#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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCB5	340273	genome.wustl.edu	37	7	20766758	20766758	+	Missense_Mutation	SNP	A	A	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:20766758A>C	ENST00000404938.2	+	22	3373	c.2721A>C	c.(2719-2721)caA>caC	p.Q907H	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q462H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	907	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGACTCAACACAGGTGAT	0.358																																																	0													98.0	103.0	101.0					7																	20766758		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2721A>C	7.37:g.20766758A>C	ENSP00000384881:p.Gln907His		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q462H	ENST00000404938.2	37	c.1386	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684938	0.47991	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.80033	-1.33;-1.33	4.43	-1.25	0.09405	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.107759	0.39909	N	0.001237	T	0.79173	0.4401	L	0.32530	0.975	0.29928	N	0.822147	D;D;D	0.57571	0.979;0.959;0.98	P;P;D	0.63033	0.871;0.871;0.91	T	0.75331	-0.3355	10	0.59425	D	0.04	.	9.1603	0.37019	0.6267:0.0:0.3733:0.0	.	907;85;462	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	H	907;462	ENSP00000384881:Q907H;ENSP00000258738:Q462H	ENSP00000258738:Q462H	Q	+	3	2	ABCB5	20733283	0.414000	0.25408	0.960000	0.40013	0.734000	0.41952	-0.692000	0.05127	-0.225000	0.09913	-0.274000	0.10170	CAA	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.358	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	A	NM_178559		20766758	+1	no_errors	ENST00000258738	ensembl	human	known	70_37	missense	SNP	0.969	C
ACOT7	11332	genome.wustl.edu	37	1	6399596	6399596	+	Silent	SNP	G	G	A	rs11542480		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:6399596G>A	ENST00000377855.2	-	3	491	c.345C>T	c.(343-345)ccC>ccT	p.P115P	ACOT7_ENST00000377842.3_Silent_p.P64P|ACOT7_ENST00000361521.4_Silent_p.P105P|ACOT7_ENST00000377845.3_Silent_p.P85P|ACOT7_ENST00000541130.1_Silent_p.P85P|ACOT7_ENST00000545482.1_5'UTR|ACOT7_ENST00000608083.1_Silent_p.P73P	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	115	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CGATGCACATGGGAGACAGGA	0.622																																					GBM(74;673 1226 4974 11850 13190)												0													68.0	61.0	63.0					1																	6399596		2203	4300	6503	SO:0001819	synonymous_variant	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.345C>T	1.37:g.6399596G>A			A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	pfam_Thioestr_supf	p.P115	ENST00000377855.2	37	c.345	CCDS65.1	1																																																																																			ACOT7	-	pfam_Thioestr_supf		0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	G	NM_007274		6399596	-1	no_errors	ENST00000377855	ensembl	human	known	70_37	silent	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	131861929	131861929	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:131861929C>G	ENST00000286355.5	-	10	4423	c.2331G>C	c.(2329-2331)tgG>tgC	p.W777C	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	777					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)			TCTCATTAATCCAACAGCAAG	0.448										HNSCC(32;0.087)																																							0													129.0	119.0	122.0					8																	131861929		2203	4300	6503	SO:0001583	missense	114			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.2331G>C	8.37:g.131861929C>G	ENSP00000286355:p.Trp777Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W777C	ENST00000286355.5	37	c.2331	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783517	0.70222	.	.	ENSG00000155897	ENST00000286355	T	0.48201	0.82	5.31	5.31	0.75309	.	0.116742	0.64402	D	0.000006	T	0.61850	0.2380	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.59048	-0.7527	10	0.38643	T	0.18	.	17.9575	0.89074	0.0:1.0:0.0:0.0	.	777	P40145	ADCY8_HUMAN	C	777	ENSP00000286355:W777C	ENSP00000286355:W777C	W	-	3	0	ADCY8	131931111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.375000	0.79646	2.465000	0.83290	0.655000	0.94253	TGG	ADCY8	-	NULL		0.448	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131861929	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	G
AGFG1	3267	genome.wustl.edu	37	2	228401373	228401373	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:228401373C>G	ENST00000310078.8	+	9	1498	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	AGFG1_ENST00000409979.2_Missense_Mutation_p.S437C|AGFG1_ENST00000409315.1_Missense_Mutation_p.S392C|AGFG1_ENST00000373671.3_Missense_Mutation_p.S373C|AGFG1_ENST00000409171.1_Missense_Mutation_p.S413C	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	413					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GTGGTTGCTTCTGCACAGACA	0.363																																																	0													111.0	109.0	110.0					2																	228401373		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1238C>G	2.37:g.228401373C>G	ENSP00000312059:p.Ser413Cys		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S437C	ENST00000310078.8	37	c.1310	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525254	0.44969	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.26810	1.76;1.75;1.74;1.71;1.76	5.57	5.57	0.84162	.	0.105276	0.64402	D	0.000004	T	0.16428	0.0395	N	0.08118	0	0.30438	N	0.776492	B;B;B;B	0.33448	0.164;0.115;0.412;0.102	B;B;B;B	0.36186	0.163;0.117;0.219;0.078	T	0.12630	-1.0540	10	0.62326	D	0.03	-10.1097	13.5449	0.61697	0.1553:0.8447:0.0:0.0	.	373;413;437;413	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	C	437;422;413;392;373;413	ENSP00000387282:S437C;ENSP00000312059:S413C;ENSP00000387154:S392C;ENSP00000362775:S373C;ENSP00000387218:S413C	ENSP00000312059:S413C	S	+	2	0	AGFG1	228109617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.623000	0.88846	0.591000	0.81541	TCT	AGFG1	-	NULL		0.363	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	HGNC	protein_coding	OTTHUMT00000256895.2	C	NM_004504		228401373	+1	no_errors	ENST00000409979	ensembl	human	known	70_37	missense	SNP	1.000	G
AK7	122481	genome.wustl.edu	37	14	96944861	96944861	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:96944861C>A	ENST00000267584.4	+	15	1659	c.1615C>A	c.(1615-1617)Cct>Act	p.P539T		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	539	Adenylate kinase.|LID. {ECO:0000250}.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GATAAACCTTCCTGAGAGCAT	0.527																																																	0													133.0	121.0	125.0					14																	96944861		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1615C>A	14.37:g.96944861C>A	ENSP00000267584:p.Pro539Thr		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.P539T	ENST00000267584.4	37	c.1615	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	C	16.94	3.262074	0.59431	.	.	ENSG00000140057	ENST00000267584	D	0.93712	-3.27	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96952	0.9695	10	0.66056	D	0.02	-19.9363	18.3825	0.90455	0.0:1.0:0.0:0.0	.	539	Q96M32	KAD7_HUMAN	T	539	ENSP00000267584:P539T	ENSP00000267584:P539T	P	+	1	0	AK7	96014614	1.000000	0.71417	0.303000	0.25071	0.101000	0.19017	5.783000	0.68982	2.340000	0.79590	0.491000	0.48974	CCT	AK7	-	NULL		0.527	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	C			96944861	+1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	0.999	A
AHNAK2	113146	genome.wustl.edu	37	14	105420437	105420437	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:105420437C>T	ENST00000333244.5	-	7	1470	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	451						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)			CCCTCGCCTTCACCCTCCCGG	0.612																																																	0													46.0	51.0	49.0					14																	105420437		2023	4174	6197	SO:0001583	missense	113146			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.1351G>A	14.37:g.105420437C>T	ENSP00000353114:p.Glu451Lys		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E451K	ENST00000333244.5	37	c.1351	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	12.48	1.950428	0.34377	.	.	ENSG00000185567	ENST00000333244	T	0.02737	4.18	4.65	-5.95	0.02241	.	.	.	.	.	T	0.01254	0.0041	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.48681	-0.9014	9	0.10902	T	0.67	.	1.5834	0.02639	0.1821:0.336:0.1134:0.3685	.	451	Q8IVF2	AHNK2_HUMAN	K	451	ENSP00000353114:E451K	ENSP00000353114:E451K	E	-	1	0	AHNAK2	104491482	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.649000	0.05384	-1.292000	0.02366	0.555000	0.69702	GAA	AHNAK2	-	NULL		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105420437	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	T
ALDH1A1	216	genome.wustl.edu	37	9	75545857	75545857	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:75545857C>T	ENST00000297785.3	-	3	304	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.E84K|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	84					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CGCCCCCTCTCGGAAGCATCC	0.493																																																	0													92.0	92.0	92.0					9																	75545857		2203	4300	6503	SO:0001583	missense	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.250G>A	9.37:g.75545857C>T	ENSP00000297785:p.Glu84Lys		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.E84K	ENST00000297785.3	37	c.250	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282525	0.59867	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.46	4.56	0.56223	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.78553	0.4301	L	0.52206	1.635	0.50467	D	0.999871	P	0.51791	0.948	P	0.50352	0.638	T	0.77892	-0.2418	10	0.39692	T	0.17	.	14.2143	0.65783	0.0:0.9284:0.0:0.0716	.	84	P00352	AL1A1_HUMAN	K	84;84;98;84;84	ENSP00000297785:E84K;ENSP00000366138:E84K;ENSP00000388026:E84K;ENSP00000401361:E84K	ENSP00000297785:E84K	E	-	1	0	ALDH1A1	74735677	1.000000	0.71417	0.811000	0.32455	0.786000	0.44442	5.719000	0.68462	1.309000	0.44985	0.650000	0.86243	GAG	ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.493	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	C			75545857	-1	no_errors	ENST00000297785	ensembl	human	known	70_37	missense	SNP	0.991	T
ALDH9A1	223	genome.wustl.edu	37	1	165651451	165651451	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:165651451G>A	ENST00000354775.4	-	4	789	c.485C>T	c.(484-486)tCg>tTg	p.S162L	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.S68L|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	138					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATAACCAAACGATCCACCTGG	0.498																																					Ovarian(179;1583 2014 18106 33801 42447)												0													94.0	89.0	91.0					1																	165651451		2203	4300	6503	SO:0001583	missense	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.485C>T	1.37:g.165651451G>A	ENSP00000346827:p.Ser162Leu		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S162L	ENST00000354775.4	37	c.485	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363275	0.82353	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	T;T	0.76448	-1.02;-1.02	5.75	5.75	0.90469	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.236766	0.44285	D	0.000470	T	0.77942	0.4206	L	0.33293	1	0.44485	D	0.997420	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.988;0.988;0.996;0.988	T	0.74006	-0.3803	9	0.24483	T	0.36	.	17.46	0.87618	0.0:0.0:1.0:0.0	.	68;152;138;162	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	L	162;68	ENSP00000346827:S162L;ENSP00000440026:S68L	ENSP00000346827:S162L	S	-	2	0	ALDH9A1	163918075	1.000000	0.71417	0.993000	0.49108	0.312000	0.27988	7.735000	0.84939	2.701000	0.92244	0.650000	0.86243	TCG	ALDH9A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.498	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	G			165651451	-1	no_errors	ENST00000354775	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKAR	150709	genome.wustl.edu	37	2	190592600	190592600	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:190592600C>G	ENST00000520309.1	+	13	2742	c.2654C>G	c.(2653-2655)tCt>tGt	p.S885C	ANKAR_ENST00000281412.6_Missense_Mutation_p.S660C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S885C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S814C|ANKAR_ENST00000313581.4_Missense_Mutation_p.S885C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	885						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGCTGTATCTTCTGCTGCA	0.383																																																	0													86.0	88.0	87.0					2																	190592600		2203	4300	6503	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2654C>G	2.37:g.190592600C>G	ENSP00000427882:p.Ser885Cys		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.S885C	ENST00000520309.1	37	c.2654	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298348	0.60195	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.43	5.43	0.79202	.	0.414762	0.21853	N	0.068160	T	0.46678	0.1405	L	0.50333	1.59	0.36835	D	0.887105	.	.	.	.	.	.	T	0.50915	-0.8771	8	0.87932	D	0	-9.3813	18.1694	0.89740	0.0:1.0:0.0:0.0	.	.	.	.	C	885;885;885;814;660	ENSP00000427882:S885C;ENSP00000313513:S885C;ENSP00000397243:S885C;ENSP00000393043:S814C;ENSP00000281412:S660C	ENSP00000281412:S660C	S	+	2	0	ANKAR	190300845	0.996000	0.38824	0.354000	0.25760	0.790000	0.44656	5.192000	0.65115	2.823000	0.97156	0.563000	0.77884	TCT	ANKAR	-	superfamily_ARM-type_fold,smart_Armadillo		0.383	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	C	NM_144708		190592600	+1	no_errors	ENST00000313581	ensembl	human	known	70_37	missense	SNP	0.909	G
ANKDD1A	348094	genome.wustl.edu	37	15	65204164	65204164	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:65204164G>A	ENST00000380230.3	+	1	63		c.e1+1		ANKDD1A_ENST00000395720.1_Splice_Site|ANKDD1A_ENST00000491145.1_Splice_Site|ANKDD1A_ENST00000357698.3_Splice_Site|ANKDD1A_ENST00000496660.1_Splice_Site|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_Splice_Site	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A						signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACCGACGGCCGTGAGTCTGCC	0.776																																																	0													3.0	5.0	4.0					15																	65204164		1260	2632	3892	SO:0001630	splice_region_variant	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.34+1G>A	15.37:g.65204164G>A			Q495B2|Q495B3|Q8N7A0|Q8NBS5	Splice_Site	SNP	-	e1+1	ENST00000380230.3	37	c.34+1	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116099	0.20795	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319580	.	.	.	3.7	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.24512	N	0.994204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2745	0.10802	0.122:0.0:0.6525:0.2255	.	.	.	.	.	-1	.	.	.	+	.	.	ANKDD1A	62991217	0.997000	0.39634	0.023000	0.16930	0.036000	0.12997	4.178000	0.58284	0.343000	0.23821	0.491000	0.48974	.	ANKDD1A	-	-		0.776	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2	G	NM_182703	Intron	65204164	+1	no_errors	ENST00000380230	ensembl	human	known	70_37	splice_site	SNP	0.122	A
AP1AR	55435	genome.wustl.edu	37	4	113184201	113184201	+	Missense_Mutation	SNP	C	C	T	rs562537794		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:113184201C>T	ENST00000274000.5	+	6	695	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	AP1AR_ENST00000309703.6_Intron	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	114	Interaction with AP1G1.				cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CGCTGCACAGCGTGAAGCAGC	0.428																																																	0													64.0	72.0	69.0					4																	113184201		2203	4300	6503	SO:0001583	missense	55435			AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.340C>T	4.37:g.113184201C>T	ENSP00000274000:p.Arg114Cys		B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	NULL	p.R114C	ENST00000274000.5	37	c.340	CCDS3696.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.062250	0.93846	.	.	ENSG00000138660	ENST00000274000	T	0.62105	0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.79897	-0.1609	10	0.87932	D	0	-6.1015	19.5	0.95090	0.0:1.0:0.0:0.0	.	114;114	B2RCV7;Q63HQ0	.;AP1AR_HUMAN	C	114	ENSP00000274000:R114C	ENSP00000274000:R114C	R	+	1	0	AP1AR	113403650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.194000	0.77789	2.605000	0.88082	0.561000	0.74099	CGT	AP1AR	-	NULL		0.428	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1AR	HGNC	protein_coding	OTTHUMT00000256323.2	C	NM_018569		113184201	+1	no_errors	ENST00000274000	ensembl	human	known	70_37	missense	SNP	1.000	T
ARFGEF2	10564	genome.wustl.edu	37	20	47611012	47611012	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:47611012G>A	ENST00000371917.4	+	22	2998	c.2998G>A	c.(2998-3000)Gag>Aag	p.E1000K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1000					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGCCAGCTGGAGCTCGCTCA	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													70.0	65.0	67.0					20																	47611012		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2998G>A	20.37:g.47611012G>A	ENSP00000360985:p.Glu1000Lys		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1000K	ENST00000371917.4	37	c.2998	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.834040	0.97003	.	.	ENSG00000124198	ENST00000371917	T	0.66280	-0.2	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86808	0.1996	10	0.72032	D	0.01	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1000	Q9Y6D5	BIG2_HUMAN	K	1000	ENSP00000360985:E1000K	ENSP00000360985:E1000K	E	+	1	0	ARFGEF2	47044419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GAG	ARFGEF2	-	superfamily_ARM-type_fold		0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47611012	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP31	57514	genome.wustl.edu	37	3	119133187	119133187	+	Missense_Mutation	SNP	C	C	T	rs34762342		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:119133187C>T	ENST00000264245.4	+	12	2943	c.2411C>T	c.(2410-2412)cCg>cTg	p.P804L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	804					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAGGGCGGCCCGGAAAGAGAA	0.562																																					Pancreas(7;176 297 5394 51128 51241)												0													55.0	56.0	56.0					3																	119133187		1886	4105	5991	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2411C>T	3.37:g.119133187C>T	ENSP00000264245:p.Pro804Leu		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P804L	ENST00000264245.4	37	c.2411	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008664	0.54361	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08458	3.09	5.3	2.46	0.29980	.	0.000000	0.64402	D	0.000015	T	0.05868	0.0153	L	0.32530	0.975	0.09310	N	0.999993	B	0.22211	0.066	B	0.12837	0.008	T	0.30937	-0.9961	10	0.87932	D	0	.	4.1273	0.10133	0.1728:0.5809:0.0:0.2463	.	804	Q2M1Z3	RHG31_HUMAN	L	804	ENSP00000264245:P804L	ENSP00000264245:P804L	P	+	2	0	ARHGAP31	120615877	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	0.209000	0.17435	0.796000	0.33947	-0.181000	0.13052	CCG	ARHGAP31	-	NULL		0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	C			119133187	+1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.012	T
ARHGAP40	343578	genome.wustl.edu	37	20	37278408	37278408	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:37278408C>G	ENST00000373345.4	+	15	1954	c.1786C>G	c.(1786-1788)Cgc>Ggc	p.R596G		NM_001164431.1	NP_001157903.1	Q5TG30	RHG40_HUMAN	Rho GTPase activating protein 40	596					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)	1						AGATGAGCATCGCCTGGACCC	0.577																																																	0													192.0	168.0	175.0					20																	37278408		692	1591	2283	SO:0001583	missense	343578			AL035419		20q11.23	2011-06-29	2010-04-14	2010-04-14	ENSG00000124143	ENSG00000124143		"""Rho GTPase activating proteins"""	16226	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 95"""	C20orf95			Standard	NM_001164431		Approved	dJ1100H13.4	uc021wdn.1	Q5TG30	OTTHUMG00000032453	ENST00000373345.4:c.1786C>G	20.37:g.37278408C>G	ENSP00000362442:p.Arg596Gly			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R596G	ENST00000373345.4	37	c.1786		20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	12.16|12.16|12.16	1.854900|1.854900|1.854900	0.32791|0.32791|0.32791	.|.|.	.|.|.	ENSG00000124143|ENSG00000124143|ENSG00000124143	ENST00000414158|ENST00000373345|ENST00000243967;ENST00000373346	.|T|.	.|0.08008|.	.|3.14|.	4.02|4.02|4.02	2.92|2.92|2.92	0.33932|0.33932|0.33932	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.40067|0.40067|0.40067	0.1102|0.1102|0.1102	L|L|L	0.53249|0.53249|0.53249	1.67|1.67|1.67	0.29573|0.29573|0.29573	N|N|N	0.849744|0.849744|0.849744	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.37502|0.37502|0.37502	-0.9703|-0.9703|-0.9703	5|7|5	.|0.02654|.	.|T|.	.|1|.	.|.|.	4.1719|4.1719|4.1719	0.10334|0.10334|0.10334	0.0:0.7588:0.0:0.2412|0.0:0.7588:0.0:0.2412|0.0:0.7588:0.0:0.2412	.|.|.	.|.|.	.|.|.	.|.|.	M|G|W	43|596|536;127	.|ENSP00000362442:R596G|.	.|ENSP00000362442:R596G|.	I|R|S	+|+|+	3|1|2	3|0|0	ARHGAP40|ARHGAP40|ARHGAP40	36711822|36711822|36711822	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	3.025000|3.025000|3.025000	0.49681|0.49681|0.49681	1.823000|1.823000|1.823000	0.53134|0.53134|0.53134	0.632000|0.632000|0.632000	0.83419|0.83419|0.83419	ATC|CGC|TCG	ARHGAP40	-	NULL		0.577	ARHGAP40-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP40	HGNC	protein_coding		C	XM_293123		37278408	+1	no_errors	ENST00000373345	ensembl	human	known	70_37	missense	SNP	1.000	G
ARMC4	55130	genome.wustl.edu	37	10	28273115	28273115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:28273115G>C	ENST00000305242.5	-	5	772	c.680C>G	c.(679-681)tCa>tGa	p.S227*	ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.S84*|ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000545014.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	227					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATCAAACCTGAGGTATATTC	0.328																																																	0													155.0	158.0	157.0					10																	28273115		2202	4300	6502	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.680C>G	10.37:g.28273115G>C	ENSP00000306410:p.Ser227*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.S227*	ENST00000305242.5	37	c.680	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.105614	0.97286	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	.	.	.	5.37	4.45	0.53987	.	0.138558	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-2.8347	8.7143	0.34401	0.0771:0.0:0.6786:0.2442	.	.	.	.	X	227;121;84	.	ENSP00000239715:S84X	S	-	2	0	ARMC4	28313121	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.571000	0.60879	2.659000	0.90383	0.655000	0.94253	TCA	ARMC4	-	NULL		0.328	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	G	NM_018076		28273115	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ART5	116969	genome.wustl.edu	37	11	3663063	3663063	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:3663063G>A	ENST00000397068.3	-	1	422	c.30C>T	c.(28-30)ctC>ctT	p.L10L	ART5_ENST00000397067.3_Silent_p.L10L|ART5_ENST00000359918.4_Silent_p.L10L	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	10					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGAGGCTGCCGAGGGCGATCA	0.657																																																	0													25.0	25.0	25.0					11																	3663063		2186	4269	6455	SO:0001819	synonymous_variant	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.30C>T	11.37:g.3663063G>A			C9IYG7|Q6UX84|Q86W02	Silent	SNP	pfam_ART,prints_ART	p.L10	ENST00000397068.3	37	c.30	CCDS7743.1	11																																																																																			ART5	-	NULL		0.657	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	G	NM_053017		3663063	-1	no_errors	ENST00000359918	ensembl	human	known	70_37	silent	SNP	0.238	A
ASB17	127247	genome.wustl.edu	37	1	76384652	76384652	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:76384652C>T	ENST00000284142.6	-	3	1012	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	291	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTTCTAAATTCAGATAGTTTT	0.328																																																	0													125.0	127.0	127.0					1																	76384652		2203	4300	6503	SO:0001819	synonymous_variant	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.873G>A	1.37:g.76384652C>T			B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.L291	ENST00000284142.6	37	c.873	CCDS671.1	1																																																																																			ASB17	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.328	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	C	NM_080868		76384652	-1	no_errors	ENST00000284142	ensembl	human	known	70_37	silent	SNP	1.000	T
ATG2B	55102	genome.wustl.edu	37	14	96777609	96777609	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:96777609C>G	ENST00000359933.4	-	28	4899	c.4006G>C	c.(4006-4008)Gag>Cag	p.E1336Q	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1336					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTGTAACTCAAAGCGGGGC	0.388																																																	0													109.0	105.0	106.0					14																	96777609		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4006G>C	14.37:g.96777609C>G	ENSP00000353010:p.Glu1336Gln		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E1336Q	ENST00000359933.4	37	c.4006	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512172	0.85389	.	.	ENSG00000066739	ENST00000359933	T	0.16597	2.33	5.48	4.57	0.56435	.	0.315851	0.33753	N	0.004594	T	0.41236	0.1150	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34329	-0.9833	10	0.59425	D	0.04	.	16.0805	0.81003	0.0:0.8658:0.1342:0.0	.	1336	Q96BY7	ATG2B_HUMAN	Q	1336	ENSP00000353010:E1336Q	ENSP00000353010:E1336Q	E	-	1	0	ATG2B	95847362	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	5.508000	0.67006	1.273000	0.44346	0.655000	0.94253	GAG	ATG2B	-	NULL		0.388	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96777609	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G
ATG9A	79065	genome.wustl.edu	37	2	220088626	220088626	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:220088626G>A	ENST00000409618.1	-	9	1823	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	ATG9A_ENST00000409422.1_Missense_Mutation_p.R401W|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.R462W|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.R462W			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	462					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGTCCCGGGTCTGCGAG	0.612																																																	0													80.0	90.0	87.0					2																	220088626		2149	4265	6414	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1384C>T	2.37:g.220088626G>A	ENSP00000386710:p.Arg462Trp		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.R462W	ENST00000409618.1	37	c.1384	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419541	0.62622	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.41758	1.6;1.6;1.6;1.16;0.99	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79271	-0.1872	10	0.87932	D	0	-16.3011	15.5064	0.75745	0.0:0.0:0.8533:0.1467	.	462	Q7Z3C6	ATG9A_HUMAN	W	462;462;462;401;21	ENSP00000379983:R462W;ENSP00000386710:R462W;ENSP00000355173:R462W;ENSP00000386535:R401W;ENSP00000400234:R21W	ENSP00000355173:R462W	R	-	1	2	ATG9A	219796870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.064000	0.64338	2.682000	0.91365	0.585000	0.79938	CGG	ATG9A	-	pfam_Autophagy-rel_prot_9		0.612	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	G	NM_024085		220088626	-1	no_errors	ENST00000361242	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP6V0A2	23545	genome.wustl.edu	37	12	124228764	124228764	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:124228764C>T	ENST00000330342.3	+	11	1454	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	402					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTACCATCATCACCTTCCCGT	0.368																																																	0													265.0	241.0	249.0					12																	124228764		2203	4300	6503	SO:0001819	synonymous_variant	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1206C>T	12.37:g.124228764C>T			A8K026|Q6NUM0	Silent	SNP	pfam_ATPase_V0/A0_a	p.I402	ENST00000330342.3	37	c.1206	CCDS9254.1	12																																																																																			ATP6V0A2	-	pfam_ATPase_V0/A0_a		0.368	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	C	NM_012463		124228764	+1	no_errors	ENST00000330342	ensembl	human	known	70_37	silent	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	70037774	70037774	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:70037774G>A	ENST00000370598.1	+	22	3849	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N	BAI3_ENST00000238918.8_Missense_Mutation_p.D216N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1010					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATATGGCACTGATCACTAGTA	0.393																																																	0													135.0	111.0	119.0					6																	70037774		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3028G>A	6.37:g.70037774G>A	ENSP00000359630:p.Asp1010Asn		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.D1010N	ENST00000370598.1	37	c.3028	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110537	0.37242	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.35605	1.3;1.3	5.75	5.75	0.90469	GPCR, family 2-like (1);	0.108692	0.64402	D	0.000009	T	0.09423	0.0232	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.19935	0.04;0.04;0.009	B;B;B	0.25614	0.062;0.038;0.032	T	0.10590	-1.0623	10	0.34782	T	0.22	.	9.7818	0.40653	0.073:0.1412:0.7859:0.0	.	216;1010;1010	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	N	1010;216	ENSP00000359630:D1010N;ENSP00000238918:D216N	ENSP00000238918:D216N	D	+	1	0	BAI3	70094495	0.823000	0.29233	0.999000	0.59377	0.988000	0.76386	1.765000	0.38481	2.721000	0.93114	0.655000	0.94253	GAT	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70037774	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	0.988	A
