.3361	.	271	O76001	OR2J3_HUMAN	E	271	ENSP00000366374:Q271E	ENSP00000366374:Q271E	Q	+	1	0	OR2J3	29188457	0.000000	0.05858	0.485000	0.27403	0.764000	0.43329	-1.556000	0.02168	1.679000	0.50963	0.436000	0.28706	CAA	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204701		0.433	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0.00	33	0	C			29080478	+1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.001	G
OPN5	221391	genome.wustl.edu	37	6	47779443	47779443	+	Silent	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:47779443T>C	ENST00000371211.2	+	6	1060	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S	OPN5_ENST00000489301.2_Silent_p.S344S|OPN5_ENST00000393699.2_Silent_p.S344S|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	344					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GGAAGTCTTCTGCTGTGCTGG	0.373																																					Melanoma(28;740 973 10870 42660 45347)												0													135.0	119.0	124.0					6																	47779443		2203	4300	6503	SO:0001819	synonymous_variant	0			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.1032T>C	6.37:g.47779443T>C			A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.S344	ENST00000371211.2	37	c.1032	CCDS4923.1	6																																																																																			OPN5	-	NULL	ENSG00000124818		0.373	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	-	0.00	31	0	T	NM_181744		47779443	+1	tier1	-	no_errors	ENST00000371211	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	C
OR51A4	401666	genome.wustl.edu	37	11	4967979	4967979	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:4967979G>A	ENST00000380373.2	-	1	377	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGATCAGGAGGACTGAG	0.443																																																	0													204.0	203.0	203.0					11																	4967979		2191	4288	6479	SO:0001819	synonymous_variant	0			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.352C>T	11.37:g.4967979G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L118	ENST00000380373.2	37	c.352	CCDS31367.1	11																																																																																			OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205497		0.443	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1		0.00	58	0	G	NM_001005329		4967979	-1			no_errors	ENST00000380373	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.000	A
OTOG	340990	genome.wustl.edu	37	11	17569725	17569725	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:17569725C>T	ENST00000399391.2	+	2	218	c.218C>T	c.(217-219)gCc>gTc	p.A73V	OTOG_ENST00000399397.1_5'UTR	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	73					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						GCGACCCTTGCCATGGGGGAC	0.617																																																	0																																										SO:0001583	missense	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.218C>T	11.37:g.17569725C>T	ENSP00000382323:p.Ala73Val		A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.A73V	ENST00000399391.2	37	c.218	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900466	0.33535	.	.	ENSG00000188162	ENST00000399391	T	0.15718	2.4	3.9	2.99	0.34606	.	.	.	.	.	T	0.18383	0.0441	L	0.42245	1.32	0.09310	N	1	.	.	.	.	.	.	T	0.13737	-1.0498	7	0.40728	T	0.16	.	7.5935	0.28035	0.0:0.885:0.0:0.115	.	.	.	.	V	73	ENSP00000382323:A73V	ENSP00000382323:A73V	A	+	2	0	OTOG	17526301	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.041000	0.12084	1.245000	0.43885	-0.145000	0.13849	GCC	OTOG	-	NULL	ENSG00000188162		0.617	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	46	0	C			17569725	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	missense	8.89	40	4	SNP	0.003	T
OR5T2	219464	genome.wustl.edu	37	11	56000005	56000005	+	Silent	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:56000005A>G	ENST00000313264.4	-	1	732	c.657T>C	c.(655-657)gaT>gaC	p.D219D		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGGAGGGATATCACAAAAGA	0.428																																																	0													166.0	150.0	156.0					11																	56000005		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.657T>C	11.37:g.56000005A>G			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D219	ENST00000313264.4	37	c.657	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0.00	80	0	A	NM_001004746		56000005	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	8.57	64	6	SNP	0.018	G
P4HTM	54681	genome.wustl.edu	37	3	49041623	49041623	+	Missense_Mutation	SNP	C	C	T	rs199611252	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:49041623C>T	ENST00000383729.4	+	5	1188	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	P4HTM_ENST00000343546.4_Missense_Mutation_p.R273W|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	273						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGAGCTGGTGCGGAACAGCCA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		19391	0.0		0.002	False		,,,				2504	0.0																0								C	TRP/ARG,TRP/ARG	0,4228		0,0,2114	37.0	26.0	30.0		817,817	3.9	1.0	3		30	1,8233		0,1,4116	yes	missense,missense	P4HTM	NM_177938.2,NM_177939.2	101,101	0,1,6230	TT,TC,CC		0.0121,0.0,0.0080	probably-damaging,probably-damaging	273/564,273/503	49041623	1,12461	2114	4117	6231	SO:0001583	missense	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.817C>T	3.37:g.49041623C>T	ENSP00000373235:p.Arg273Trp		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R273W	ENST00000383729.4	37	c.817	CCDS43089.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077993|4.077993	0.76528|0.76528	0.0|0.0	1.21E-4|1.21E-4	ENSG00000178467|ENSG00000178467	ENST00000444213|ENST00000383729;ENST00000343546	.|D	.|0.88818	.|-2.43	5.76|5.76	3.9|3.9	0.45041|0.45041	.|Prolyl 4-hydroxylase, alpha subunit (1);	.|0.105481	.|0.64402	.|D	.|0.000005	D|D	0.92619|0.92619	0.7655|0.7655	L|L	0.59436|0.59436	1.845|1.845	0.42438|0.42438	D|D	0.992705|0.992705	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.984;0.995	D|D	0.92715|0.92715	0.6186|0.6186	5|10	.|0.87932	.|D	.|0	-31.9241|-31.9241	13.6246|13.6246	0.62157|0.62157	0.4198:0.5802:0.0:0.0|0.4198:0.5802:0.0:0.0	.|.	.|273;273	.|Q9NXG6-3;Q9NXG6	.|.;P4HTM_HUMAN	V|W	202|273	.|ENSP00000373235:R273W	.|ENSP00000341422:R273W	A|R	+|+	2|1	0|2	P4HTM|P4HTM	49016627|49016627	0.592000|0.592000	0.26832|0.26832	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.632000|0.632000	0.24583|0.24583	0.717000|0.717000	0.32145|0.32145	0.655000|0.655000	0.94253|0.94253	GCG|CGG	P4HTM	-	smart_Pro_4_hyd_alph	ENSG00000178467		0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	-	0.00	20	0	C	NM_177938		49041623	+1	tier1	rs199611252	no_errors	ENST00000343546	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	T
PADI4	23569	genome.wustl.edu	37	1	17657501	17657501	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:17657501G>A	ENST00000375448.4	+	2	156	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	PADI4_ENST00000375453.1_Missense_Mutation_p.A44T|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	44					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CAGCATCAACGCCTCCCCAGG	0.617																																																	0													77.0	64.0	68.0					1																	17657501		2203	4300	6503	SO:0001583	missense	0			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.130G>A	1.37:g.17657501G>A	ENSP00000364597:p.Ala44Thr		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.A44T	ENST00000375448.4	37	c.130	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	a	12.64	1.998957	0.35226	.	.	ENSG00000159339	ENST00000375453;ENST00000358829;ENST00000375448	T;T	0.10099	2.91;2.91	5.32	2.44	0.29823	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.350736	0.27749	N	0.018008	T	0.12603	0.0306	M	0.71581	2.175	0.09310	N	1	B;B	0.19935	0.04;0.04	B;B	0.16722	0.016;0.016	T	0.18147	-1.0346	10	0.49607	T	0.09	-15.0969	7.418	0.27055	0.2724:0.0:0.7276:0.0	.	44;44	A8K392;Q9UM07	.;PADI4_HUMAN	T	44	ENSP00000364602:A44T;ENSP00000364597:A44T	ENSP00000351690:A44T	A	+	1	0	PADI4	17530088	0.075000	0.21258	0.005000	0.12908	0.001000	0.01503	1.242000	0.32755	0.333000	0.23563	-0.213000	0.12676	GCC	PADI4	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	ENSG00000159339		0.617	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	-	0.00	68	0	G	NM_012387		17657501	+1	tier1	-	no_errors	ENST00000375448	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.008	A
PCDH18	54510	genome.wustl.edu	37	4	138453100	138453100	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:138453100G>A	ENST00000344876.4	-	1	529	c.143C>T	c.(142-144)tCa>tTa	p.S48L	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S48L|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACATCCTCTGATAGTCTTGC	0.413																																																	0													138.0	135.0	136.0					4																	138453100		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.143C>T	4.37:g.138453100G>A	ENSP00000355082:p.Ser48Leu		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S48L	ENST00000344876.4	37	c.143	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633601	0.67015	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.27104	1.69;1.69	5.57	5.57	0.84162	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.215683	0.23321	U	0.049454	T	0.25382	0.0617	N	0.25380	0.74	0.80722	D	1	B;B	0.24317	0.026;0.101	B;B	0.28916	0.025;0.096	T	0.06445	-1.0826	10	0.87932	D	0	.	19.5577	0.95358	0.0:0.0:1.0:0.0	.	48;48	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	L	48	ENSP00000355082:S48L;ENSP00000390688:S48L	ENSP00000355082:S48L	S	-	2	0	PCDH18	138672550	1.000000	0.71417	0.963000	0.40424	0.978000	0.69477	4.581000	0.60949	2.618000	0.88619	0.561000	0.74099	TCA	PCDH18	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000189184		0.413	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1		0.00	52	0	G	NM_019035		138453100	-1			no_errors	ENST00000344876	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.933	A
PCDHB13	56123	genome.wustl.edu	37	5	140595492	140595492	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:140595492C>T	ENST00000341948.4	+	1	1984	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.716																																																	0													6.0	8.0	7.0					5																	140595492		1732	3464	5196	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1797C>T	5.37:g.140595492C>T			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N599	ENST00000341948.4	37	c.1797	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0.00	40	0	C	NM_018933		140595492	+1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	T
PCDHB14	56122	genome.wustl.edu	37	5	140603871	140603871	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:140603871C>T	ENST00000239449.4	+	1	794	c.794C>T	c.(793-795)tCa>tTa	p.S265L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S112L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCATCTCAGCTAAGGAT	0.423																																					Ovarian(141;50 1831 27899 33809 37648)												0													53.0	57.0	55.0					5																	140603871		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.794C>T	5.37:g.140603871C>T	ENSP00000239449:p.Ser265Leu		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S265L	ENST00000239449.4	37	c.794	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	7.877	0.729313	0.15507	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52754	0.65;0.65	4.75	2.93	0.34026	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.43986	0.1272	M	0.73372	2.23	0.26947	N	0.966122	B	0.22851	0.076	B	0.26310	0.068	T	0.45366	-0.9266	9	0.48119	T	0.1	.	3.7693	0.08635	0.2835:0.5075:0.1238:0.0851	.	265	Q9Y5E9	PCDBE_HUMAN	L	112;265	ENSP00000444518:S112L;ENSP00000239449:S265L	ENSP00000239449:S265L	S	+	2	0	PCDHB14	140584055	0.000000	0.05858	0.968000	0.41197	0.331000	0.28603	-1.568000	0.02144	0.523000	0.28482	0.655000	0.94253	TCA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120327		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0.00	79	0	C	NM_018934		140603871	+1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.939	T
PCGF2	7703	genome.wustl.edu	37	17	36891779	36891779	+	Silent	SNP	G	G	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:36891779G>C	ENST00000580830.1	-	12	1433	c.732C>G	c.(730-732)ccC>ccG	p.P244P	PCGF2_ENST00000585100.1_Missense_Mutation_p.L246V|PCGF2_ENST00000579882.1_Missense_Mutation_p.L246V|PCGF2_ENST00000360797.2_Silent_p.P244P|PCGF2_ENST00000581345.1_Silent_p.P244P|PCGF2_ENST00000578109.1_Missense_Mutation_p.L192V			P35227	PCGF2_HUMAN	polycomb group ring finger 2	244	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TGCCCTCGGAGGGGGTGGGCA	0.692											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10.0	11.0	11.0					17																	36891779		2197	4287	6484	SO:0001819	synonymous_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.732C>G	17.37:g.36891779G>C		866	A6NGD8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L246V	ENST00000580830.1	37	c.736	CCDS32638.1	17																																																																																			PCGF2	-	NULL	ENSG00000056661		0.692	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2		0.00	23	0	G	NM_007144		36891779	-1			no_errors	ENST00000579882	ensembl	human	putative	74_37	missense	17.86	23	5	SNP	0.088	C
PCMTD1	115294	genome.wustl.edu	37	8	52773576	52773576	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:52773576A>G	ENST00000360540.5	-	3	542	c.136T>C	c.(136-138)Tac>Cac	p.Y46H	PCMTD1_ENST00000521344.1_Missense_Mutation_p.Y46H|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Missense_Mutation_p.Y46H	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	46						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTGTCTCTGTAGCCTTCCAAA	0.388																																																	0													111.0	101.0	105.0					8																	52773576		2203	4300	6503	SO:0001583	missense	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.136T>C	8.37:g.52773576A>G	ENSP00000353739:p.Tyr46His		Q96FK9	Missense_Mutation	SNP	pfam_PCMT	p.Y46H	ENST00000360540.5	37	c.136	CCDS6148.1	8	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749687	0.69533	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.50277	0.75;0.75;0.75	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.32530	0.975	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.14699	-1.0463	10	0.22706	T	0.39	-29.9348	15.8734	0.79141	1.0:0.0:0.0:0.0	.	46	Q96MG8	PCMD1_HUMAN	H	46	ENSP00000353739:Y46H;ENSP00000428099:Y46H;ENSP00000430168:Y46H	ENSP00000353739:Y46H	Y	-	1	0	PCMTD1	52936129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.962000	0.76048	2.204000	0.70986	0.528000	0.53228	TAC	PCMTD1	-	pfam_PCMT	ENSG00000168300		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	-	0.00	39	0	A	NM_052937		52773576	-1	tier1	-	no_errors	ENST00000360540	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	G
PCNXL2	80003	genome.wustl.edu	37	1	233121788	233121788	+	Intron	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:233121788C>T	ENST00000258229.9	-	33	6475				PCNXL2_ENST00000344698.2_Missense_Mutation_p.G749D	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGCCAGGAGCCCGTGCCACC	0.657																																																	0													8.0	10.0	10.0					1																	233121788		1953	3964	5917	SO:0001627	intron_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6240+49G>A	1.37:g.233121788C>T			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.G749D	ENST00000258229.9	37	c.2246	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.299989	0.23650	.	.	ENSG00000135749	ENST00000344698	T	0.25250	1.81	4.57	1.59	0.23543	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23297	-1.0192	8	0.87932	D	0	.	8.0037	0.30313	0.0:0.7256:0.0:0.2744	.	749	A6NKB5-3	.	D	749	ENSP00000340759:G749D	ENSP00000340759:G749D	G	-	2	0	PCNXL2	231188411	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.497000	0.06428	0.218000	0.20820	0.561000	0.74099	GGC	PCNXL2	-	NULL	ENSG00000135749		0.657	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0.00	40	0	C	NM_014801		233121788	-1	tier1	-	no_errors	ENST00000344698	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	T
PDE8B	8622	genome.wustl.edu	37	5	76704799	76704799	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:76704799C>T	ENST00000264917.5	+	14	1492	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000342343.4_Missense_Mutation_p.R463W|PDE8B_ENST00000346042.3_Missense_Mutation_p.R386W|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R436W	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	483					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	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)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGAGATTTTACGGACCACAGA	0.463																																																	0													109.0	103.0	105.0					5																	76704799		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1447C>T	5.37:g.76704799C>T	ENSP00000264917:p.Arg483Trp		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.R483W	ENST00000264917.5	37	c.1447	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637182	0.67130	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343	T;T;T;T	0.71698	-0.46;-0.59;-0.46;-0.46	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.998	D	0.85208	0.1019	10	0.87932	D	0	.	12.622	0.56607	0.1657:0.8343:0.0:0.0	.	386;436;463;483	O95263-2;O95263-6;O95263-4;O95263	.;.;.;PDE8B_HUMAN	W	436;386;483;463	ENSP00000345446:R436W;ENSP00000330428:R386W;ENSP00000264917:R483W;ENSP00000345646:R463W	ENSP00000264917:R483W	R	+	1	2	PDE8B	76740555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.350000	0.44063	2.200000	0.70718	0.561000	0.74099	CGG	PDE8B	-	NULL	ENSG00000113231		0.463	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0.00	98	0	C	NM_003719		76704799	+1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	T
PELI2	57161	genome.wustl.edu	37	14	56763776	56763776	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:56763776G>A	ENST00000267460.4	+	6	1441	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	385					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CTCAGATCCCGTTGCCTCATG	0.493																																																	0													154.0	135.0	141.0					14																	56763776		2203	4300	6503	SO:0001819	synonymous_variant	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1155G>A	14.37:g.56763776G>A			B2RDY5	Silent	SNP	pfam_Pellino_fam	p.P385	ENST00000267460.4	37	c.1155	CCDS9726.1	14																																																																																			PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.493	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0.00	50	0	G			56763776	+1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.000	A