BICD2	23299	genome.wustl.edu	37	9	95477650	95477650	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95477650G>A	ENST00000375512.3	-	7	2421	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	BICD2_ENST00000356884.6_Missense_Mutation_p.A785V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637																																																	0													34.0	32.0	33.0					9																	95477650		2203	4299	6502	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2354C>T	9.37:g.95477650G>A	ENSP00000364662:p.Ala785Val		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.A785V	ENST00000375512.3	37	c.2354	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.459818	0.96240	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.65178	-0.14;-0.14	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.78934	-0.2008	10	0.27785	T	0.31	-25.4584	16.588	0.84732	0.0:0.0:1.0:0.0	.	785;785	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	785	ENSP00000349351:A785V;ENSP00000364662:A785V	ENSP00000349351:A785V	A	-	2	0	BICD2	94517471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.593000	0.87608	0.655000	0.94253	GCC	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	G	NM_015250		95477650	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	A
BICD2	23299	genome.wustl.edu	37	9	95481751	95481751	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95481751C>T	ENST00000375512.3	-	5	1243	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	BICD2_ENST00000356884.6_Silent_p.E392E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	392					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACTCAGATTCTCTGTGAGGC	0.642																																																	0													55.0	53.0	54.0					9																	95481751		2203	4300	6503	SO:0001819	synonymous_variant	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1176G>A	9.37:g.95481751C>T			O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E392	ENST00000375512.3	37	c.1176	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95481751	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	silent	SNP	1.000	T
BMPER	168667	genome.wustl.edu	37	7	34125571	34125571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:34125571C>T	ENST00000297161.2	+	14	1986	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	BMPER_ENST00000426693.1_Nonsense_Mutation_p.Q538*	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	538	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAACAGACCTCAGAGAAAGCC	0.483																																																	0													153.0	142.0	146.0					7																	34125571		2203	4300	6503	SO:0001587	stop_gained	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1612C>T	7.37:g.34125571C>T	ENSP00000297161:p.Gln538*		A8K1P8|Q8TF36	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.Q538*	ENST00000297161.2	37	c.1612	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	C	43	9.950904	0.99303	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	.	.	.	6.08	5.19	0.71726	.	0.401484	0.30714	N	0.009028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	16.8393	0.85964	0.1297:0.8703:0.0:0.0	.	.	.	.	X	538	.	ENSP00000297161:Q538X	Q	+	1	0	BMPER	34092096	0.734000	0.28142	0.717000	0.30585	0.986000	0.74619	2.880000	0.48530	1.573000	0.49748	0.655000	0.94253	CAG	BMPER	-	NULL		0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	C	NM_133468		34125571	+1	no_errors	ENST00000297161	ensembl	human	known	70_37	nonsense	SNP	0.958	T
BZRAP1	9256	genome.wustl.edu	37	17	56399684	56399684	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56399684G>A	ENST00000343736.4	-	10	1570	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	BZRAP1_ENST00000268893.6_Silent_p.V409V|BZRAP1_ENST00000355701.3_Silent_p.V469V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	469						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTCTCCGGACCTCCTCCT	0.627																																																	0													59.0	62.0	61.0					17																	56399684		2203	4300	6503	SO:0001819	synonymous_variant	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1407C>T	17.37:g.56399684G>A			O75111|Q8N5W3	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.V469	ENST00000343736.4	37	c.1407	CCDS11605.1	17																																																																																			BZRAP1	-	NULL		0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	G	NM_004758		56399684	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	silent	SNP	1.000	A
C16orf59	80178	genome.wustl.edu	37	16	2514077	2514077	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:2514077G>A	ENST00000361837.4	+	9	1067	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	C16orf59_ENST00000569496.1_Silent_p.G334G|RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000483320.1_Silent_p.G167G|C16orf59_ENST00000563531.1_Silent_p.G334G	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	334										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GTCCTGTGGGGAGGCCCCCCG	0.667																																																	0													21.0	26.0	24.0					16																	2514077		1955	4136	6091	SO:0001819	synonymous_variant	80178			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.1002G>A	16.37:g.2514077G>A			B4DXD7|Q96H61|Q9H872	Silent	SNP	NULL	p.G334	ENST00000361837.4	37	c.1002	CCDS10468.2	16																																																																																			C16orf59	-	NULL		0.667	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf59	HGNC	protein_coding	OTTHUMT00000250802.3	G	NM_025108		2514077	+1	no_errors	ENST00000361837	ensembl	human	known	70_37	silent	SNP	0.000	A
C16orf96	342346	genome.wustl.edu	37	16	4641742	4641742	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:4641742G>C	ENST00000444310.4	+	10	2668	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GCTGCTGATTGAGGGCTTAAG	0.557																																																	0													138.0	135.0	136.0					16																	4641742		692	1591	2283	SO:0001583	missense	342346				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.2668G>C	16.37:g.4641742G>C	ENSP00000415027:p.Glu890Gln			Missense_Mutation	SNP	NULL	p.E890Q	ENST00000444310.4	37	c.2668	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557721	0.27827	.	.	ENSG00000205832	ENST00000444310	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.55940	0.1952	L	0.45137	1.4	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.47471	-0.9115	8	0.56958	D	0.05	.	13.3232	0.60444	0.0:0.0:1.0:0.0	.	890	A6NNT2	CP096_HUMAN	Q	890	.	ENSP00000415027:E890Q	E	+	1	0	C16orf96	4581743	1.000000	0.71417	0.030000	0.17652	0.003000	0.03518	3.913000	0.56394	2.215000	0.71742	0.561000	0.74099	GAG	C16orf96	-	NULL		0.557	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	G	NM_001145011		4641742	+1	no_errors	ENST00000444310	ensembl	human	known	70_37	missense	SNP	0.144	C
C1orf122	127687	genome.wustl.edu	37	1	38274657	38274657	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:38274657C>T	ENST00000373042.4	+	3	504	c.245C>T	c.(244-246)tCa>tTa	p.S82L	C1orf122_ENST00000373043.1_Missense_Mutation_p.S19L|YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000446260.2_Nonsense_Mutation_p.Q111*|C1orf122_ENST00000468084.1_Missense_Mutation_p.S19L			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	82										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				TAGAACGTCTCAGCCAAACCT	0.587																																																	0													57.0	70.0	65.0					1																	38274657		2183	4266	6449	SO:0001583	missense	127687			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.245C>T	1.37:g.38274657C>T	ENSP00000362133:p.Ser82Leu		A2RQF4|E9PQ13|Q56A71	Nonsense_Mutation	SNP	NULL	p.Q111*	ENST00000373042.4	37	c.331	CCDS427.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.573860|3.573860	0.65765|0.65765	.|.	.|.	ENSG00000197982|ENSG00000197982	ENST00000446260|ENST00000373043;ENST00000468084;ENST00000373042	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.204220|.	0.24618|.	N|.	0.036998|.	.|T	.|0.36771	.|0.0979	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.37330	.|0.59	.|B	.|0.38156	.|0.266	.|T	.|0.44513	.|-0.9323	.|8	0.87932|0.87932	D|D	0|0	.|.	15.2065|15.2065	0.73183|0.73183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|82	.|Q6ZSJ8	.|CA122_HUMAN	X|L	111|19;19;82	.|.	ENSP00000389807:Q111X|ENSP00000362133:S82L	Q|S	+|+	1|2	0|0	C1orf122|C1orf122	38047244|38047244	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.371000|1.371000	0.34250|0.34250	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	CAG|TCA	C1orf122	-	NULL		0.587	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf122	HGNC	protein_coding	OTTHUMT00000012471.2	C	NM_198446		38274657	+1	no_errors	ENST00000446260	ensembl	human	known	70_37	nonsense	SNP	1.000	T
C1orf159	54991	genome.wustl.edu	37	1	1019451	1019451	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:1019451C>T	ENST00000379339.1	-	11	1102	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.E262K|C1orf159_ENST00000448924.1_Missense_Mutation_p.E298K|C1orf159_ENST00000379320.1_Missense_Mutation_p.E262K|C1orf159_ENST00000379319.1_Intron			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	298						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTCCTCCTTTCCTGCAGACCC	0.647																																																	0													25.0	30.0	28.0					1																	1019451		2198	4300	6498	SO:0001583	missense	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.892G>A	1.37:g.1019451C>T	ENSP00000368644:p.Glu298Lys		B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	NULL	p.E298K	ENST00000379339.1	37	c.892		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.32|14.32	2.499479|2.499479	0.44455|0.44455	.|.	.|.	ENSG00000131591|ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000379320|ENST00000457999	.|.	.|.	.|.	2.35|2.35	0.374|0.374	0.16183|0.16183	.|.	.|.	.|.	.|.	.|.	T|T	0.35885|0.35885	0.0947|0.0947	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.31730|.	0.337;0.337|.	B;B|.	0.36885|.	0.235;0.235|.	T|T	0.35773|0.35773	-0.9775|-0.9775	7|5	0.87932|0.66056	D|D	0|0.02	.|.	4.0507|4.0507	0.09793|0.09793	0.0:0.617:0.0:0.383|0.0:0.617:0.0:0.383	.|.	298;262|.	Q96HA4;Q5T2W9|.	CA159_HUMAN;.|.	K|E	298;298;262;262|184	.|.	ENSP00000294576:E262K|ENSP00000368629:G173E	E|G	-|-	1|2	0|0	C1orf159|C1orf159	1009314|1009314	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	0.046000|0.046000	0.14035|0.14035	0.338000|0.338000	0.23692|0.23692	0.561000|0.561000	0.74099|0.74099	GAA|GGA	C1orf159	-	NULL		0.647	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf159	HGNC	protein_coding	OTTHUMT00000001851.2	C	NM_017891		1019451	-1	no_errors	ENST00000379339	ensembl	human	known	70_37	missense	SNP	0.000	T
C1orf122	127687	genome.wustl.edu	37	1	38274837	38274837	+	3'UTR	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:38274837C>T	ENST00000373042.4	+	0	684				C1orf122_ENST00000373043.1_3'UTR|YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000446260.2_3'UTR|C1orf122_ENST00000468084.1_3'UTR			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122									p.F140F(1)		kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				GGCCAGTCTTCACTGGCAGTG	0.592																																																	1	Substitution - coding silent(1)	lung(1)											39.0	39.0	39.0					1																	38274837		2203	4300	6503	SO:0001624	3_prime_UTR_variant	127687			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.*92C>T	1.37:g.38274837C>T			A2RQF4|E9PQ13|Q56A71	RNA	SNP	-	NULL	ENST00000373042.4	37	NULL	CCDS427.2	1																																																																																			C1orf122	-	-		0.592	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf122	HGNC	protein_coding	OTTHUMT00000012471.2	C	NM_198446		38274837	+1	no_errors	ENST00000525096	ensembl	human	known	70_37	rna	SNP	1.000	T
MGME1	92667	genome.wustl.edu	37	20	17956539	17956539	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:17956539G>C	ENST00000377710.5	+	3	1012	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000377709.1_Missense_Mutation_p.E162Q	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		CTGTGTGGCTGAGTATCAGTA	0.443																																																	0													102.0	102.0	102.0					20																	17956539		2203	4300	6503	SO:0001583	missense	92667				CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.724G>C	20.37:g.17956539G>C	ENSP00000366939:p.Glu242Gln			Missense_Mutation	SNP	superfamily_Restrct_endonuc-II-like	p.E242Q	ENST00000377710.5	37	c.724	CCDS13131.1	20	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161027	0.38119	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.44881	0.91;0.93	5.49	2.2	0.27929	.	0.410133	0.30101	N	0.010406	T	0.27765	0.0683	L	0.32530	0.975	0.80722	D	1	B	0.25850	0.136	B	0.21917	0.037	T	0.04930	-1.0917	10	0.19147	T	0.46	-11.1138	9.904	0.41364	0.3119:0.0:0.6881:0.0	.	242	Q9BQP7	CT072_HUMAN	Q	242;162	ENSP00000366939:E242Q;ENSP00000366938:E162Q	ENSP00000366938:E162Q	E	+	1	0	C20orf72	17904539	0.907000	0.30839	0.993000	0.49108	0.987000	0.75469	1.072000	0.30678	0.195000	0.20347	0.655000	0.94253	GAG	C20orf72	-	superfamily_Restrct_endonuc-II-like		0.443	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf72	HGNC	protein_coding	OTTHUMT00000078139.1	G	NM_052865		17956539	+1	no_errors	ENST00000377710	ensembl	human	known	70_37	missense	SNP	0.992	C
C2orf42	54980	genome.wustl.edu	37	2	70408572	70408572	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:70408572C>T	ENST00000264434.2	-	3	925	c.546G>A	c.(544-546)caG>caA	p.Q182Q	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Silent_p.Q182Q	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	182										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TAGTAATTCTCTGCACCAGAG	0.498																																																	0													96.0	94.0	95.0					2																	70408572		2203	4300	6503	SO:0001819	synonymous_variant	54980			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.546G>A	2.37:g.70408572C>T			D6W5G3|Q9H629	Silent	SNP	NULL	p.Q182	ENST00000264434.2	37	c.546	CCDS1899.1	2																																																																																			C2orf42	-	NULL		0.498	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	C	NM_017880		70408572	-1	no_errors	ENST00000264434	ensembl	human	known	70_37	silent	SNP	1.000	T
C2orf68	388969	genome.wustl.edu	37	2	85838793	85838793	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:85838793C>T	ENST00000306336.5	-	2	268	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	USP39_ENST00000459775.1_Intron|C2orf68_ENST00000478626.1_5'UTR|C2orf68_ENST00000409734.3_Missense_Mutation_p.R75Q|USP39_ENST00000450066.2_5'Flank	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	75										breast(1)|central_nervous_system(1)|endometrium(1)	3						GGCCTCACCTCGGTGTCGCGG	0.667																																																	0													4.0	6.0	6.0					2																	85838793		1749	3839	5588	SO:0001583	missense	388969				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.224G>A	2.37:g.85838793C>T	ENSP00000304410:p.Arg75Gln		B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	pfam_UPF0561	p.R75Q	ENST00000306336.5	37	c.224	CCDS42704.1	2	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767827	0.69878	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	L	0.44542	1.39	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.933	T	0.64947	-0.6287	9	0.37606	T	0.19	-10.2317	16.8002	0.85612	0.0:1.0:0.0:0.0	.	75;75	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	Q	75	.	ENSP00000304410:R75Q	R	-	2	0	C2orf68	85692304	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	4.130000	0.57964	2.832000	0.97577	0.585000	0.79938	CGA	C2orf68	-	pfam_UPF0561		0.667	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	C	NM_001013649		85838793	-1	no_errors	ENST00000306336	ensembl	human	known	70_37	missense	SNP	1.000	T
C9orf66	157983	genome.wustl.edu	37	9	214656	214656	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:214656C>T	ENST00000382387.2	-	1	1237	c.741G>A	c.(739-741)ccG>ccA	p.P247P	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	247	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGCTCCCTTCGGCCGGAGGT	0.751																																																	0													9.0	10.0	9.0					9																	214656		2188	4268	6456	SO:0001819	synonymous_variant	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.741G>A	9.37:g.214656C>T			Q96NB0	Silent	SNP	NULL	p.P247	ENST00000382387.2	37	c.741	CCDS6439.1	9																																																																																			C9orf66	-	NULL		0.751	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	HGNC	protein_coding	OTTHUMT00000055436.1	C	NM_152569		214656	-1	no_errors	ENST00000382387	ensembl	human	known	70_37	silent	SNP	0.002	T
C9orf171	389799	genome.wustl.edu	37	9	135357739	135357739	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:135357739G>C	ENST00000343036.2	+	2	286	c.238G>C	c.(238-240)Gac>Cac	p.D80H	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	80										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TTCTGTTTATGACTCCTCAGC	0.498																																																	0													103.0	96.0	99.0					9																	135357739		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.238G>C	9.37:g.135357739G>C	ENSP00000343290:p.Asp80His		Q147X1	Missense_Mutation	SNP	NULL	p.D80H	ENST00000343036.2	37	c.238	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	5.293	0.239429	0.10023	.	.	ENSG00000188523	ENST00000343036	T	0.25250	1.81	3.65	-6.82	0.01698	.	1.886540	0.02908	N	0.136333	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.18263	0.021	T	0.17228	-1.0376	10	0.14656	T	0.56	.	1.7377	0.02945	0.2295:0.2007:0.4089:0.1609	.	80	Q6ZQR2	CI171_HUMAN	H	80	ENSP00000343290:D80H	ENSP00000343290:D80H	D	+	1	0	C9orf171	134347560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.351000	0.02622	-0.995000	0.03459	-0.136000	0.14681	GAC	C9orf171	-	NULL		0.498	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	G	NM_207417		135357739	+1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	0.000	C
RANBP3	8498	genome.wustl.edu	37	19	5914740	5914740	+	IGR	SNP	C	C	T	rs199545548		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:5914740C>T	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Missense_Mutation_p.R170W|CAPS_ENST00000222125.5_Missense_Mutation_p.R84W|CAPS_ENST00000452990.2_Missense_Mutation_p.R84W	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GGAGTTCCTTCGGGCGCTGCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16911	0.0		0.0	False		,,,				2504	0.0																0													67.0	77.0	73.0					19																	5914740		2203	4299	6502	SO:0001628	intergenic_variant	828			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914740C>T			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R84W	ENST00000340578.6	37	c.250	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168258	0.38315	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.71817	-0.6;-0.6	4.92	1.34	0.21922	EF-hand-like domain (1);	0.567205	0.17126	N	0.186033	T	0.81602	0.4857	M	0.86573	2.825	0.09310	N	1	B;D	0.89917	0.167;1.0	B;D	0.75020	0.021;0.985	T	0.68819	-0.5308	10	0.37606	T	0.19	-24.055	6.2359	0.20762	0.3127:0.5955:0.0:0.0918	.	217;84	Q8NF12;Q13938	.;CAYP1_HUMAN	W	217;84;84	ENSP00000222125:R84W;ENSP00000403263:R84W	ENSP00000222125:R84W	R	+	1	2	CAPS	5865740	0.002000	0.14202	0.991000	0.47740	0.235000	0.25334	0.360000	0.20250	0.055000	0.16094	0.491000	0.48974	CGG	CAPS	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	HGNC	protein_coding	OTTHUMT00000452304.1	C	NM_007322		5914740	+1	no_errors	ENST00000222125	ensembl	human	known	70_37	missense	SNP	0.124	T
CALR	811	genome.wustl.edu	37	19	13049556	13049556	+	Silent	SNP	C	C	G	rs572735736		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:13049556C>G	ENST00000316448.5	+	1	136	c.63C>G	c.(61-63)gtC>gtG	p.V21V		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	21	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	AGCCTGCCGTCTACTTCAAGG	0.711											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15.0	16.0	15.0					19																	13049556		2197	4297	6494	SO:0001819	synonymous_variant	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.63C>G	19.37:g.13049556C>G		684	Q6IAT4|Q9UDG2	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.V21	ENST00000316448.5	37	c.63	CCDS12288.1	19																																																																																			CALR	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin		0.711	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	C	NM_004343		13049556	+1	no_errors	ENST00000316448	ensembl	human	known	70_37	silent	SNP	0.762	G
CASZ1	54897	genome.wustl.edu	37	1	10713654	10713654	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:10713654G>A	ENST00000377022.3	-	11	2777	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	CASZ1_ENST00000344008.5_Silent_p.L820L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	820					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGCACCCAGGAGGCTGGGGG	0.716																																																	0													13.0	18.0	16.0					1																	10713654		2187	4272	6459	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2460C>T	1.37:g.10713654G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L820	ENST00000377022.3	37	c.2460	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.716	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10713654	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC108	255101	genome.wustl.edu	37	2	219870775	219870775	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:219870775G>C	ENST00000341552.5	-	31	4973	c.4890C>G	c.(4888-4890)ttC>ttG	p.F1630L	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.F1630L|CCDC108_ENST00000441968.1_Missense_Mutation_p.F1630L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1630						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTGAGAAGAAGTTAGCCA	0.607																																																	0													33.0	36.0	35.0					2																	219870775		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4890C>G	2.37:g.219870775G>C	ENSP00000340776:p.Phe1630Leu		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.F1630L	ENST00000341552.5	37	c.4890	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299382	0.81136	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07216	3.21;3.21;3.21	5.56	5.56	0.83823	.	0.146927	0.31909	N	0.006877	T	0.25195	0.0612	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.63381	0.914	T	0.00093	-1.2080	10	0.72032	D	0.01	-18.3519	16.4429	0.83907	0.0:0.0:1.0:0.0	.	1630	Q6ZU64	CC108_HUMAN	L	1630	ENSP00000340776:F1630L;ENSP00000413377:F1630L;ENSP00000409117:F1630L	ENSP00000340776:F1630L	F	-	3	2	CCDC108	219579019	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	3.298000	0.51818	2.616000	0.88540	0.655000	0.94253	TTC	CCDC108	-	NULL		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219870775	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	1.000	C
CCNJ	54619	genome.wustl.edu	37	10	97816696	97816696	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:97816696G>A	ENST00000265992.5	+	4	886	c.519G>A	c.(517-519)ttG>ttA	p.L173L	CCNJ_ENST00000534974.1_Silent_p.L173L|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Silent_p.L173L|CCNJ_ENST00000465148.2_Silent_p.L173L|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	173						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TGATTTGCTTGGAAAAGACTA	0.438																																																	0													85.0	83.0	84.0					10																	97816696		2203	4300	6503	SO:0001819	synonymous_variant	54619			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.519G>A	10.37:g.97816696G>A			B7Z4E7|Q86XL1|Q9NV69	Silent	SNP	pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L173	ENST00000265992.5	37	c.519	CCDS7445.1	10																																																																																			CCNJ	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like		0.438	CCNJ-003	KNOWN	basic|CCDS	protein_coding	CCNJ	HGNC	protein_coding	OTTHUMT00000090166.3	G	NM_019084		97816696	+1	no_errors	ENST00000419934	ensembl	human	known	70_37	silent	SNP	1.000	A
CCPG1	9236	genome.wustl.edu	37	15	55669316	55669316	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:55669316G>A	ENST00000310958.6	-	5	583	c.285C>T	c.(283-285)atC>atT	p.I95I	CCPG1_ENST00000569205.1_Silent_p.I95I|CCPG1_ENST00000442196.3_Silent_p.I95I|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Silent_p.I95I	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	95	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCCAATATAGATACTGTCTT	0.353																																																	0													121.0	110.0	113.0					15																	55669316		1835	4096	5931	SO:0001819	synonymous_variant	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.285C>T	15.37:g.55669316G>A			A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	NULL	p.I95	ENST00000310958.6	37	c.285	CCDS42039.1	15																																																																																			CCPG1	-	NULL		0.353	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	G	NM_004748		55669316	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	silent	SNP	0.998	A
CD27	939	genome.wustl.edu	37	12	6559377	6559377	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:6559377G>C	ENST00000266557.3	+	3	536	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	CD27-AS1_ENST00000399492.2_RNA|TAPBPL_ENST00000266556.7_5'Flank|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR|TAPBPL_ENST00000544021.1_5'Flank	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	103					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGCCAATGCTGAGTGTGCCTG	0.592																																																	0													143.0	101.0	115.0					12																	6559377		2203	4300	6503	SO:0001583	missense	939			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.307G>C	12.37:g.6559377G>C	ENSP00000266557:p.Glu103Gln		B2RDZ0	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.E103Q	ENST00000266557.3	37	c.307	CCDS8545.1	12	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500830	0.12822	.	.	ENSG00000139193	ENST00000266557	D	0.91237	-2.81	3.87	1.93	0.25924	TNFR/CD27/30/40/95 cysteine-rich region (3);	1.293160	0.05344	N	0.530692	D	0.85349	0.5676	L	0.32530	0.975	0.09310	N	1	B	0.15141	0.012	B	0.20767	0.031	T	0.71444	-0.4591	10	0.54805	T	0.06	-0.1657	5.2552	0.15544	0.1177:0.2085:0.6739:0.0	.	103	P26842	CD27_HUMAN	Q	103	ENSP00000266557:E103Q	ENSP00000266557:E103Q	E	+	1	0	CD27	6429638	0.030000	0.19436	0.026000	0.17262	0.338000	0.28826	0.026000	0.13599	0.274000	0.22072	0.561000	0.74099	GAG	CD27	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt		0.592	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1	G			6559377	+1	no_errors	ENST00000266557	ensembl	human	known	70_37	missense	SNP	0.053	C
CDADC1	81602	genome.wustl.edu	37	13	49822118	49822118	+	5'UTR	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:49822118G>C	ENST00000251108.6	+	0	58				CDADC1_ENST00000496952.1_3'UTR|CDADC1_ENST00000444959.1_5'UTR|CDADC1_ENST00000538056.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1								hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CGCTAGGGCCGAGATCATGTC	0.607																																																	0													25.0	32.0	30.0					13																	49822118		692	1591	2283	SO:0001623	5_prime_UTR_variant	81602			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.-56G>C	13.37:g.49822118G>C			Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	RNA	SNP	-	NULL	ENST00000251108.6	37	NULL	CCDS9415.1	13																																																																																			CDADC1	-	-		0.607	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDADC1	HGNC	protein_coding	OTTHUMT00000044902.2	G	NM_030911		49822118	+1	no_errors	ENST00000466868	ensembl	human	known	70_37	rna	SNP	0.000	C
CELSR2	1952	genome.wustl.edu	37	1	109795251	109795251	+	Silent	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:109795251C>G	ENST00000271332.3	+	1	2611	c.2550C>G	c.(2548-2550)gtC>gtG	p.V850V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	850	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGGCAGGGTCTTCTACACCT	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)												0													108.0	101.0	103.0					1																	109795251		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2550C>G	1.37:g.109795251C>G			Q5T2Y7|Q92566	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,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.V850	ENST00000271332.3	37	c.2550	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109795251	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	0.880	G
CHD7	55636	genome.wustl.edu	37	8	61654065	61654065	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:61654065G>A	ENST00000423902.2	+	2	553	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CHD7_ENST00000525508.1_Missense_Mutation_p.G25E|CHD7_ENST00000524602.1_Missense_Mutation_p.G25E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	25					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGGCCTCGGAGAATGTGGT	0.468																																																	0													100.0	94.0	96.0					8																	61654065		1904	4128	6032	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.74G>A	8.37:g.61654065G>A	ENSP00000392028:p.Gly25Glu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G25E	ENST00000423902.2	37	c.74	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441691	0.43326	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000526846;ENST00000524602;ENST00000525508	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.19	4.3	0.51218	.	0.000000	0.39020	N	0.001495	T	0.48502	0.1503	L	0.40543	1.245	0.40088	D	0.976216	D	0.54964	0.969	P	0.45506	0.483	T	0.53683	-0.8404	10	0.56958	D	0.05	-14.1281	14.0337	0.64632	0.0:0.1511:0.8489:0.0	.	25	Q9P2D1	CHD7_HUMAN	E	25	ENSP00000392028:G25E;ENSP00000436492:G25E;ENSP00000437061:G25E;ENSP00000436027:G25E	ENSP00000307304:G25E	G	+	2	0	CHD7	61816619	1.000000	0.71417	0.941000	0.38009	0.981000	0.71138	6.262000	0.72514	1.173000	0.42796	0.585000	0.79938	GGA	CHD7	-	NULL		0.468	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61654065	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	0.998	A
CHRM3	1131	genome.wustl.edu	37	1	240071000	240071000	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:240071000C>G	ENST00000255380.4	+	5	1028	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	83					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGTGACCATCATCGGCAACA	0.517																																																	0													136.0	113.0	121.0					1																	240071000		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.249C>G	1.37:g.240071000C>G	ENSP00000255380:p.Ile83Met		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.I83M	ENST00000255380.4	37	c.249	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923677	0.52653	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.41065	1.01;1.01	5.6	5.6	0.85130	.	0.165996	0.53938	D	0.000054	T	0.58935	0.2157	L	0.57536	1.79	0.54753	D	0.999981	D	0.67145	0.996	D	0.68353	0.957	T	0.60047	-0.7339	10	0.87932	D	0	-31.5876	13.2207	0.59885	0.0:0.9274:0.0:0.0726	.	83	P20309	ACM3_HUMAN	M	83	ENSP00000255380:I83M;ENSP00000404764:I83M	ENSP00000255380:I83M	I	+	3	3	CHRM3	238137623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.152000	0.42272	2.788000	0.95919	0.650000	0.86243	ATC	CHRM3	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	C	NM_000740		240071000	+1	no_errors	ENST00000255380	ensembl	human	known	70_37	missense	SNP	1.000	G
CHRM3	1131	genome.wustl.edu	37	1	240072373	240072373	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:240072373C>A	ENST00000255380.4	+	5	2401	c.1622C>A	c.(1621-1623)cCc>cAc	p.P541H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	541					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCGTGAACCCCGTGTGCTAT	0.483																																																	0													95.0	83.0	87.0					1																	240072373		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1622C>A	1.37:g.240072373C>A	ENSP00000255380:p.Pro541His		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.P541H	ENST00000255380.4	37	c.1622	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974808	0.74360	.	.	ENSG00000133019	ENST00000255380	D	0.98807	-5.15	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99616	1.0982	10	0.87932	D	0	-22.4672	19.5758	0.95444	0.0:1.0:0.0:0.0	.	541	P20309	ACM3_HUMAN	H	541	ENSP00000255380:P541H	ENSP00000255380:P541H	P	+	2	0	CHRM3	238138996	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	CCC	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	C	NM_000740		240072373	+1	no_errors	ENST00000255380	ensembl	human	known	70_37	missense	SNP	1.000	A
CHST10	9486	genome.wustl.edu	37	2	101009777	101009777	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:101009777C>T	ENST00000264249.3	-	7	1386	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	CHST10_ENST00000409701.1_Missense_Mutation_p.R334H|CHST10_ENST00000542617.1_Missense_Mutation_p.R382H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	334					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGCATACAGGCGTCGGATGTC	0.463																																																	0													131.0	124.0	126.0					2																	101009777		2203	4300	6503	SO:0001583	missense	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.1001G>A	2.37:g.101009777C>T	ENSP00000264249:p.Arg334His		Q53T18	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R382H	ENST00000264249.3	37	c.1145	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.506025	0.96386	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	-0.98;-0.98;-0.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.85289	0.1066	10	0.59425	D	0.04	-30.282	20.2963	0.98556	0.0:1.0:0.0:0.0	.	334	O43529	CHSTA_HUMAN	H	334;382;334	ENSP00000264249:R334H;ENSP00000438869:R382H;ENSP00000387309:R334H	ENSP00000264249:R334H	R	-	2	0	CHST10	100376209	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.959000	0.63666	2.813000	0.96785	0.655000	0.94253	CGC	CHST10	-	pfam_Sulfotransferase		0.463	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	C	NM_004854		101009777	-1	no_errors	ENST00000542617	ensembl	human	known	70_37	missense	SNP	1.000	T
CLSTN1	22883	genome.wustl.edu	37	1	9794074	9794074	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:9794074T>C	ENST00000377298.4	-	15	3029	c.2237A>G	c.(2236-2238)aAg>aGg	p.K746R	CLSTN1_ENST00000361311.4_Missense_Mutation_p.K736R|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000377288.3_Missense_Mutation_p.K727R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	746					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAATGCCCTTCTGCTGCAG	0.617																																																	0													121.0	89.0	100.0					1																	9794074		2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2237A>G	1.37:g.9794074T>C	ENSP00000366513:p.Lys746Arg		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K746R	ENST00000377298.4	37	c.2237	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	T	4.214	0.038451	0.08148	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.13	4.0	0.46444	.	0.101008	0.64402	D	0.000006	T	0.12433	0.0302	N	0.11106	0.095	0.35523	D	0.801628	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.15484	0.006;0.013;0.006	T	0.22208	-1.0223	10	0.05351	T	0.99	-34.9327	6.9466	0.24522	0.0:0.0764:0.1494:0.7742	.	727;736;746	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	R	746;736;547;727;727	ENSP00000366513:K746R;ENSP00000354997:K736R;ENSP00000401934:K547R;ENSP00000366502:K727R	ENSP00000354997:K736R	K	-	2	0	CLSTN1	9716661	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.878000	0.39608	0.802000	0.34089	0.533000	0.62120	AAG	CLSTN1	-	NULL		0.617	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	T			9794074	-1	no_errors	ENST00000377298	ensembl	human	known	70_37	missense	SNP	1.000	C
CMC2	56942	genome.wustl.edu	37	16	81031011	81031011	+	5'UTR	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:81031011G>A	ENST00000219400.3	-	0	404				CMC2_ENST00000565925.1_5'UTR|CMC2_ENST00000564174.1_5'UTR|CMC2_ENST00000565108.1_5'UTR|CMC2_ENST00000564249.1_5'UTR|CMC2_ENST00000562713.1_5'UTR|CMC2_ENST00000565914.1_5'UTR|CMC2_ENST00000570195.1_5'UTR|CMC2_ENST00000486645.1_5'UTR	NM_020188.3	NP_064573.1	Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2							mitochondrion (GO:0005739)											TTTAGGAGATGAGGATGGATC	0.393																																																	0													140.0	125.0	130.0					16																	81031011		2203	4300	6503	SO:0001623	5_prime_UTR_variant	56942			BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 61"", ""COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"""	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000219400.3:c.-12C>T	16.37:g.81031011G>A			D3DUK6	RNA	SNP	-	NULL	ENST00000219400.3	37	NULL	CCDS10930.1	16																																																																																			CMC2	-	-		0.393	CMC2-001	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	CMC2	HGNC	protein_coding	OTTHUMT00000269047.1	G	NM_020188		81031011	-1	no_errors	ENST00000562828	ensembl	human	putative	70_37	rna	SNP	0.090	A
CNTF	1270	genome.wustl.edu	37	11	58391849	58391849	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:58391849G>C	ENST00000361987.4	+	2	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	153					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGTCTCTTTGAGAAGAAGCT	0.473																																																	0													107.0	105.0	106.0					11																	58391849		2201	4295	6496	SO:0001583	missense	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.457G>C	11.37:g.58391849G>C	ENSP00000355370:p.Glu153Gln		B2RAB2	Missense_Mutation	SNP	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.E153Q	ENST00000361987.4	37	c.457	CCDS31554.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455784	0.84209	.	.	ENSG00000242689	ENST00000361987	T	0.42900	0.96	5.48	5.48	0.80851	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.63558	0.2521	M	0.69823	2.125	0.38482	D	0.94775	D	0.76494	0.999	D	0.68943	0.961	T	0.68842	-0.5302	9	0.72032	D	0.01	-14.4515	16.2686	0.82603	0.0:0.0:1.0:0.0	.	153	P26441	CNTF_HUMAN	Q	153	ENSP00000355370:E153Q	ENSP00000447778:E153Q	E	+	1	0	CNTF	58148425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.492000	0.60334	2.575000	0.86900	0.650000	0.86243	GAG	CNTF	-	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core		0.473	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTF	HGNC	protein_coding	OTTHUMT00000268673.1	G	NM_000614		58391849	+1	no_errors	ENST00000361987	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	147844582	147844582	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:147844582G>A	ENST00000361727.3	+	17	3070		c.e17-1		CNTNAP2_ENST00000538075.1_Splice_Site	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCTCCTCCAGCTGCCACAGA	0.453										HNSCC(39;0.1)																																							0													116.0	117.0	117.0					7																	147844582		2203	4300	6503	SO:0001630	splice_region_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2555-1G>A	7.37:g.147844582G>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	-	e17-1	ENST00000361727.3	37	c.2555-1	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403354	0.83230	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	147475515	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.756000	0.98918	2.507000	0.84556	0.561000	0.74099	.	CNTNAP2	-	-		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G		Intron	147844582	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	splice_site	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238275692	238275692	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:238275692C>T	ENST00000295550.4	-	11	5590	c.5138G>A	c.(5137-5139)gGg>gAg	p.G1713E	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1507E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1513E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1512E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1507E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1106E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1713	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGTCTTCCCCCTTTGTAGAC	0.542																																																	0													95.0	78.0	83.0					2																	238275692		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5138G>A	2.37:g.238275692C>T	ENSP00000295550:p.Gly1713Glu		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G1713E	ENST00000295550.4	37	c.5138	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810681	0.70797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000034	D	0.90535	0.7034	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89653	0.3871	10	0.45353	T	0.12	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	1106;1507;1713	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	1713;1512;1507;1106;1507;1513	ENSP00000295550:G1713E;ENSP00000315609:G1512E;ENSP00000315873:G1507E;ENSP00000418285:G1106E;ENSP00000386844:G1507E;ENSP00000295546:G1513E	ENSP00000295550:G1713E	G	-	2	0	COL6A3	237940431	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	7.755000	0.85180	2.604000	0.88044	0.650000	0.86243	GGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238275692	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	T
CPNE6	9362	genome.wustl.edu	37	14	24545487	24545487	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:24545487G>C	ENST00000397016.2	+	12	1365	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	CPNE6_ENST00000216775.2_Missense_Mutation_p.D352H|CPNE6_ENST00000537691.1_Missense_Mutation_p.D407H	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	352	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCAGGACTATGACAGGTAGGA	0.627																																																	0													77.0	78.0	78.0					14																	24545487		2203	4300	6503	SO:0001583	missense	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1054G>C	14.37:g.24545487G>C	ENSP00000380211:p.Asp352His		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.D407H	ENST00000397016.2	37	c.1219	CCDS9607.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563436	0.86335	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.29655	1.56;1.56;1.56	4.79	4.79	0.61399	von Willebrand factor, type A (2);Copine (1);	0.118428	0.38897	N	0.001522	T	0.68906	0.3052	H	0.97103	3.94	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80471	-0.1368	10	0.87932	D	0	-14.5047	15.3636	0.74503	0.0:0.0:1.0:0.0	.	407;352	F5GXN1;O95741	.;CPNE6_HUMAN	H	407;352;352	ENSP00000440077:D407H;ENSP00000380211:D352H;ENSP00000216775:D352H	ENSP00000216775:D352H	D	+	1	0	CPNE6	23615327	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.620000	0.98373	2.485000	0.83878	0.467000	0.42956	GAC	CPNE6	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A		0.627	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5	G			24545487	+1	no_errors	ENST00000537691	ensembl	human	known	70_37	missense	SNP	1.000	C
CSNK1G2	1455	genome.wustl.edu	37	19	1979936	1979936	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:1979936G>A	ENST00000255641.8	+	11	1608	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	371					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		ACGGGGAGCTGAATGCGGACG	0.706																																					Ovarian(91;880 1392 21236 36928 37598)												0													20.0	22.0	21.0					19																	1979936		2190	4294	6484	SO:0001819	synonymous_variant	1455			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.1113G>A	19.37:g.1979936G>A			B5BU42|O00704|Q8WUB1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L371	ENST00000255641.8	37	c.1113	CCDS12077.1	19																																																																																			CSNK1G2	-	pfam_Casein_kinase-1_gamma_C		0.706	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2	HGNC	protein_coding	OTTHUMT00000449287.1	G	NM_001319		1979936	+1	no_errors	ENST00000255641	ensembl	human	known	70_37	silent	SNP	1.000	A
CSPP1	79848	genome.wustl.edu	37	8	68102956	68102956	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:68102956C>T	ENST00000262210.5	+	27	3308	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W	CSPP1_ENST00000412460.1_Missense_Mutation_p.R748W|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1128					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCCTCTGCACGGGAGCGCAG	0.502																																																	0													105.0	102.0	103.0					8																	68102956		1950	4135	6085	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3277C>T	8.37:g.68102956C>T	ENSP00000262210:p.Arg1093Trp		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.R1093W	ENST00000262210.5	37	c.3277	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778417	0.49786	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.66815	-0.23;-0.2;-0.2	4.42	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.78750	-0.2082	10	0.87932	D	0	-12.1488	9.5396	0.39244	0.8122:0.1878:0.0:0.0	.	251;748;1093;1128	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	W	1093;1128;748;748	ENSP00000262210:R1093W;ENSP00000415782:R748W;ENSP00000430092:R748W	ENSP00000262210:R1093W	R	+	1	2	CSPP1	68265510	0.908000	0.30866	0.794000	0.32065	0.372000	0.29890	1.688000	0.37690	1.035000	0.39972	-0.271000	0.10264	CGG	CSPP1	-	NULL		0.502	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	C	NM_024790		68102956	+1	no_errors	ENST00000262210	ensembl	human	known	70_37	missense	SNP	0.879	T
CUBN	8029	genome.wustl.edu	37	10	16981092	16981092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:16981092C>T	ENST00000377833.4	-	38	5668	c.5603G>A	c.(5602-5604)tGg>tAg	p.W1868*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1868	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTTTCAGGCCAGAAAGGAGA	0.418																																																	0													150.0	136.0	141.0					10																	16981092		2203	4300	6503	SO:0001587	stop_gained	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5603G>A	10.37:g.16981092C>T	ENSP00000367064:p.Trp1868*		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.W1868*	ENST00000377833.4	37	c.5603	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.657010	0.99686	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.12	5.12	0.69794	.	0.000000	0.41500	D	0.000865	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9012	0.92443	0.0:1.0:0.0:0.0	.	.	.	.	X	1868	.	ENSP00000367064:W1868X	W	-	2	0	CUBN	17021098	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.089000	0.57685	2.541000	0.85698	0.585000	0.79938	TGG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16981092	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CXorf67	340602	genome.wustl.edu	37	X	51150670	51150670	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:51150670C>T	ENST00000342995.2	+	1	904	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	268										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						AGGCCCTGCCCGCCGAGGCCG	0.706																																																	0													9.0	10.0	9.0					X																	51150670		2172	4206	6378	SO:0001583	missense	340602			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.802C>T	X.37:g.51150670C>T	ENSP00000342680:p.Arg268Cys			Missense_Mutation	SNP	NULL	p.R268C	ENST00000342995.2	37	c.802		X	.	.	.	.	.	.	.	.	.	.	c	12.94	2.089486	0.36855	.	.	ENSG00000187690	ENST00000342995	T	0.48836	0.8	3.17	-0.838	0.10762	.	1.764830	0.03494	N	0.217033	T	0.29684	0.0741	.	.	.	0.09310	N	1	B	0.25390	0.125	B	0.12156	0.007	T	0.10474	-1.0628	9	0.42905	T	0.14	0.2733	1.5904	0.02653	0.1645:0.461:0.1587:0.2157	.	268	Q86X51	CX067_HUMAN	C	268	ENSP00000342680:R268C	ENSP00000342680:R268C	R	+	1	0	CXorf67	51167410	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.423000	0.01030	-0.337000	0.08426	0.479000	0.44913	CGC	CXorf67	-	NULL		0.706	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		C	NM_203407		51150670	+1	no_errors	ENST00000342995	ensembl	human	known	70_37	missense	SNP	0.000	T
CYB5R2	51700	genome.wustl.edu	37	11	7686762	7686762	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:7686762G>A	ENST00000533558.1	-	9	1230	c.674C>T	c.(673-675)tCa>tTa	p.S225L	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.S225L|CYB5R2_ENST00000524790.1_3'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	225					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACGAAGCCTGAGCTGTACTT	0.602											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	67.0	71.0					11																	7686762		2201	4296	6497	SO:0001583	missense	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.674C>T	11.37:g.7686762G>A	ENSP00000437041:p.Ser225Leu	643	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.S225L	ENST00000533558.1	37	c.674	CCDS7780.1	11	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642241	0.29157	.	.	ENSG00000166394	ENST00000299498;ENST00000533558	D;D	0.86694	-2.16;-2.16	5.8	3.94	0.45596	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.758190	0.12844	N	0.434574	D	0.85084	0.5616	M	0.64676	1.99	0.20196	N	0.999923	B	0.14438	0.01	B	0.27608	0.081	T	0.72297	-0.4335	10	0.27785	T	0.31	-0.2222	9.9572	0.41675	0.1623:0.0:0.8377:0.0	.	225	Q6BCY4	NB5R2_HUMAN	L	225	ENSP00000299498:S225L;ENSP00000437041:S225L	ENSP00000299498:S225L	S	-	2	0	CYB5R2	7643338	0.697000	0.27767	0.927000	0.36925	0.743000	0.42351	1.525000	0.35953	0.808000	0.34231	0.655000	0.94253	TCA	CYB5R2	-	pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.602	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	G	NM_016229		7686762	-1	no_errors	ENST00000299498	ensembl	human	known	70_37	missense	SNP	0.198	A
CYBB	1536	genome.wustl.edu	37	X	37668873	37668873	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:37668873G>A	ENST00000378588.4	+	12	1582	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.L238L|CYBB_ENST00000545017.1_Silent_p.L473L	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	505			L -> R (in CGD; dbSNP:rs151344490). {ECO:0000269|PubMed:11462241}.		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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TCACAGGCCTGAAACAAAAGA	0.408																																																	0													104.0	79.0	88.0					X																	37668873		2202	4299	6501	SO:0001819	synonymous_variant	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1515G>A	X.37:g.37668873G>A			A8K138|Q2PP16	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L505	ENST00000378588.4	37	c.1515	CCDS14242.1	X																																																																																			CYBB	-	pfam_Fe_red_NAD-bd_6		0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	G			37668873	+1	no_errors	ENST00000378588	ensembl	human	known	70_37	silent	SNP	0.986	A
CYFIP1	23191	genome.wustl.edu	37	15	22990104	22990104	+	Silent	SNP	C	C	T	rs145238748		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:22990104C>T	ENST00000313077.7	+	24	2849	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	CYFIP1_ENST00000560848.1_Silent_p.F908F|CYFIP1_ENST00000435939.2_Silent_p.F477F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACCGGAACTTCGTGGGACCTC	0.567																																																	0								C	,	0,4406		0,0,2203	103.0	96.0	98.0		1431,2724	-5.3	0.8	15	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYFIP1	NM_001033028.1,NM_014608.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	477/823,908/1254	22990104	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2724C>T	15.37:g.22990104C>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.F908	ENST00000313077.7	37	c.2724	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.567	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	C	NM_014608		22990104	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	silent	SNP	0.906	T
DAG1	1605	genome.wustl.edu	37	3	49569062	49569062	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:49569062G>A	ENST00000539901.1	+	3	1676	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	DAG1_ENST00000308775.2_Missense_Mutation_p.R373Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R373Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R373Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R373Q|DAG1_ENST00000545947.1_Missense_Mutation_p.R373Q	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	373	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATCCGGACTCGAGGCGCCATT	0.597																																																	0													98.0	102.0	100.0					3																	49569062		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1118G>A	3.37:g.49569062G>A	ENSP00000439334:p.Arg373Gln		A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.R373Q	ENST00000539901.1	37	c.1118	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219583	0.79464	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.65	5.65	0.86999	.	0.054481	0.64402	D	0.000002	T	0.63189	0.2490	M	0.63428	1.95	0.49130	D	0.99975	D	0.76494	0.999	D	0.75484	0.986	T	0.60052	-0.7338	9	.	.	.	-5.8956	18.4838	0.90821	0.0:0.0:1.0:0.0	.	373	Q14118	DAG1_HUMAN	Q	373	ENSP00000440705:R373Q;ENSP00000312435:R373Q;ENSP00000442600:R373Q;ENSP00000440590:R373Q;ENSP00000439334:R373Q;ENSP00000438421:R373Q	.	R	+	2	0	DAG1	49544066	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.655000	0.90218	0.591000	0.81541	CGA	DAG1	-	NULL		0.597	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	G			49569062	+1	no_errors	ENST00000308775	ensembl	human	known	70_37	missense	SNP	0.989	A