PELI3	246330	genome.wustl.edu	37	11	66241210	66241210	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:66241210G>A	ENST00000320740.7	+	7	814	c.654G>A	c.(652-654)gaG>gaA	p.E218E	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000524466.1_Silent_p.E218E|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Silent_p.E194E	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	218					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGTCCCAGGAGCGAGCGGCCA	0.647																																																	0													48.0	49.0	49.0					11																	66241210		2200	4295	6495	SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.654G>A	11.37:g.66241210G>A			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.E218	ENST00000320740.7	37	c.654	CCDS31615.1	11																																																																																			PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.647	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	-	0.00	134	0	G	NM_145065		66241210	+1	tier1	-	no_errors	ENST00000320740	ensembl	human	known	74_37	silent	16.67	100	20	SNP	1.000	A
PITRM1	10531	genome.wustl.edu	37	10	3208472	3208472	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:3208472A>G	ENST00000224949.4	-	4	401	c.367T>C	c.(367-369)Ttc>Ctc	p.F123L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.F91L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.F123L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	123					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATTTTGAAGAAAGGGTCTCTG	0.498																																																	0													198.0	196.0	196.0					10																	3208472		1944	4143	6087	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.367T>C	10.37:g.3208472A>G	ENSP00000224949:p.Phe123Leu		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.F123L	ENST00000224949.4	37	c.367	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	a	26.9	4.785309	0.90282	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.13901	2.55;2.55;2.55	5.55	5.55	0.83447	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.086497	0.85682	D	0.000000	T	0.35307	0.0927	M	0.69185	2.1	0.80722	D	1	D;D;D;D;P;D	0.60575	0.987;0.988;0.979;0.974;0.873;0.986	P;D;P;P;P;P	0.65684	0.84;0.937;0.891;0.802;0.802;0.802	T	0.07712	-1.0758	10	0.87932	D	0	.	15.7592	0.78063	1.0:0.0:0.0:0.0	.	116;91;123;123;123;116	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	L	123;116;123;91	ENSP00000224949:F123L;ENSP00000370377:F123L;ENSP00000401201:F91L	ENSP00000224949:F123L	F	-	1	0	PITRM1	3198472	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	8.664000	0.91139	2.128000	0.65567	0.374000	0.22700	TTC	PITRM1	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0.00	80	0	A			3208472	-1	tier1	-	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G
PLA1A	51365	genome.wustl.edu	37	3	119325794	119325794	+	Missense_Mutation	SNP	G	G	A	rs141940849		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:119325794G>A	ENST00000273371.4	+	2	319	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Missense_Mutation_p.G83R|PLA1A_ENST00000494440.1_Missense_Mutation_p.G67R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	83					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCACTCTGGGAACCAAACT	0.428																																																	0								G	ARG/GLY,,ARG/GLY	0,4406		0,0,2203	128.0	135.0	133.0		247,,247	4.7	1.0	3	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	125,,125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,,benign	83/441,,83/457	119325794	2,13004	2203	4300	6503	SO:0001583	missense	0			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.247G>A	3.37:g.119325794G>A	ENSP00000273371:p.Gly83Arg		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G83R	ENST00000273371.4	37	c.247	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132392	0.37630	0.0	2.33E-4	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90504	-2.68;-2.68;-2.68	4.67	4.67	0.58626	Lipase, N-terminal (1);	0.211539	0.49916	D	0.000131	D	0.88489	0.6450	N	0.12611	0.24	0.35835	D	0.825574	D;D	0.56287	0.968;0.975	P;P	0.58454	0.751;0.839	D	0.90854	0.4733	10	0.42905	T	0.14	-7.4212	14.953	0.71088	0.0:0.0:1.0:0.0	.	83;83	Q53H76-3;Q53H76	.;PLA1A_HUMAN	R	83;83;67	ENSP00000273371:G83R;ENSP00000417326:G83R;ENSP00000418793:G67R	ENSP00000273371:G83R	G	+	1	0	PLA1A	120808484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.260000	0.43267	2.595000	0.87683	0.655000	0.94253	GGA	PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	ENSG00000144837		0.428	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	-	0.00	44	0	G			119325794	+1	tier1	rs141940849	no_errors	ENST00000273371	ensembl	human	known	74_37	missense	62.07	11	18	SNP	1.000	A
PLEKHO2	80301	genome.wustl.edu	37	15	65157916	65157916	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:65157916G>A	ENST00000323544.4	+	6	1430	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	434										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGGGCAGTGAGCCGGCCCCTG	0.597																																																	0													45.0	47.0	47.0					15																	65157916		2202	4299	6501	SO:0001819	synonymous_variant	0			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1302G>A	15.37:g.65157916G>A			Q7L4H4|Q8WYS8	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E434	ENST00000323544.4	37	c.1302	CCDS10196.1	15																																																																																			PLEKHO2	-	NULL	ENSG00000241839		0.597	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	-	0.00	56	0	G	NM_025201		65157916	+1	tier1	-	no_errors	ENST00000323544	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.663	A
POMT1	10585	genome.wustl.edu	37	9	134386739	134386739	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:134386739A>G	ENST00000372228.3	+	10	1116	c.937A>G	c.(937-939)Atc>Gtc	p.I313V	POMT1_ENST00000404875.2_Missense_Mutation_p.I174V|POMT1_ENST00000541219.1_Missense_Mutation_p.I69V|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Missense_Mutation_p.I291V|POMT1_ENST00000354713.4_Missense_Mutation_p.I261V|POMT1_ENST00000419118.2_Missense_Mutation_p.I139V|POMT1_ENST00000402686.3_Missense_Mutation_p.I291V|POMT1_ENST00000341012.7_Missense_Mutation_p.I237V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	313					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACTAGCTCGGATCACTCAGGG	0.562																																																	0													116.0	104.0	108.0					9																	134386739		2203	4300	6503	SO:0001583	missense	0			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.937A>G	9.37:g.134386739A>G	ENSP00000361302:p.Ile313Val		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.I313V	ENST00000372228.3	37	c.937	CCDS6943.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.99|13.99	2.400739|2.400739	0.42613|0.42613	.|.	.|.	ENSG00000130714|ENSG00000130714	ENST00000372221;ENST00000415075|ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D|D;D;D;T;D;D;T;T;D	0.91686|0.81821	-2.89|-1.52;-1.52;-1.52;-0.98;-1.51;-1.52;-1.37;-1.47;-1.54	5.13|5.13	2.77|2.77	0.32553|0.32553	.|.	.|0.048785	.|0.85682	.|N	.|0.000000	T|T	0.72851|0.72851	0.3512|0.3512	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;B;B;B	.|0.20887	.|0.001;0.016;0.028;0.049;0.027	.|B;B;B;B;B	.|0.26693	.|0.009;0.072;0.032;0.024;0.044	T|T	0.61676|0.61676	-0.7014|-0.7014	7|10	0.02654|0.26408	T|T	1|0.33	-17.5722|-17.5722	8.605|8.605	0.33767|0.33767	0.8398:0.0:0.1602:0.0|0.8398:0.0:0.1602:0.0	.|.	.|16;261;69;313;291	.|B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.|.;.;.;POMT1_HUMAN;.	G|V	88|291;174;237;196;313;291;139;69;261	ENSP00000405149:D88G|ENSP00000404119:I291V;ENSP00000384531:I174V;ENSP00000343034:I237V;ENSP00000395060:I196V;ENSP00000361302:I313V;ENSP00000385797:I291V;ENSP00000403032:I139V;ENSP00000440895:I69V;ENSP00000346748:I261V	ENSP00000361295:D88G|ENSP00000343034:I237V	D|I	+|+	2|1	0|0	POMT1|POMT1	133376560|133376560	0.999000|0.999000	0.42202|0.42202	0.883000|0.883000	0.34634|0.34634	0.808000|0.808000	0.45660|0.45660	3.913000|3.913000	0.56394|0.56394	0.289000|0.289000	0.22422|0.22422	0.460000|0.460000	0.39030|0.39030	GAT|ATC	POMT1	-	NULL	ENSG00000130714		0.562	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1		0.00	64	0	A	NM_007171		134386739	+1			no_errors	ENST00000372228	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	G
PPP1R9A	55607	genome.wustl.edu	37	7	94879515	94879515	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:94879515T>A	ENST00000433881.1	+	9	2810	c.2278T>A	c.(2278-2280)Ttg>Atg	p.L760M	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.L760M|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L760M|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L760M|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L760M|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L782M			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	760	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATCAGGCCTTGGAAAAGAA	0.378										HNSCC(28;0.073)																																							0													64.0	61.0	62.0					7																	94879515		2203	4300	6503	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2278T>A	7.37:g.94879515T>A	ENSP00000398870:p.Leu760Met		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.L760M	ENST00000433881.1	37	c.2278	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031206	0.75504	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.55760	0.5;0.71;0.54;0.71;0.64;0.54	5.22	-5.57	0.02521	.	0.000000	0.64402	D	0.000001	T	0.68063	0.2960	M	0.75085	2.285	0.47214	D	0.999354	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.986;1.0;0.996;0.998;0.999	T	0.73917	-0.3831	10	0.87932	D	0	.	18.2473	0.89991	0.0:0.7991:0.0:0.2009	.	760;760;782;760;760	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	M	782;760;760;760;760;760	ENSP00000405514:L782M;ENSP00000344524:L760M;ENSP00000411342:L760M;ENSP00000398870:L760M;ENSP00000289495:L760M;ENSP00000402893:L760M	ENSP00000289495:L760M	L	+	1	2	PPP1R9A	94717451	0.996000	0.38824	0.904000	0.35570	0.968000	0.65278	0.849000	0.27723	-0.957000	0.03627	-0.250000	0.11733	TTG	PPP1R9A	-	superfamily_Smac_DIABLO-like	ENSG00000158528		0.378	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0.00	80	0	T	NM_001166160		94879515	+1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	A
PPP6R2	9701	genome.wustl.edu	37	22	50879410	50879410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:50879410delC	ENST00000216061.5	+	23	2925	c.2555delC	c.(2554-2556)gccfs	p.A852fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A819fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A818fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A819fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	852						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GGCCGGGAGGCCCCCCCGCTG	0.721																																																	0													16.0	19.0	18.0					22																	50879410		2198	4294	6492	SO:0001589	frameshift_variant	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2555delC	22.37:g.50879410delC	ENSP00000216061:p.Ala852fs		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.P854fs	ENST00000216061.5	37	c.2555		22																																																																																			PPP6R2	-	NULL	ENSG00000100239		0.721	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1		0.00	70	0	C	NM_014678		50879410	+1	tier1		no_errors	ENST00000216061	ensembl	human	known	74_37	frame_shift_del	5.77	49	3	DEL	0.000	-
PQBP1	10084	genome.wustl.edu	37	X	48759676	48759676	+	Missense_Mutation	SNP	A	A	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:48759676A>C	ENST00000376563.1	+	5	659	c.459A>C	c.(457-459)agA>agC	p.R153S	PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000218224.4_Missense_Mutation_p.R153S|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Missense_Mutation_p.R153S|PQBP1_ENST00000447146.2_Missense_Mutation_p.R153S	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	153	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.|Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACAGAGAGAGAGAGCGAGACA	0.617																																																	0			GRCh37	CD033719	PQBP1	D							57.0	38.0	44.0					X																	48759676		2201	4298	6499	SO:0001583	missense	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.459A>C	X.37:g.48759676A>C	ENSP00000365747:p.Arg153Ser		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R153S	ENST00000376563.1	37	c.459	CCDS14309.1	X	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804549	0.31869	.	.	ENSG00000102103	ENST00000376563;ENST00000447146;ENST00000218224;ENST00000396763;ENST00000443648	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.07	5.15	1.28	0.21552	.	0.170811	0.45126	D	0.000382	T	0.68540	0.3012	L	0.29908	0.895	0.80722	D	1	P;P;D;P	0.56035	0.939;0.948;0.974;0.9	P;P;P;B	0.53649	0.556;0.452;0.731;0.354	T	0.62210	-0.6902	10	0.13108	T	0.6	-13.5198	6.0458	0.19760	0.5737:0.0:0.4263:0.0	.	153;153;153;153	O60828-2;C9JQA1;O60828-3;O60828	.;.;.;PQBP1_HUMAN	S	153	ENSP00000365747:R153S;ENSP00000391759:R153S;ENSP00000218224:R153S;ENSP00000379985:R153S;ENSP00000414861:R153S	ENSP00000218224:R153S	R	+	3	2	PQBP1	48644620	0.906000	0.30813	0.996000	0.52242	0.969000	0.65631	0.153000	0.16323	0.231000	0.21079	0.486000	0.48141	AGA	PQBP1	-	NULL	ENSG00000102103		0.617	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	-	0.00	22	0	A	NM_001032381.1		48759676	+1	tier1	-	no_errors	ENST00000218224	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	C
PRKD1	5587	genome.wustl.edu	37	14	30103628	30103628	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:30103628G>A	ENST00000331968.5	-	8	1539	c.1310C>T	c.(1309-1311)aCg>aTg	p.T437M	PRKD1_ENST00000415220.2_Missense_Mutation_p.T445M|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	437	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTTACCAGCGTGTCCTTGCT	0.473																																																	0													472.0	348.0	390.0					14																	30103628		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1310C>T	14.37:g.30103628G>A	ENSP00000333568:p.Thr437Met		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.T437M	ENST00000331968.5	37	c.1310	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198599	0.58126	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.75704	-0.96;-0.96;-0.96	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.229124	0.42548	D	0.000694	D	0.83138	0.5189	M	0.64997	1.995	0.44834	D	0.997842	D	0.55172	0.97	P	0.56788	0.806	T	0.82018	-0.0665	10	0.51188	T	0.08	-5.5735	20.5407	0.99260	0.0:0.0:1.0:0.0	.	437	Q15139	KPCD1_HUMAN	M	437;445;18	ENSP00000333568:T437M;ENSP00000390535:T445M;ENSP00000447333:T18M	ENSP00000333568:T437M	T	-	2	0	PRKD1	29173379	1.000000	0.71417	0.875000	0.34327	0.352000	0.29268	5.344000	0.65981	2.865000	0.98341	0.655000	0.94253	ACG	PRKD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184304		0.473	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0.00	42	0	G	NM_002742		30103628	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.996	A
PRSS51	346702	genome.wustl.edu	37	8	10355439	10355439	+	RNA	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:10355439C>T	ENST00000523024.1	-	0	391				PRSS51_ENST00000521149.1_RNA					protease, serine, 51																		TGAATGTTCTCGTTCCCATGA	0.453																																																	0																																												0					8p23.1	2013-01-16			ENSG00000253649	ENSG00000253649			37321	other	unknown							Standard			Approved				OTTHUMG00000163805		8.37:g.10355439C>T				RNA	SNP	-	NULL	ENST00000523024.1	37	NULL		8																																																																																			PRSS51	-	-	ENSG00000253649		0.453	PRSS51-002	KNOWN	basic	antisense	PRSS51	HGNC	antisense	OTTHUMT00000375669.1	-	0.00	70	0	C			10355439	-1	tier1	-	no_errors	ENST00000523024	ensembl	human	known	74_37	rna	27.45	37	14	SNP	0.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79320636	79320636	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:79320636G>A	ENST00000376718.3	-	8	6677	c.6554C>T	c.(6553-6555)tCt>tTt	p.S2185F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1826F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2185					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTTTATGAGAGGCGGGCTG	0.463																																																	0													115.0	107.0	109.0					9																	79320636		1568	3582	5150	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6554C>T	9.37:g.79320636G>A	ENSP00000365908:p.Ser2185Phe		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S1826F	ENST00000376718.3	37	c.5477	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768055	0.49680	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51817	0.69;0.7	5.57	5.57	0.84162	.	0.384240	0.22625	N	0.057645	T	0.46073	0.1374	M	0.64997	1.995	0.80722	D	1	P	0.38992	0.653	B	0.31101	0.124	T	0.54262	-0.8320	10	0.72032	D	0.01	-7.4824	17.7093	0.88317	0.0:0.0:1.0:0.0	.	2185	Q8WUY3	PRUN2_HUMAN	F	2185;1826;2184	ENSP00000365908:S2185F;ENSP00000397425:S1826F	ENSP00000365908:S2185F	S	-	2	0	PRUNE2	78510456	1.000000	0.71417	0.084000	0.20598	0.008000	0.06430	3.401000	0.52601	2.613000	0.88420	0.655000	0.94253	TCT	PRUNE2	-	NULL	ENSG00000106772		0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0.00	51	0	G	NM_138818		79320636	-1			no_errors	ENST00000428286	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.813	A
PSME3	10197	genome.wustl.edu	37	17	40993560	40993560	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:40993560C>T	ENST00000590720.1	+	11	963	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PSME3_ENST00000592169.1_Missense_Mutation_p.R188W|PSME3_ENST00000293362.3_Missense_Mutation_p.R257W|PSME3_ENST00000441946.2_Missense_Mutation_p.R255W|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.R183W			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAAGATCAAACGGCCCCGGAG	0.507																																																	0													68.0	64.0	66.0					17																	40993560		2203	4300	6503	SO:0001583	missense	0			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.730C>T	17.37:g.40993560C>T	ENSP00000466794:p.Arg244Trp		A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.R257W	ENST00000590720.1	37	c.769	CCDS45689.1	17	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250940	0.59212	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.46451	0.87;0.87	5.64	1.13	0.20643	Proteasome activator pa28, REG beta subunit (2);	0.212184	0.37095	N	0.002254	T	0.45337	0.1337	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.71674	0.99;0.998;0.998;0.998	P;P;P;P	0.54815	0.683;0.761;0.761;0.731	T	0.35895	-0.9770	10	0.54805	T	0.06	-9.4521	8.7618	0.34678	0.4838:0.4441:0.0:0.0722	.	183;244;244;257	B3KQ25;Q6FHK7;P61289;P61289-2	.;.;PSME3_HUMAN;.	W	183;257;244	ENSP00000441682:R183W;ENSP00000293362:R257W	ENSP00000293362:R257W	R	+	1	2	PSME3	38247086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.526000	0.53509	0.312000	0.23038	0.650000	0.86243	CGG	PSME3	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000131467		0.507	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	-	0.00	59	0	C	NM_176863		40993560	+1	tier1	-	no_errors	ENST00000293362	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	T