DCDC2B	149069	genome.wustl.edu	37	1	32681106	32681106	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:32681106G>C	ENST00000409358.1	+	8	916	c.916G>C	c.(916-918)Gat>Cat	p.D306H	TMEM234_ENST00000485689.1_5'Flank	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	306					intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAAGTAGCAGATGATGAAGA	0.557											OREG0013329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													59.0	64.0	62.0					1																	32681106		2105	4259	6364	SO:0001583	missense	149069			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.916G>C	1.37:g.32681106G>C	ENSP00000386870:p.Asp306His	834	B7ZBC6	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.D306H	ENST00000409358.1	37	c.916	CCDS44100.1	1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893672	0.72639	.	.	ENSG00000222046	ENST00000409358	T	0.36699	1.24	4.81	3.89	0.44902	.	.	.	.	.	T	0.49133	0.1539	L	0.51422	1.61	0.80722	D	1	P	0.52692	0.955	P	0.58077	0.832	T	0.54002	-0.8358	9	0.87932	D	0	.	14.5079	0.67764	0.0:0.1479:0.852:0.0	.	306	A2VCK2	DCD2B_HUMAN	H	306	ENSP00000386870:D306H	ENSP00000386870:D306H	D	+	1	0	DCDC2B	32453693	0.998000	0.40836	0.517000	0.27799	0.942000	0.58702	3.361000	0.52306	1.394000	0.46624	0.655000	0.94253	GAT	DCDC2B	-	NULL		0.557	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2B	HGNC	protein_coding	OTTHUMT00000328293.1	G	XM_940631		32681106	+1	no_errors	ENST00000409358	ensembl	human	known	70_37	missense	SNP	0.994	C
DDX11	1663	genome.wustl.edu	37	12	31237918	31237918	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:31237918G>A	ENST00000407793.2	+	5	747	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	DDX11_ENST00000350437.4_Missense_Mutation_p.E166K|DDX11_ENST00000542838.1_Missense_Mutation_p.E166K|DDX11_ENST00000228264.6_Missense_Mutation_p.E140K|DDX11_ENST00000251758.5_Missense_Mutation_p.E166K|DDX11_ENST00000545668.1_Missense_Mutation_p.E166K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	166	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAAGAAGAAGAAAGAGAGAA	0.602										Multiple Myeloma(12;0.14)																																							0													18.0	20.0	19.0					12																	31237918		2202	4299	6501	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.496G>A	12.37:g.31237918G>A	ENSP00000384703:p.Glu166Lys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E166K	ENST00000407793.2	37	c.496	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561262	0.45590	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.58210	3.99;3.99;3.99;3.99;0.35;3.99;3.99;3.99	3.87	3.87	0.44632	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.056511	0.64402	D	0.000002	T	0.59595	0.2205	L	0.43757	1.38	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.85130	0.994;0.985;0.997;0.997	T	0.53781	-0.8390	10	0.08599	T	0.76	.	13.4362	0.61086	0.0:0.0:1.0:0.0	.	166;166;166;166	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	166;166;166;140;137;140;166;166	ENSP00000443426:E166K;ENSP00000384703:E166K;ENSP00000251758:E166K;ENSP00000228264:E140K;ENSP00000407646:E137K;ENSP00000406457:E140K;ENSP00000440402:E166K;ENSP00000309965:E166K	ENSP00000228264:E140K	E	+	1	0	DDX11	31129185	1.000000	0.71417	0.026000	0.17262	0.001000	0.01503	8.091000	0.89528	2.006000	0.58801	0.505000	0.49811	GAA	DDX11	-	smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	G	NM_030653		31237918	+1	no_errors	ENST00000407793	ensembl	human	known	70_37	missense	SNP	0.982	A
DDX41	51428	genome.wustl.edu	37	5	176939844	176939844	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:176939844C>T	ENST00000507955.1	-	13	1859	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank|DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	446	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGATGGCGTCCACGTCTGCC	0.617																																																	0													148.0	124.0	132.0					5																	176939844		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1336G>A	5.37:g.176939844C>T	ENSP00000422753:p.Asp446Asn		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D446N	ENST00000507955.1	37	c.1336	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.713904	0.96830	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.93659	-3.26;-3.26	5.91	5.91	0.95273	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.95814	0.8844	10	0.87932	D	0	-29.168	20.2857	0.98533	0.0:1.0:0.0:0.0	.	320;446	B3KRK2;Q9UJV9	.;DDX41_HUMAN	N	464;446	ENSP00000330349:D464N;ENSP00000422753:D446N	ENSP00000330349:D464N	D	-	1	0	DDX41	176872450	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.736000	0.84948	2.803000	0.96430	0.650000	0.86243	GAC	DDX41	-	smart_Helicase_C,pfscan_Helicase_C		0.617	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176939844	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	T
DESI2	51029	genome.wustl.edu	37	1	244869026	244869026	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:244869026G>A	ENST00000302550.11	+	5	899	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	DESI2_ENST00000263831.7_Missense_Mutation_p.A141T	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	174						cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										AGAGGATGCTGCCGCATCCGC	0.567																																																	0													43.0	45.0	44.0					1																	244869026		2203	4300	6503	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.520G>A	1.37:g.244869026G>A	ENSP00000306528:p.Ala174Thr		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	pfam_DUF862_euk	p.A174T	ENST00000302550.11	37	c.520	CCDS1626.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887520	0.72410	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.17	6.17	0.99709	.	0.087715	0.85682	N	0.000000	T	0.56717	0.2004	L	0.54323	1.7	0.58432	D	0.999999	P;B	0.42692	0.787;0.319	B;B	0.41510	0.359;0.063	T	0.50600	-0.8809	9	0.11182	T	0.66	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	141;174	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	T	174;141	.	ENSP00000263831:A141T	A	+	1	0	PPPDE1	242935649	1.000000	0.71417	0.060000	0.19600	0.802000	0.45316	7.763000	0.85283	2.941000	0.99782	0.655000	0.94253	GCC	DESI2	-	NULL		0.567	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DESI2	HGNC	protein_coding	OTTHUMT00000097168.1	G	NM_016076		244869026	+1	no_errors	ENST00000302550	ensembl	human	known	70_37	missense	SNP	0.998	A
DIDO1	11083	genome.wustl.edu	37	20	61512312	61512312	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:61512312C>T	ENST00000266070.4	-	16	5321	c.4996G>A	c.(4996-4998)Ggc>Agc	p.G1666S	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1666S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCAGGGCGCCGCAAGGCGGT	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													12.0	14.0	13.0					20																	61512312		2180	4254	6434	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4996G>A	20.37:g.61512312C>T	ENSP00000266070:p.Gly1666Ser		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.G1666S	ENST00000266070.4	37	c.4996	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	9.117	1.007981	0.19199	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.07327	3.2;3.2	5.31	-10.6	0.00265	.	1.116470	0.07013	N	0.825376	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	0.999999	B	0.15930	0.015	B	0.04013	0.001	T	0.35599	-0.9782	10	0.07990	T	0.79	-2.833	5.0414	0.14462	0.0869:0.3809:0.3518:0.1804	.	1666	Q9BTC0	DIDO1_HUMAN	S	1666	ENSP00000266070:G1666S;ENSP00000378752:G1666S	ENSP00000266070:G1666S	G	-	1	0	DIDO1	60982757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.382000	0.02546	-2.499000	0.00511	-0.136000	0.14681	GGC	DIDO1	-	NULL		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61512312	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.000	T
DIP2A	23181	genome.wustl.edu	37	21	47975972	47975972	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr21:47975972G>A	ENST00000417564.2	+	29	3487	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	DIP2A_ENST00000427143.2_Missense_Mutation_p.V1092M|DIP2A_ENST00000318711.7_Missense_Mutation_p.V1157M|DIP2A_ENST00000400274.1_Missense_Mutation_p.V1152M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1156					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGACTTCAGCGTGTCAACCAC	0.498																																																	0													169.0	170.0	170.0					21																	47975972		1942	4135	6077	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3466G>A	21.37:g.47975972G>A	ENSP00000392066:p.Val1156Met		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1157M	ENST00000417564.2	37	c.3469	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284956	0.80803	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.39	5.39	0.77823	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.68723	0.3032	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.993;0.992	T	0.71961	-0.4434	10	0.54805	T	0.06	-25.3207	18.1777	0.89767	0.0:0.0:1.0:0.0	.	1157;1092;1156	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	M	1152;1092;1157;1156	ENSP00000383133:V1152M;ENSP00000400528:V1092M;ENSP00000323633:V1157M;ENSP00000392066:V1156M	ENSP00000323633:V1157M	V	+	1	0	DIP2A	46800400	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.689000	0.98673	2.526000	0.85167	0.563000	0.77884	GTG	DIP2A	-	pfam_AMP-dep_Synth/Lig		0.498	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47975972	+1	no_errors	ENST00000318711	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124267767	124267767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:124267767C>T	ENST00000409039.3	+	7	797	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	258	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q76*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGCTGAATCAGATATCCAC	0.527																																																	1	Substitution - Nonsense(1)	skin(1)											114.0	105.0	108.0					12																	124267767		2203	4300	6503	SO:0001587	stop_gained	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.772C>T	12.37:g.124267767C>T	ENSP00000386770:p.Gln258*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.Q258*	ENST00000409039.3	37	c.772	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830852	0.91036	.	.	ENSG00000197653	ENST00000409039	.	.	.	6.01	6.01	0.97437	.	0.510335	0.19171	N	0.120937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	11.771	0.51958	0.0:0.8906:0.0:0.1094	.	.	.	.	X	258	.	ENSP00000386770:Q258X	Q	+	1	0	DNAH10	122833720	1.000000	0.71417	0.962000	0.40283	0.243000	0.25628	4.281000	0.58965	2.861000	0.98227	0.650000	0.86243	CAG	DNAH10	-	pfam_Dynein_heavy_dom-1		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124267767	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	nonsense	SNP	0.986	T
DNLZ	728489	genome.wustl.edu	37	9	139257548	139257548	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:139257548G>C	ENST00000371738.3	-	2	335	c.261C>G	c.(259-261)tcC>tcG	p.S87S	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_Intron	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	87						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		AGGCCAGCTTGGAGATGCGCT	0.642																																																	0													119.0	104.0	109.0					9																	139257548		2203	4300	6503	SO:0001819	synonymous_variant	728489			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.261C>G	9.37:g.139257548G>C			B2RUX5|B9EJE1	Silent	SNP	pfam_Znf_DNL-typ	p.S87	ENST00000371738.3	37	c.261	CCDS35179.1	9																																																																																			DNLZ	-	pfam_Znf_DNL-typ		0.642	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNLZ	HGNC	protein_coding	OTTHUMT00000055075.2	G	NM_001080849		139257548	-1	no_errors	ENST00000371738	ensembl	human	known	70_37	silent	SNP	1.000	C
DOCK4	9732	genome.wustl.edu	37	7	111449381	111449381	+	Missense_Mutation	SNP	G	G	A	rs192482962	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:111449381G>A	ENST00000437633.1	-	29	3339	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Missense_Mutation_p.S1028F	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1028					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCTTGGAAGGTGTGAA	0.338																																																	0													73.0	66.0	68.0					7																	111449381		1856	4077	5933	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3083C>T	7.37:g.111449381G>A	ENSP00000404179:p.Ser1028Phe		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.S1028F	ENST00000437633.1	37	c.3083	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.485675|4.485675	0.84854|0.84854	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.26518	.|1.73;1.73	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43607	.|0.715;0.715;0.812	.|B;B;P	.|0.50490	.|0.438;0.342;0.642	T|T	0.05257|0.05257	-1.0896|-1.0896	5|10	.|0.66056	.|D	.|0.02	.|.	18.9052|18.9052	0.92458|0.92458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1064;1028;1028	.|Q149N5;Q8N1I0;Q8N1I0-2	.|.;DOCK4_HUMAN;.	S|F	480;1052|1016;1028;1028;1016;1027	.|ENSP00000410746:S1028F;ENSP00000404179:S1028F	.|ENSP00000345432:S1016F	P|S	-|-	1|2	0|0	DOCK4|DOCK4	111236617|111236617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.594000|7.594000	0.82698|0.82698	2.782000|2.782000	0.95742|0.95742	0.557000|0.557000	0.71058|0.71058	CCA|TCC	DOCK4	-	NULL		0.338	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	G	NM_014705		111449381	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56471441	56471441	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:56471441G>C	ENST00000361203.3	-	36	7359	c.7352C>G	c.(7351-7353)tCa>tGa	p.S2451*	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.S2125*|DST_ENST00000370754.5_Nonsense_Mutation_p.S2629*|DST_ENST00000312431.6_Nonsense_Mutation_p.S2451*|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.S2451*			Q03001	DYST_HUMAN	dystonin	2451					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)			ATTCTCTTTTGAGACATCATA	0.448																																																	0													109.0	104.0	105.0					6																	56471441		1888	4131	6019	SO:0001587	stop_gained	667			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.7352C>G	6.37:g.56471441G>C	ENSP00000354508:p.Ser2451*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S2629*	ENST00000361203.3	37	c.7886		6	.	.	.	.	.	.	.	.	.	.	G	42	9.497940	0.99187	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	.	.	.	4.76	1.95	0.26073	.	1.197450	0.06342	N	0.708192	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8836	0.35389	0.3566:0.0:0.6434:0.0	.	.	.	.	X	2629;2451;2125;2451;2451;2125	.	ENSP00000307959:S2451X	S	-	2	0	DST	56579400	0.000000	0.05858	0.003000	0.11579	0.106000	0.19336	0.136000	0.15974	-0.014000	0.14175	-1.842000	0.00583	TCA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56471441	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	nonsense	SNP	0.001	C
DTNA	1837	genome.wustl.edu	37	18	32374109	32374109	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:32374109C>G	ENST00000399113.3	+	3	257	c.257C>G	c.(256-258)tCc>tGc	p.S86C	DTNA_ENST00000283365.9_Missense_Mutation_p.S86C|DTNA_ENST00000554864.3_Missense_Mutation_p.S86C|DTNA_ENST00000315456.6_Missense_Mutation_p.S86C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000597599.1_Missense_Mutation_p.S86C|DTNA_ENST00000348997.5_Missense_Mutation_p.S86C|DTNA_ENST00000595022.1_Missense_Mutation_p.S86C|DTNA_ENST00000596745.1_Missense_Mutation_p.S86C|DTNA_ENST00000444659.1_Missense_Mutation_p.S86C|DTNA_ENST00000598142.1_Missense_Mutation_p.S86C|DTNA_ENST00000269190.7_Missense_Mutation_p.S86C|DTNA_ENST00000399121.5_Missense_Mutation_p.S86C|DTNA_ENST00000598774.1_Missense_Mutation_p.S86C|DTNA_ENST00000598334.1_Missense_Mutation_p.S86C|DTNA_ENST00000269191.6_Missense_Mutation_p.S86C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	86	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTGTGCTCTCCACTATTTTT	0.488																																																	0													236.0	181.0	200.0					18																	32374109		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.257C>G	18.37:g.32374109C>G	ENSP00000382064:p.Ser86Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.S86C	ENST00000399113.3	37	c.257	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330891	0.81690	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.43	5.43	0.79202	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.67569	2.06	0.80722	D	1	D;D;D;B;D;D;B;D;D;D;D;D	0.89917	0.99;1.0;1.0;0.136;1.0;1.0;0.431;1.0;1.0;1.0;0.994;1.0	D;D;D;B;D;D;B;D;D;D;D;D	0.91635	0.917;0.999;0.998;0.179;0.987;0.997;0.412;0.992;0.989;0.981;0.923;0.981	T	0.78677	-0.2111	10	0.56958	D	0.05	-15.4182	17.7791	0.88518	0.0:1.0:0.0:0.0	.	86;86;86;86;86;86;86;97;86;86;86;86	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	C	86	ENSP00000283365:S86C;ENSP00000322519:S86C;ENSP00000269190:S86C;ENSP00000336682:S86C;ENSP00000382072:S86C;ENSP00000405819:S86C;ENSP00000269191:S86C;ENSP00000382064:S86C	ENSP00000269190:S86C	S	+	2	0	DTNA	30628107	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.785000	0.85724	2.708000	0.92522	0.563000	0.77884	TCC	DTNA	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin		0.488	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32374109	+1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	1.000	G
DYNLL1	8655	genome.wustl.edu	37	12	120934235	120934235	+	Missense_Mutation	SNP	G	G	A	rs11544060		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:120934235G>A	ENST00000392509.2	+	2	272	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	DYNLL1_ENST00000549989.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000552870.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000550178.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000548214.1_Missense_Mutation_p.R4Q|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000392508.2_Missense_Mutation_p.R4Q|DYNLL1_ENST00000548342.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000242577.6_Missense_Mutation_p.R4Q|DYNLL1_ENST00000550845.1_Missense_Mutation_p.R4Q	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	4					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGCGACCGAAAGGCCGTG	0.607																																																	0													78.0	76.0	77.0					12																	120934235		2203	4300	6503	SO:0001583	missense	8655			U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.11G>A	12.37:g.120934235G>A	ENSP00000376297:p.Arg4Gln		Q15701	Missense_Mutation	SNP	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2	p.R4Q	ENST00000392509.2	37	c.11	CCDS9200.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967087	0.74131	.	.	ENSG00000088986	ENST00000392509;ENST00000549649;ENST00000548342;ENST00000242577;ENST00000548214;ENST00000392508;ENST00000550178;ENST00000550845;ENST00000549989;ENST00000552870	.	.	.	5.26	5.26	0.73747	.	0.109676	0.64402	N	0.000012	T	0.53642	0.1809	.	.	.	0.58432	D	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.45644	-0.9247	8	0.22706	T	0.39	.	19.298	0.94131	0.0:0.0:1.0:0.0	rs11544060	4	P63167	DYL1_HUMAN	Q	4	.	ENSP00000242577:R4Q	R	+	2	0	DYNLL1	119418618	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.476000	0.81055	2.637000	0.89404	0.555000	0.69702	CGA	DYNLL1	-	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2		0.607	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYNLL1	HGNC	protein_coding	OTTHUMT00000403709.1	G	NM_003746		120934235	+1	no_errors	ENST00000242577	ensembl	human	known	70_37	missense	SNP	1.000	A
DZIP3	9666	genome.wustl.edu	37	3	108366903	108366903	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:108366903G>T	ENST00000361582.3	+	16	2136	c.1906G>T	c.(1906-1908)Gat>Tat	p.D636Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.D636Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	636					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D636H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AATTAATAAAGATGGGACCTC	0.358																																																	1	Substitution - Missense(1)	breast(1)											102.0	109.0	106.0					3																	108366903		2203	4299	6502	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1906G>T	3.37:g.108366903G>T	ENSP00000355028:p.Asp636Tyr		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D636Y	ENST00000361582.3	37	c.1906	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009642	0.35415	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33438	1.41;1.41;1.41	5.25	4.33	0.51752	.	0.339361	0.25622	N	0.029406	T	0.38799	0.1054	L	0.36672	1.1	0.29801	N	0.832447	B;D;P	0.58620	0.392;0.983;0.769	B;P;B	0.58331	0.311;0.837;0.311	T	0.21793	-1.0235	10	0.87932	D	0	-9.2749	11.9031	0.52694	0.0:0.1745:0.8255:0.0	.	254;636;636	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	Y	636	ENSP00000355028:D636Y;ENSP00000418115:D636Y;ENSP00000419981:D636Y	ENSP00000355028:D636Y	D	+	1	0	DZIP3	109849593	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	2.735000	0.47377	2.730000	0.93505	0.644000	0.83932	GAT	DZIP3	-	NULL		0.358	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	G	NM_014648		108366903	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	0.999	T
ECI2	10455	genome.wustl.edu	37	6	4128056	4128056	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:4128056C>G	ENST00000380118.3	-	5	547	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	ECI2_ENST00000361538.2_Missense_Mutation_p.E141Q|ECI2_ENST00000413766.2_Missense_Mutation_p.E4Q|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.E141Q|ECI2_ENST00000465828.1_Missense_Mutation_p.E141Q|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	171	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CGCATAATTTCATGATACATC	0.378																																																	0													126.0	128.0	127.0					6																	4128056		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.511G>C	6.37:g.4128056C>G	ENSP00000369461:p.Glu171Gln		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.E171Q	ENST00000380118.3	37	c.511	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219820	0.58560	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;0.7	5.86	5.86	0.93980	Crotonase, core (1);	0.397452	0.31897	N	0.006896	T	0.78323	0.4265	M	0.76727	2.345	0.58432	D	0.999997	P	0.48089	0.905	P	0.47891	0.56	T	0.77270	-0.2650	10	0.36615	T	0.2	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	171	O75521	ECI2_HUMAN	Q	171;141;4;141;141;218	ENSP00000369461:E171Q;ENSP00000369468:E141Q;ENSP00000406969:E4Q;ENSP00000354737:E141Q;ENSP00000420309:E141Q;ENSP00000417459:E218Q	ENSP00000354737:E141Q	E	-	1	0	ECI2	4073055	1.000000	0.71417	0.116000	0.21606	0.301000	0.27625	6.454000	0.73493	2.776000	0.95493	0.655000	0.94253	GAA	ECI2	-	pfam_Crotonase_core		0.378	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	C	NM_006117		4128056	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	missense	SNP	0.997	G
ECM1	1893	genome.wustl.edu	37	1	150482469	150482469	+	Missense_Mutation	SNP	G	G	A	rs34875812		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:150482469G>A	ENST00000369047.4	+	4	420	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ECM1_ENST00000369049.4_Missense_Mutation_p.E126K|ECM1_ENST00000346569.6_Missense_Mutation_p.E99K|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	99					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACTCCCTGCTGAAAAGGAAGG	0.597																																					Melanoma(156;1696 2560 11093 19685)												0													100.0	99.0	99.0					1																	150482469		2203	4300	6503	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.295G>A	1.37:g.150482469G>A	ENSP00000358043:p.Glu99Lys		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.E126K	ENST00000369047.4	37	c.376	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030748	0.19512	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.75367	-0.93;-0.93;-0.93	4.34	1.4	0.22301	.	2.324170	0.01512	N	0.017972	T	0.44685	0.1305	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B	0.17852	0.023;0.019;0.024;0.013;0.002;0.001	B;B;B;B;B;B	0.17433	0.018;0.007;0.007;0.008;0.002;0.008	T	0.08534	-1.0717	10	0.29301	T	0.29	2.6266	4.5239	0.11973	0.2046:0.1837:0.6117:0.0	.	21;28;126;99;99;99	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	K	126;99;99	ENSP00000358045:E126K;ENSP00000358043:E99K;ENSP00000271630:E99K	ENSP00000271630:E99K	E	+	1	0	ECM1	148749093	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.242000	0.18087	0.209000	0.20645	-0.391000	0.06502	GAA	ECM1	-	pfam_ECM1		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	G	NM_004425		150482469	+1	no_errors	ENST00000369049	ensembl	human	known	70_37	missense	SNP	0.000	A
EEF2K	29904	genome.wustl.edu	37	16	22237288	22237288	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:22237288C>T	ENST00000263026.5	+	2	712	c.238C>T	c.(238-240)Cac>Tac	p.H80Y		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	80					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAACTCCTTCCACTTCAAGGT	0.507																																					NSCLC(195;1411 2157 20319 27471 51856)												0													62.0	59.0	60.0					16																	22237288		2197	4300	6497	SO:0001583	missense	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.238C>T	16.37:g.22237288C>T	ENSP00000263026:p.His80Tyr		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.H80Y	ENST00000263026.5	37	c.238	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990165	0.18966	.	.	ENSG00000103319	ENST00000263026	T	0.06068	3.35	5.79	4.82	0.62117	Protein kinase-like domain (1);	0.542979	0.20306	N	0.094935	T	0.04543	0.0124	L	0.36672	1.1	0.34416	D	0.696903	P	0.34934	0.476	B	0.24974	0.057	T	0.07443	-1.0772	10	0.02654	T	1	-7.4598	13.2478	0.60033	0.4793:0.5207:0.0:0.0	.	80	O00418	EF2K_HUMAN	Y	80	ENSP00000263026:H80Y	ENSP00000263026:H80Y	H	+	1	0	EEF2K	22144789	1.000000	0.71417	0.992000	0.48379	0.150000	0.21749	2.153000	0.42282	1.368000	0.46115	0.650000	0.86243	CAC	EEF2K	-	superfamily_Kinase-like_dom,pirsf_Elongation_factor_2_kinase		0.507	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	C	NM_013302		22237288	+1	no_errors	ENST00000263026	ensembl	human	known	70_37	missense	SNP	0.996	T
EGR4	1961	genome.wustl.edu	37	2	73520479	73520479	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:73520479C>T	ENST00000545030.1	-	1	350	c.276G>A	c.(274-276)gcG>gcA	p.A92A	EGR4_ENST00000436467.2_5'UTR	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	92					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGGGGCCTCGCCCGCTGGG	0.736																																																	0													5.0	6.0	6.0					2																	73520479		2048	3977	6025	SO:0001819	synonymous_variant	1961				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.276G>A	2.37:g.73520479C>T			B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A92	ENST00000545030.1	37	c.276	CCDS1925.2	2																																																																																			EGR4	-	NULL		0.736	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding		C	NM_001965		73520479	-1	no_errors	ENST00000545030	ensembl	human	known	70_37	silent	SNP	0.331	T
EIF4B	1975	genome.wustl.edu	37	12	53431271	53431271	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:53431271C>G	ENST00000262056.9	+	11	1711	c.1385C>G	c.(1384-1386)tCt>tGt	p.S462C	RP11-983P16.4_ENST00000550601.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.S467C|RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S423C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	462					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCTCCAACTTCTAAACCTCCC	0.473																																																	0													19.0	19.0	19.0					12																	53431271		1809	4044	5853	SO:0001583	missense	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1385C>G	12.37:g.53431271C>G	ENSP00000262056:p.Ser462Cys		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S462C	ENST00000262056.9	37	c.1385	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510189	0.64522	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T;T	0.55588	0.51;0.82;0.51	5.2	5.2	0.72013	.	0.211367	0.40222	N	0.001146	T	0.57257	0.2041	M	0.71581	2.175	0.58432	D	0.999999	B;B;B;B	0.33044	0.395;0.143;0.003;0.275	B;B;B;B	0.36134	0.218;0.03;0.005;0.108	T	0.61845	-0.6979	10	0.66056	D	0.02	.	17.0418	0.86491	0.0:1.0:0.0:0.0	.	423;467;438;462	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	462;467;438;423	ENSP00000262056:S462C;ENSP00000388806:S467C;ENSP00000412530:S423C	ENSP00000262056:S462C	S	+	2	0	EIF4B	51717538	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.993000	0.63895	2.810000	0.96702	0.585000	0.79938	TCT	EIF4B	-	NULL		0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	C	NM_001417		53431271	+1	no_errors	ENST00000262056	ensembl	human	known	70_37	missense	SNP	1.000	G
EML6	400954	genome.wustl.edu	37	2	55130286	55130286	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:55130286C>G	ENST00000356458.6	+	22	3750	c.3230C>G	c.(3229-3231)tCt>tGt	p.S1077C		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1077						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						GACATGGTCTCTTTCCATCAC	0.408																																																	0													119.0	106.0	110.0					2																	55130286		692	1591	2283	SO:0001583	missense	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.3230C>G	2.37:g.55130286C>G	ENSP00000348842:p.Ser1077Cys		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1077C	ENST00000356458.6	37	c.3230	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931683	0.73442	.	.	ENSG00000214595	ENST00000356458	T	0.05513	3.43	5.58	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.125201	0.31624	U	0.007327	T	0.17492	0.0420	L	0.60455	1.87	0.40907	D	0.984209	D	0.63046	0.992	P	0.58077	0.832	T	0.00745	-1.1584	10	0.62326	D	0.03	.	14.4449	0.67342	0.0:0.9294:0.0:0.0706	.	1077	Q6ZMW3	EMAL6_HUMAN	C	1077	ENSP00000348842:S1077C	ENSP00000348842:S1077C	S	+	2	0	EML6	54983790	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.844000	0.62846	1.367000	0.46095	0.655000	0.94253	TCT	EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.408	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	C	XM_001725002		55130286	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	missense	SNP	1.000	G
ENAH	55740	genome.wustl.edu	37	1	225707234	225707234	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:225707234C>T	ENST00000366844.3	-	5	919	c.468G>A	c.(466-468)ctG>ctA	p.L156L	ENAH_ENST00000284563.6_Silent_p.L175L|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Silent_p.L156L	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	156	9 X 5 AA tandem repeats of [LMQ]-E-[QR]- E-[QR].				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		tttcccgctccagctcctttt	0.433																																																	0													54.0	53.0	54.0					1																	225707234		2202	4300	6502	SO:0001819	synonymous_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.468G>A	1.37:g.225707234C>T			D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.L156	ENST00000366844.3	37	c.468	CCDS31041.1	1																																																																																			ENAH	-	NULL		0.433	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225707234	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	silent	SNP	1.000	T
NODAL	4838	genome.wustl.edu	37	10	72195234	72195234	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:72195234C>T	ENST00000287139.3	-	2	698	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AC022532.1_ENST00000420338.2_Missense_Mutation_p.L61F	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	233					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GACGGTGCCTCTTGCCCCACT	0.612																																																	0													85.0	78.0	80.0					10																	72195234		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.699G>A	10.37:g.72195234C>T			Q2M3A5|Q8N4V3	Missense_Mutation	SNP	NULL	p.L61F	ENST00000287139.3	37	c.181	CCDS7304.1	10	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925011	0.34002	.	.	ENSG00000197604	ENST00000420338	.	.	.	5.56	2.6	0.31112	.	.	.	.	.	T	0.65821	0.2728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65660	-0.6114	5	0.87932	D	0	.	9.6399	0.39833	0.0:0.6565:0.2683:0.0752	.	.	.	.	F	61	.	ENSP00000411125:L61F	L	+	1	0	AC022532.1	71865240	0.082000	0.21442	0.325000	0.25375	0.546000	0.35178	0.623000	0.24447	0.350000	0.24002	-0.165000	0.13383	CTT	AC022532.1	-	NULL		0.612	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000197604	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000048511.1	C	NM_018055		72195234	+1	no_errors	ENST00000420338	ensembl	human	known	70_37	missense	SNP	0.988	T
CXorf40A	91966	genome.wustl.edu	37	X	148629903	148629903	+	IGR	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:148629903C>G	ENST00000441248.1	+	0	2411				RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000514208.1_Intron|CXorf40A_ENST00000434353.2_Intron|CXorf40A_ENST00000422892.2_Intron			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A											breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGAACTGTTCACAGAGTCTA	0.433																																																	0																																										SO:0001628	intergenic_variant	0			AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622		X.37:g.148629903C>G			A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	RNA	SNP	-	NULL	ENST00000441248.1	37	NULL	CCDS14687.1	X																																																																																			RP5-937E21.8	-	-		0.433	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225261	Clone_based_vega_gene	protein_coding	OTTHUMT00000058699.3	C	NM_178124		148629903	-1	no_errors	ENST00000431993	ensembl	human	known	70_37	rna	SNP	0.070	G
ANKRD19P	138649	genome.wustl.edu	37	9	95644873	95644873	+	RNA	SNP	A	A	T	rs2296059	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95644873A>T	ENST00000446878.1	+	0	0				ANKRD19P_ENST00000473204.1_RNA																							AAAGCAATGCACCTATTCACA	0.532																																																	0																																												0																															9.37:g.95644873A>T				RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-		0.532	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	A			95644873	+1	no_errors	ENST00000411450	ensembl	human	known	70_37	rna	SNP	0.002	T
SV2C	22987	genome.wustl.edu	37	5	75469560	75469560	+	Intron	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:75469560G>C	ENST00000502798.2	+	3	1022				SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATTTATTTTTGATTTTGCAGA	0.388																																																	0													171.0	182.0	178.0					5																	75469560		2203	4300	6503	SO:0001627	intron_variant	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.581-21184G>C	5.37:g.75469560G>C			Q496K1|Q9UPU8	RNA	SNP	-	NULL	ENST00000502798.2	37	NULL	CCDS43331.1	5																																																																																			RP11-466P24.2	-	-		0.388	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254893	Clone_based_vega_gene	protein_coding	OTTHUMT00000368700.4	G			75469560	-1	no_errors	ENST00000527880	ensembl	human	known	70_37	rna	SNP	1.000	C
CLPB	81570	genome.wustl.edu	37	11	72013338	72013338	+	Intron	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:72013338C>T	ENST00000294053.3	-	11	1431				CLPB_ENST00000538021.1_Intron|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000437826.2_Intron|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000340729.5_Intron|CLPB_ENST00000538039.1_Intron	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)						cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CAAGGACTGTCATCACTCACC	0.527																																																	0													147.0	108.0	121.0					11																	72013338		2200	4293	6493	SO:0001627	intron_variant	0			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1257+9G>A	11.37:g.72013338C>T			B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	RNA	SNP	-	NULL	ENST00000294053.3	37	NULL	CCDS8215.1	11																																																																																			AP000593.7	-	-		0.527	CLPB-001	KNOWN	basic|CCDS	protein_coding	ENSG00000255843	Clone_based_vega_gene	protein_coding	OTTHUMT00000396889.1	C	NM_030813		72013338	+1	no_errors	ENST00000546065	ensembl	human	known	70_37	rna	SNP	0.636	T
EPN2	22905	genome.wustl.edu	37	17	19238692	19238692	+	3'UTR	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:19238692C>G	ENST00000314728.5	+	0	3535				EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_3'UTR|RP11-135L13.4_ENST00000581122.1_RNA	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2						embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAATTTTTATCAACTAATTCC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.*1125C>G	17.37:g.19238692C>G			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	RNA	SNP	-	NULL	ENST00000314728.5	37	NULL	CCDS11203.1	17																																																																																			RP11-135L13.4	-	-		0.323	EPN2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000265263	Clone_based_vega_gene	protein_coding	OTTHUMT00000132283.3	C	NM_014964		19238692	-1	no_errors	ENST00000581122	ensembl	human	known	70_37	rna	SNP	1.000	G
EPB41L3	23136	genome.wustl.edu	37	18	5394771	5394771	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:5394771C>G	ENST00000341928.2	-	22	3515	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q	EPB41L3_ENST00000427684.2_Missense_Mutation_p.E356Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E364Q|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E837Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E837Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E1059Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1059	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTTTGGCCTCTTTAATTGCC	0.493																																																	0													190.0	159.0	169.0					18																	5394771		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3175G>C	18.37:g.5394771C>G	ENSP00000343158:p.Glu1059Gln		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E1059Q	ENST00000341928.2	37	c.3175	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.263853	0.95399	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.82	5.82	0.92795	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.996;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.999;0.997;0.998;0.952;0.999;0.998	D	0.94488	0.7699	10	0.72032	D	0.01	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	356;364;451;728;837;1059;294	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	Q	1059;728;728;356;364;1059;837	ENSP00000343158:E1059Q;ENSP00000392195:E356Q;ENSP00000442233:E364Q;ENSP00000341138:E1059Q;ENSP00000382981:E837Q	ENSP00000343158:E1059Q	E	-	1	0	EPB41L3	5384771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.767000	0.95098	0.655000	0.94253	GAG	EPB41L3	-	pirsf_Band_41_protein,pfam_Band_4.1_C		0.493	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	C	NM_012307		5394771	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	1.000	G
ERCC4	2072	genome.wustl.edu	37	16	14041676	14041676	+	Silent	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:14041676C>G	ENST00000311895.7	+	11	2232	c.2223C>G	c.(2221-2223)ctC>ctG	p.L741L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	741	ERCC4.|Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACGGCCGCCTCTACAGCCAGT	0.507			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													87.0	86.0	86.0					16																	14041676		2197	4300	6497	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2223C>G	16.37:g.14041676C>G			A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.L741	ENST00000311895.7	37	c.2223	CCDS32390.1	16																																																																																			ERCC4	-	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain,tigrfam_Rad1		0.507	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	C	NM_005236		14041676	+1	no_errors	ENST00000311895	ensembl	human	known	70_37	silent	SNP	0.109	G
ERGIC1	57222	genome.wustl.edu	37	5	172341859	172341859	+	Intron	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:172341859C>T	ENST00000393784.3	+	5	514				ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000326654.2_Silent_p.L86L	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCCCTGCCTCAGCCCTTTCT	0.597																																																	0													71.0	65.0	67.0					5																	172341859		2203	4300	6503	SO:0001627	intron_variant	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.375+18C>T	5.37:g.172341859C>T			Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	NULL	p.L86	ENST00000393784.3	37	c.258	CCDS34292.1	5																																																																																			ERGIC1	-	NULL		0.597	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	C	NM_020462		172341859	+1	no_errors	ENST00000326654	ensembl	human	putative	70_37	silent	SNP	0.000	T
FAM154B	283726	genome.wustl.edu	37	15	82574786	82574786	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:82574786G>C	ENST00000339465.5	+	3	649	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q	FAM154B_ENST00000427381.2_Missense_Mutation_p.E179Q|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	194										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTCATTGGTGAAACTGCAAA	0.443																																																	0													57.0	54.0	55.0					15																	82574786		2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.580G>C	15.37:g.82574786G>C	ENSP00000340445:p.Glu194Gln		B4E2M2	Missense_Mutation	SNP	NULL	p.E194Q	ENST00000339465.5	37	c.580	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417476	0.25552	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18657	2.2;2.2	3.9	2.92	0.33932	.	0.454285	0.20343	N	0.094195	T	0.25306	0.0615	L	0.58101	1.795	0.24104	N	0.995869	P;P	0.44090	0.826;0.683	P;B	0.44359	0.447;0.209	T	0.07597	-1.0764	10	0.29301	T	0.29	-13.9202	13.4321	0.61062	0.0:0.299:0.701:0.0	.	179;194	B4E2M2;Q658L1	.;F154B_HUMAN	Q	194;179	ENSP00000340445:E194Q;ENSP00000403743:E179Q	ENSP00000340445:E194Q	E	+	1	0	FAM154B	80361841	0.973000	0.33851	0.524000	0.27887	0.682000	0.39822	1.787000	0.38704	0.900000	0.36469	0.536000	0.68110	GAA	FAM154B	-	NULL		0.443	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	G	NM_001008226		82574786	+1	no_errors	ENST00000339465	ensembl	human	known	70_37	missense	SNP	0.517	C
FAM198A	729085	genome.wustl.edu	37	3	43074915	43074915	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:43074915C>G	ENST00000430121.2	+	2	1255	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	387						extracellular region (GO:0005576)				endometrium(1)	1						GATCAGAACTCTCTGGCCTTG	0.647																																																	0													36.0	37.0	36.0					3																	43074915		692	1591	2283	SO:0001583	missense	729085			AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.1160C>G	3.37:g.43074915C>G	ENSP00000407301:p.Ser387Cys		B3KR48	Missense_Mutation	SNP	NULL	p.S387C	ENST00000430121.2	37	c.1160	CCDS46808.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624519	0.87560	.	.	ENSG00000144649	ENST00000430121	T	0.37584	1.19	5.22	5.22	0.72569	.	0.122801	0.56097	D	0.000024	T	0.64483	0.2602	M	0.82823	2.61	0.51012	D	0.999907	D	0.89917	1.0	D	0.78314	0.991	T	0.67217	-0.5726	9	.	.	.	-0.1676	18.1874	0.89796	0.0:1.0:0.0:0.0	.	387	Q9UFP1	F198A_HUMAN	C	387	ENSP00000407301:S387C	.	S	+	2	0	FAM198A	43049919	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.525000	0.81892	2.617000	0.88574	0.650000	0.86243	TCT	FAM198A	-	NULL		0.647	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM198A	HGNC	protein_coding	OTTHUMT00000344240.3	C	NM_001129908		43074915	+1	no_errors	ENST00000273146	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM205A	259308	genome.wustl.edu	37	9	34724748	34724748	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:34724748G>A	ENST00000378788.3	-	4	2528	c.2489C>T	c.(2488-2490)tCa>tTa	p.S830L		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	830						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						TTCTTCAAATGAAACCATCTG	0.517																																																	0													47.0	37.0	40.0					9																	34724748		692	1591	2283	SO:0001583	missense	259308				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.2489C>T	9.37:g.34724748G>A	ENSP00000417711:p.Ser830Leu		A8MVW7	Missense_Mutation	SNP	NULL	p.S830L	ENST00000378788.3	37	c.2489	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701973	0.48307	.	.	ENSG00000205108	ENST00000378788	T	0.55234	0.53	4.7	1.6	0.23607	.	.	.	.	.	T	0.52435	0.1734	L	0.44542	1.39	0.09310	N	1	D	0.60575	0.988	P	0.58721	0.844	T	0.38134	-0.9675	9	0.45353	T	0.12	.	2.7663	0.05321	0.1046:0.1771:0.536:0.1822	.	830	Q6ZU69	F205A_HUMAN	L	830	ENSP00000417711:S830L	ENSP00000417711:S830L	S	-	2	0	RP11-195F19.10	34714748	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.737000	0.26144	1.095000	0.41419	0.650000	0.86243	TCA	FAM205A	-	NULL		0.517	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	G	NM_001141917		34724748	-1	no_errors	ENST00000378788	ensembl	human	novel	70_37	missense	SNP	0.000	A
FBXO42	54455	genome.wustl.edu	37	1	16577965	16577965	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:16577965C>G	ENST00000375592.3	-	10	1570	c.1354G>C	c.(1354-1356)Ggt>Cgt	p.G452R		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	452										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAAGAGCCACCCACAGCTGCC	0.557																																																	0													25.0	30.0	28.0					1																	16577965		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1354G>C	1.37:g.16577965C>G	ENSP00000364742:p.Gly452Arg		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.G452R	ENST00000375592.3	37	c.1354	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901207	0.33535	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.47177	3.86;0.85;0.85	5.51	3.65	0.41850	.	0.261873	0.33610	N	0.004731	T	0.32496	0.0831	N	0.08118	0	0.44388	D	0.997298	P	0.47841	0.901	P	0.50314	0.637	T	0.04165	-1.0972	10	0.15066	T	0.55	-8.5296	9.7133	0.40258	0.0:0.8381:0.0:0.1619	.	452	Q6P3S6	FBX42_HUMAN	R	452;170;170	ENSP00000364742:G452R;ENSP00000415663:G170R;ENSP00000412416:G170R	ENSP00000364742:G452R	G	-	1	0	FBXO42	16450552	0.802000	0.28943	0.326000	0.25389	0.596000	0.36781	2.417000	0.44653	0.827000	0.34685	-0.145000	0.13849	GGT	FBXO42	-	NULL		0.557	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	C			16577965	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	0.810	G
FCRLB	127943	genome.wustl.edu	37	1	161697042	161697042	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:161697042C>A	ENST00000367948.2	+	8	1086	c.871C>A	c.(871-873)Ccc>Acc	p.P291T	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_Missense_Mutation_p.S249Y|FCRLB_ENST00000367945.1_Silent_p.L235L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P291T|FCRLB_ENST00000336830.5_Missense_Mutation_p.S256Y|FCRLB_ENST00000367946.3_Silent_p.L242L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	291					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CACAGGTTCTCCCCTGGACCC	0.672																																																	0													23.0	27.0	25.0					1																	161697042		2202	4299	6501	SO:0001583	missense	127943			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.871C>A	1.37:g.161697042C>A	ENSP00000356925:p.Pro291Thr		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.P291T	ENST00000367948.2	37	c.871	CCDS30927.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.821|5.821	0.335798|0.335798	0.11013|0.11013	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367948;ENST00000392158|ENST00000336830;ENST00000367944	D;D|T;T	0.96651|0.02301	-4.08;-4.08|4.35;4.37	3.92|3.92	-2.55|-2.55	0.06288|0.06288	.|.	1.496250|.	0.04521|.	N|.	0.384554|.	T|T	0.00906|0.00906	0.0030|0.0030	M|M	0.64080|0.64080	1.96|1.96	0.09310|0.09310	N|N	1|1	B|P;B;B	0.19817|0.41080	0.039|0.737;0.019;0.019	B|B;B;B	0.10450|0.38500	0.005|0.275;0.016;0.016	T|T	0.42068|0.42068	-0.9473|-0.9473	10|9	0.21540|0.87932	T|D	0.41|0	.|.	1.4774|1.4774	0.02429|0.02429	0.1439:0.2493:0.3801:0.2267|0.1439:0.2493:0.3801:0.2267	.|.	291|293;249;256	Q6BAA4|Q96DP6;Q6BAA4-3;Q6BAA4-2	FCRLB_HUMAN|.;.;.	T|Y	291|256;249	ENSP00000356925:P291T;ENSP00000375999:P291T|ENSP00000338598:S256Y;ENSP00000356921:S249Y	ENSP00000356925:P291T|ENSP00000338598:S256Y	P|S	+|+	1|2	0|0	FCRLB|FCRLB	159963666|159963666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.181000|0.181000	0.23173|0.23173	-0.382000|-0.382000	0.07408|0.07408	-0.349000|-0.349000	0.08274|0.08274	0.455000|0.455000	0.32223|0.32223	CCC|TCC	FCRLB	-	NULL		0.672	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRLB	HGNC	protein_coding	OTTHUMT00000083585.1	C	NM_152378		161697042	+1	no_errors	ENST00000367948	ensembl	human	known	70_37	missense	SNP	0.000	A
FEM1A	55527	genome.wustl.edu	37	19	4792590	4792590	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:4792590G>C	ENST00000269856.3	+	1	863	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	242					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCCGGCCAGGAGCAGGTCGC	0.692																																																	0													25.0	30.0	28.0					19																	4792590		2192	4280	6472	SO:0001583	missense	55527			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.724G>C	19.37:g.4792590G>C	ENSP00000269856:p.Glu242Gln		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E242Q	ENST00000269856.3	37	c.724	CCDS12135.1	19	.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097177	0.07010	.	.	ENSG00000141965	ENST00000269856	T	0.67698	-0.28	4.83	2.56	0.30785	.	1.276180	0.06191	U	0.681363	T	0.63965	0.2556	L	0.47190	1.495	0.22571	N	0.998971	B	0.26195	0.144	B	0.27380	0.079	T	0.55140	-0.8187	10	0.56958	D	0.05	-1.0878	12.3145	0.54948	0.0:0.3261:0.6739:0.0	.	242	Q9BSK4	FEM1A_HUMAN	Q	242	ENSP00000269856:E242Q	ENSP00000269856:E242Q	E	+	1	0	FEM1A	4743590	0.025000	0.19082	0.014000	0.15608	0.089000	0.18198	0.636000	0.24644	0.392000	0.25172	0.484000	0.47621	GAG	FEM1A	-	smart_Ankyrin_rpt		0.692	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1	G			4792590	+1	no_errors	ENST00000269856	ensembl	human	known	70_37	missense	SNP	0.362	C
FEZ1	9638	genome.wustl.edu	37	11	125333410	125333410	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:125333410G>C	ENST00000278919.3	-	4	702	c.468C>G	c.(466-468)atC>atG	p.I156M	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	156					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCTCCTCGTTGATACCGGAAT	0.458																																					Melanoma(180;509 2033 10762 15939 24711)												0													180.0	163.0	169.0					11																	125333410		2201	4299	6500	SO:0001583	missense	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.468C>G	11.37:g.125333410G>C	ENSP00000278919:p.Ile156Met		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.I156M	ENST00000278919.3	37	c.468	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274940	0.59649	.	.	ENSG00000149557	ENST00000278919	T	0.45668	0.89	4.9	3.76	0.43208	.	0.066225	0.64402	D	0.000013	T	0.45337	0.1337	L	0.55481	1.735	0.80722	D	1	P	0.49307	0.922	P	0.49953	0.627	T	0.46205	-0.9208	10	0.66056	D	0.02	-11.1468	9.5716	0.39431	0.1875:0.0:0.8125:0.0	.	156	Q99689	FEZ1_HUMAN	M	156	ENSP00000278919:I156M	ENSP00000278919:I156M	I	-	3	3	FEZ1	124838620	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.870000	0.39529	2.254000	0.74563	0.561000	0.74099	ATC	FEZ1	-	pfam_FEZ		0.458	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	G	NM_005103		125333410	-1	no_errors	ENST00000278919	ensembl	human	known	70_37	missense	SNP	1.000	C
FLII	2314	genome.wustl.edu	37	17	18160237	18160237	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:18160237C>T	ENST00000327031.4	-	2	385	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	FLII_ENST00000584444.1_5'UTR|FLII_ENST00000545457.2_Missense_Mutation_p.A54T|FLII_ENST00000579294.1_Missense_Mutation_p.A43T|FLII_ENST00000379450.4_Missense_Mutation_p.A23T|FLII_ENST00000578558.1_Missense_Mutation_p.A54T	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	54	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCTGCAGGGCGGCCAGCTCC	0.647																																																	0													20.0	20.0	20.0					17																	18160237		2200	4299	6499	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.160G>A	17.37:g.18160237C>T	ENSP00000324573:p.Ala54Thr		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.A54T	ENST00000327031.4	37	c.160	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737477	0.30774	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.36699	1.24;1.87;1.85	5.12	3.08	0.35506	.	0.108255	0.64402	D	0.000006	T	0.22781	0.0550	L	0.29908	0.895	0.31932	N	0.612052	B;B;B;B	0.30889	0.1;0.1;0.299;0.054	B;B;B;B	0.21151	0.033;0.033;0.024;0.03	T	0.17592	-1.0364	10	0.15499	T	0.54	-14.2014	13.4174	0.60976	0.5402:0.4597:0.0:0.0	.	23;23;54;54	E7EPM0;B4DIL0;F5H407;Q13045	.;.;.;FLII_HUMAN	T	54;54;23	ENSP00000324573:A54T;ENSP00000438536:A54T;ENSP00000368763:A23T	ENSP00000324573:A54T	A	-	1	0	FLII	18100962	0.912000	0.30974	0.783000	0.31826	0.979000	0.70002	1.873000	0.39558	0.519000	0.28406	0.511000	0.50034	GCC	FLII	-	NULL		0.647	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	C	NM_002018		18160237	-1	no_errors	ENST00000327031	ensembl	human	known	70_37	missense	SNP	0.531	T
FOXA2	3170	genome.wustl.edu	37	20	22563211	22563211	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:22563211G>A	ENST00000377115.4	-	3	832	c.651C>T	c.(649-651)ttC>ttT	p.F217F	FOXA2_ENST00000419308.2_Silent_p.F223F	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	217					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F217L(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCACCTTCAGGAAACAGTCGT	0.617																																																	1	Substitution - Missense(1)	endometrium(1)											45.0	49.0	48.0					20																	22563211		2203	4300	6503	SO:0001819	synonymous_variant	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.651C>T	20.37:g.22563211G>A			Q8WUW4|Q96DF7	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F223	ENST00000377115.4	37	c.669	CCDS13147.1	20																																																																																			FOXA2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	G			22563211	-1	no_errors	ENST00000319993	ensembl	human	known	70_37	silent	SNP	1.000	A
FOXG1	2290	genome.wustl.edu	37	14	29237007	29237007	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:29237007G>A	ENST00000313071.4	+	1	721	c.522G>A	c.(520-522)aaG>aaA	p.K174K	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.K174K	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	174	Gly-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agggcgagaagaagAACGGCA	0.682																																																	0													27.0	29.0	29.0					14																	29237007		2203	4300	6503	SO:0001819	synonymous_variant	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.522G>A	14.37:g.29237007G>A			A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K174	ENST00000313071.4	37	c.522	CCDS9636.1	14																																																																																			FOXG1	-	NULL		0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	G			29237007	+1	no_errors	ENST00000313071	ensembl	human	known	70_37	silent	SNP	1.000	A
FRMPD2	143162	genome.wustl.edu	37	10	49392824	49392824	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:49392824G>C	ENST00000374201.3	-	19	2762	c.2460C>G	c.(2458-2460)atC>atG	p.I820M	FRMPD2_ENST00000407470.4_Missense_Mutation_p.I788M|FRMPD2_ENST00000305531.3_Missense_Mutation_p.I795M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	820	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACCTGGTTTGATCGTTTTTG	0.348																																																	0													91.0	87.0	88.0					10																	49392824		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2460C>G	10.37:g.49392824G>C	ENSP00000363317:p.Ile820Met		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I820M	ENST00000374201.3	37	c.2460	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	.	11.46	1.644683	0.29246	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39997	1.05;1.05;1.05	5.1	1.04	0.20106	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.55657	0.1934	M	0.68593	2.085	0.30621	N	0.758489	P;D;P	0.67145	0.875;0.996;0.875	B;D;B	0.70716	0.243;0.97;0.243	T	0.54669	-0.8259	9	0.87932	D	0	.	6.1457	0.20285	0.2369:0.1368:0.6263:0.0	.	795;820;788	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	M	820;795;788	ENSP00000363317:I820M;ENSP00000307079:I795M;ENSP00000384339:I788M	ENSP00000307079:I795M	I	-	3	3	FRMPD2	49062830	1.000000	0.71417	0.941000	0.38009	0.167000	0.22549	2.104000	0.41815	0.260000	0.21731	-0.768000	0.03414	ATC	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.348	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	G	NM_152428		49392824	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.997	C