PTCHD3	374308	genome.wustl.edu	37	10	27692206	27692206	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:27692206C>T	ENST00000438700.3	-	3	1409	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	431	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAACAGCAGGCCAAAGCCGCT	0.458																																																	0													132.0	124.0	127.0					10																	27692206		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1292G>A	10.37:g.27692206C>T	ENSP00000417658:p.Gly431Asp		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.G431D	ENST00000438700.3	37	c.1292	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244895	0.79912	.	.	ENSG00000182077	ENST00000438700	D	0.97378	-4.36	4.09	4.09	0.47781	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	M	0.84948	2.725	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	-21.5917	16.4764	0.84133	0.0:1.0:0.0:0.0	.	431	Q3KNS1	PTHD3_HUMAN	D	431	ENSP00000417658:G431D	ENSP00000417658:G431D	G	-	2	0	PTCHD3	27732212	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	5.776000	0.68924	2.118000	0.64928	0.561000	0.74099	GGC	PTCHD3	-	pfam_Patched,pfscan_SSD	ENSG00000182077		0.458	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0.00	68	0	C	XM_370541		27692206	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
PTPN4	5775	genome.wustl.edu	37	2	120677751	120677751	+	Missense_Mutation	SNP	G	G	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:120677751G>C	ENST00000263708.2	+	12	1706	c.935G>C	c.(934-936)aGa>aCa	p.R312T	snoU13_ENST00000459555.1_RNA	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	312	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CGTTTGGACAGACCACTTCCA	0.338																																																	0													127.0	126.0	126.0					2																	120677751		2202	4299	6501	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.935G>C	2.37:g.120677751G>C	ENSP00000263708:p.Arg312Thr		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R312T	ENST00000263708.2	37	c.935	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317946	0.60524	.	.	ENSG00000088179	ENST00000263708	D	0.83335	-1.71	5.55	5.55	0.83447	FERM, C-terminal PH-like domain (1);FERM domain (1);	0.150518	0.64402	D	0.000010	T	0.73682	0.3618	N	0.17800	0.525	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.68131	-0.5490	10	0.46703	T	0.11	.	15.2043	0.73165	0.0:0.1401:0.8599:0.0	.	312	P29074	PTN4_HUMAN	T	312	ENSP00000263708:R312T	ENSP00000263708:R312T	R	+	2	0	PTPN4	120394221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.280000	0.65603	2.885000	0.99019	0.655000	0.94253	AGA	PTPN4	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain	ENSG00000088179		0.338	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	-	0.00	32	0	G			120677751	+1	tier1	-	no_errors	ENST00000263708	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	C
PTPRN	5798	genome.wustl.edu	37	2	220155604	220155604	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:220155604G>A	ENST00000295718.2	-	21	2978	c.2738C>T	c.(2737-2739)gCg>gTg	p.A913V	PTPRN_ENST00000423636.2_Missense_Mutation_p.A823V|PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Missense_Mutation_p.A884V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	913	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGTCCTCCCCGCACCATCACT	0.617																																																	0													86.0	75.0	79.0					2																	220155604		2203	4300	6503	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2738C>T	2.37:g.220155604G>A	ENSP00000295718:p.Ala913Val		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A913V	ENST00000295718.2	37	c.2738	CCDS2440.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.043611|4.043611	0.75732|0.75732	.|.	.|.	ENSG00000054356|ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666|ENST00000443981	D;D;D|.	0.81579|.	-1.51;-1.51;-1.51|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.059006|.	0.64402|.	D|.	0.000002|.	T|T	0.31071|0.31071	0.0785|0.0785	N|N	0.01761|0.01761	-0.735|-0.735	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.938|.	P;B|.	0.59643|.	0.861;0.269|.	T|T	0.28170|0.28170	-1.0052|-1.0052	10|5	0.25106|.	T|.	0.35|.	.|.	16.7322|16.7322	0.85438|0.85438	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	884;913|.	Q6NSL1;Q16849|.	.;PTPRN_HUMAN|.	V|W	884;913;884;823|116	ENSP00000386638:A884V;ENSP00000295718:A913V;ENSP00000444244:A823V|.	ENSP00000295718:A913V|.	A|R	-|-	2|1	0|2	PTPRN|PTPRN	219863848|219863848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.807000|0.807000	0.45602|0.45602	9.225000|9.225000	0.95219|0.95219	2.471000|2.471000	0.83476|0.83476	0.561000|0.561000	0.74099|0.74099	GCG|CGG	PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000054356		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0.00	65	0	G			220155604	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	5.00	37	2	SNP	0.999	A
R3HDM2	22864	genome.wustl.edu	37	12	57648738	57648738	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:57648738T>C	ENST00000347140.3	-	24	3139	c.2749A>G	c.(2749-2751)Act>Gct	p.T917A	R3HDM2_ENST00000358907.2_Missense_Mutation_p.T917A|R3HDM2_ENST00000403821.2_Missense_Mutation_p.T951A|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000402412.1_Missense_Mutation_p.T931A|R3HDM2_ENST00000441731.2_Missense_Mutation_p.T612A			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	917						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTCTCAGCAGTCCCACTGTTG	0.622																																																	0													59.0	53.0	55.0					12																	57648738		2203	4300	6503	SO:0001583	missense	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2749A>G	12.37:g.57648738T>C	ENSP00000317903:p.Thr917Ala		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.T917A	ENST00000347140.3	37	c.2749	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421845	0.43020	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.41065	1.01;2.02;2.03;2.02;1.02;1.61;2.02	5.32	5.32	0.75619	.	0.322151	0.31268	N	0.007943	T	0.22126	0.0533	N	0.08118	0	0.30403	N	0.77988	B;B;B;B	0.25272	0.043;0.043;0.043;0.122	B;B;B;B	0.22601	0.016;0.016;0.011;0.04	T	0.13361	-1.0512	10	0.23891	T	0.37	-9.7748	10.7904	0.46429	0.0:0.0:0.1587:0.8413	.	951;931;917;644	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	A	644;917;931;917;612;682;951	ENSP00000377400:T644A;ENSP00000317903:T917A;ENSP00000385839:T931A;ENSP00000351784:T917A;ENSP00000408536:T612A;ENSP00000394676:T682A;ENSP00000385169:T951A	ENSP00000317903:T917A	T	-	1	0	R3HDM2	55935005	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	0.368000	0.20399	2.371000	0.80710	0.533000	0.62120	ACT	R3HDM2	-	NULL	ENSG00000179912		0.622	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	-	0.00	64	0	T	NM_014925		57648738	-1	tier1	-	no_errors	ENST00000347140	ensembl	human	known	74_37	missense	42.55	27	20	SNP	1.000	C
PTPRQ	374462	genome.wustl.edu	37	12	81013218	81013218	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:81013218G>T	ENST00000266688.5	+	36	5274	c.5274G>T	c.(5272-5274)ctG>ctT	p.L1758L				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1804	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CAGGAAAACTGCTTGTGACTT	0.363																																																	0													184.0	140.0	153.0					12																	81013218		692	1591	2283	SO:0001819	synonymous_variant	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5274G>T	12.37:g.81013218G>T				Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L1758	ENST00000266688.5	37	c.5274		12	.	.	.	.	.	.	.	.	.	.	G	8.053	0.766510	0.15983	.	.	ENSG00000139304	ENST00000532722	.	.	.	5.07	2.2	0.27929	.	.	.	.	.	T	0.44095	0.1277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26573	-1.0099	4	.	.	.	.	2.4358	0.04483	0.3757:0.0:0.4094:0.2149	.	.	.	.	F	1459	.	.	C	+	2	0	PTPRQ	79537349	0.995000	0.38212	1.000000	0.80357	0.939000	0.58152	0.205000	0.17356	0.514000	0.28300	0.555000	0.69702	TGC	PTPRQ	-	NULL	ENSG00000139304		0.363	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		-	0.00	79	0	G	NM_001145026		81013218	+1	tier1	-	no_errors	ENST00000266688	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.996	T
RAB11FIP3	9727	genome.wustl.edu	37	16	532543	532543	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:532543A>G	ENST00000262305.4	+	4	1310	c.922A>G	c.(922-924)Agc>Ggc	p.S308G	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S308G|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S12G	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	308					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGTGACGGACAGCGCGTACAT	0.637																																					Melanoma(160;2366 2595 4474 8099)												0													94.0	77.0	83.0					16																	532543		2202	4300	6502	SO:0001583	missense	0			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.922A>G	16.37:g.532543A>G	ENSP00000262305:p.Ser308Gly		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom	p.S308G	ENST00000262305.4	37	c.922	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274056	0.59649	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000449879;ENST00000448401	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.67258	0.2874	L	0.42245	1.32	0.54753	D	0.999986	D;D	0.71674	0.998;0.997	D;D	0.76071	0.987;0.985	T	0.62959	-0.6743	8	0.22706	T	0.39	-26.7571	14.7393	0.69440	1.0:0.0:0.0:0.0	.	12;308	O75154-2;O75154	.;RFIP3_HUMAN	G	308;308;184;12;12;12	.	ENSP00000262305:S308G	S	+	1	0	RAB11FIP3	472544	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.852000	0.92215	2.080000	0.62538	0.533000	0.62120	AGC	RAB11FIP3	-	NULL	ENSG00000090565		0.637	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4	-	0.00	24	0	A	NM_014700		532543	+1	tier1	-	no_errors	ENST00000457159	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G
RAG1	5896	genome.wustl.edu	37	11	36596040	36596040	+	Missense_Mutation	SNP	C	C	T	rs104894289		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:36596040C>T	ENST00000299440.5	+	2	1298	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS; dbSNP:rs104894289). {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:9630231}.|R -> L (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCCGGCCCCGCCAACATCT	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0			GRCh37	CM981692	RAG1	M	rs104894289						40.0	47.0	45.0					11																	36596040		2202	4298	6500	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1186C>T	11.37:g.36596040C>T	ENSP00000299440:p.Arg396Cys		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.R396C	ENST00000299440.5	37	c.1186	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075138	0.55646	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73789	-0.78;-0.78	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87100	0.2178	10	0.87932	D	0	.	12.805	0.57607	0.2723:0.7277:0.0:0.0	.	396	P15918	RAG1_HUMAN	C	396	ENSP00000434610:R396C;ENSP00000299440:R396C	ENSP00000299440:R396C	R	+	1	0	RAG1	36552616	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.638000	0.61353	2.684000	0.91462	0.650000	0.86243	CGC	RAG1	-	NULL	ENSG00000166349		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0.00	47	0	C	NM_000448		36596040	+1	tier1	rs104894289	no_errors	ENST00000299440	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	T
RENBP	5973	genome.wustl.edu	37	X	153208330	153208330	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:153208330G>A	ENST00000393700.3	-	6	744	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RENBP_ENST00000369997.3_Missense_Mutation_p.R208W|RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R222W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	222					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	AGAATCCTCCGGGCGCACCAG	0.677																																																	0													65.0	64.0	64.0					X																	153208330		2202	4299	6501	SO:0001583	missense	0				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.664C>T	X.37:g.153208330G>A	ENSP00000377303:p.Arg222Trp		B4DNZ3|Q96BI6	Missense_Mutation	SNP	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	p.R222W	ENST00000393700.3	37	c.664	CCDS14738.2	X	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971030	0.34754	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.32753	1.51;1.44;1.51	3.92	2.0	0.26442	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.901808	0.09487	U	0.795507	T	0.44265	0.1285	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.999;0.998	P;P	0.58928	0.764;0.848	T	0.37888	-0.9686	10	0.87932	D	0	4.0E-4	11.999	0.53220	0.0:0.5368:0.4632:0.0	.	222;222	P51606-2;P51606	.;RENBP_HUMAN	W	222;222;208	ENSP00000377303:R222W;ENSP00000387811:R222W;ENSP00000359014:R208W	ENSP00000359014:R208W	R	-	1	2	RENBP	152861524	0.000000	0.05858	0.004000	0.12327	0.343000	0.28985	0.182000	0.16900	0.147000	0.19030	0.183000	0.17082	CGG	RENBP	-	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	ENSG00000102032		0.677	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RENBP	HGNC	protein_coding	OTTHUMT00000061103.3	-	0.00	36	0	G	NM_002910		153208330	-1	tier1	-	no_errors	ENST00000393700	ensembl	human	known	74_37	missense	27.50	58	22	SNP	0.004	A
RNF122	79845	genome.wustl.edu	37	8	33406939	33406939	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:33406939G>A	ENST00000256257.1	-	5	743	c.342C>T	c.(340-342)gcC>gcT	p.A114A		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	114						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TGCGGTGAAAGGCGTGTTGGC	0.532																																																	0													131.0	101.0	111.0					8																	33406939		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.342C>T	8.37:g.33406939G>A			Q52LK3	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A114	ENST00000256257.1	37	c.342	CCDS6091.1	8																																																																																			RNF122	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000133874		0.532	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF122	HGNC	protein_coding	OTTHUMT00000376562.1	-	0.00	46	0	G	NM_024787		33406939	-1	tier1	-	no_errors	ENST00000256257	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.998	A
RSPH4A	345895	genome.wustl.edu	37	6	116948791	116948791	+	Splice_Site	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:116948791G>T	ENST00000229554.5	+	3	1058		c.e3-1		RSPH4A_ENST00000368581.4_Splice_Site|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)						axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGTTTCCCCAGGCAGAAAACG	0.398									Kartagener syndrome																																								1	Unknown(1)	kidney(1)											70.0	75.0	74.0					6																	116948791		2199	4297	6496	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.922-1G>T	6.37:g.116948791G>T			B4DSI1|Q3KP24|Q5TD95	Splice_Site	SNP	-	e3-1	ENST00000229554.5	37	c.922-1	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817779	0.32145	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8276	0.85935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RSPH4A	117055484	1.000000	0.71417	0.983000	0.44433	0.156000	0.22039	9.348000	0.97062	2.542000	0.85734	0.591000	0.81541	.	RSPH4A	-	-	ENSG00000111834		0.398	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	-	0.00	55	0	G	NM_001010892	Intron	116948791	+1	tier1	-	no_errors	ENST00000229554	ensembl	human	known	74_37	splice_site	6.45	58	4	SNP	1.000	T
SAP130	79595	genome.wustl.edu	37	2	128699581	128699581	+	Nonstop_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:128699581T>C	ENST00000259235.3	-	20	3275	c.3146A>G	c.(3145-3147)tAg>tGg	p.*1049W	SAP130_ENST00000259234.6_Nonstop_Mutation_p.*1057W|SAP130_ENST00000357702.5_Nonstop_Mutation_p.*1084W	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	0					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTTCTGGGTCTAGACTTTTTC	0.403																																																	0													146.0	137.0	140.0					2																	128699581		2203	4300	6503	SO:0001578	stop_lost	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3146A>G	2.37:g.128699581T>C	ENSP00000259235:p.*1049Serext*31		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonstop_Mutation	SNP	NULL	p.*1084W	ENST00000259235.3	37	c.3251	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	11.73	1.726199	0.30593	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7203	0.40300	0.0:0.1325:0.0:0.8675	.	.	.	.	W	1084;1049;1057	.	.	X	-	2	0	SAP130	128416051	1.000000	0.71417	0.996000	0.52242	0.362000	0.29581	2.654000	0.46699	2.371000	0.80710	0.533000	0.62120	TAG	SAP130	-	NULL	ENSG00000136715		0.403	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3		0.00	21	0	T	NM_024545		128699581	-1			no_errors	ENST00000357702	ensembl	human	known	74_37	nonstop	13.04	20	3	SNP	1.000	C