GAK	2580	genome.wustl.edu	37	4	887749	887749	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:887749C>T	ENST00000314167.4	-	8	900	c.790G>A	c.(790-792)Gag>Aag	p.E264K	GAK_ENST00000511163.1_Missense_Mutation_p.E185K	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCTCCATCCTCAAAAGGGTGC	0.617																																																	0													87.0	59.0	68.0					4																	887749		2202	4295	6497	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.790G>A	4.37:g.887749C>T	ENSP00000314499:p.Glu264Lys		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.E264K	ENST00000314167.4	37	c.790	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.950079	0.97139	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.64803	-0.12;-0.12	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049985	0.85682	D	0.000000	T	0.69833	0.3155	L	0.31207	0.915	0.80722	D	1	D;P;D;D	0.89917	1.0;0.898;1.0;1.0	D;D;D;D	0.97110	1.0;0.914;1.0;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-30.5413	15.7059	0.77580	0.0:1.0:0.0:0.0	.	185;185;264;160	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	K	264;185	ENSP00000314499:E264K;ENSP00000421361:E185K	ENSP00000314499:E264K	E	-	1	0	GAK	877749	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.158000	0.64917	2.291000	0.77112	0.563000	0.77884	GAG	GAK	-	pfam_Prot_kinase_cat_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_cat_dom		0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	C	NM_005255		887749	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	missense	SNP	1.000	T
GALM	130589	genome.wustl.edu	37	2	38893461	38893461	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:38893461C>G	ENST00000272252.5	+	1	410	c.158C>G	c.(157-159)tCg>tGg	p.S53W	AC074366.3_ENST00000446277.1_RNA|GALM_ENST00000410063.1_Missense_Mutation_p.S53W	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	53					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GGGAGAGCCTCGGACGTGGTG	0.612																																																	0													89.0	74.0	79.0					2																	38893461		2203	4300	6503	SO:0001583	missense	130589				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.158C>G	2.37:g.38893461C>G	ENSP00000272252:p.Ser53Trp		Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd	p.S53W	ENST00000272252.5	37	c.158	CCDS1797.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647217	0.87958	.	.	ENSG00000143891	ENST00000272252;ENST00000410063	T	0.46063	0.88	5.13	5.13	0.70059	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.297281	0.31847	N	0.006977	T	0.48409	0.1498	L	0.29908	0.895	0.47214	D	0.999354	D	0.67145	0.996	P	0.55713	0.782	T	0.51521	-0.8695	10	0.87932	D	0	-7.5426	18.3672	0.90396	0.0:1.0:0.0:0.0	.	53	Q96C23	GALM_HUMAN	W	53	ENSP00000272252:S53W	ENSP00000272252:S53W	S	+	2	0	GALM	38746965	0.024000	0.19004	0.998000	0.56505	0.955000	0.61496	2.004000	0.40854	2.660000	0.90430	0.655000	0.94253	TCG	GALM	-	pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd		0.612	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALM	HGNC	protein_coding	OTTHUMT00000219891.2	C	NM_138801		38893461	+1	no_errors	ENST00000272252	ensembl	human	known	70_37	missense	SNP	1.000	G
GAS2	2620	genome.wustl.edu	37	11	22770758	22770758	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:22770758C>T	ENST00000454584.2	+	6	871	c.566C>T	c.(565-567)tCa>tTa	p.S189L	GAS2_ENST00000278187.3_Missense_Mutation_p.S189L|GAS2_ENST00000433790.1_Missense_Mutation_p.S189L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	189					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCTTCTCCTTCATCAAAGTCT	0.398																																																	0													96.0	96.0	96.0					11																	22770758		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.566C>T	11.37:g.22770758C>T	ENSP00000401145:p.Ser189Leu		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S189L	ENST00000454584.2	37	c.566	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664453	0.29604	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T	0.45668	0.89;0.89;0.92;0.89	5.86	4.0	0.46444	.	0.641538	0.16309	N	0.220075	T	0.28764	0.0713	N	0.22421	0.69	0.35243	D	0.777956	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	9	.	.	.	-4.6776	12.6538	0.56776	0.0:0.8667:0.0:0.1333	.	189	O43903	GAS2_HUMAN	L	189	ENSP00000401145:S189L;ENSP00000278187:S189L;ENSP00000435946:S189L;ENSP00000396708:S189L	.	S	+	2	0	GAS2	22727334	0.998000	0.40836	0.998000	0.56505	0.962000	0.63368	4.046000	0.57376	0.940000	0.37473	0.650000	0.86243	TCA	GAS2	-	NULL		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	C	NM_177553		22770758	+1	no_errors	ENST00000278187	ensembl	human	known	70_37	missense	SNP	0.986	T
GCC1	79571	genome.wustl.edu	37	7	127222266	127222266	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:127222266G>A	ENST00000321407.2	-	2	2554	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	710					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTGGTCCCTGATGTTCTTTT	0.587																																																	0													226.0	218.0	220.0					7																	127222266		2203	4300	6503	SO:0001819	synonymous_variant	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2130C>T	7.37:g.127222266G>A			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.I710	ENST00000321407.2	37	c.2130	CCDS5796.1	7																																																																																			GCC1	-	superfamily_ARM-type_fold		0.587	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127222266	-1	no_errors	ENST00000321407	ensembl	human	known	70_37	silent	SNP	0.995	A
GCG	2641	genome.wustl.edu	37	2	163000611	163000611	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:163000611C>G	ENST00000418842.2	-	5	716	c.462G>C	c.(460-462)gaG>gaC	p.E154D	GCG_ENST00000375497.3_Missense_Mutation_p.E154D	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	154					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGGTGTTCATCTCATCAGAGA	0.398																																																	0													105.0	101.0	103.0					2																	163000611		1892	4132	6024	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.462G>C	2.37:g.163000611C>G	ENSP00000387662:p.Glu154Asp		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.E154D	ENST00000418842.2	37	c.462	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243133	0.10077	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.15718	2.4;2.4	5.75	3.97	0.46021	Glucagon/GIP/secretin/VIP (3);	0.079834	0.52532	D	0.000070	T	0.07324	0.0185	N	0.03238	-0.38	0.33775	D	0.623558	B	0.21225	0.053	B	0.22386	0.039	T	0.07462	-1.0771	10	0.87932	D	0	-15.9759	5.5735	0.17210	0.2434:0.5997:0.0:0.1569	.	154	P01275	GLUC_HUMAN	D	154	ENSP00000387662:E154D;ENSP00000364647:E154D	ENSP00000364647:E154D	E	-	3	2	GCG	162708857	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.696000	0.25541	0.789000	0.33779	0.650000	0.86243	GAG	GCG	-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP		0.398	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	C	NM_002054		163000611	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	G
GIPR	2696	genome.wustl.edu	37	19	46176166	46176166	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:46176166G>A	ENST00000590918.1	+	5	437	c.338G>A	c.(337-339)aGa>aAa	p.R113K	GIPR_ENST00000263281.3_Missense_Mutation_p.R113K|GIPR_ENST00000304207.8_Missense_Mutation_p.R77K|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	113					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGACTTTGGAGAGACCATACA	0.522																																																	0													117.0	100.0	105.0					19																	46176166		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.338G>A	19.37:g.46176166G>A	ENSP00000467494:p.Arg113Lys		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R113K	ENST00000590918.1	37	c.338	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118572	0.77323	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.62498	0.02;0.63	4.81	4.81	0.61882	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.53938	D	0.000043	T	0.70911	0.3278	L	0.47190	1.495	0.36676	D	0.878764	P;D;P	0.76494	0.712;0.999;0.733	P;D;B	0.80764	0.45;0.994;0.395	T	0.71896	-0.4454	10	0.30078	T	0.28	.	13.25	0.60045	0.0:0.0:1.0:0.0	.	77;113;113	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	K	113;77	ENSP00000263281:R113K;ENSP00000305321:R77K	ENSP00000263281:R113K	R	+	2	0	GIPR	50868006	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.528000	0.67129	2.504000	0.84457	0.561000	0.74099	AGA	GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom		0.522	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	G			46176166	+1	no_errors	ENST00000590918	ensembl	human	known	70_37	missense	SNP	1.000	A
GJA9	81025	genome.wustl.edu	37	1	39340620	39340620	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:39340620G>A	ENST00000360786.3	-	1	1403	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.S384F|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.S384F|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	384					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTGACCTCTAGAGTAGTAGTT	0.403																																																	0													196.0	185.0	189.0					1																	39340620		2203	4300	6503	SO:0001583	missense	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1151C>T	1.37:g.39340620G>A	ENSP00000354020:p.Ser384Phe		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S384F	ENST00000360786.3	37	c.1151	CCDS432.1	1	.	.	.	.	.	.	.	.	.	.	G	3.510	-0.099954	0.07010	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97870	-4.58;-4.45;-4.45	4.82	0.636	0.17729	.	3.162950	0.01476	N	0.016487	D	0.92899	0.7741	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.86841	0.2017	10	0.45353	T	0.12	.	6.1501	0.20306	0.2502:0.4288:0.3209:0.0	.	384	P57773	CXA9_HUMAN	F	384	ENSP00000406846:S384F;ENSP00000350415:S384F;ENSP00000354020:S384F	ENSP00000350415:S384F	S	-	2	0	GJA9	39113207	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	0.274000	0.18680	0.019000	0.15079	0.655000	0.94253	TCT	GJA9	-	NULL		0.403	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39340620	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	missense	SNP	0.000	A
GLTPD2	388323	genome.wustl.edu	37	17	4693081	4693081	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:4693081C>T	ENST00000331264.7	+	4	419	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	122						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GCTCCGTCTTCGCCTTCGCCA	0.687																																																	0													19.0	19.0	19.0					17																	4693081		2182	4252	6434	SO:0001819	synonymous_variant	388323			BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.366C>T	17.37:g.4693081C>T			A7E2T2	Silent	SNP	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom	p.F122	ENST00000331264.7	37	c.366	CCDS32534.1	17																																																																																			GLTPD2	-	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom		0.687	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTPD2	HGNC	protein_coding	OTTHUMT00000439781.1	C	NM_001014985		4693081	+1	no_errors	ENST00000331264	ensembl	human	known	70_37	silent	SNP	0.962	T
GNAT3	346562	genome.wustl.edu	37	7	80087990	80087990	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:80087990G>C	ENST00000398291.3	-	8	1155	c.1062C>G	c.(1060-1062)ttC>ttG	p.F354L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TAGTTGATTAGAAAAGCCCAC	0.348																																																	0													60.0	59.0	59.0					7																	80087990		1832	4073	5905	SO:0001583	missense	346562				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.1062C>G	7.37:g.80087990G>C	ENSP00000381339:p.Phe354Leu		A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.F354L	ENST00000398291.3	37	c.1062	CCDS47625.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061596	0.76187	.	.	ENSG00000214415	ENST00000398291	D	0.88818	-2.43	5.57	2.41	0.29592	.	0.000000	0.85682	U	0.000000	D	0.87939	0.6304	N	0.17872	0.535	0.58432	D	0.999992	D	0.71674	0.998	D	0.87578	0.998	D	0.84437	0.0580	9	.	.	.	.	10.387	0.44145	0.2493:0.0:0.7507:0.0	.	354	A8MTJ3	GNAT3_HUMAN	L	354	ENSP00000381339:F354L	.	F	-	3	2	GNAT3	79925926	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	2.020000	0.41010	0.636000	0.30508	0.650000	0.86243	TTC	GNAT3	-	prints_Gprotein_alpha_I		0.348	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT3	HGNC	protein_coding	OTTHUMT00000339909.3	G	XM_294370		80087990	-1	no_errors	ENST00000398291	ensembl	human	known	70_37	missense	SNP	1.000	C
GOLGA6B	55889	genome.wustl.edu	37	15	72954664	72954664	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:72954664C>T	ENST00000421285.3	+	11	919	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	307						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGCCAAACACCTGAGGCAGGA	0.542																																																	0													20.0	21.0	21.0					15																	72954664		1920	3774	5694	SO:0001819	synonymous_variant	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.919C>T	15.37:g.72954664C>T			A8MYY7	Silent	SNP	NULL	p.L307	ENST00000421285.3	37	c.919	CCDS10245.2	15																																																																																			GOLGA6B	-	NULL		0.542	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6B	HGNC	protein_coding	OTTHUMT00000257474.4	C	NM_018652		72954664	+1	no_errors	ENST00000421285	ensembl	human	known	70_37	silent	SNP	0.993	T
GPR142	350383	genome.wustl.edu	37	17	72365731	72365731	+	Intron	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:72365731G>A	ENST00000335666.4	+	2	406					NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142							cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGTGACCCAGGACTCAGGGCC	0.602																																																	0													36.0	30.0	32.0					17																	72365731		2113	4161	6274	SO:0001627	intron_variant	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.358+10G>A	17.37:g.72365731G>A			A4CYJ8|Q86SL3	Missense_Mutation	SNP	NULL	p.G123E	ENST00000335666.4	37	c.368	CCDS11698.1	17																																																																																			GPR142	-	NULL		0.602	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	G	NM_181790		72365731	+1	no_errors	ENST00000585308	ensembl	human	known	70_37	missense	SNP	0.062	A
GPR98	84059	genome.wustl.edu	37	5	90016875	90016875	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:90016875G>A	ENST00000405460.2	+	45	9843	c.9747G>A	c.(9745-9747)atG>atA	p.M3249I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3249					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTTGGCATGAGTATGTTTC	0.328																																																	0													133.0	128.0	130.0					5																	90016875		1888	4120	6008	SO:0001630	splice_region_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9748+1G>A	5.37:g.90016875G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.M3249I	ENST00000405460.2	37	c.9747	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358881	0.24598	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25749	1.78	5.85	4.08	0.47627	.	0.214682	0.56097	D	0.000025	T	0.19366	0.0465	L	0.46157	1.445	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.07347	-1.0777	10	0.24483	T	0.36	.	6.0227	0.19638	0.2222:0.2384:0.5393:0.0	.	3249;3249	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	3249	ENSP00000384582:M3249I	ENSP00000296619:M3249I	M	+	3	0	GPR98	90052631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.732000	0.38146	0.822000	0.34565	0.650000	0.86243	ATG	GPR98	-	NULL		0.328	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119	Missense_Mutation	90016875	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A
GRIN1	2902	genome.wustl.edu	37	9	140033986	140033986	+	Silent	SNP	C	C	T	rs201816843		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140033986C>T	ENST00000371561.3	+	1	1145	c.48C>T	c.(46-48)tcC>tcT	p.S16S	GRIN1_ENST00000371553.3_Silent_p.S16S|GRIN1_ENST00000371560.3_Silent_p.S16S|GRIN1_ENST00000350902.5_Silent_p.S16S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.S16S|GRIN1_ENST00000371559.4_Silent_p.S16S|GRIN1_ENST00000371555.4_Silent_p.S16S|GRIN1_ENST00000371546.4_Silent_p.S16S|GRIN1_ENST00000371550.4_Silent_p.S16S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	16					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTCCTGCTCCGTCGCCCGTG	0.716																																					NSCLC(113;717 1653 2089 20474 37618)												0													26.0	22.0	23.0					9																	140033986		2203	4298	6501	SO:0001819	synonymous_variant	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.48C>T	9.37:g.140033986C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S16	ENST00000371561.3	37	c.48	CCDS7031.1	9																																																																																			GRIN1	-	NULL		0.716	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	C	NM_007327		140033986	+1	no_errors	ENST00000371561	ensembl	human	known	70_37	silent	SNP	0.996	T
GSTM5	2949	genome.wustl.edu	37	1	110256232	110256232	+	Intron	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:110256232C>G	ENST00000256593.3	+	4	317				GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_Intron	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTGACCTCCTCCTTGGCTGGG	0.557																																																	0													470.0	320.0	371.0					1																	110256232		2203	4300	6503	SO:0001627	intron_variant	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.259+45C>G	1.37:g.110256232C>G			A8K0V8|Q6PD78	RNA	SNP	-	NULL	ENST00000256593.3	37	NULL	CCDS811.1	1																																																																																			GSTM5	-	-		0.557	GSTM5-001	KNOWN	basic|CCDS	protein_coding	GSTM5	HGNC	protein_coding	OTTHUMT00000032200.1	C	NM_000851		110256232	+1	no_errors	ENST00000492718	ensembl	human	known	70_37	rna	SNP	0.000	G
GTPBP10	85865	genome.wustl.edu	37	7	90012327	90012327	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:90012327A>G	ENST00000222511.6	+	9	901	c.835A>G	c.(835-837)Aaa>Gaa	p.K279E	GTPBP10_ENST00000257659.8_Missense_Mutation_p.K200E	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	279	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GGCAGTTAATAAAATGGACTT	0.338																																																	0													90.0	94.0	93.0					7																	90012327		2203	4300	6503	SO:0001583	missense	85865				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.835A>G	7.37:g.90012327A>G	ENSP00000222511:p.Lys279Glu		B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain	p.K279E	ENST00000222511.6	37	c.835	CCDS5617.1	7	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553585	0.86127	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.38401	1.14;1.14;1.14	5.72	5.72	0.89469	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.87290	0.2298	9	.	.	.	-7.1512	16.2852	0.82717	1.0:0.0:0.0:0.0	.	200;279	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	E	200;279;206	ENSP00000257659:K200E;ENSP00000222511:K279E;ENSP00000416596:K206E	.	K	+	1	0	GTPBP10	89850263	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.668000	0.91158	2.306000	0.77630	0.482000	0.46254	AAA	GTPBP10	-	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pirsf_GTP-bd_Obg/CgtA		0.338	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP10	HGNC	protein_coding	OTTHUMT00000059976.3	A	NM_033107		90012327	+1	no_errors	ENST00000222511	ensembl	human	known	70_37	missense	SNP	1.000	G
HAS1	3036	genome.wustl.edu	37	19	52222782	52222782	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:52222782G>A	ENST00000222115.1	-	2	413	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	HAS1_ENST00000601714.1_Missense_Mutation_p.R134W|HAS1_ENST00000594621.1_5'Flank|HAS1_ENST00000540069.2_Missense_Mutation_p.R126W	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	127					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACGCGCAGCCGCGCGCGCGGG	0.706																																					NSCLC(132;636 2450 45807 47979)												0													6.0	5.0	5.0					19																	52222782		1919	3708	5627	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.379C>T	19.37:g.52222782G>A	ENSP00000222115:p.Arg127Trp		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R127W	ENST00000222115.1	37	c.379	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396539	0.83011	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.60797	0.16;0.16	4.15	3.08	0.35506	.	0.207197	0.34435	N	0.003962	T	0.60064	0.2240	L	0.36672	1.1	0.33073	D	0.535688	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.59948	0.866;0.739;0.739	T	0.69624	-0.5095	10	0.72032	D	0.01	-22.3214	9.6479	0.39879	0.0:0.0:0.6256:0.3744	.	126;127;126	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	W	126;127	ENSP00000445021:R126W;ENSP00000222115:R127W	ENSP00000222115:R127W	R	-	1	2	HAS1	56914594	1.000000	0.71417	0.784000	0.31847	0.976000	0.68499	2.522000	0.45572	0.819000	0.34492	0.423000	0.28283	CGG	HAS1	-	NULL		0.706	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	G	NM_001523		52222782	-1	no_errors	ENST00000222115	ensembl	human	known	70_37	missense	SNP	0.927	A
HAUS2	55142	genome.wustl.edu	37	15	42858841	42858841	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:42858841G>C	ENST00000260372.3	+	6	598	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	RP11-265N6.2_ENST00000567089.1_RNA|RP11-265N6.2_ENST00000561902.1_RNA|HAUS2_ENST00000568876.1_Missense_Mutation_p.E148Q	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	179					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						ATTGGTGACTGAGACAGAAGA	0.343																																																	0													79.0	81.0	80.0					15																	42858841		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.535G>C	15.37:g.42858841G>C	ENSP00000260372:p.Glu179Gln		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E179Q	ENST00000260372.3	37	c.535	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771022	0.69992	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.45276	0.9	6.05	2.85	0.33270	.	0.220504	0.45126	D	0.000389	T	0.39200	0.1069	L	0.59436	1.845	0.33673	D	0.611194	P;P	0.45902	0.675;0.868	B;B	0.44044	0.344;0.439	T	0.51505	-0.8697	10	0.42905	T	0.14	.	7.7332	0.28799	0.3006:0.0:0.6994:0.0	.	148;179	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	Q	179;148	ENSP00000260372:E179Q	ENSP00000260372:E179Q	E	+	1	0	HAUS2	40646133	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.654000	0.37334	0.299000	0.22661	-0.136000	0.14681	GAG	HAUS2	-	NULL		0.343	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42858841	+1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	0.992	C
HAUS7	55559	genome.wustl.edu	37	X	152719932	152719932	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:152719932G>A	ENST00000370211.4	-	9	1038	c.995C>T	c.(994-996)tCt>tTt	p.S332F	TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.S391F|TREX2_ENST00000338525.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	332					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGCCTTCGCAGAGGTGTCAGC	0.642																																																	0													40.0	28.0	32.0					X																	152719932		2203	4299	6502	SO:0001583	missense	55559			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.995C>T	X.37:g.152719932G>A	ENSP00000359230:p.Ser332Phe		B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	NULL	p.S391F	ENST00000370211.4	37	c.1172	CCDS35438.1	X	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550079	0.45383	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212	T;T;T	0.33438	1.41;1.41;1.41	4.88	4.01	0.46588	.	0.595751	0.17220	N	0.182348	T	0.45034	0.1322	M	0.65498	2.005	0.20403	N	0.999909	P;D	0.57571	0.944;0.98	P;P	0.55303	0.66;0.773	T	0.32903	-0.9889	10	0.87932	D	0	-2.115	10.6983	0.45911	0.0:0.1897:0.8103:0.0	.	332;391	Q99871;Q99871-2	HAUS7_HUMAN;.	F	322;332;391	ENSP00000359230:S322F;ENSP00000359239:S332F;ENSP00000359231:S391F	ENSP00000359230:S322F	S	-	2	0	HAUS7	152373126	0.340000	0.24792	0.002000	0.10522	0.037000	0.13140	2.747000	0.47475	1.131000	0.42111	0.529000	0.55759	TCT	HAUS7	-	NULL		0.642	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HAUS7	HGNC	protein_coding	OTTHUMT00000060963.2	G	NM_017518		152719932	-1	no_errors	ENST00000370212	ensembl	human	known	70_37	missense	SNP	0.004	A
HCFC2	29915	genome.wustl.edu	37	12	104460085	104460085	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:104460085G>A	ENST00000229330.4	+	2	408	c.304G>A	c.(304-306)Gag>Aag	p.E102K	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	102					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGAGTTATATGAGTTACAAGT	0.333																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													136.0	143.0	140.0					12																	104460085		2203	4300	6503	SO:0001583	missense	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.304G>A	12.37:g.104460085G>A	ENSP00000229330:p.Glu102Lys		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E102K	ENST00000229330.4	37	c.304	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853844	0.71719	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.72942	-0.7;-0.16	4.11	4.11	0.48088	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.80049	-0.1545	10	0.24483	T	0.36	-11.9988	16.7318	0.85436	0.0:0.0:1.0:0.0	.	102	Q9Y5Z7	HCFC2_HUMAN	K	102;13	ENSP00000229330:E102K;ENSP00000447952:E13K	ENSP00000229330:E102K	E	+	1	0	HCFC2	102984215	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.575000	0.98187	1.986000	0.57962	0.655000	0.94253	GAG	HCFC2	-	NULL		0.333	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	G	NM_013320		104460085	+1	no_errors	ENST00000229330	ensembl	human	known	70_37	missense	SNP	1.000	A
HCN4	10021	genome.wustl.edu	37	15	73622056	73622056	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:73622056C>T	ENST00000261917.3	-	4	2441	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	483					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R483Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCGCCTGCCGCCCGTAGCC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											75.0	71.0	72.0					15																	73622056		2198	4297	6495	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1448G>A	15.37:g.73622056C>T	ENSP00000261917:p.Arg483Gln		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R483Q	ENST00000261917.3	37	c.1448	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934891	0.34189	.	.	ENSG00000138622	ENST00000261917	D	0.97378	-4.36	4.16	1.78	0.24846	Ion transport (1);	.	.	.	.	D	0.90724	0.7089	N	0.20986	0.625	0.40603	D	0.981607	B	0.06786	0.001	B	0.01281	0.0	T	0.82788	-0.0284	9	0.16420	T	0.52	.	4.3053	0.10944	0.0:0.4374:0.0:0.5626	.	483	Q9Y3Q4	HCN4_HUMAN	Q	483	ENSP00000261917:R483Q	ENSP00000261917:R483Q	R	-	2	0	HCN4	71409109	1.000000	0.71417	0.850000	0.33497	0.566000	0.35808	4.178000	0.58284	0.865000	0.35603	0.561000	0.74099	CGG	HCN4	-	pfam_Ion_trans_dom		0.632	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	C	NM_005477		73622056	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	missense	SNP	0.990	T
HELLS	3070	genome.wustl.edu	37	10	96356854	96356854	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:96356854G>A	ENST00000348459.5	+	21	2513	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299																																																	0													135.0	132.0	133.0					10																	96356854		2203	4298	6501	SO:0001583	missense	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2408G>A	10.37:g.96356854G>A	ENSP00000239027:p.Arg803Gln			Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R849Q	ENST00000348459.5	37	c.2546	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.396290	0.96009	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.92805	-2.89;-2.58;-3.11;-1.98	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	M	0.81497	2.545	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	0.97110	0.999;0.995;1.0;0.996;0.999	D	0.96226	0.9164	10	0.87932	D	0	-8.3558	19.5289	0.95219	0.0:0.0:1.0:0.0	.	787;774;673;705;803	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	Q	803;705;849;240	ENSP00000239027:R803Q;ENSP00000377609:R705Q;ENSP00000360383:R849Q;ENSP00000360378:R240Q	ENSP00000239027:R803Q	R	+	2	0	HELLS	96346844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.157000	0.94714	2.865000	0.98341	0.655000	0.94253	CGA	HELLS	-	NULL		0.299	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	G	NM_018063		96356854	+1	no_errors	ENST00000371332	ensembl	human	known	70_37	missense	SNP	1.000	A