SCAF8	22828	genome.wustl.edu	37	6	155143418	155143418	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:155143418A>T	ENST00000367178.3	+	16	2377	c.1801A>T	c.(1801-1803)Act>Tct	p.T601S	SCAF8_ENST00000417268.1_Missense_Mutation_p.T601S|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.T667S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	601					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGAGTGGGAAACTGTGAAAAG	0.388																																																	0													91.0	90.0	90.0					6																	155143418		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1801A>T	6.37:g.155143418A>T	ENSP00000356146:p.Thr601Ser		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.T667S	ENST00000367178.3	37	c.1999	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684673	0.68157	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.45668	0.9;0.9;0.89	5.8	5.8	0.92144	.	0.092655	0.49305	U	0.000149	T	0.18882	0.0453	L	0.27053	0.805	0.34375	D	0.692511	B;P;P;P	0.49961	0.0;0.456;0.93;0.456	B;B;P;B	0.49140	0.001;0.175;0.601;0.175	T	0.03483	-1.1032	10	0.09084	T	0.74	.	10.4753	0.44661	0.9276:0.0:0.0724:0.0	.	646;667;679;601	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	S	601;601;667	ENSP00000356146:T601S;ENSP00000413098:T601S;ENSP00000356154:T667S	ENSP00000356146:T601S	T	+	1	0	SCAF8	155185110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.247000	0.58750	2.216000	0.71823	0.528000	0.53228	ACT	SCAF8	-	NULL	ENSG00000213079		0.388	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	-	0.00	80	0	A	NM_014892		155143418	+1	tier1	-	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38924792	38924792	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:38924792G>T	ENST00000302328.3	-	18	3349	c.3151C>A	c.(3151-3153)Caa>Aaa	p.Q1051K	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q1051K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q1013K|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q1051K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1051					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACTATTTGGTAGCAGGTT	0.463																																																	0													120.0	110.0	114.0					3																	38924792		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3151C>A	3.37:g.38924792G>T	ENSP00000307599:p.Gln1051Lys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.Q1051K	ENST00000302328.3	37	c.3151	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021748	0.19433	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	3.66	0.41972	Sodium ion transport-associated (1);	0.133751	0.52532	D	0.000067	T	0.72317	0.3445	L	0.41415	1.275	0.35990	D	0.836644	B	0.12013	0.005	B	0.14578	0.011	T	0.66452	-0.5920	10	0.02654	T	1	.	13.4471	0.61146	0.0:0.0:0.5723:0.4277	.	1051	Q9UI33	SCNBA_HUMAN	K	1051;1051;1013;1051	ENSP00000307599:Q1051K;ENSP00000400945:Q1051K;ENSP00000416757:Q1013K;ENSP00000408028:Q1051K	ENSP00000307599:Q1051K	Q	-	1	0	SCN11A	38899796	0.646000	0.27295	1.000000	0.80357	0.978000	0.69477	0.724000	0.25954	1.470000	0.48102	-0.181000	0.13052	CAA	SCN11A	-	pfam_Na_trans_assoc	ENSG00000168356		0.463	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0.00	68	0	G	NM_014139		38924792	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	42.55	27	20	SNP	0.974	T
SCN11A	11280	genome.wustl.edu	37	3	38938526	38938526	+	Missense_Mutation	SNP	G	G	T	rs140995438	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:38938526G>T	ENST00000302328.3	-	14	2411	c.2213C>A	c.(2212-2214)cCg>cAg	p.P738Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.P738Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.P738Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.P738Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	738					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P738Q(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGGGCCTGTCGGGTTACAGAG	0.498																																																	1	Substitution - Missense(1)	lung(1)											100.0	92.0	95.0					3																	38938526		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2213C>A	3.37:g.38938526G>T	ENSP00000307599:p.Pro738Gln		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.P738Q	ENST00000302328.3	37	c.2213	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.167832	0.01660	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96232	-3.95;-3.95;-3.89;-3.76	0.225	-0.451	0.12214	Ion transport (1);	17.326200	0.00166	U	0.000001	D	0.95050	0.8397	M	0.81112	2.525	0.09310	N	1	B	0.31730	0.337	B	0.24974	0.057	T	0.81839	-0.0748	10	0.87932	D	0	.	4.3094	0.10964	0.305:0.0:0.695:0.0	.	738	Q9UI33	SCNBA_HUMAN	Q	738	ENSP00000307599:P738Q;ENSP00000400945:P738Q;ENSP00000416757:P738Q;ENSP00000408028:P738Q	ENSP00000307599:P738Q	P	-	2	0	SCN11A	38913530	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.572000	0.05881	-0.709000	0.05008	-0.704000	0.03662	CCG	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0.00	70	0	G	NM_014139		38938526	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	9.09	49	5	SNP	0.002	T
SCN9A	6335	genome.wustl.edu	37	2	167056010	167056010	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:167056010G>T	ENST00000409435.1	-	26	5138	c.5139C>A	c.(5137-5139)ccC>ccA	p.P1713P	SCN9A_ENST00000375387.4_Silent_p.P1714P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.P1714P|SCN9A_ENST00000409672.1_Silent_p.P1702P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1713					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCACAGTCGGGTGGCTTAC	0.408																																																	0													218.0	233.0	228.0					2																	167056010		2203	4299	6502	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5139C>A	2.37:g.167056010G>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.P1714	ENST00000409435.1	37	c.5142	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000169432		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1		0.00	55	0	G	NM_002977		167056010	-1			no_errors	ENST00000303354	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.002	T
SEMA3A	10371	genome.wustl.edu	37	7	83643617	83643617	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:83643617C>G	ENST00000265362.4	-	7	1032	c.718G>C	c.(718-720)Gat>Cat	p.D240H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D240H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	240	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACTTTGTCATCTTCAGGATTG	0.368																																																	0													87.0	85.0	85.0					7																	83643617		2203	4300	6503	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.718G>C	7.37:g.83643617C>G	ENSP00000265362:p.Asp240His			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D240H	ENST00000265362.4	37	c.718	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971421	0.92919	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.16897	2.31;2.31	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65792	-0.6082	10	0.87932	D	0	.	19.615	0.95630	0.0:1.0:0.0:0.0	.	240	Q14563	SEM3A_HUMAN	H	240	ENSP00000265362:D240H;ENSP00000415260:D240H	ENSP00000265362:D240H	D	-	1	0	SEMA3A	83481553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GAT	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.368	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0.00	55	0	C	NM_006080		83643617	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	G
SERPINB10	5273	genome.wustl.edu	37	18	61602418	61602420	+	In_Frame_Del	DEL	TCA	TCA	-	rs144013553		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:61602418_61602420delTCA	ENST00000238508.3	+	8	1195_1197	c.1136_1138delTCA	c.(1135-1140)ttcatc>ttc	p.I380del	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	380					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTCCTCTTCTTCATCAGGCACAA	0.409																																																	0																																										SO:0001651	inframe_deletion	0			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.1136_1138delTCA	18.37:g.61602421_61602423delTCA	ENSP00000238508:p.Ile380del		Q4VAX4|Q4VAX7	In_Frame_Del	DEL	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I380in_frame_del	ENST00000238508.3	37	c.1136_1138	CCDS11990.1	18																																																																																			SERPINB10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000242550		0.409	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3		0.00	30	0	TCA	NM_005024		61602420	+1	tier1		no_errors	ENST00000238508	ensembl	human	known	74_37	in_frame_del	18.18	9	2	DEL	1.000:1.000:1.000	-
SETDB1	9869	genome.wustl.edu	37	1	150913897	150913897	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:150913897G>A	ENST00000271640.5	+	5	730	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SETDB1_ENST00000368962.2_Silent_p.L180L|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Silent_p.L180L|SETDB1_ENST00000368969.4_Silent_p.L180L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	180					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCAGGATCTGCATAAAGGTT	0.423																																																	0													79.0	69.0	73.0					1																	150913897		2203	4300	6503	SO:0001819	synonymous_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.540G>A	1.37:g.150913897G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.L180	ENST00000271640.5	37	c.540	CCDS44217.1	1																																																																																			SETDB1	-	NULL	ENSG00000143379		0.423	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0.00	55	0	G			150913897	+1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.006	A
SHPRH	257218	genome.wustl.edu	37	6	146275889	146275889	+	Frame_Shift_Del	DEL	C	C	-	rs201269436	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:146275889delC	ENST00000367505.2	-	2	834	c.570delG	c.(568-570)gggfs	p.G190fs	SHPRH_ENST00000438092.2_Frame_Shift_Del_p.G190fs|SHPRH_ENST00000367503.3_Frame_Shift_Del_p.G190fs|SHPRH_ENST00000275233.7_Frame_Shift_Del_p.G190fs			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTGTAGCCACCCCAAATCTT	0.373																																																	0													117.0	112.0	113.0					6																	146275889		1844	4102	5946	SO:0001589	frameshift_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.570delG	6.37:g.146275889delC	ENSP00000356475:p.Gly190fs		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.W191fs	ENST00000367505.2	37	c.570	CCDS43513.2	6																																																																																			SHPRH	-	NULL	ENSG00000146414		0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2		0.00	38	0	C	NM_173082		146275889	-1	tier1		no_errors	ENST00000367503	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.000	-
SKI	6497	genome.wustl.edu	37	1	2160898	2160898	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:2160898G>T	ENST00000378536.4	+	1	765	c.693G>T	c.(691-693)ctG>ctT	p.L231L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	231					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTAAGGGGCTGCTGGTGCCCG	0.677																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													15.0	19.0	18.0					1																	2160898		2192	4277	6469	SO:0001819	synonymous_variant	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.693G>T	1.37:g.2160898G>T			Q5SYT7	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.L231	ENST00000378536.4	37	c.693	CCDS39.1	1																																																																																			SKI	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like	ENSG00000157933		0.677	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	-	0.00	51	0	G	NM_003036		2160898	+1	tier1	-	no_errors	ENST00000378536	ensembl	human	known	74_37	silent	48.53	35	33	SNP	1.000	T
SLC25A3P1	163742	genome.wustl.edu	37	1	53904088	53904088	+	RNA	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:53904088C>T	ENST00000566100.1	-	0	1150									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		CACGGGAGGGCGAGGCAGCTT	0.572																																																	0																																												0					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904088C>T				RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-	ENSG00000236253		0.572	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	-	0.00	36	0	C	NM_178501		53904088	-1	tier1	-	no_errors	ENST00000566100	ensembl	human	known	74_37	rna	13.16	33	5	SNP	0.994	T
SLC25A3P1	163742	genome.wustl.edu	37	1	53904463	53904463	+	RNA	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:53904463C>T	ENST00000566100.1	-	0	775									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		AGCGGCGCCACGCCCTTGTAG	0.662																																																	0																																												0					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904463C>T				RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-	ENSG00000236253		0.662	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	-	0.00	30	0	C	NM_178501		53904463	-1	tier1	-	no_errors	ENST00000562700	ensembl	human	known	74_37	rna	19.05	17	4	SNP	1.000	T
SLC2A9	56606	genome.wustl.edu	37	4	9892247	9892247	+	Missense_Mutation	SNP	G	G	T	rs376668342		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:9892247G>T	ENST00000264784.3	-	9	1255	c.1202C>A	c.(1201-1203)aCg>aAg	p.T401K	SLC2A9_ENST00000506583.1_Missense_Mutation_p.T372K|SLC2A9_ENST00000309065.3_Missense_Mutation_p.T372K	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	401					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGGGTCAGCGTGATGGTGAG	0.542																																																	0													109.0	94.0	99.0					4																	9892247		2203	4300	6503	SO:0001583	missense	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1202C>A	4.37:g.9892247G>T	ENSP00000264784:p.Thr401Lys		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.T401K	ENST00000264784.3	37	c.1202	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	G	7.710	0.694911	0.15039	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.80994	-0.92;-1.44;-0.92	4.99	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.297366	0.37437	N	0.002100	D	0.84593	0.5506	M	0.78456	2.415	0.09310	N	1	P;P	0.39759	0.638;0.687	B;P	0.47470	0.332;0.548	T	0.77474	-0.2574	10	0.72032	D	0.01	.	12.4633	0.55743	0.0897:0.0:0.9103:0.0	.	372;401	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	K	372;401;372	ENSP00000422209:T372K;ENSP00000264784:T401K;ENSP00000311383:T372K	ENSP00000264784:T401K	T	-	2	0	SLC2A9	9501345	0.367000	0.25023	0.001000	0.08648	0.298000	0.27526	3.261000	0.51530	0.529000	0.28599	-1.134000	0.01955	ACG	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000109667		0.542	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	-	0.00	55	0	G			9892247	-1	tier1	-	no_errors	ENST00000264784	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.001	T
SLC46A1	113235	genome.wustl.edu	37	17	26727724	26727724	+	Missense_Mutation	SNP	T	T	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:26727724T>G	ENST00000440501.1	-	4	1320	c.1225A>C	c.(1225-1227)Att>Ctt	p.I409L	SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Splice_Site	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	409					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	AGTTGAAGAATGCCGGAGGCC	0.542																																																	0													30.0	38.0	35.0					17																	26727724		2068	4232	6300	SO:0001583	missense	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1225A>C	17.37:g.26727724T>G	ENSP00000395653:p.Ile409Leu		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Splice_Site	SNP	-	e3+1	ENST00000440501.1	37	c.1140+1		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.85|13.85	2.360801|2.360801	0.41801|0.41801	.|.	.|.	ENSG00000076351|ENSG00000076351	ENST00000321666|ENST00000440501	.|T	.|0.79749	.|-1.3	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|.	.|.	.|.	.|.	.|T	.|0.59390	.|0.2190	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21905	.|0.062;0.009	.|B;B	.|0.28709	.|0.093;0.011	.|T	.|0.55496	.|-0.8132	.|8	.|0.02654	.|T	.|1	.|-28.2885	5.946|5.946	0.19219|0.19219	0.0:0.2039:0.0:0.7961|0.0:0.2039:0.0:0.7961	.|.	.|381;409	.|Q96NT5-2;Q96NT5	.|.;PCFT_HUMAN	.|L	-1|409	.|ENSP00000395653:I409L	.|ENSP00000395653:I409L	.|I	-|-	.|1	.|0	SLC46A1|SLC46A1	23751851|23751851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.870000|1.870000	0.39529|0.39529	2.120000|2.120000	0.65058|0.65058	0.460000|0.460000	0.39030|0.39030	.|ATT	SLC46A1	-	-	ENSG00000076351		0.542	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding			0.00	130	0	T	NM_080669		26727724	-1			no_errors	ENST00000321666	ensembl	human	known	74_37	splice_site	7.32	114	9	SNP	0.999	G
SLC9A5	6553	genome.wustl.edu	37	16	67304865	67304865	+	Silent	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:67304865C>T	ENST00000299798.11	+	16	2508	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	815					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCTGACCTGCCTGCCTCCCCA	0.622																																																	0													70.0	76.0	74.0					16																	67304865		2049	4181	6230	SO:0001819	synonymous_variant	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2443C>T	16.37:g.67304865C>T			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L815	ENST00000299798.11	37	c.2443	CCDS42178.1	16																																																																																			SLC9A5	-	NULL	ENSG00000135740		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1		0.00	96	0	C			67304865	+1			no_errors	ENST00000299798	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.439	T
SLITRK3	22865	genome.wustl.edu	37	3	164907746	164907746	+	Silent	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:164907746A>T	ENST00000475390.1	-	2	1316	c.873T>A	c.(871-873)gcT>gcA	p.A291A	SLITRK3_ENST00000241274.3_Silent_p.A291A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	291					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCCCAAACTAGCCTCTACCT	0.458										HNSCC(40;0.11)																																							0													97.0	102.0	100.0					3																	164907746		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.873T>A	3.37:g.164907746A>T			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A291	ENST00000475390.1	37	c.873	CCDS3197.1	3																																																																																			SLITRK3	-	NULL	ENSG00000121871		0.458	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0.00	67	0	A	NM_014926		164907746	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T
SLITRK4	139065	genome.wustl.edu	37	X	142717585	142717585	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:142717585C>A	ENST00000381779.4	-	2	1565	c.1340G>T	c.(1339-1341)gGt>gTt	p.G447V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G447V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G447V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	447						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTTATGAAGACCTGAAAATAT	0.368																																																	0													61.0	58.0	59.0					X																	142717585		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1340G>T	X.37:g.142717585C>A	ENSP00000371198:p.Gly447Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G447V	ENST00000381779.4	37	c.1340	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076602	0.55753	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.60672	0.17;0.17;0.17	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80334	-0.1426	10	0.87932	D	0	-7.2719	16.8528	0.85998	0.0:1.0:0.0:0.0	.	447	Q8IW52	SLIK4_HUMAN	V	447	ENSP00000371198:G447V;ENSP00000349400:G447V;ENSP00000336627:G447V	ENSP00000336627:G447V	G	-	2	0	SLITRK4	142545251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.384000	0.81235	0.594000	0.82650	GGT	SLITRK4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000179542		0.368	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0.00	33	0	C	NM_173078		142717585	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25490534	25490534	+	RNA	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:25490534C>A	ENST00000453082.2	+	0	2685				SNORD115-41_ENST00000363608.1_RNA|SNORD115-40_ENST00000606510.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGCTCAGACCCTCCGTGGCAC	0.612																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25490534C>A				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.612	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126730.2	-	0.00	43	0	C			25490534	+1	tier1	-	no_errors	ENST00000453082	ensembl	human	known	74_37	rna	61.11	14	22	SNP	0.000	A
RPS2	6187	genome.wustl.edu	37	16	2012996	2012997	+	Intron	DEL	AG	AG	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:2012996_2012997delAG	ENST00000343262.4	-	5	432				SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000529806.1_Intron|SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000530225.1_Intron|RPS2_ENST00000526522.1_Intron|SNORA10_ENST00000384084.1_RNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCTCAAGGAAAGAGAGGCCACA	0.559																																																	0																																										SO:0001627	intron_variant	0			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.376-86CT>-	16.37:g.2013000_2013001delAG			B2R5G0|D3DU82|Q3MIB1	RNA	DEL	-	NULL	ENST00000343262.4	37	NULL	CCDS10452.1	16																																																																																			SNORA64	-	-	ENSG00000207405		0.559	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA64	HGNC	protein_coding	OTTHUMT00000250613.2		0.00	83	0	AG	NM_002952		2012997	-1	tier1		no_errors	ENST00000384674	ensembl	human	known	74_37	rna	24.24	50	16	DEL	0.331:0.320	-
SNHG14	104472715	genome.wustl.edu	37	15	25468394	25468394	+	RNA	SNP	G	G	T	rs564840815	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:25468394G>T	ENST00000424208.1	+	0	6332				SNORD115-27_ENST00000364430.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-28_ENST00000363931.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-30_ENST00000364117.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTCTGGGTTGGGTCAATGATG	0.527																																																	0													280.0	313.0	303.0					15																	25468394		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25468394G>T				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-29	-	-	ENSG00000199704		0.527	SNHG14-002	KNOWN	basic	antisense	SNORD115-29	HGNC	processed_transcript	OTTHUMT00000126729.2	-	0.00	97	0	G			25468394	+1	tier1	-	no_errors	ENST00000362834	ensembl	human	known	74_37	rna	40.94	75	52	SNP	0.677	T
RILPL1	353116	genome.wustl.edu	37	12	123956336	123956337	+	3'UTR	INS	-	-	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:123956336_123956337insA	ENST00000376874.4	-	0	2195_2196				SNRNP35_ENST00000527158.2_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AAGATGTCAGGAAAAAAAAGTG	0.426																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.*749->T	12.37:g.123956344_123956344dupA			Q66K36|Q8N1M0	RNA	INS	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			SNRNP35	-	-	ENSG00000184209		0.426	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000400595.1		0.00	47	0	-	NM_178314		123956337	+1	tier1		no_errors	ENST00000527158	ensembl	human	known	74_37	rna	11.43	31	4	INS	0.000:0.000	A
SPPL2C	162540	genome.wustl.edu	37	17	43923001	43923001	+	Silent	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:43923001T>C	ENST00000329196.5	+	1	746	c.729T>C	c.(727-729)gaT>gaC	p.D243D	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	243						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										AGAAGGAAGATAATGAGGACA	0.612																																																	0													60.0	60.0	60.0					17																	43923001		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.729T>C	17.37:g.43923001T>C			Q8TC67|Q8WVZ6	Silent	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.D243	ENST00000329196.5	37	c.729	CCDS32673.1	17																																																																																			SPPL2C	-	NULL	ENSG00000185294		0.612	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	-	0.00	49	0	T	NM_175882		43923001	+1	tier1	-	no_errors	ENST00000329196	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.003	C
SS18	6760	genome.wustl.edu	37	18	23618524	23618524	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:23618524G>T	ENST00000415083.2	-	7	930	c.875C>A	c.(874-876)cCt>cAt	p.P292H	SS18_ENST00000269137.7_Missense_Mutation_p.P292H|SS18_ENST00000545952.1_Missense_Mutation_p.P240H|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542743.1_Missense_Mutation_p.P240H|SS18_ENST00000542420.2_Missense_Mutation_p.P269H|SS18_ENST00000539849.1_Missense_Mutation_p.P210H	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	292	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.P292H(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATTACCATCAGGGTAATATTG	0.438			T	"""SSX1,  SSX2"""	synovial sarcoma																																			Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	1	Substitution - Missense(1)	lung(1)											186.0	174.0	178.0					18																	23618524		2203	4300	6503	SO:0001583	missense	0			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.875C>A	18.37:g.23618524G>T	ENSP00000414516:p.Pro292His		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	pfam_SS18_fam	p.P292H	ENST00000415083.2	37	c.875	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369198	0.61624	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.36699	1.45;1.27;1.41;1.24;1.41	5.66	3.86	0.44501	.	0.291702	0.38164	N	0.001784	T	0.47838	0.1467	L	0.39898	1.24	0.58432	D	0.999998	P;P;D	0.89917	0.697;0.553;1.0	B;B;D	0.69142	0.339;0.258;0.962	T	0.43261	-0.9402	10	0.59425	D	0.04	-4.2867	11.8585	0.52453	0.0664:0.1229:0.8107:0.0	.	240;292;292	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	H	295;292;292;269;240;210;240;7	ENSP00000269137:P292H;ENSP00000438066:P269H;ENSP00000444551:P240H;ENSP00000444647:P210H;ENSP00000443097:P240H	ENSP00000269137:P292H	P	-	2	0	SS18	21872522	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.621000	0.74228	0.844000	0.35094	-0.150000	0.13652	CCT	SS18	-	NULL	ENSG00000141380		0.438	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	HGNC	protein_coding	OTTHUMT00000446226.1	-	0.00	84	0	G			23618524	-1	tier1	-	no_errors	ENST00000415083	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
ST5	6764	genome.wustl.edu	37	11	8719178	8719178	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:8719178G>A	ENST00000534127.1	-	20	3331	c.2946C>T	c.(2944-2946)gaC>gaT	p.D982D	ST5_ENST00000526757.1_Silent_p.D562D|ST5_ENST00000534278.1_Silent_p.D173D|ST5_ENST00000313726.6_Silent_p.D982D|ST5_ENST00000357665.1_Silent_p.D982D|ST5_ENST00000530438.1_Silent_p.D562D|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Silent_p.D454D|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Silent_p.D495D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	982					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D982D(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGTCTTCGTCGTCCATCTGCA	0.493																																																	1	Substitution - coding silent(1)	large_intestine(1)											116.0	89.0	98.0					11																	8719178		2201	4296	6497	SO:0001819	synonymous_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2946C>T	11.37:g.8719178G>A			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D982	ENST00000534127.1	37	c.2946	CCDS7791.1	11																																																																																			ST5	-	NULL	ENSG00000166444		0.493	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1		0.00	43	0	G	NM_005418		8719178	-1			no_errors	ENST00000313726	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.995	A
SURF2	6835	genome.wustl.edu	37	9	136227218	136227218	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:136227218G>T	ENST00000371964.4	+	5	636	c.595G>T	c.(595-597)Gat>Tat	p.D199Y		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	199						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGACAAAGAGGATGAGAAGGC	0.562																																																	0													140.0	127.0	131.0					9																	136227218		2203	4300	6503	SO:0001583	missense	0				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.595G>T	9.37:g.136227218G>T	ENSP00000361032:p.Asp199Tyr		Q6IBP9|Q96CD1	Missense_Mutation	SNP	pfam_Surf2	p.D199Y	ENST00000371964.4	37	c.595	CCDS6967.1	9	.	.	.	.	.	.	.	.	.	.	g	15.75	2.927026	0.52759	.	.	ENSG00000148291	ENST00000371964	T	0.38560	1.13	4.04	3.14	0.36123	.	0.344691	0.29940	N	0.010807	T	0.53658	0.1810	M	0.75447	2.3	0.22745	N	0.998787	P	0.48589	0.912	P	0.53988	0.739	T	0.48139	-0.9061	10	0.87932	D	0	-8.7091	9.4759	0.38871	0.1031:0.0:0.8969:0.0	.	199	Q15527	SURF2_HUMAN	Y	199	ENSP00000361032:D199Y	ENSP00000361032:D199Y	D	+	1	0	SURF2	135217039	0.999000	0.42202	0.003000	0.11579	0.005000	0.04900	2.539000	0.45718	0.986000	0.38683	0.457000	0.33378	GAT	SURF2	-	pfam_Surf2	ENSG00000148291		0.562	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1		0.00	67	0	G	NM_017503		136227218	+1			no_errors	ENST00000371964	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.319	T
SYNJ1	8867	genome.wustl.edu	37	21	34011255	34011255	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:34011255G>T	ENST00000322229.7	-	30	3877	c.3878C>A	c.(3877-3879)tCc>tAc	p.S1293Y	SYNJ1_ENST00000382499.2_Missense_Mutation_p.S1332Y|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1246Y|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1332Y|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1277Y			O43426	SYNJ1_HUMAN	synaptojanin 1	1293	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAGCTATGGGATGACCTGCT	0.468																																																	0													215.0	221.0	219.0					21																	34011255		2203	4300	6503	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3878C>A	21.37:g.34011255G>T	ENSP00000322234:p.Ser1293Tyr		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S1332Y	ENST00000322229.7	37	c.3995	CCDS54484.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.814500|3.814500	0.70912|0.70912	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000418301|ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	.|D;D;D;D;D	.|0.95412	.|-3.07;-3.7;-3.56;-2.78;-2.83	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.209202	.|0.52532	.|D	.|0.000080	D|D	0.97371|0.97371	0.9140|0.9140	M|M	0.63843|0.63843	1.955|1.955	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D;D;D;D	.|0.76494	.|0.971;0.989;0.999;0.999;0.983	.|P;P;D;D;P	.|0.85130	.|0.691;0.768;0.939;0.997;0.837	D|D	0.97692|0.97692	1.0179|1.0179	5|10	.|0.87932	.|D	.|0	.|.	19.8667|19.8667	0.96806|0.96806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1246;1332;1293;1293;1277	.|B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.|.;.;.;SYNJ1_HUMAN;.	T|Y	114|1246;1277;1332;1332;1293	.|ENSP00000371931:S1246Y;ENSP00000349903:S1277Y;ENSP00000371939:S1332Y;ENSP00000409667:S1332Y;ENSP00000322234:S1293Y	.|ENSP00000322234:S1293Y	P|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933126|32933126	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.977000|0.977000	0.68977|0.68977	7.064000|7.064000	0.76721|0.76721	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CCC|TCC	SYNJ1	-	NULL	ENSG00000159082		0.468	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0.00	94	0	G			34011255	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
TANC1	85461	genome.wustl.edu	37	2	160035233	160035233	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:160035233G>T	ENST00000263635.6	+	14	2306	c.2069G>T	c.(2068-2070)gGa>gTa	p.G690V	TANC1_ENST00000454300.1_Missense_Mutation_p.G584V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	690					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.G690E(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACACTCATTGGAAAAGTGAGC	0.582																																																	1	Substitution - Missense(1)	central_nervous_system(1)											53.0	57.0	55.0					2																	160035233		2133	4235	6368	SO:0001583	missense	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2069G>T	2.37:g.160035233G>T	ENSP00000263635:p.Gly690Val		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G690V	ENST00000263635.6	37	c.2069	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394549	0.42512	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70399	-0.47;-0.48	5.91	5.01	0.66863	.	0.206543	0.50627	D	0.000114	T	0.72342	0.3448	M	0.66939	2.045	0.80722	D	1	B;B;B	0.25850	0.061;0.101;0.136	B;B;B	0.31495	0.062;0.131;0.091	T	0.71781	-0.4489	10	0.62326	D	0.03	.	16.3948	0.83586	0.0:0.1603:0.8397:0.0	.	682;584;690	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	V	584;690	ENSP00000396339:G584V;ENSP00000263635:G690V	ENSP00000263635:G690V	G	+	2	0	TANC1	159743479	0.998000	0.40836	0.992000	0.48379	0.711000	0.40976	5.323000	0.65858	1.408000	0.46895	0.655000	0.94253	GGA	TANC1	-	NULL	ENSG00000115183		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0.00	51	0	G			160035233	+1			no_errors	ENST00000263635	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T
TANC2	26115	genome.wustl.edu	37	17	61086934	61086934	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:61086934G>A	ENST00000424789.2	+	1	18	c.14G>A	c.(13-15)aGt>aAt	p.S5N	TANC2_ENST00000389520.4_Missense_Mutation_p.S5N	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	5					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTTCGGAATAGTCTCAAGATG	0.333																																																	0													161.0	158.0	159.0					17																	61086934		1857	4108	5965	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.14G>A	17.37:g.61086934G>A	ENSP00000387593:p.Ser5Asn		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S5N	ENST00000424789.2	37	c.14	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863167	0.71949	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69175	-0.38;-0.38	5.61	5.61	0.85477	.	.	.	.	.	T	0.63450	0.2512	N	0.08118	0	0.34710	D	0.727648	D	0.54601	0.967	P	0.57776	0.827	T	0.74565	-0.3623	9	0.54805	T	0.06	.	16.5663	0.84599	0.0:0.0:1.0:0.0	.	5	Q9HCD6	TANC2_HUMAN	N	5	ENSP00000374171:S5N;ENSP00000387593:S5N	ENSP00000374171:S5N	S	+	2	0	TANC2	58440666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	2.652000	0.90054	0.484000	0.47621	AGT	TANC2	-	NULL	ENSG00000170921		0.333	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	-	0.00	71	0	G			61086934	+1	tier1	-	no_errors	ENST00000424789	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	A
TAS1R2	80834	genome.wustl.edu	37	1	19180792	19180792	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:19180792G>A	ENST00000375371.3	-	3	1193	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	391					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCATAGACCGCAGAGTACAC	0.607																																																	0													101.0	90.0	93.0					1																	19180792		2203	4300	6503	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1172C>T	1.37:g.19180792G>A	ENSP00000364520:p.Ala391Val		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.A391V	ENST00000375371.3	37	c.1172	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137616	0.56936	.	.	ENSG00000179002	ENST00000375371	D	0.94497	-3.44	4.31	4.31	0.51392	Extracellular ligand-binding receptor (1);	0.508750	0.16419	N	0.215258	D	0.97445	0.9164	M	0.91300	3.195	0.53005	D	0.999962	D	0.76494	0.999	D	0.63597	0.916	D	0.98139	1.0435	10	0.87932	D	0	.	14.3114	0.66419	0.0:0.0:1.0:0.0	.	391	Q8TE23	TS1R2_HUMAN	V	391	ENSP00000364520:A391V	ENSP00000364520:A391V	A	-	2	0	TAS1R2	19053379	1.000000	0.71417	0.146000	0.22360	0.111000	0.19643	8.987000	0.93497	2.230000	0.72887	0.462000	0.41574	GCG	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.607	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	-	0.00	45	0	G			19180792	-1	tier1	-	no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	12.50	35	5	SNP	0.927	A
TBL3	10607	genome.wustl.edu	37	16	2025698	2025698	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:2025698G>A	ENST00000568546.1	+	10	1102	c.974G>A	c.(973-975)cGg>cAg	p.R325Q		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	325					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CGCTCCCTGCGGCTGCAGAAA	0.667																																					Melanoma(118;616 1651 35077 38081 48633)												0													38.0	39.0	39.0					16																	2025698		2198	4300	6498	SO:0001583	missense	0			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.974G>A	16.37:g.2025698G>A	ENSP00000454836:p.Arg325Gln		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R325Q	ENST00000568546.1	37	c.974	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	1.127	-0.653606	0.03480	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.07	-2.88	0.05682	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	1.077940	0.07105	N	0.841157	T	0.17916	0.0430	N	0.04203	-0.255	0.21553	N	0.999644	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35549	-0.9784	9	0.02654	T	1	-7.2	12.517	0.56038	0.4377:0.0:0.5623:0.0	.	87;325	A0JLS5;Q12788	.;TBL3_HUMAN	Q	325	.	ENSP00000331815:R325Q	R	+	2	0	TBL3	1965699	0.002000	0.14202	0.076000	0.20297	0.140000	0.21249	-0.038000	0.12144	-0.476000	0.06842	-0.218000	0.12543	CGG	TBL3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.667	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	-	0.00	26	0	G	NM_006453		2025698	+1	tier1	-	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.498	A
TBR1	10716	genome.wustl.edu	37	2	162273517	162273517	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:162273517T>C	ENST00000389554.3	+	1	913	c.596T>C	c.(595-597)cTg>cCg	p.L199P	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	199					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAGCCGGGGCTGGTGCCCGGC	0.602																																																	0													55.0	59.0	58.0					2																	162273517		2203	4300	6503	SO:0001583	missense	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.596T>C	2.37:g.162273517T>C	ENSP00000374205:p.Leu199Pro		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L199P	ENST00000389554.3	37	c.596	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862579	0.32884	.	.	ENSG00000136535	ENST00000389554	D	0.88509	-2.39	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000017	D	0.85919	0.5809	N	0.12746	0.255	0.80722	D	1	D	0.61080	0.989	P	0.56278	0.795	D	0.85522	0.1204	10	0.30078	T	0.28	.	14.3626	0.66782	0.0:0.0:0.0:1.0	.	199	Q16650	TBR1_HUMAN	P	199	ENSP00000374205:L199P	ENSP00000374205:L199P	L	+	2	0	TBR1	161981763	1.000000	0.71417	0.981000	0.43875	0.798000	0.45092	6.085000	0.71343	2.261000	0.74972	0.533000	0.62120	CTG	TBR1	-	NULL	ENSG00000136535		0.602	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1		0.00	74	0	T	NM_006593		162273517	+1			no_errors	ENST00000389554	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C