HELZ	9931	genome.wustl.edu	37	17	65132168	65132168	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:65132168G>C	ENST00000358691.5	-	23	3266	c.3100C>G	c.(3100-3102)Ctc>Gtc	p.L1034V	HELZ_ENST00000580168.1_Missense_Mutation_p.L1035V	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1034						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GCAGTATTGAGAAGCTTGTAG	0.388																																																	0													113.0	111.0	112.0					17																	65132168		1886	4115	6001	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3100C>G	17.37:g.65132168G>C	ENSP00000351524:p.Leu1034Val		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.L1034V	ENST00000358691.5	37	c.3100	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514572	0.44763	.	.	ENSG00000198265	ENST00000358691	D	0.94897	-3.55	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.97588	1.0115	10	0.87932	D	0	-10.758	18.5448	0.91042	0.0:0.0:1.0:0.0	.	1035;1034	B7ZLW2;P42694	.;HELZ_HUMAN	V	1034	ENSP00000351524:L1034V	ENSP00000351524:L1034V	L	-	1	0	HELZ	62562630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	2.447000	0.82792	0.591000	0.81541	CTC	HELZ	-	NULL		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	G	NM_014877		65132168	-1	no_errors	ENST00000358691	ensembl	human	known	70_37	missense	SNP	1.000	C
HERC1	8925	genome.wustl.edu	37	15	63932470	63932470	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:63932470C>T	ENST00000443617.2	-	61	11869	c.11782G>A	c.(11782-11784)Gaa>Aaa	p.E3928K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3928					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGAAACATTCTAACCAGGCC	0.498																																																	0													155.0	156.0	155.0					15																	63932470		1988	4151	6139	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11782G>A	15.37:g.63932470C>T	ENSP00000390158:p.Glu3928Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E3928K	ENST00000443617.2	37	c.11782	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546040	0.65198	.	.	ENSG00000103657	ENST00000443617	T	0.22539	1.95	5.72	5.72	0.89469	.	0.130642	0.49916	D	0.000138	T	0.14700	0.0355	N	0.14661	0.345	0.50039	D	0.999845	B	0.26002	0.139	B	0.21917	0.037	T	0.12477	-1.0546	10	0.16420	T	0.52	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	3928	Q15751	HERC1_HUMAN	K	3928	ENSP00000390158:E3928K	ENSP00000390158:E3928K	E	-	1	0	HERC1	61719523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	GAA	HERC1	-	NULL		0.498	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		63932470	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T
HKDC1	80201	genome.wustl.edu	37	10	71021857	71021857	+	Intron	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:71021857C>T	ENST00000354624.5	+	16	2505				HKDC1_ENST00000395086.2_Missense_Mutation_p.H806Y	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1						carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						tctattatttcactagacatc	0.363																																																	0																																										SO:0001627	intron_variant	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2372+807C>T	10.37:g.71021857C>T			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_N,pfam_Hexokinase_C,prints_Hexokinase	p.H806Y	ENST00000354624.5	37	c.2416	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436590	0.25813	.	.	ENSG00000156510	ENST00000395086	D	0.97279	-4.32	1.89	1.89	0.25635	.	.	.	.	.	D	0.96592	0.8888	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.95637	0.8695	6	0.72032	D	0.01	.	7.2872	0.26346	0.0:1.0:0.0:0.0	.	.	.	.	Y	806	ENSP00000378521:H806Y	ENSP00000378521:H806Y	H	+	1	0	HKDC1	70691863	0.369000	0.25039	0.019000	0.16419	0.909000	0.53808	0.465000	0.22004	1.353000	0.45828	0.462000	0.41574	CAC	HKDC1	-	NULL		0.363	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	C	NM_025130		71021857	+1	no_errors	ENST00000395086	ensembl	human	known	70_37	missense	SNP	0.027	T
HIF1AN	55662	genome.wustl.edu	37	10	102296378	102296378	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:102296378G>A	ENST00000299163.6	+	2	488	c.388G>A	c.(388-390)Gag>Aag	p.E130K	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	130					cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|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)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGAGTTCGTTGAGAAACTGCA	0.408																																																	0													82.0	85.0	84.0					10																	102296378		2203	4300	6503	SO:0001583	missense	55662			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.388G>A	10.37:g.102296378G>A	ENSP00000299163:p.Glu130Lys		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E130K	ENST00000299163.6	37	c.388	CCDS7498.1	10	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289836	0.40494	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.72051	-0.62;-0.62	5.6	4.7	0.59300	.	1.175370	0.06500	U	0.736230	T	0.61022	0.2314	L	0.31752	0.955	0.39981	D	0.974914	B	0.06786	0.001	B	0.04013	0.001	T	0.40905	-0.9538	10	0.28530	T	0.3	-20.2428	10.0498	0.42208	0.0715:0.1387:0.7898:0.0	.	130	Q9NWT6	HIF1N_HUMAN	K	23;130;163	ENSP00000433360:E23K;ENSP00000299163:E130K	ENSP00000299163:E130K	E	+	1	0	HIF1AN	102286368	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	6.476000	0.73587	1.366000	0.46076	-0.172000	0.13284	GAG	HIF1AN	-	NULL		0.408	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	G	NM_017902		102296378	+1	no_errors	ENST00000299163	ensembl	human	known	70_37	missense	SNP	0.994	A
HMCN2	256158	genome.wustl.edu	37	9	133271684	133271684	+	3'UTR	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:133271684G>A	ENST00000487727.2	+	0	2269				AL354898.1_ENST00000277491.7_5'Flank			Q8NDA2	HMCN2_HUMAN	hemicentin 2						response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										GGTCCCCCTGGATCCCAGGAG	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	256158			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000487727.2:c.*2266G>A	9.37:g.133271684G>A			Q8N225|Q8TCI8	RNA	SNP	-	NULL	ENST00000487727.2	37	NULL		9																																																																																			HMCN2	-	-		0.637	HMCN2-006	KNOWN	mRNA_start_NF|basic	processed_transcript	HMCN2	HGNC	protein_coding	OTTHUMT00000054659.3	G	XM_175125		133271684	+1	no_errors	ENST00000487727	ensembl	human	known	70_37	rna	SNP	0.979	A
HNRNPH1	3187	genome.wustl.edu	37	5	179041949	179041949	+	3'UTR	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:179041949C>T	ENST00000356731.5	-	0	2897				HNRNPH1_ENST00000442819.2_3'UTR|HNRNPH1_ENST00000393432.4_3'UTR|HNRNPH1_ENST00000510411.1_3'UTR|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.A438T|HNRNPH1_ENST00000511300.2_3'UTR			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTGTTCACTGCTCCTTGGTTA	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.*12G>A	5.37:g.179041949C>T			B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.A438T	ENST00000356731.5	37	c.1312	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	c	10.71	1.426164	0.25726	.	.	ENSG00000169045	ENST00000329433	T	0.09911	2.93	5.91	2.16	0.27623	.	3.516110	0.00644	N	0.000523	T	0.19967	0.0480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01143	-1.1438	7	0.44086	T	0.13	2.1084	10.7986	0.46474	0.0:0.7434:0.0:0.2566	.	.	.	.	T	438	ENSP00000327539:A438T	ENSP00000327539:A438T	A	-	1	0	HNRNPH1	178974555	1.000000	0.71417	0.993000	0.49108	0.685000	0.39939	1.839000	0.39220	0.112000	0.17975	0.655000	0.94253	GCA	HNRNPH1	-	NULL		0.423	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	C	NM_005520		179041949	-1	no_errors	ENST00000329433	ensembl	human	putative	70_37	missense	SNP	1.000	T
HOOK3	84376	genome.wustl.edu	37	8	42821733	42821733	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:42821733G>C	ENST00000307602.4	+	10	1097	c.897G>C	c.(895-897)ctG>ctC	p.L299L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	299					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTCAGTCTCTGAAAGATGAGA	0.448			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													162.0	146.0	151.0					8																	42821733		2203	4300	6503	SO:0001819	synonymous_variant	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.897G>C	8.37:g.42821733G>C			D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	pfam_HOOK,superfamily_t-SNARE	p.L299	ENST00000307602.4	37	c.897	CCDS6139.1	8																																																																																			HOOK3	-	pfam_HOOK		0.448	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	G	NM_032410		42821733	+1	no_errors	ENST00000307602	ensembl	human	known	70_37	silent	SNP	0.084	C
HSF2BP	11077	genome.wustl.edu	37	21	45012110	45012110	+	Silent	SNP	C	C	T	rs79536904		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr21:45012110C>T	ENST00000291560.2	-	8	1123	c.792G>A	c.(790-792)ttG>ttA	p.L264L	HSF2BP_ENST00000542962.1_Silent_p.L189L	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	264					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCTTACCACTCAAAAGCCACC	0.473																																																	0													166.0	125.0	139.0					21																	45012110		2203	4300	6503	SO:0001819	synonymous_variant	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.792G>A	21.37:g.45012110C>T			B4DX36	Silent	SNP	superfamily_ARM-type_fold	p.L264	ENST00000291560.2	37	c.792	CCDS13697.1	21																																																																																			HSF2BP	-	superfamily_ARM-type_fold		0.473	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	HGNC	protein_coding	OTTHUMT00000195620.1	C	NM_007031		45012110	-1	no_errors	ENST00000291560	ensembl	human	known	70_37	silent	SNP	0.977	T
IDE	3416	genome.wustl.edu	37	10	94297221	94297221	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:94297221C>T	ENST00000265986.6	-	2	241	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	62					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TCGATATTCTCGCTTGTCTTC	0.413																																																	0													217.0	193.0	201.0					10																	94297221		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.185G>A	10.37:g.94297221C>T	ENSP00000265986:p.Arg62Gln		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.R62Q	ENST00000265986.6	37	c.185	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.125063	0.94429	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.32272	1.46;1.46	5.58	4.68	0.58851	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.50888	0.1642	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54009	-0.8357	10	0.87932	D	0	-4.0524	14.6426	0.68737	0.0:0.9297:0.0:0.0703	.	62	P14735	IDE_HUMAN	Q	62;48	ENSP00000265986:R62Q;ENSP00000408850:R48Q	ENSP00000265986:R62Q	R	-	2	0	IDE	94287201	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.373000	0.79623	1.355000	0.45865	0.655000	0.94253	CGA	IDE	-	superfamily_Metalloenz_metal-bd		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	C	NM_004969		94297221	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	T
IFT140	9742	genome.wustl.edu	37	16	1573871	1573871	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:1573871C>G	ENST00000426508.2	-	25	3591	c.3228G>C	c.(3226-3228)gaG>gaC	p.E1076D	IFT140_ENST00000361339.5_Missense_Mutation_p.E270D	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1076					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCACGCCCTTCTCCTCGTAGT	0.667																																																	0													76.0	59.0	64.0					16																	1573871		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3228G>C	16.37:g.1573871C>G	ENSP00000406012:p.Glu1076Asp		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1076D	ENST00000426508.2	37	c.3228	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813810	0.32053	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.41758	0.99;0.99	5.65	2.66	0.31614	.	0.056027	0.64402	N	0.000001	T	0.27027	0.0662	L	0.36672	1.1	0.46725	D	0.99917	B;B	0.16166	0.011;0.016	B;B	0.18561	0.015;0.022	T	0.06092	-1.0846	10	0.12430	T	0.62	.	6.9956	0.24780	0.0:0.6151:0.1264:0.2585	.	1076;763	Q96RY7;B4DR58	IF140_HUMAN;.	D	1076;270;1076	ENSP00000354895:E270D;ENSP00000406012:E1076D	ENSP00000354895:E270D	E	-	3	2	IFT140	1513872	0.987000	0.35691	0.999000	0.59377	0.664000	0.39144	0.345000	0.19979	0.342000	0.23796	0.609000	0.83330	GAG	IFT140	-	NULL		0.667	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	C	NM_014714		1573871	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	missense	SNP	1.000	G
IGF2BP1	10642	genome.wustl.edu	37	17	47121448	47121448	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:47121448G>C	ENST00000290341.3	+	11	1654	c.1320G>C	c.(1318-1320)aaG>aaC	p.K440N	IGF2BP1_ENST00000431824.2_Splice_Site_p.K301N	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	440	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCCATCAAGGTGATCTGCT	0.542																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													100.0	98.0	99.0					17																	47121448		2203	4300	6503	SO:0001630	splice_region_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1320+1G>C	17.37:g.47121448G>C			C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K440N	ENST00000290341.3	37	c.1320	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.374936	0.95923	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.30448	1.53;1.53	5.9	5.9	0.94986	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.047938	0.85682	D	0.000000	T	0.55625	0.1932	M	0.62723	1.935	0.80722	D	1	P;D	0.67145	0.856;0.996	P;D	0.75484	0.5;0.986	T	0.53472	-0.8434	10	0.66056	D	0.02	-31.7537	19.0379	0.92986	0.0:0.0:1.0:0.0	.	301;440	C9JT33;Q9NZI8	.;IF2B1_HUMAN	N	440;301	ENSP00000290341:K440N;ENSP00000389135:K301N	ENSP00000290341:K440N	K	+	3	2	IGF2BP1	44476447	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.835000	0.99442	2.786000	0.95864	0.561000	0.74099	AAG	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.542	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	G	NM_006546	Missense_Mutation	47121448	+1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	1.000	C
IGFLR1	79713	genome.wustl.edu	37	19	36231340	36231340	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:36231340C>T	ENST00000592537.1	-	3	383	c.283G>A	c.(283-285)Gga>Aga	p.G95R	IGFLR1_ENST00000587101.1_5'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G95R|IGFLR1_ENST00000592889.1_Intron|AD000671.6_ENST00000589807.1_3'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GTCACGGCTCCGCCGCCGCAG	0.687																																																	0													14.0	16.0	15.0					19																	36231340		2156	4229	6385	SO:0001583	missense	79713			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.283G>A	19.37:g.36231340C>T	ENSP00000466181:p.Gly95Arg		Q8N5X0	Missense_Mutation	SNP	superfamily_DEATH-like	p.G95R	ENST00000592537.1	37	c.283	CCDS12472.1	19	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671474	0.88348	.	.	ENSG00000126246	ENST00000246532	D	0.91894	-2.93	4.47	1.05	0.20165	.	0.333597	0.27495	N	0.019115	D	0.84938	0.5583	L	0.56769	1.78	0.38115	D	0.937672	D	0.56746	0.977	B	0.37091	0.241	T	0.80067	-0.1537	10	0.56958	D	0.05	-4.4376	2.8986	0.05698	0.1839:0.5354:0.1784:0.1024	.	95	Q9H665	IGFR1_HUMAN	R	95	ENSP00000246532:G95R	ENSP00000246532:G95R	G	-	1	0	IGFLR1	40923180	0.001000	0.12720	0.013000	0.15412	0.525000	0.34531	0.046000	0.14035	0.229000	0.21039	0.555000	0.69702	GGA	IGFLR1	-	NULL		0.687	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	IGFLR1	HGNC	protein_coding	OTTHUMT00000459077.1	C	NM_024660		36231340	-1	no_errors	ENST00000246532	ensembl	human	known	70_37	missense	SNP	0.204	T
IL15	3600	genome.wustl.edu	37	4	142653915	142653915	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:142653915G>C	ENST00000296545.7	+	8	1247	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	IL15_ENST00000529613.1_Missense_Mutation_p.E135Q|IL15_ENST00000320650.4_Missense_Mutation_p.E135Q|IL15_ENST00000514653.1_Missense_Mutation_p.E108Q|IL15_ENST00000477265.1_Missense_Mutation_p.E108Q|IL15_ENST00000394159.1_Missense_Mutation_p.E108Q			P40933	IL15_HUMAN	interleukin 15	135					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TGGATGCAAAGAATGTGAGGA	0.289																																					Pancreas(10;184 986 25902)												0													76.0	88.0	84.0					4																	142653915		2203	4298	6501	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.403G>C	4.37:g.142653915G>C	ENSP00000296545:p.Glu135Gln		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15	p.E135Q	ENST00000296545.7	37	c.403	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287173	0.59867	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.77	1.94	0.25998	.	0.398629	0.24669	N	0.036575	T	0.50205	0.1602	M	0.78916	2.43	0.35304	D	0.783278	B	0.17667	0.023	B	0.12837	0.008	T	0.51236	-0.8731	9	0.42905	T	0.14	-5.8094	2.073	0.03618	0.1699:0.1985:0.4821:0.1494	.	135	P40933	IL15_HUMAN	Q	135;135;108;135;108;108	.	ENSP00000296545:E135Q	E	+	1	0	IL15	142873365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.653000	0.24902	0.369000	0.24510	0.650000	0.86243	GAA	IL15	-	pfam_Interleukin_15-like,prints_Interleukin-15		0.289	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	G	NM_172175		142653915	+1	no_errors	ENST00000296545	ensembl	human	known	70_37	missense	SNP	1.000	C
IL17C	27189	genome.wustl.edu	37	16	88705717	88705717	+	Splice_Site	SNP	G	G	A	rs368594752		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:88705717G>A	ENST00000244241.4	+	2	384	c.335G>A	c.(334-336)cGt>cAt	p.R112H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	112					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGGAGATACCGGTGAGGACCT	0.687																																																	0													12.0	16.0	14.0					16																	88705717		2131	4258	6389	SO:0001630	splice_region_variant	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.335+1G>A	16.37:g.88705717G>A			Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.R112H	ENST00000244241.4	37	c.335	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022261	0.75275	.	.	ENSG00000124391	ENST00000244241	T	0.55588	0.51	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000022	T	0.66597	0.2805	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66240	-0.5973	10	0.42905	T	0.14	-32.2782	11.4937	0.50396	0.0:0.182:0.818:0.0	.	112	Q9P0M4	IL17C_HUMAN	H	112	ENSP00000244241:R112H	ENSP00000244241:R112H	R	+	2	0	IL17C	87233218	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.882000	0.48546	2.262000	0.75019	0.561000	0.74099	CGT	IL17C	-	pfam_Interleukin-17,prints_Interleukin-17_chordata		0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	G	NM_013278	Missense_Mutation	88705717	+1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	1.000	A
INPP5J	27124	genome.wustl.edu	37	22	31521299	31521299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:31521299G>T	ENST00000331075.5	+	2	623	c.574G>T	c.(574-576)Gag>Tag	p.E192*	INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000400294.2_Intron|INPP5J_ENST00000405300.1_Intron|INPP5J_ENST00000412277.2_Nonsense_Mutation_p.E125*|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000401755.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	192	Pro-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCTGGCTTCTGAGGAGCAGCC	0.657																																																	0																																										SO:0001587	stop_gained	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.574G>T	22.37:g.31521299G>T	ENSP00000333262:p.Glu192*		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.E192*	ENST00000331075.5	37	c.574		22	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845826	0.71603	.	.	ENSG00000185133	ENST00000412985;ENST00000331075;ENST00000412277	.	.	.	4.19	1.93	0.25924	.	0.782736	0.11200	N	0.588906	.	.	.	.	.	.	0.24219	N	0.995444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0992	0.59210	0.0:0.6395:0.3605:0.0	.	.	.	.	X	125;192;125	.	.	E	+	1	0	INPP5J	29851299	0.001000	0.12720	0.814000	0.32528	0.358000	0.29455	0.928000	0.28831	0.455000	0.26910	0.456000	0.33151	GAG	INPP5J	-	NULL		0.657	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	G	NM_001002837		31521299	+1	no_errors	ENST00000331075	ensembl	human	known	70_37	nonsense	SNP	0.481	T
INTS1	26173	genome.wustl.edu	37	7	1535091	1535091	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:1535091C>T	ENST00000404767.3	-	13	1895	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	INTS1_ENST00000389470.4_Missense_Mutation_p.A732T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	604					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTTAGGGGCGAGCTTGCTG	0.662																																																	0													40.0	46.0	44.0					7																	1535091		2040	4179	6219	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1810G>A	7.37:g.1535091C>T	ENSP00000385722:p.Ala604Thr		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A732T	ENST00000404767.3	37	c.2194	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	c	6.517	0.463579	0.12402	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.42513	0.97;0.97	4.79	0.837	0.18896	.	0.264534	0.37136	N	0.002231	T	0.11793	0.0287	N	0.01048	-1.04	0.24609	N	0.993734	B	0.06786	0.001	B	0.04013	0.001	T	0.25916	-1.0118	10	0.18710	T	0.47	.	5.3565	0.16063	0.4075:0.4452:0.0:0.1473	.	604	Q8N201	INT1_HUMAN	T	604;732	ENSP00000385722:A604T;ENSP00000374121:A732T	ENSP00000374121:A732T	A	-	1	0	INTS1	1501617	0.979000	0.34478	0.116000	0.21606	0.888000	0.51559	2.444000	0.44890	-0.142000	0.11354	-1.032000	0.02404	GCC	INTS1	-	NULL		0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1535091	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.519	T
INTS12	57117	genome.wustl.edu	37	4	106604362	106604362	+	Nonsense_Mutation	SNP	G	G	C	rs4069		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:106604362G>C	ENST00000451321.2	-	7	1396	c.917C>G	c.(916-918)tCa>tGa	p.S306*	INTS12_ENST00000340139.5_Nonsense_Mutation_p.S306*|INTS12_ENST00000394735.1_Nonsense_Mutation_p.S306*	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	306	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTTGCTGTTGAAGGACCAGC	0.453																																																	0													93.0	95.0	94.0					4																	106604362		2203	4300	6503	SO:0001587	stop_gained	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.917C>G	4.37:g.106604362G>C	ENSP00000415433:p.Ser306*		B2RC48|Q3B6Z3|Q9HD71	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S306*	ENST00000451321.2	37	c.917	CCDS3671.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.565810	0.98866	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	.	.	.	5.49	5.49	0.81192	.	0.204128	0.42964	D	0.000623	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-13.2033	12.6901	0.56970	0.0756:0.0:0.9244:0.0	.	.	.	.	X	306	.	ENSP00000340737:S306X	S	-	2	0	INTS12	106823811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.037000	0.76531	2.579000	0.87056	0.591000	0.81541	TCA	INTS12	-	NULL		0.453	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	G	NM_020395		106604362	-1	no_errors	ENST00000340139	ensembl	human	known	70_37	nonsense	SNP	0.998	C
IP6K1	9807	genome.wustl.edu	37	3	49765613	49765613	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:49765613C>T	ENST00000321599.4	-	5	1016	c.715G>A	c.(715-717)Gag>Aag	p.E239K	IP6K1_ENST00000395238.1_Missense_Mutation_p.E74K|IP6K1_ENST00000468463.1_Missense_Mutation_p.E239K|IP6K1_ENST00000460540.1_Missense_Mutation_p.E74K	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	239					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCTGCCTTCTCAGCTGACGCG	0.612																																																	0													115.0	99.0	104.0					3																	49765613		2203	4300	6503	SO:0001583	missense	9807			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.715G>A	3.37:g.49765613C>T	ENSP00000323780:p.Glu239Lys		A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	pfam_IPK	p.E239K	ENST00000321599.4	37	c.715	CCDS33760.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.571804	0.96553	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000468463;ENST00000460540	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.992	T	0.03463	-1.1034	10	0.27082	T	0.32	-24.0161	14.485	0.67611	0.0:0.9293:0.0:0.0707	.	239;239	C9JNA8;Q92551	.;IP6K1_HUMAN	K	239;74;239;74	ENSP00000323780:E239K;ENSP00000378659:E74K;ENSP00000420467:E239K;ENSP00000420762:E74K	ENSP00000323780:E239K	E	-	1	0	IP6K1	49740617	1.000000	0.71417	0.885000	0.34714	0.952000	0.60782	7.818000	0.86416	1.348000	0.45733	0.655000	0.94253	GAG	IP6K1	-	pfam_IPK		0.612	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K1	HGNC	protein_coding	OTTHUMT00000350380.1	C	NM_153273		49765613	-1	no_errors	ENST00000321599	ensembl	human	known	70_37	missense	SNP	1.000	T
IRX1	79192	genome.wustl.edu	37	5	3599746	3599746	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:3599746C>T	ENST00000302006.3	+	2	736	c.684C>T	c.(682-684)atC>atT	p.I228I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	228					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAAAGCATCGACATTGACA	0.642																																																	0													66.0	61.0	62.0					5																	3599746		2203	4300	6503	SO:0001819	synonymous_variant	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.684C>T	5.37:g.3599746C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.I228	ENST00000302006.3	37	c.684	CCDS34132.1	5																																																																																			IRX1	-	NULL		0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	C	NM_024337		3599746	+1	no_errors	ENST00000302006	ensembl	human	known	70_37	silent	SNP	0.990	T
ITGA4	3676	genome.wustl.edu	37	2	182400201	182400201	+	Missense_Mutation	SNP	G	G	C	rs201914045		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:182400201G>C	ENST00000397033.2	+	28	3476	c.3046G>C	c.(3046-3048)Gaa>Caa	p.E1016Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1016					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCTACAAGAAGAAAACAGAAG	0.328																																																	0													144.0	144.0	144.0					2																	182400201		1819	4077	5896	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.3046G>C	2.37:g.182400201G>C	ENSP00000380227:p.Glu1016Gln		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E1016Q	ENST00000397033.2	37	c.3046	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750237	0.49257	.	.	ENSG00000115232	ENST00000397033	T	0.66638	-0.22	5.45	5.45	0.79879	.	0.353763	0.35838	N	0.002943	T	0.53029	0.1771	L	0.52573	1.65	0.34116	D	0.663543	P	0.38788	0.647	B	0.31495	0.131	T	0.68055	-0.5510	10	0.56958	D	0.05	.	5.7549	0.18168	0.1589:0.1739:0.6673:0.0	.	1016	P13612	ITA4_HUMAN	Q	1016	ENSP00000380227:E1016Q	ENSP00000380227:E1016Q	E	+	1	0	ITGA4	182108446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	2.538000	0.85594	0.563000	0.77884	GAA	ITGA4	-	NULL		0.328	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182400201	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	C