TBX1	6899	genome.wustl.edu	37	22	19766827	19766827	+	Missense_Mutation	SNP	C	C	T	rs149975157		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:19766827C>T	ENST00000329705.7	+	9	1223	c.1094C>T	c.(1093-1095)gCa>gTa	p.A365V	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	365					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CTGAGGGATGCAGGTGGCTGT	0.592																																																	0								C	,VAL/ALA	0,4406		0,0,2203	90.0	79.0	83.0		,1094	-3.9	0.0	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TBX1	NM_005992.1,NM_080646.1	,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,365/399	19766827	1,13005	2203	4300	6503	SO:0001583	missense	0			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1094C>T	22.37:g.19766827C>T	ENSP00000331176:p.Ala365Val		C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.A365V	ENST00000329705.7	37	c.1094	CCDS13766.1	22	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803161	0.16397	0.0	1.16E-4	ENSG00000184058	ENST00000329705	D	0.86865	-2.18	1.97	-3.93	0.04143	.	.	.	.	.	T	0.68192	0.2974	N	0.24115	0.695	0.09310	N	1	P	0.44734	0.842	B	0.28849	0.095	T	0.61242	-0.7102	9	0.45353	T	0.12	.	4.5011	0.11865	0.2439:0.4108:0.3453:0.0	.	365	O43435	TBX1_HUMAN	V	365	ENSP00000331176:A365V	ENSP00000331176:A365V	A	+	2	0	TBX1	18146827	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.396000	0.02513	-1.283000	0.02393	-0.884000	0.02946	GCA	TBX1	-	NULL	ENSG00000184058		0.592	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBX1	HGNC	protein_coding	OTTHUMT00000318033.1		0.00	71	0	C	NM_080647		19766827	+1			no_errors	ENST00000329705	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T
TEP1	7011	genome.wustl.edu	37	14	20876111	20876111	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:20876111G>A	ENST00000262715.5	-	2	528	c.488C>T	c.(487-489)tCt>tTt	p.S163F	TEP1_ENST00000556935.1_Missense_Mutation_p.S163F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	163					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TAGTCCCTTAGAGAAATGCTG	0.488																																																	0													182.0	179.0	180.0					14																	20876111		2203	4300	6503	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.488C>T	14.37:g.20876111G>A	ENSP00000262715:p.Ser163Phe		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S163F	ENST00000262715.5	37	c.488	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947430	0.34377	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.54866	0.67;0.55;1.34	4.6	3.69	0.42338	.	0.304180	0.24452	N	0.038418	T	0.41604	0.1166	L	0.32530	0.975	0.45806	D	0.998688	P;P	0.48016	0.904;0.845	B;B	0.43082	0.407;0.231	T	0.31503	-0.9941	10	0.49607	T	0.09	-0.4933	9.1318	0.36850	0.1021:0.0:0.8979:0.0	.	163;163	G3V5X7;Q99973	.;TEP1_HUMAN	F	163	ENSP00000262715:S163F;ENSP00000452574:S163F;ENSP00000452240:S163F	ENSP00000262715:S163F	S	-	2	0	TEP1	19945951	0.539000	0.26402	0.551000	0.28230	0.044000	0.14063	1.324000	0.33712	1.261000	0.44149	0.460000	0.39030	TCT	TEP1	-	NULL	ENSG00000129566		0.488	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0.00	71	0	G	NM_007110		20876111	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.584	A
TGFBRAP1	9392	genome.wustl.edu	37	2	105886008	105886008	+	Silent	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:105886008T>A	ENST00000393359.2	-	11	2553	c.2127A>T	c.(2125-2127)ccA>ccT	p.P709P	TGFBRAP1_ENST00000258449.1_Silent_p.P709P			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	709					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GGCGGTGGGGTGGGTCTCGGC	0.657																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0													24.0	28.0	26.0					2																	105886008		2202	4300	6502	SO:0001819	synonymous_variant	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2127A>T	2.37:g.105886008T>A			A8K5R7|D3DVJ8|O60466	Silent	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.P709	ENST00000393359.2	37	c.2127	CCDS2067.1	2																																																																																			TGFBRAP1	-	NULL	ENSG00000135966		0.657	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2	-	0.00	44	0	T	NM_004257		105886008	-1	tier1	-	no_errors	ENST00000258449	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.000	A
THOC5	8563	genome.wustl.edu	37	22	29939454	29939454	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:29939454G>T	ENST00000490103.1	-	4	440	c.318C>A	c.(316-318)caC>caA	p.H106Q	THOC5_ENST00000397871.1_Missense_Mutation_p.H106Q|THOC5_ENST00000397872.1_Missense_Mutation_p.H106Q|THOC5_ENST00000397873.2_Missense_Mutation_p.H106Q	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	106	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAACCTGATGTGGGCTAATC	0.418																																																	0													163.0	160.0	161.0					22																	29939454		2203	4300	6503	SO:0001583	missense	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.318C>A	22.37:g.29939454G>T	ENSP00000420306:p.His106Gln		O60839|Q9UPZ5	Missense_Mutation	SNP	pfam_THO_Thoc5	p.H106Q	ENST00000490103.1	37	c.318	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836615	0.50951	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.41758	1.98;1.98;1.98;1.98;0.99	5.62	-0.271	0.12922	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.37561	1.115	0.58432	D	0.999999	B;B	0.30068	0.035;0.267	B;B	0.34385	0.045;0.181	T	0.17868	-1.0355	10	0.62326	D	0.03	-21.1255	10.763	0.46277	0.3182:0.0:0.6818:0.0	.	106;106	F8WCP5;Q13769	.;THOC5_HUMAN	Q	106;106;106;106;106;102;106	ENSP00000420306:H106Q;ENSP00000380970:H106Q;ENSP00000380969:H106Q;ENSP00000380971:H106Q;ENSP00000415425:H102Q	ENSP00000444493:H106Q	H	-	3	2	THOC5	28269454	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.339000	0.33885	0.050000	0.15949	0.557000	0.71058	CAC	THOC5	-	pfam_THO_Thoc5	ENSG00000100296		0.418	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	-	0.00	72	0	G	NM_003678		29939454	-1	tier1	-	no_errors	ENST00000397871	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
TINAGL1	64129	genome.wustl.edu	37	1	32052456	32052456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:32052456delG	ENST00000271064.7	+	12	1356	c.1280delG	c.(1279-1281)tggfs	p.W427fs	TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.W396fs|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	427					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GCCAACTCCTGGGGCCCAGCC	0.692																																																	0													15.0	18.0	17.0					1																	32052456		2182	4271	6453	SO:0001589	frameshift_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1280delG	1.37:g.32052456delG	ENSP00000271064:p.Trp427fs		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Frame_Shift_Del	DEL	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.G428fs	ENST00000271064.7	37	c.1280	CCDS343.1	1																																																																																			TINAGL1	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000142910		0.692	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1		0.00	61	0	G	NM_022164		32052456	+1	tier1		no_errors	ENST00000271064	ensembl	human	known	74_37	frame_shift_del	13.51	64	10	DEL	1.000	-
TLR7	51284	genome.wustl.edu	37	X	12905425	12905425	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:12905425A>T	ENST00000380659.3	+	3	1937	c.1798A>T	c.(1798-1800)Aaa>Taa	p.K600*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	600					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGTTCTGCAGAAACTGATGAT	0.393																																																	0													84.0	86.0	85.0					X																	12905425		2203	4300	6503	SO:0001587	stop_gained	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1798A>T	X.37:g.12905425A>T	ENSP00000370034:p.Lys600*		D1CS69|Q9NR98	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.K600*	ENST00000380659.3	37	c.1798	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	A	37	6.360429	0.97502	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.83	5.83	0.93111	.	0.229082	0.38058	N	0.001834	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	15.1787	0.72938	1.0:0.0:0.0:0.0	.	.	.	.	X	600	.	ENSP00000370034:K600X	K	+	1	0	TLR7	12815346	1.000000	0.71417	0.976000	0.42696	0.715000	0.41141	5.246000	0.65411	1.968000	0.57251	0.481000	0.45027	AAA	TLR7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000196664		0.393	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	-	0.00	67	0	A	NM_016562		12905425	+1	tier1	-	no_errors	ENST00000380659	ensembl	human	known	74_37	nonsense	41.82	32	23	SNP	0.981	T
TMC4	147798	genome.wustl.edu	37	19	54664700	54664700	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:54664700T>C	ENST00000376591.4	-	13	2037	c.1906A>G	c.(1906-1908)Att>Gtt	p.I636V	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.I218V|TMC4_ENST00000301187.4_Missense_Mutation_p.I630V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	636					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGCTGGAAATAGACTCAGGG	0.577																																																	0													53.0	61.0	58.0					19																	54664700		2203	4300	6503	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1906A>G	19.37:g.54664700T>C	ENSP00000365776:p.Ile636Val		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.I630V	ENST00000376591.4	37	c.1888	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641222	0.29157	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.72282	-0.63;-0.64;-0.63	4.86	4.86	0.63082	.	0.210963	0.49305	D	0.000153	T	0.60547	0.2277	L	0.37750	1.13	0.31830	N	0.624875	P;B;P	0.36027	0.533;0.072;0.51	B;B;B	0.38683	0.094;0.111;0.279	T	0.62001	-0.6946	10	0.11182	T	0.66	-12.9508	13.792	0.63148	0.0:0.0:0.0:1.0	.	636;630;218	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	630;218;636	ENSP00000301187:I630V;ENSP00000405023:I218V;ENSP00000365776:I636V	ENSP00000301187:I630V	I	-	1	0	TMC4	59356512	0.995000	0.38212	0.033000	0.17914	0.980000	0.70556	2.991000	0.49409	1.984000	0.57885	0.529000	0.55759	ATT	TMC4	-	NULL	ENSG00000167608		0.577	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0.00	34	0	T			54664700	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.979	C
TMEM189-UBE2V1	387522	genome.wustl.edu	37	20	48746215	48746215	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:48746215G>T	ENST00000341698.2	-	4	345	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	TMEM189_ENST00000371652.4_Missense_Mutation_p.P116T|TMEM189_ENST00000557021.1_Missense_Mutation_p.P116T|TMEM189_ENST00000371650.5_Missense_Mutation_p.P113T|TMEM189_ENST00000371656.2_Missense_Mutation_p.P41T	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TCCCGGAAGGGTCGGATGAAA	0.597																																																	0													182.0	152.0	162.0					20																	48746215		2203	4300	6503	SO:0001583	missense	0			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.346C>A	20.37:g.48746215G>T	ENSP00000344166:p.Pro116Thr			Missense_Mutation	SNP	pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P116T	ENST00000341698.2	37	c.346	CCDS13424.1	20	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876814	0.72180	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.54279	0.58;0.58;0.87;0.86	5.36	4.4	0.53042	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.76062	0.3935	M	0.88842	2.985	0.34204	D	0.673471	P;D;D;P	0.63046	0.883;0.992;0.992;0.59	P;D;D;B	0.68621	0.737;0.959;0.959;0.346	D	0.86597	0.1864	9	0.66056	D	0.02	-4.9249	15.9707	0.80013	0.0:0.1354:0.8646:0.0	.	41;113;116;116	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	T	116;116;113;41;116	ENSP00000344166:P116T;ENSP00000450635:P116T;ENSP00000360713:P113T;ENSP00000360715:P116T	ENSP00000360713:P113T	P	-	1	0	TMEM189-UBE2V1;TMEM189	48179622	1.000000	0.71417	0.167000	0.22817	0.853000	0.48598	9.372000	0.97165	1.222000	0.43521	0.491000	0.48974	CCC	TMEM189-UBE2V1	-	pfam_KuaUb-conj-enz_UEV1	ENSG00000124208		0.597	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TMEM189-UBE2V1	HGNC	protein_coding	OTTHUMT00000080532.5	-	0.00	66	0	G			48746215	-1	tier1	-	no_errors	ENST00000341698	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.994	T
TMEM206	55248	genome.wustl.edu	37	1	212558750	212558750	+	Missense_Mutation	SNP	C	C	T	rs369443875		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:212558750C>T	ENST00000261455.4	-	4	498	c.361G>A	c.(361-363)Ggt>Agt	p.G121S	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.G182S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	121						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G121C(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGGGCCTGACCGGGGTACAAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)						C	SER/GLY,SER/GLY	0,4406		0,0,2203	89.0	83.0	85.0		544,361	5.4	0.7	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM206	NM_001198862.1,NM_018252.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	182/412,121/351	212558750	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.361G>A	1.37:g.212558750C>T	ENSP00000261455:p.Gly121Ser		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	NULL	p.G182S	ENST00000261455.4	37	c.544	CCDS1504.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.205822	0.95033	0.0	1.16E-4	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75531	-0.3285	9	0.87932	D	0	-25.2915	19.2273	0.93822	0.0:1.0:0.0:0.0	.	182;121	B7Z4D6;Q9H813	.;TM206_HUMAN	S	121;182	.	ENSP00000261455:G121S	G	-	1	0	TMEM206	210625373	1.000000	0.71417	0.667000	0.29798	0.761000	0.43186	6.922000	0.75811	2.531000	0.85337	0.655000	0.94253	GGT	TMEM206	-	NULL	ENSG00000065600		0.532	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM206	HGNC	protein_coding	OTTHUMT00000089306.1	-	0.00	69	0	C	NM_018252		212558750	-1	tier1	-	no_errors	ENST00000535273	ensembl	human	known	74_37	missense	18.60	70	16	SNP	0.998	T
TMEM26	219623	genome.wustl.edu	37	10	63188874	63188874	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:63188874C>T	ENST00000399298.3	-	4	783	c.415G>A	c.(415-417)Gta>Ata	p.V139I	TMEM26_ENST00000399293.1_Missense_Mutation_p.V139I	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	139						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TTCTCACATACTGTAGATAAG	0.408																																																	0													84.0	80.0	81.0					10																	63188874		1871	4087	5958	SO:0001583	missense	0			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.415G>A	10.37:g.63188874C>T	ENSP00000382237:p.Val139Ile		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.V139I	ENST00000399298.3	37	c.415	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119522	0.20877	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.73	3.8	0.43715	.	0.377447	0.29508	N	0.011959	T	0.25382	0.0617	N	0.04260	-0.245	0.40193	D	0.977424	B	0.19200	0.034	B	0.19666	0.026	T	0.07290	-1.0780	9	0.18710	T	0.47	-37.8374	6.4152	0.21712	0.0:0.6425:0.1375:0.22	.	139	Q6ZUK4	TMM26_HUMAN	I	139;49;139	.	ENSP00000277749:V49I	V	-	1	0	TMEM26	62858880	0.971000	0.33674	0.912000	0.35992	0.830000	0.47004	1.849000	0.39318	1.422000	0.47177	0.591000	0.81541	GTA	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.408	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	-	0.00	49	0	C	NM_178505		63188874	-1	tier1	-	no_errors	ENST00000399298	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.824	T
TMEM8A	58986	genome.wustl.edu	37	16	422216	422216	+	Missense_Mutation	SNP	A	A	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:422216A>T	ENST00000431232.2	-	13	2247	c.2087T>A	c.(2086-2088)cTg>cAg	p.L696Q	MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.L503Q|MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	696					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACGCCGGGCAGGAGGTAGAA	0.612																																																	0													47.0	48.0	48.0					16																	422216		2196	4298	6494	SO:0001583	missense	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2087T>A	16.37:g.422216A>T	ENSP00000401338:p.Leu696Gln		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.L696Q	ENST00000431232.2	37	c.2087	CCDS10407.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.565293|4.565293	0.86439|0.86439	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942	.|T;T	.|0.49720	.|0.77;0.77	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.143851	.|0.31312	.|N	.|0.007874	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.71800|0.71800	-0.4483|-0.4483	5|10	.|0.48119	.|T	.|0.1	-13.2457|-13.2457	13.4001|13.4001	0.60879|0.60879	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|696	.|Q9HCN3	.|TMM8A_HUMAN	S|Q	164|696;503;184	.|ENSP00000401338:L696Q;ENSP00000250930:L503Q	.|ENSP00000250930:L503Q	C|L	-|-	1|2	0|0	TMEM8A|TMEM8A	362217|362217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	7.161000|7.161000	0.77505|0.77505	1.763000|1.763000	0.52060|0.52060	0.374000|0.374000	0.22700|0.22700	TGC|CTG	TMEM8A	-	pfam_DUF3522	ENSG00000129925		0.612	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	-	0.00	20	0	A	NM_021259		422216	-1	tier1	-	no_errors	ENST00000431232	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T
TMPRSS9	360200	genome.wustl.edu	37	19	2399192	2399192	+	Splice_Site	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:2399192G>A	ENST00000332578.3	+	3	412		c.e3+1			NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9						plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTCACAGGTGAGTGGGCA	0.582																																																	0													32.0	29.0	30.0					19																	2399192		2203	4299	6502	SO:0001630	splice_region_variant	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.412+1G>A	19.37:g.2399192G>A			Q6ZND6|Q7Z411	Splice_Site	SNP	-	e3+1	ENST00000332578.3	37	c.412+1	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	9.887	1.203146	0.22121	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0845	0.64947	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS9	2350192	1.000000	0.71417	0.959000	0.39883	0.018000	0.09664	5.353000	0.66034	2.187000	0.69744	0.456000	0.33151	.	TMPRSS9	-	-	ENSG00000178297		0.582	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0.00	85	0	G	NM_182973	Intron	2399192	+1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	splice_site	6.67	54	4	SNP	1.000	A
TNFAIP6	7130	genome.wustl.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0													20.0	21.0	21.0					2																	152236046		2160	4277	6437	SO:0001567	stop_retained_variant	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA			Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link	p.*278fs	ENST00000243347.3	37	c.833	CCDS2193.1	2																																																																																			TNFAIP6	-	NULL	ENSG00000123610		0.289	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2		0.00	17	0	A	NM_007115		152236046	+1	tier1		no_errors	ENST00000243347	ensembl	human	known	74_37	frame_shift_del	13.33	26	4	DEL	0.961	-
TNRC6B	23112	genome.wustl.edu	37	22	40718961	40718961	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:40718961A>G	ENST00000454349.2	+	23	5429	c.5218A>G	c.(5218-5220)Agt>Ggt	p.S1740G	TNRC6B_ENST00000402203.1_Missense_Mutation_p.S936G|TNRC6B_ENST00000335727.9_Missense_Mutation_p.S1630G|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S936G	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1740					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AGCAACCCCAAGTGCGCCAGC	0.592																																																	0													19.0	22.0	21.0					22																	40718961		1978	4164	6142	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5218A>G	22.37:g.40718961A>G	ENSP00000401946:p.Ser1740Gly		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.S1740G	ENST00000454349.2	37	c.5218	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	A	6.811	0.518638	0.13005	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.31769	1.48;1.48;2.69;2.7	5.79	5.79	0.91817	.	0.238434	0.43919	D	0.000516	T	0.18087	0.0434	N	0.03608	-0.345	0.35661	D	0.812524	B;B;B	0.34015	0.435;0.135;0.341	B;B;B	0.38500	0.152;0.111;0.275	T	0.36407	-0.9749	10	0.25751	T	0.34	-10.8684	14.6903	0.69080	1.0:0.0:0.0:0.0	.	1740;1630;936	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	G	936;936;1740;1630;1630	ENSP00000306759:S936G;ENSP00000384795:S936G;ENSP00000401946:S1740G;ENSP00000338371:S1630G	ENSP00000306759:S936G	S	+	1	0	TNRC6B	39048907	0.998000	0.40836	0.107000	0.21349	0.469000	0.32828	4.749000	0.62155	2.201000	0.70794	0.533000	0.62120	AGT	TNRC6B	-	NULL	ENSG00000100354		0.592	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		-	0.00	50	0	A			40718961	+1	tier1	-	no_errors	ENST00000454349	ensembl	human	known	74_37	missense	52.08	23	25	SNP	0.501	G
TONSL	4796	genome.wustl.edu	37	8	145668590	145668590	+	Silent	SNP	T	T	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:145668590T>G	ENST00000409379.3	-	4	408	c.379A>C	c.(379-381)Agg>Cgg	p.R127R		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	127					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AAAGCATCCCTCGACTGGCAG	0.627																																																	0													77.0	79.0	79.0					8																	145668590		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.379A>C	8.37:g.145668590T>G			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R127	ENST00000409379.3	37	c.379	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.627	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2		0.00	65	0	T	NM_013432		145668590	-1			no_errors	ENST00000409379	ensembl	human	known	74_37	silent	8.06	57	5	SNP	0.000	G
TOP3B	8940	genome.wustl.edu	37	22	22328814	22328814	+	Silent	SNP	G	G	A	rs146303944		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:22328814G>A	ENST00000398793.2	-	3	551	c.117C>T	c.(115-117)caC>caT	p.H39H	TOP3B_ENST00000357179.5_Silent_p.H39H|TOP3B_ENST00000413067.2_De_novo_Start_InFrame	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	39	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CAGTGTACTCGTGGACTGAGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		21094	0.0		0.001	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	102.0	72.0	83.0		117	-5.3	0.6	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TOP3B	NM_003935.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		39/863	22328814	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.117C>T	22.37:g.22328814G>A			A0M8Q3|Q9BUP5	Silent	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.H39	ENST00000398793.2	37	c.117	CCDS13797.1	22																																																																																			TOP3B	-	pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain	ENSG00000100038		0.582	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1		0.00	90	0	G	NM_003935		22328814	-1			no_errors	ENST00000357179	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.331	A
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		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	Nonsense_Mutation	SNP	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.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	80	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	39.24	48	31	SNP	0.893	A
TRIM15	89870	genome.wustl.edu	37	6	30136085	30136085	+	Silent	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:30136085C>A	ENST00000376694.4	+	3	955	c.486C>A	c.(484-486)atC>atA	p.I162I	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	162					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGACTCAGATCGAAAGCAAGA	0.498																																																	0													47.0	46.0	46.0					6																	30136085		1510	2709	4219	SO:0001819	synonymous_variant	0			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.486C>A	6.37:g.30136085C>A			A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I162	ENST00000376694.4	37	c.486	CCDS4677.1	6																																																																																			TRIM15	-	NULL	ENSG00000204610		0.498	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM15	HGNC	protein_coding	OTTHUMT00000076026.2	-	0.00	35	0	C	NM_033229		30136085	+1	tier1	-	no_errors	ENST00000376694	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.000	A
TRIOBP	11078	genome.wustl.edu	37	22	38134718	38134718	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:38134718G>A	ENST00000406386.3	+	10	5431	c.5176G>A	c.(5176-5178)Gca>Aca	p.A1726T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1726					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAGAAGCAGGCAGACTCGGT	0.547																																																	0													46.0	46.0	46.0					22																	38134718		2007	4179	6186	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5176G>A	22.37:g.38134718G>A	ENSP00000384312:p.Ala1726Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1726T	ENST00000406386.3	37	c.5176	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422565	0.43020	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24723	1.84	3.72	1.65	0.23941	.	.	.	.	.	T	0.11495	0.0280	N	0.14661	0.345	0.80722	D	1	B	0.27882	0.192	B	0.21151	0.033	T	0.14952	-1.0454	9	0.22706	T	0.39	.	6.0125	0.19584	0.2354:0.0:0.7646:0.0	.	1726	Q9H2D6	TARA_HUMAN	T	1726;1687	ENSP00000384312:A1726T	ENSP00000384312:A1726T	A	+	1	0	TRIOBP	36464664	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.301000	0.43628	0.560000	0.29169	0.462000	0.41574	GCA	TRIOBP	-	NULL	ENSG00000100106		0.547	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0.00	56	0	G			38134718	+1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
TRRAP	8295	genome.wustl.edu	37	7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	816					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)	p.R816W(2)		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)			CGTCCCTGTGCGGCTGAGCTC	0.577																																																	2	Substitution - Missense(2)	pancreas(2)											152.0	126.0	135.0					7																	98515126		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.2446C>T	7.37:g.98515126C>T	ENSP00000352925:p.Arg816Trp		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.R816W	ENST00000359863.4	37	c.2446	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160699	0.57368	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.07216	3.21;3.21	5.56	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.93808	3.46	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	T	0.54423	-0.8296	10	0.87932	D	0	.	14.7884	0.69821	0.2633:0.7367:0.0:0.0	.	816;530;816	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	816;816;814	ENSP00000352925:R816W;ENSP00000347733:R816W	ENSP00000347733:R816W	R	+	1	2	TRRAP	98353062	0.980000	0.34600	0.975000	0.42487	0.089000	0.18198	2.056000	0.41355	0.683000	0.31428	0.456000	0.33151	CGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1		0.00	46	0	C	NM_003496		98515126	+1			no_errors	ENST00000359863	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
TUFT1	7286	genome.wustl.edu	37	1	151547394	151547394	+	Missense_Mutation	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:151547394A>G	ENST00000368849.3	+	9	793	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	TUFT1_ENST00000392712.3_Missense_Mutation_p.Q189R|TUFT1_ENST00000353024.3_Missense_Mutation_p.Q185R|TUFT1_ENST00000538902.1_Missense_Mutation_p.Q263R|TUFT1_ENST00000368848.2_Missense_Mutation_p.Q219R	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	244				Q -> R (in Ref. 3; BAB15615). {ECO:0000305}.	bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGAGCATCAGGCCTTACTG	0.552																																																	0													38.0	30.0	32.0					1																	151547394		2193	4292	6485	SO:0001583	missense	0			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.731A>G	1.37:g.151547394A>G	ENSP00000357842:p.Gln244Arg		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.Q263R	ENST00000368849.3	37	c.788	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844301	0.51164	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	4.51	4.51	0.55191	.	0.385794	0.28809	N	0.014079	T	0.55369	0.1916	L	0.47190	1.495	0.31613	N	0.651288	P;B;P	0.39181	0.597;0.176;0.663	B;B;B	0.37943	0.166;0.174;0.261	T	0.53365	-0.8449	10	0.19590	T	0.45	-20.5276	12.0971	0.53761	1.0:0.0:0.0:0.0	.	263;219;244	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	R	244;189;185;219;263	ENSP00000357842:Q244R;ENSP00000376476:Q189R;ENSP00000343781:Q185R;ENSP00000357841:Q219R;ENSP00000437997:Q263R	ENSP00000343781:Q185R	Q	+	2	0	TUFT1	149814018	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.841000	0.62824	2.031000	0.59945	0.459000	0.35465	CAG	TUFT1	-	superfamily_Prefoldin	ENSG00000143367		0.552	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1		0.00	36	0	A	NM_020127		151547394	+1			no_errors	ENST00000538902	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	G
UBAP2L	9898	genome.wustl.edu	37	1	154199782	154199782	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:154199782G>A	ENST00000361546.2	+	2	157	c.115G>A	c.(115-117)Gca>Aca	p.A39T	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A39T|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A39T|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A39T			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	39					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATTAGACTTGCACAGATGAT	0.398																																																	0													173.0	161.0	165.0					1																	154199782		2203	4300	6503	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.115G>A	1.37:g.154199782G>A	ENSP00000355343:p.Ala39Thr		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A39T	ENST00000361546.2	37	c.115	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.326988	0.95708	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.75	4.75	0.60458	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.996;0.993	D;D;D;D	0.83275	0.996;0.99;0.99;0.977	T	0.57347	-0.7827	10	0.87932	D	0	-6.9567	16.962	0.86274	0.0:0.0:1.0:0.0	.	39;39;39;39	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	T	39	ENSP00000345308:A39T;ENSP00000389445:A39T;ENSP00000399920:A39T;ENSP00000271877:A39T;ENSP00000389052:A39T;ENSP00000357490:A39T;ENSP00000389717:A39T;ENSP00000415310:A39T;ENSP00000355343:A39T	ENSP00000271877:A39T	A	+	1	0	UBAP2L	152466406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.186000	0.94906	2.453000	0.82957	0.650000	0.86243	GCA	UBAP2L	-	superfamily_UBA-like	ENSG00000143569		0.398	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	-	0.00	64	0	G	NM_014847		154199782	+1	tier1	-	no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A
UBE3C	9690	genome.wustl.edu	37	7	156979534	156979534	+	Missense_Mutation	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:156979534G>A	ENST00000348165.5	+	10	1510	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	UBE3C_ENST00000389103.4_Missense_Mutation_p.G341S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	384					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTAGGAGGATGGCAGACTGTC	0.468																																																	0													127.0	100.0	109.0					7																	156979534		2203	4300	6503	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1150G>A	7.37:g.156979534G>A	ENSP00000309198:p.Gly384Ser		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G384S	ENST00000348165.5	37	c.1150	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931081	0.34096	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.40476	1.03	5.44	5.44	0.79542	.	0.044496	0.85682	D	0.000000	T	0.24890	0.0604	N	0.11064	0.09	0.58432	D	0.999998	B;B;B	0.20671	0.001;0.047;0.047	B;B;B	0.19391	0.002;0.014;0.025	T	0.14254	-1.0479	10	0.05351	T	0.99	.	19.2596	0.93962	0.0:0.0:1.0:0.0	.	384;384;341	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	S	384;341	ENSP00000309198:G384S	ENSP00000309198:G384S	G	+	1	0	UBE3C	156672295	1.000000	0.71417	0.966000	0.40874	0.460000	0.32559	4.658000	0.61497	2.551000	0.86045	0.655000	0.94253	GGC	UBE3C	-	NULL	ENSG00000009335		0.468	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	-	0.00	83	0	G	NM_014671		156979534	+1	tier1	-	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	A
UBQLNL	143630	genome.wustl.edu	37	11	5537115	5537115	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:5537115G>T	ENST00000380184.1	-	1	820	c.557C>A	c.(556-558)tCc>tAc	p.S186Y	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	186										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTCCATGTTGGACAGAAGCCG	0.483																																																	0													110.0	110.0	110.0					11																	5537115		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.557C>A	11.37:g.5537115G>T	ENSP00000369531:p.Ser186Tyr		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.S186Y	ENST00000380184.1	37	c.557	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937712	0.52972	.	.	ENSG00000175518	ENST00000380184	T	0.57273	0.41	4.87	2.97	0.34412	.	0.453258	0.18864	N	0.129022	T	0.66809	0.2827	M	0.82517	2.595	0.31272	N	0.691682	D	0.71674	0.998	P	0.60789	0.879	T	0.69209	-0.5205	10	0.87932	D	0	.	6.5176	0.22256	0.098:0.1826:0.7194:0.0	.	186	Q8IYU4	UBQLN_HUMAN	Y	186	ENSP00000369531:S186Y	ENSP00000369531:S186Y	S	-	2	0	UBQLNL	5493691	1.000000	0.71417	0.189000	0.23252	0.847000	0.48162	2.324000	0.43831	0.614000	0.30107	0.655000	0.94253	TCC	UBQLNL	-	NULL	ENSG00000175518		0.483	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1		0.00	10	0	G	NM_145053		5537115	-1			no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	30.77	9	4	SNP	1.000	T
UFL1	23376	genome.wustl.edu	37	6	96986512	96986512	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:96986512G>A	ENST00000369278.4	+	10	1050	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	328					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TCTAGCCTCTGCTACCCACTT	0.373																																																	0													60.0	58.0	59.0					6																	96986512		2202	4299	6501	SO:0001819	synonymous_variant	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.984G>A	6.37:g.96986512G>A			A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	pfam_E3_UFM1_ligase_1	p.L328	ENST00000369278.4	37	c.984	CCDS5034.1	6																																																																																			UFL1	-	NULL	ENSG00000014123		0.373	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	-	0.00	40	0	G	NM_015323		96986512	+1	tier1	-	no_errors	ENST00000369278	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.997	A
WDR91	29062	genome.wustl.edu	37	7	134882799	134882799	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:134882799G>T	ENST00000354475.4	-	7	1027	c.996C>A	c.(994-996)cgC>cgA	p.R332R	WDR91_ENST00000344400.5_Silent_p.R332R|WDR91_ENST00000423565.1_Silent_p.R297R|AC009542.2_ENST00000412549.2_RNA|AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	332										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGTCCTGCAGGCGCCGCTGCC	0.627																																																	0													79.0	75.0	77.0					7																	134882799		2203	4300	6503	SO:0001819	synonymous_variant	0			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.996C>A	7.37:g.134882799G>T			A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R332	ENST00000354475.4	37	c.996	CCDS34758.1	7																																																																																			WDR91	-	NULL	ENSG00000105875		0.627	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	-	0.00	51	0	G	NM_014149		134882799	-1	tier1	-	no_errors	ENST00000354475	ensembl	human	known	74_37	silent	24.39	31	10	SNP	1.000	T
XIRP1	165904	genome.wustl.edu	37	3	39228955	39228958	+	Frame_Shift_Del	DEL	TGTC	TGTC	-	rs374062592		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:39228955_39228958delTGTC	ENST00000340369.3	-	2	2207_2210	c.1979_1982delGACA	c.(1978-1983)agacacfs	p.RH660fs	XIRP1_ENST00000396251.1_Frame_Shift_Del_p.RH660fs|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	660					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCAAAGACGTGTCTGTCTGTCTG	0.618																																																	0																																										SO:0001589	frameshift_variant	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1979_1982delGACA	3.37:g.39228963_39228966delTGTC	ENSP00000343140:p.Arg660fs		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Del	DEL	pfam_Actin-binding_Xin_repeat	p.R660fs	ENST00000340369.3	37	c.1982_1979	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.618	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1		0.00	55	0	TGTC	XM_093522		39228958	-1	tier1		no_errors	ENST00000340369	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.972:0.971:0.398:0.360	-
XPNPEP2	7512	genome.wustl.edu	37	X	128881662	128881662	+	Silent	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:128881662G>T	ENST00000371106.3	+	7	762	c.570G>T	c.(568-570)ctG>ctT	p.L190L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	190						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TTGTGGACCTGGTATGGGGAT	0.517																																																	0													137.0	113.0	121.0					X																	128881662		2203	4299	6502	SO:0001819	synonymous_variant	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.570G>T	X.37:g.128881662G>T			A0AV16|O75994	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.L190	ENST00000371106.3	37	c.570	CCDS14613.1	X																																																																																			XPNPEP2	-	NULL	ENSG00000122121		0.517	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	-	0.00	62	0	G	NM_003399		128881662	+1	tier1	-	no_errors	ENST00000371106	ensembl	human	known	74_37	silent	12.28	50	7	SNP	0.791	T
YAE1D1	57002	genome.wustl.edu	37	7	39611882	39611882	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:39611882G>A	ENST00000223273.2	+	3	301	c.258G>A	c.(256-258)ttG>ttA	p.L86L	YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	86																	TCAGTGCTTTGCTCTCCTGGT	0.318																																																	0													55.0	54.0	54.0					7																	39611882		2203	4300	6503	SO:0001819	synonymous_variant	0			AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.258G>A	7.37:g.39611882G>A			A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	pfam_Essential_protein_Yae1_N	p.L86	ENST00000223273.2	37	c.258	CCDS5459.1	7																																																																																			YAE1D1	-	NULL	ENSG00000241127		0.318	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAE1D1	HGNC	protein_coding	OTTHUMT00000250586.1	-	0.00	66	0	G	NM_020192		39611882	+1	tier1	-	no_errors	ENST00000223273	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A
YLPM1	56252	genome.wustl.edu	37	14	75265987	75265987	+	Silent	SNP	A	A	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:75265987A>G	ENST00000325680.7	+	5	4111	c.3987A>G	c.(3985-3987)ccA>ccG	p.P1329P	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.P1134P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1134					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGGATATTCCATCTCTTCCAC	0.443																																																	0													133.0	133.0	133.0					14																	75265987		1908	4123	6031	SO:0001819	synonymous_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3987A>G	14.37:g.75265987A>G			P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_P-loop_NTPase	p.P1329	ENST00000325680.7	37	c.3987	CCDS45135.1	14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.443	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	-	0.00	41	0	A	NM_019589		75265987	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.723	G
ZCCHC14	23174	genome.wustl.edu	37	16	87453397	87453397	+	Missense_Mutation	SNP	T	T	C			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:87453397T>C	ENST00000268616.4	-	6	843	c.626A>G	c.(625-627)cAg>cGg	p.Q209R		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	209							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACTTGGACTCTGAAGCTGCTG	0.428																																																	0													72.0	69.0	70.0					16																	87453397		2198	4300	6498	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.626A>G	16.37:g.87453397T>C	ENSP00000268616:p.Gln209Arg		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q209R	ENST00000268616.4	37	c.626	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621859	0.28889	.	.	ENSG00000140948	ENST00000268616	T	0.68025	-0.3	5.53	1.93	0.25924	Phox homologous domain (2);	0.376195	0.25726	N	0.028705	T	0.40423	0.1116	N	0.08118	0	0.29865	N	0.827314	B	0.25441	0.126	B	0.16289	0.015	T	0.31613	-0.9937	10	0.45353	T	0.12	-4.0003	7.5656	0.27876	0.0:0.0695:0.2688:0.6617	.	209	Q8WYQ9	ZCH14_HUMAN	R	209	ENSP00000268616:Q209R	ENSP00000268616:Q209R	Q	-	2	0	ZCCHC14	86010898	1.000000	0.71417	0.993000	0.49108	0.734000	0.41952	2.380000	0.44327	0.340000	0.23745	0.533000	0.62120	CAG	ZCCHC14	-	superfamily_Phox	ENSG00000140948		0.428	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	-	0.00	84	0	T	NM_015144		87453397	-1	tier1	-	no_errors	ENST00000268616	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	C
ZNF135	7694	genome.wustl.edu	37	19	58578877	58578877	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:58578877C>A	ENST00000313434.5	+	5	1126	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	ZNF135_ENST00000506786.1_Missense_Mutation_p.T300N|ZNF135_ENST00000401053.4_Missense_Mutation_p.T366N|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Missense_Mutation_p.T354N|ZNF135_ENST00000439855.2_Missense_Mutation_p.T342N|ZNF135_ENST00000511556.1_Missense_Mutation_p.T354N	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	342					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATCCACCTCACCCAGCATCTG	0.562																																																	0													52.0	45.0	47.0					19																	58578877		2203	4300	6503	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1025C>A	19.37:g.58578877C>A	ENSP00000321406:p.Thr342Asn		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	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.T366N	ENST00000313434.5	37	c.1097		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.181|1.181	-0.638244|-0.638244	0.03557|0.03557	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.07327	.|3.2;3.2;3.2;3.2;3.2;3.2	3.19|3.19	2.02|2.02	0.26589|0.26589	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.07007|0.07007	0.0178|0.0178	N|N	0.11106|0.11106	0.095|0.095	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.46987	.|0.027;0.888;0.586	.|B;P;B	.|0.52672	.|0.056;0.706;0.303	T|T	0.33445|0.33445	-0.9868|-0.9868	5|9	.|0.37606	.|T	.|0.19	.|.	3.7174|3.7174	0.08444|0.08444	0.3402:0.527:0.0:0.1328|0.3402:0.527:0.0:0.1328	.|.	.|354;342;354	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	T|N	360|354;366;354;342;342;354;300	.|ENSP00000441410:T366N;ENSP00000369437:T354N;ENSP00000444828:T342N;ENSP00000321406:T342N;ENSP00000422074:T354N;ENSP00000427691:T300N	.|ENSP00000321406:T342N	P|T	+|+	1|2	0|0	ZNF135|ZNF135	63270689|63270689	0.000000|0.000000	0.05858|0.05858	0.995000|0.995000	0.50966|0.50966	0.027000|0.027000	0.11550|0.11550	-0.963000|-0.963000	0.03837|0.03837	1.794000|1.794000	0.52575|0.52575	0.563000|0.563000	0.77884|0.77884	CCC|ACC	ZNF135	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.562	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	-	0.00	67	0	C	NM_003436		58578877	+1	tier1	-	no_errors	ENST00000401053	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.020	A
ZNF23	7571	genome.wustl.edu	37	16	71481938	71481939	+	3'UTR	INS	-	-	A	rs186617347		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:71481938_71481939insA	ENST00000393539.2	-	0	2802_2803				ZNF23_ENST00000417828.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000564528.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23						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)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GGATGAATCTGATGATACTTGA	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.*58->T	16.37:g.71481939_71481939dupA			Q8NDP5|Q96IT3|Q9UG42	RNA	INS	-	NULL	ENST00000393539.2	37	NULL	CCDS10900.1	16																																																																																			ZNF23	-	-	ENSG00000167377		0.351	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23		0.00	35	0	-	NM_145911		71481939	-1	tier1		no_errors	ENST00000539742	ensembl	human	known	74_37	rna	16.67	10	2	INS	0.090:0.080	A
ZNF479	90827	genome.wustl.edu	37	7	57188226	57188226	+	Missense_Mutation	SNP	C	C	G			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:57188226C>G	ENST00000331162.4	-	5	1166	c.896G>C	c.(895-897)tGt>tCt	p.C299S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATTCTTCACATTTGTAGGG	0.473																																																	0													24.0	24.0	24.0					7																	57188226		2018	4167	6185	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.896G>C	7.37:g.57188226C>G	ENSP00000333776:p.Cys299Ser			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.C299S	ENST00000331162.4	37	c.896	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637392	0.47049	.	.	ENSG00000185177	ENST00000331162	D	0.85171	-1.95	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92967	0.7762	H	0.94964	3.605	0.30143	N	0.80379	D	0.67145	0.996	D	0.78314	0.991	D	0.86828	0.2009	9	0.87932	D	0	.	7.4806	0.27402	0.0:1.0:0.0:0.0	.	299	Q96JC4	ZN479_HUMAN	S	299	ENSP00000333776:C299S	ENSP00000333776:C299S	C	-	2	0	ZNF479	57192168	0.996000	0.38824	0.216000	0.23742	0.204000	0.24138	5.258000	0.65479	0.453000	0.26858	0.456000	0.33151	TGT	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185177		0.473	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	-	0.00	130	0	C	XM_291202		57188226	-1	tier1	-	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	5.79	114	7	SNP	0.746	G
ZNF70	7621	genome.wustl.edu	37	22	24086332	24086332	+	Silent	SNP	G	G	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:24086332G>A	ENST00000341976.3	-	2	1456	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGGCTTCTCGCCAGTGTGGG	0.567																																																	0													106.0	95.0	99.0					22																	24086332		2203	4300	6503	SO:0001819	synonymous_variant	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.996C>T	22.37:g.24086332G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G332	ENST00000341976.3	37	c.996	CCDS13812.1	22																																																																																			ZNF70	-	pfscan_Znf_C2H2	ENSG00000187792		0.567	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	-	0.00	56	0	G	NM_021916		24086332	-1	tier1	-	no_errors	ENST00000341976	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.976	A
ZNF772	400720	genome.wustl.edu	37	19	57986507	57986507	+	Silent	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:57986507T>A	ENST00000343280.4	-	4	467	c.207A>T	c.(205-207)acA>acT	p.T69T	AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000356584.3_Intron|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ACATGAAAGATGTATGTCCTA	0.448																																					Melanoma(5;289 436 14293 15924 30817)												0													156.0	137.0	143.0					19																	57986507		2203	4300	6503	SO:0001819	synonymous_variant	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.207A>T	19.37:g.57986507T>A			A6NJK9|B4DH56|B4DYS0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T69	ENST00000343280.4	37	c.207	CCDS33133.1	19																																																																																			ZNF772	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197128		0.448	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	-	0.00	47	0	T	NM_001024596		57986507	-1	tier1	-	no_errors	ENST00000343280	ensembl	human	known	74_37	silent	20.00	36	9	SNP	0.001	A
ZNF804B	219578	genome.wustl.edu	37	7	88962978	88962978	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:88962978C>A	ENST00000333190.4	+	4	1291	c.682C>A	c.(682-684)Cac>Aac	p.H228N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	228							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)			CAAAAAAGTGCACCTAAAATT	0.363										HNSCC(36;0.09)																																							0													66.0	65.0	66.0					7																	88962978		2203	4299	6502	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.682C>A	7.37:g.88962978C>A	ENSP00000329638:p.His228Asn		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.H228N	ENST00000333190.4	37	c.682	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269118	0.23221	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.04	4.15	0.48705	.	0.213737	0.33040	N	0.005353	T	0.04907	0.0132	L	0.29908	0.895	0.25517	N	0.987406	B	0.29627	0.252	B	0.26693	0.072	T	0.37820	-0.9689	10	0.27082	T	0.32	-10.6726	9.1175	0.36766	0.0:0.8336:0.0:0.1664	.	228	A4D1E1	Z804B_HUMAN	N	228	ENSP00000329638:H228N	ENSP00000329638:H228N	H	+	1	0	ZNF804B	88800914	0.997000	0.39634	0.986000	0.45419	0.993000	0.82548	4.067000	0.57527	1.333000	0.45449	0.655000	0.94253	CAC	ZNF804B	-	NULL	ENSG00000182348		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	35	0	C	NM_181646		88962978	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.974	A
ZNF836	162962	genome.wustl.edu	37	19	52659498	52659498	+	Missense_Mutation	SNP	T	T	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:52659498T>A	ENST00000322146.8	-	5	1959	c.1438A>T	c.(1438-1440)Agt>Tgt	p.S480C	ZNF836_ENST00000597252.1_Missense_Mutation_p.S480C|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	480					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(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGTCTGACTGAAGACCTTG	0.428																																																	0													112.0	116.0	115.0					19																	52659498		2203	4300	6503	SO:0001583	missense	0			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1438A>T	19.37:g.52659498T>A	ENSP00000325038:p.Ser480Cys			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.S480C	ENST00000322146.8	37	c.1438	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542373	0.27563	.	.	ENSG00000196267	ENST00000322146	T	0.08102	3.13	2.15	-3.18	0.05186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	L	0.53780	1.695	0.09310	N	1	D	0.71674	0.998	P	0.61201	0.885	T	0.10660	-1.0620	9	0.46703	T	0.11	.	1.071	0.01621	0.1586:0.3404:0.1754:0.3257	.	480	Q6ZNA1	ZN836_HUMAN	C	480	ENSP00000325038:S480C	ENSP00000325038:S480C	S	-	1	0	ZNF836	57351310	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.726000	0.04936	-0.771000	0.04608	-0.516000	0.04426	AGT	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196267		0.428	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	-	0.00	67	0	T	NM_001102657		52659498	-1	tier1	-	no_errors	ENST00000322146	ensembl	human	known	74_37	missense	24.69	61	20	SNP	0.000	A
ZP1	22917	genome.wustl.edu	37	11	60640738	60640738	+	Missense_Mutation	SNP	C	C	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:60640738C>T	ENST00000278853.5	+	7	1216	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	406	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGCCCCCTGCGGCTTGAGCT	0.602																																																	0													98.0	96.0	97.0					11																	60640738		2203	4299	6502	SO:0001583	missense	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1216C>T	11.37:g.60640738C>T	ENSP00000278853:p.Arg406Trp			Missense_Mutation	SNP	pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R406W	ENST00000278853.5	37	c.1216	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594734	0.28445	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.83591	-1.74	4.83	-2.5	0.06384	Zona pellucida sperm-binding protein (3);	0.183156	0.42964	D	0.000627	D	0.86322	0.5905	M	0.80616	2.505	0.29034	N	0.885503	D	0.76494	0.999	D	0.70716	0.97	T	0.78568	-0.2154	10	0.62326	D	0.03	-16.9006	2.7033	0.05155	0.4721:0.2733:0.1106:0.144	.	406	P60852	ZP1_HUMAN	W	406;113	ENSP00000278853:R406W	ENSP00000278853:R406W	R	+	1	2	ZP1	60397314	0.000000	0.05858	0.039000	0.18376	0.027000	0.11550	-0.581000	0.05820	-0.926000	0.03770	-0.373000	0.07131	CGG	ZP1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000149506		0.602	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1		0.00	44	0	C	NM_207341		60640738	+1			no_errors	ENST00000278853	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.076	T
ZSWIM8	23053	genome.wustl.edu	37	10	75548436	75548436	+	Missense_Mutation	SNP	G	G	T			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:75548436G>T	ENST00000605216.1	+	2	434	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.V73L|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.V73L|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.V73L|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.V73L	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	73							zinc ion binding (GO:0008270)										AGATGGACTGGTGATCCCATT	0.493																																																	0													77.0	73.0	74.0					10																	75548436		1976	4163	6139	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.217G>T	10.37:g.75548436G>T	ENSP00000474748:p.Val73Leu		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.V73L	ENST00000605216.1	37	c.217		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.197291|4.197291	0.79015|0.79015	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000446546	T|.	0.48836|.	0.8|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|.	.|.	.|.	.|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61697|.	0.99;0.99;0.99|.	D;D;D|.	0.73380|.	0.971;0.98;0.971|.	T|T	0.51616|0.51616	-0.8683|-0.8683	9|5	0.56958|.	D|.	0.05|.	.|.	20.1865|20.1865	0.98220|0.98220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	73;73;73|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	L|C	73|157	ENSP00000381693:V73L|.	ENSP00000381693:V73L|.	V|W	+|+	1|3	0|0	KIAA0913|KIAA0913	75218442|75218442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.625000|9.625000	0.98406|0.98406	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GTG|TGG	ZSWIM8	-	NULL	ENSG00000214655		0.493	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0.00	75	0	G	NM_001242487		75548436	+1			no_errors	ENST00000398706	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ZZEF1	23140	genome.wustl.edu	37	17	3978660	3978660	+	Missense_Mutation	SNP	C	C	A			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:3978660C>A	ENST00000381638.2	-	22	3422	c.3298G>T	c.(3298-3300)Gcc>Tcc	p.A1100S	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1100							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAGTTGTGGGCAGATTCCTTC	0.448											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	73.0	77.0					17																	3978660		2203	4300	6503	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3298G>T	17.37:g.3978660C>A	ENSP00000371051:p.Ala1100Ser	615	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.A1100S	ENST00000381638.2	37	c.3298	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911090	0.52439	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	5.9	2.68	0.31781	CUB (1);	0.158262	0.56097	D	0.000026	T	0.07728	0.0194	N	0.02751	-0.505	0.30237	N	0.795327	B	0.22276	0.067	B	0.24006	0.05	T	0.19095	-1.0316	10	0.25106	T	0.35	-7.5364	6.8567	0.24044	0.0:0.5188:0.3066:0.1746	.	1100	O43149	ZZEF1_HUMAN	S	1100	ENSP00000371051:A1100S	ENSP00000371051:A1100S	A	-	1	0	ZZEF1	3925409	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.727000	0.54984	0.827000	0.34685	-0.140000	0.14226	GCC	ZZEF1	-	NULL	ENSG00000074755		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0.00	98	0	C	NM_015113		3978660	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	22.86	54	16	SNP	1.000	A