JAG2	3714	genome.wustl.edu	37	14	105611334	105611334	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:105611334C>T	ENST00000331782.3	-	24	3420	c.3017G>A	c.(3016-3018)cGg>cAg	p.R1006Q	JAG2_ENST00000347004.2_Missense_Mutation_p.R968Q	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1006					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGGCGGTCCCGTGCCACAGC	0.711																																																	0													28.0	31.0	30.0					14																	105611334		2195	4290	6485	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3017G>A	14.37:g.105611334C>T	ENSP00000328169:p.Arg1006Gln		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.R1006Q	ENST00000331782.3	37	c.3017	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	C	2.272	-0.366812	0.05069	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.85955	-2.05;-2.05	3.83	0.918	0.19386	.	0.519401	0.18031	U	0.153914	T	0.73410	0.3583	L	0.38838	1.175	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.14578	0.011;0.005	T	0.54675	-0.8258	10	0.17369	T	0.5	.	7.1728	0.25728	0.0:0.7069:0.0:0.2931	.	968;1006	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Q	1006;968	ENSP00000328169:R1006Q;ENSP00000328566:R968Q	ENSP00000328169:R1006Q	R	-	2	0	JAG2	104682379	0.000000	0.05858	0.851000	0.33527	0.084000	0.17831	-0.335000	0.07873	-0.001000	0.14495	-0.384000	0.06662	CGG	JAG2	-	NULL		0.711	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	C			105611334	-1	no_errors	ENST00000331782	ensembl	human	known	70_37	missense	SNP	0.100	T
JARID2	3720	genome.wustl.edu	37	6	15468829	15468829	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:15468829G>A	ENST00000341776.2	+	5	794	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	JARID2_ENST00000541660.1_Missense_Mutation_p.E146K|JARID2_ENST00000397311.3_Missense_Mutation_p.E12K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	184					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGATGAGGAGGAAGTCGAGGA	0.493																																																	0													133.0	113.0	120.0					6																	15468829		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.550G>A	6.37:g.15468829G>A	ENSP00000341280:p.Glu184Lys		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.E184K	ENST00000341776.2	37	c.550	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059559	0.76074	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.35236	1.32;1.32;1.32	4.94	4.94	0.65067	.	0.255650	0.38381	N	0.001707	T	0.08537	0.0212	N	0.03608	-0.345	0.37615	D	0.921098	P;B;B	0.35272	0.493;0.418;0.181	B;B;B	0.27380	0.079;0.058;0.022	T	0.08827	-1.0703	10	0.30078	T	0.28	-7.7626	17.8437	0.88722	0.0:0.0:1.0:0.0	.	146;48;184	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	K	48;184;12;146	ENSP00000341280:E184K;ENSP00000380478:E12K;ENSP00000444623:E146K	ENSP00000341280:E184K	E	+	1	0	JARID2	15576808	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	8.403000	0.90208	2.292000	0.77174	0.650000	0.86243	GAA	JARID2	-	NULL		0.493	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	G	NM_004973		15468829	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	A
JPH2	57158	genome.wustl.edu	37	20	42815123	42815123	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:42815123C>G	ENST00000372980.3	-	1	1095	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	JPH2_ENST00000342272.3_Missense_Mutation_p.E75Q	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	75	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTTGGTCTCTATGCCCAGC	0.597																																																	0													123.0	93.0	103.0					20																	42815123		2203	4300	6503	SO:0001583	missense	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.223G>C	20.37:g.42815123C>G	ENSP00000362071:p.Glu75Gln		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.E75Q	ENST00000372980.3	37	c.223	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	c	14.72	2.618308	0.46736	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55930	0.49;0.49	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.28054	0.825	0.58432	D	0.999997	B;D	0.89917	0.215;1.0	B;D	0.97110	0.131;1.0	T	0.58891	-0.7556	10	0.29301	T	0.29	.	17.4072	0.87477	0.0:1.0:0.0:0.0	.	75;75	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	Q	75	ENSP00000362071:E75Q;ENSP00000344590:E75Q	ENSP00000344590:E75Q	E	-	1	0	JPH2	42248537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.096000	0.63516	0.550000	0.68814	GAG	JPH2	-	pfam_MORN,smart_MORN,pirsf_Junctophilin		0.597	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1	C			42815123	-1	no_errors	ENST00000372980	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNJ14	3770	genome.wustl.edu	37	19	48965272	48965272	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:48965272C>T	ENST00000391884.1	+	1	767	c.291C>T	c.(289-291)ttC>ttT	p.F97F	KCNJ14_ENST00000342291.2_Silent_p.F97F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	97					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCTGCTCCTTCCTCGCCTCCT	0.687																																					NSCLC(148;170 3504 35216)												0													69.0	40.0	50.0					19																	48965272		2203	4300	6503	SO:0001819	synonymous_variant	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.291C>T	19.37:g.48965272C>T				Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.F97	ENST00000391884.1	37	c.291	CCDS12721.1	19																																																																																			KCNJ14	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48965272	+1	no_errors	ENST00000342291	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNMA1	3778	genome.wustl.edu	37	10	79396286	79396286	+	Intron	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:79396286G>A	ENST00000286628.8	-	1	378				KCNMA1_ENST00000480683.1_Intron|KCNMA1_ENST00000406533.3_Intron|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000372443.1_Intron|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000481070.1_3'UTR|KCNMA1_ENST00000354353.5_Intron|KCNMA1_ENST00000404857.1_Intron	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGGGGCAAAGGAACAGAGGCC	0.602																																																	0																																										SO:0001627	intron_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.378+736C>T	10.37:g.79396286G>A			F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	RNA	SNP	-	NULL	ENST00000286628.8	37	NULL		10																																																																																			KCNMA1	-	-		0.602	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	G	NM_002247		79396286	-1	no_errors	ENST00000481070	ensembl	human	known	70_37	rna	SNP	0.000	A
KIAA0556	23247	genome.wustl.edu	37	16	27692767	27692767	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:27692767G>A	ENST00000261588.4	+	8	875	c.856G>A	c.(856-858)Gag>Aag	p.E286K	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	286						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGACAATGCTGAGGTTTTCGT	0.502																																																	0													186.0	188.0	187.0					16																	27692767		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.856G>A	16.37:g.27692767G>A	ENSP00000261588:p.Glu286Lys		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E286K	ENST00000261588.4	37	c.856	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410847	0.62399	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.13089	2.62	5.4	5.4	0.78164	.	0.291124	0.30547	N	0.009386	T	0.38081	0.1027	M	0.76328	2.33	0.40719	D	0.982646	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.18903	-1.0322	10	0.72032	D	0.01	-4.8579	14.6685	0.68926	0.0:0.0:1.0:0.0	.	194;286	Q8N803;O60303	.;K0556_HUMAN	K	286;193	ENSP00000261588:E286K	ENSP00000261588:E286K	E	+	1	0	KIAA0556	27600268	1.000000	0.71417	0.950000	0.38849	0.133000	0.20885	5.322000	0.65852	2.526000	0.85167	0.563000	0.77884	GAG	KIAA0556	-	NULL		0.502	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27692767	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.999	A
KIF18A	81930	genome.wustl.edu	37	11	28056945	28056945	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:28056945C>T	ENST00000263181.6	-	15	2783	c.2493G>A	c.(2491-2493)cgG>cgA	p.R831R		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	831					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTGTTAATTTCCGTTTCCTTT	0.328																																																	0													85.0	77.0	79.0					11																	28056945		2200	4299	6499	SO:0001819	synonymous_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2493G>A	11.37:g.28056945C>T			Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R831	ENST00000263181.6	37	c.2493	CCDS7867.1	11																																																																																			KIF18A	-	NULL		0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28056945	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF23	9493	genome.wustl.edu	37	15	69730693	69730693	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:69730693G>C	ENST00000260363.4	+	15	1779	c.1662G>C	c.(1660-1662)caG>caC	p.Q554H	KIF23_ENST00000395392.2_Missense_Mutation_p.Q554H|KIF23_ENST00000537891.1_Missense_Mutation_p.Q371H|KIF23_ENST00000558585.1_Missense_Mutation_p.Q371H|KIF23_ENST00000559279.1_Missense_Mutation_p.Q554H|KIF23_ENST00000352331.4_Missense_Mutation_p.Q554H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	554					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCTCAGGACAGAAATTGGAAA	0.313																																																	0													89.0	92.0	91.0					15																	69730693		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1662G>C	15.37:g.69730693G>C	ENSP00000260363:p.Gln554His		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q554H	ENST00000260363.4	37	c.1662	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644449	0.87859	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.45	5.45	0.79879	.	0.219849	0.48767	D	0.000170	T	0.77184	0.4093	L	0.29908	0.895	0.80722	D	1	P;D;D	0.76494	0.94;0.998;0.999	P;D;D	0.80764	0.497;0.994;0.926	T	0.76756	-0.2842	10	0.41790	T	0.15	.	18.2709	0.90068	0.0:0.0:1.0:0.0	.	371;554;554	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	H	554;554;554;371	ENSP00000260363:Q554H;ENSP00000304978:Q554H;ENSP00000378790:Q554H;ENSP00000442969:Q371H	ENSP00000260363:Q554H	Q	+	3	2	KIF23	67517747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.537000	0.45702	2.538000	0.85594	0.650000	0.86243	CAG	KIF23	-	NULL		0.313	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69730693	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	C
L2HGDH	79944	genome.wustl.edu	37	14	50760949	50760949	+	Missense_Mutation	SNP	C	C	T	rs75821386		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:50760949C>T	ENST00000267436.4	-	4	821	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	L2HGDH_ENST00000555423.1_Missense_Mutation_p.E142K|L2HGDH_ENST00000555610.1_Missense_Mutation_p.E142K|L2HGDH_ENST00000421284.3_Missense_Mutation_p.E142K|L2HGDH_ENST00000261699.4_Missense_Mutation_p.E142K			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	142					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TCTTCTTGTTCAACAGCTACT	0.413																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	68.0	64.0	65.0		424	5.2	1.0	14	dbSNP_133	65	0,8600		0,0,4300	no	missense	L2HGDH	NM_024884.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	142/464	50760949	1,13005	2203	4300	6503	SO:0001583	missense	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.424G>A	14.37:g.50760949C>T	ENSP00000267436:p.Glu142Lys		Q9BRR1	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.E142K	ENST00000267436.4	37	c.424	CCDS9698.1	14	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362100	0.61403	2.27E-4	0.0	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000555423;ENST00000555610	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.17	5.17	0.71159	FAD dependent oxidoreductase (1);	0.091304	0.85682	D	0.000000	T	0.79713	0.4493	L	0.41824	1.3	0.80722	D	1	B;B	0.32324	0.198;0.364	B;B	0.33690	0.135;0.168	T	0.77008	-0.2747	10	0.36615	T	0.2	-20.188	12.8952	0.58095	0.0:0.9245:0.0:0.0755	.	142;142	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	K	142	ENSP00000261699:E142K;ENSP00000267436:E142K;ENSP00000405559:E142K;ENSP00000450494:E142K;ENSP00000452483:E142K	ENSP00000261699:E142K	E	-	1	0	L2HGDH	49830699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.216000	0.51176	2.788000	0.95919	0.650000	0.86243	GAA	L2HGDH	-	pfam_FAD-dep_OxRdtase		0.413	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	C	NM_024884		50760949	-1	no_errors	ENST00000267436	ensembl	human	known	70_37	missense	SNP	1.000	T
LATS1	9113	genome.wustl.edu	37	6	150016267	150016267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:150016267G>A	ENST00000543571.1	-	3	986	c.439C>T	c.(439-441)Cga>Tga	p.R147*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.R147*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.R147*	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)		TGCTCTCGTCGAGGATCTTGG	0.368																																																	0													155.0	160.0	158.0					6																	150016267		2203	4300	6503	SO:0001587	stop_gained	9113			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.439C>T	6.37:g.150016267G>A	ENSP00000437550:p.Arg147*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_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_cat_dom	p.R147*	ENST00000543571.1	37	c.439	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.826993	0.96996	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	.	.	.	5.43	4.56	0.56223	.	0.000000	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3606	0.38192	0.0721:0.0:0.7827:0.1451	.	.	.	.	X	147;147;147;93	.	.	R	-	1	2	LATS1	150057960	1.000000	0.71417	0.977000	0.42913	0.676000	0.39594	3.132000	0.50523	1.409000	0.46915	0.557000	0.71058	CGA	LATS1	-	NULL		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150016267	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	0.786	A
LBX2	85474	genome.wustl.edu	37	2	74726617	74726617	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:74726617G>A	ENST00000377566.4	-	1	226	c.48C>T	c.(46-48)atC>atT	p.I16I	RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000550249.1_Intron|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000460508.3_Intron|LBX2_ENST00000341396.2_Intron	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GGATGTCTGCGATGCTTAAGA	0.701																																																	0																																										SO:0001819	synonymous_variant	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.48C>T	2.37:g.74726617G>A			Q7Z5Y8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I16	ENST00000377566.4	37	c.48		2																																																																																			LBX2	-	NULL		0.701	LBX2-002	KNOWN	basic|appris_principal	protein_coding	LBX2	HGNC	protein_coding	OTTHUMT00000328490.1	G	NM_001009812		74726617	-1	no_errors	ENST00000377566	ensembl	human	known	70_37	silent	SNP	1.000	A
LCT	3938	genome.wustl.edu	37	2	136546109	136546109	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:136546109C>T	ENST00000264162.2	-	17	5579	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1857					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGGTGGGTCCAGCATCTAGG	0.557																																																	0													90.0	87.0	88.0					2																	136546109		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5569G>A	2.37:g.136546109C>T	ENSP00000264162:p.Gly1857Arg		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G1857R	ENST00000264162.2	37	c.5569	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035419	0.19590	.	.	ENSG00000115850	ENST00000264162	T	0.26660	1.72	5.53	4.62	0.57501	.	2.487100	0.01408	N	0.013890	T	0.26448	0.0646	L	0.40543	1.245	0.09310	N	1	B	0.27732	0.187	B	0.21546	0.035	T	0.30822	-0.9965	10	0.16420	T	0.52	0.0176	14.0535	0.64751	0.0:0.8504:0.1496:0.0	.	1857	P09848	LPH_HUMAN	R	1857	ENSP00000264162:G1857R	ENSP00000264162:G1857R	G	-	1	0	LCT	136262579	0.000000	0.05858	0.011000	0.14972	0.082000	0.17680	0.392000	0.20801	2.871000	0.98454	0.655000	0.94253	GGA	LCT	-	NULL		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136546109	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	missense	SNP	0.015	T
LEPREL2	10536	genome.wustl.edu	37	12	6941065	6941065	+	RNA	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:6941065G>C	ENST00000538102.1	+	0	417				LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGGGGACCAGCTTCAAGGAT	0.557																																																	0													75.0	85.0	82.0					12																	6941065		2103	4223	6326			10536			U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6941065G>C			Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.S399T	ENST00000538102.1	37	c.1196		12	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.490923	0.01018	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.32988	1.43;1.85	5.19	0.0987	0.14499	.	0.370250	0.35235	N	0.003342	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.31077	0.307	B	0.20767	0.031	T	0.33828	-0.9853	9	0.10377	T	0.69	.	6.9599	0.24591	0.2739:0.3028:0.4233:0.0	.	400	Q8IVL6	P3H3_HUMAN	T	399;215	ENSP00000379951:S399T;ENSP00000290510:S215T	ENSP00000290510:S215T	S	+	2	0	LEPREL2	6811326	0.001000	0.12720	0.942000	0.38095	0.199000	0.23934	-0.311000	0.08124	0.075000	0.16796	-1.036000	0.02392	AGC	LEPREL2	-	NULL		0.557	LEPREL2-006	KNOWN	basic	processed_transcript	LEPREL2	HGNC	polymorphic_pseudogene	OTTHUMT00000399998.1	G	NM_014262		6941065	+1	no_errors	ENST00000396725	ensembl	human	known	70_37	missense	SNP	0.016	C
LGR5	8549	genome.wustl.edu	37	12	71946981	71946981	+	Missense_Mutation	SNP	C	C	T	rs144739516	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:71946981C>T	ENST00000266674.5	+	5	868	c.557C>T	c.(556-558)tCg>tTg	p.S186L	LGR5_ENST00000540815.2_Missense_Mutation_p.S186L|LGR5_ENST00000536515.1_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	186					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGAAGTTTATCGGCATTGCAA	0.488																																																	0								C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	147.0	141.0	143.0		557	5.8	1.0	12	dbSNP_134	143	0,8600		0,0,4300	no	missense	LGR5	NM_003667.2	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	186/908	71946981	2,13004	2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.557C>T	12.37:g.71946981C>T	ENSP00000266674:p.Ser186Leu		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.S186L	ENST00000266674.5	37	c.557	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648964	0.67358	4.54E-4	0.0	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000540815	T;T	0.17213	2.29;2.29	5.82	5.82	0.92795	.	0.393509	0.22690	N	0.056831	T	0.18964	0.0455	L	0.46157	1.445	0.40076	D	0.976072	P;P	0.42518	0.599;0.782	B;B	0.34991	0.183;0.193	T	0.02498	-1.1150	10	0.66056	D	0.02	.	20.0852	0.97797	0.0:1.0:0.0:0.0	.	186;186	O75473-2;O75473	.;LGR5_HUMAN	L	186	ENSP00000266674:S186L;ENSP00000441035:S186L	ENSP00000266674:S186L	S	+	2	0	LGR5	70233248	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	7.818000	0.86416	2.752000	0.94435	0.655000	0.94253	TCG	LGR5	-	smart_Leu-rich_rpt_typical-subtyp		0.488	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71946981	+1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	1.000	T
LGR6	59352	genome.wustl.edu	37	1	202287768	202287768	+	Silent	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:202287768C>A	ENST00000367278.3	+	18	2426	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	LGR6_ENST00000255432.7_Silent_p.I727I|LGR6_ENST00000439764.2_Silent_p.I640I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	779					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCTGGCTCATCTTCGCAGACG	0.642																																																	0													100.0	80.0	87.0					1																	202287768		2203	4300	6503	SO:0001819	synonymous_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2337C>A	1.37:g.202287768C>A			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.I779	ENST00000367278.3	37	c.2337	CCDS30971.1	1																																																																																			LGR6	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt		0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	C	NM_021636		202287768	+1	no_errors	ENST00000367278	ensembl	human	known	70_37	silent	SNP	1.000	A
LILRA5	353514	genome.wustl.edu	37	19	54822935	54822935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:54822935G>T	ENST00000301219.3	-	5	580	c.461C>A	c.(460-462)tCa>tAa	p.S154*	LILRA5_ENST00000346508.3_Nonsense_Mutation_p.S142*|LILRA5_ENST00000446712.3_Nonsense_Mutation_p.S142*|LILRA5_ENST00000432233.3_Nonsense_Mutation_p.S154*|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	154	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTTCTCTCCTGAGGTCACCAC	0.562																																																	0													83.0	83.0	83.0					19																	54822935		2203	4300	6503	SO:0001587	stop_gained	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.461C>A	19.37:g.54822935G>T	ENSP00000301219:p.Ser154*		A6NHI3	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2	p.S154*	ENST00000301219.3	37	c.461	CCDS12888.1	19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460820	0.84317	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	.	.	.	3.14	3.14	0.36123	.	1.208630	0.06470	U	0.730920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0788	0.42377	0.0:0.0:1.0:0.0	.	.	.	.	X	154;142;142;154	.	ENSP00000301219:S154X	S	-	2	0	LILRA5	59514747	0.011000	0.17503	0.179000	0.23059	0.030000	0.12068	1.651000	0.37302	1.481000	0.48307	0.205000	0.17691	TCA	LILRA5	-	smart_Ig_sub		0.562	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	G	NM_181985		54822935	-1	no_errors	ENST00000301219	ensembl	human	known	70_37	nonsense	SNP	0.596	T
LIMCH1	22998	genome.wustl.edu	37	4	41683071	41683071	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:41683071A>G	ENST00000313860.7	+	20	2614	c.2560A>G	c.(2560-2562)Aca>Gca	p.T854A	LIMCH1_ENST00000508501.1_Missense_Mutation_p.T853A|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1238A|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T777A|LIMCH1_ENST00000512820.1_Missense_Mutation_p.T866A|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T687A|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T707A|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T687A|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T699A|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T694A|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T694A|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T854A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	854					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGGCAGTGGGACAATGGTGAG	0.428																																																	0													121.0	111.0	114.0					4																	41683071		2203	4300	6503	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2560A>G	4.37:g.41683071A>G	ENSP00000316891:p.Thr854Ala		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T1238A	ENST00000313860.7	37	c.3712	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	A	9.257	1.042242	0.19748	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.78;1.35;1.36;1.4;0.67;1.29;0.82;0.75;0.75;0.69;0.76;0.76	5.92	0.165	0.14995	.	0.595355	0.18534	N	0.138417	T	0.35158	0.0922	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23249	0.007;0.0;0.001;0.001;0.002;0.002;0.082;0.0;0.001;0.004;0.007;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.28553	0.004;0.003;0.003;0.003;0.014;0.009;0.091;0.004;0.003;0.004;0.014;0.001	T	0.27157	-1.0082	10	0.45353	T	0.12	-3.1968	6.9935	0.24767	0.6619:0.1229:0.2152:0.0	.	694;604;687;777;687;699;1238;707;866;853;854;854	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	A	707;853;854;854;777;866;1238;694;1237;694;687;699;687;206	ENSP00000425222:T707A;ENSP00000424825:T853A;ENSP00000424645:T854A;ENSP00000316891:T854A;ENSP00000427045:T777A;ENSP00000424437:T866A;ENSP00000425631:T1238A;ENSP00000421242:T694A;ENSP00000426334:T694A;ENSP00000422864:T687A;ENSP00000379840:T699A;ENSP00000371172:T687A	ENSP00000316891:T854A	T	+	1	0	LIMCH1	41377828	0.844000	0.29557	0.004000	0.12327	0.003000	0.03518	0.982000	0.29539	0.124000	0.18369	-0.917000	0.02746	ACA	LIMCH1	-	NULL		0.428	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	A	NM_014988		41683071	+1	no_errors	ENST00000503057	ensembl	human	known	70_37	missense	SNP	0.046	G
LINC00086	399668	genome.wustl.edu	37	X	134556239	134556239	+	lincRNA	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:134556239C>G	ENST00000417443.2	+	0	372					NR_024359.1				long intergenic non-protein coding RNA 86																		TCCCCTACTTCTACATCGTGG	0.697																																																	0																																												399668			BC030620, BC051704		Xq26.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000178947	ENSG00000178947		"""Long non-coding RNAs"""	34499	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 86"""	NCRNA00086			Standard	NR_024359		Approved	MGC39606	uc004eyv.4		OTTHUMG00000022479		X.37:g.134556239C>G				RNA	SNP	-	NULL	ENST00000417443.2	37	NULL		X																																																																																			LINC00086	-	-		0.697	LINC00086-001	KNOWN	basic	lincRNA	LINC00086	HGNC	lincRNA	OTTHUMT00000058412.2	C			134556239	+1	no_errors	ENST00000417443	ensembl	human	known	70_37	rna	SNP	1.000	G
LINC00461	645323	genome.wustl.edu	37	5	87963223	87963223	+	lincRNA	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:87963223G>C	ENST00000384838.1	-	0	0					NR_030741.1				long intergenic non-protein coding RNA 461																		CTATAGAAGTGACAGCTGATT	0.428																																																	0																																												645323					5q14.3	2014-01-14			ENSG00000245526	ENSG00000245526		"""Long non-coding RNAs"""	42810	non-coding RNA	RNA, long non-coding							Standard	NR_015436		Approved	EyeLinc1, Visc-1a, Visc-1b	uc003kjg.3		OTTHUMG00000162632		5.37:g.87963223G>C				RNA	SNP	-	NULL	ENST00000384838.1	37	NULL		5																																																																																			LINC00461	-	-		0.428	LINC00461-201	KNOWN	basic	miRNA	LINC00461	HGNC	lincRNA		G			87963223	-1	no_errors	ENST00000500197	ensembl	human	known	70_37	rna	SNP	1.000	C
LIPH	200879	genome.wustl.edu	37	3	185229347	185229347	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:185229347G>C	ENST00000296252.4	-	9	1374	c.1233C>G	c.(1231-1233)ctC>ctG	p.L411L	LIPH_ENST00000424591.2_Silent_p.L377L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	411					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTTCATTCGGAGAATCCTGA	0.453																																																	0													114.0	110.0	111.0					3																	185229347		2203	4300	6503	SO:0001819	synonymous_variant	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1233C>G	3.37:g.185229347G>C			A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L411	ENST00000296252.4	37	c.1233	CCDS3272.1	3																																																																																			LIPH	-	superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.453	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	G			185229347	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	silent	SNP	0.883	C
ZNF667-AS1	100128252	genome.wustl.edu	37	19	57006285	57006285	+	lincRNA	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:57006285T>C	ENST00000585445.1	+	0	1005					NR_036521.1				ZNF667 antisense RNA 1 (head to head)																		tatttcatggtatgtttagat	0.423																																																	0																																												100128252			AW955601, BC110411		19q13.43	2013-05-21			ENSG00000166770	ENSG00000166770		"""Long non-coding RNAs"""	44321	non-coding RNA	RNA, long non-coding							Standard	NR_036521		Approved				OTTHUMG00000181942		19.37:g.57006285T>C				RNA	SNP	-	NULL	ENST00000585445.1	37	NULL		19																																																																																			AC004696.2	-	-		0.423	ZNF667-AS1-001	KNOWN	basic	lincRNA	LOC100128252	Clone_based_vega_gene	lincRNA	OTTHUMT00000458401.1	T	NR_036521		57006285	+1	no_errors	ENST00000585445	ensembl	human	known	70_37	rna	SNP	0.017	C
LOC400499	400499	genome.wustl.edu	37	16	11556126	11556126	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:11556126C>T	ENST00000344649.3	-	12	1569	c.37G>A	c.(37-39)Gag>Aag	p.E13K	CTD-3088G3.6_ENST00000572950.1_RNA																							CGCTCAGCCTCGCCACCCATG	0.662																																																	0																																										SO:0001583	missense	101060360																														ENST00000344649.3:c.37G>A	16.37:g.11556126C>T	ENSP00000343456:p.Glu13Lys			Missense_Mutation	SNP	NULL	p.E13K	ENST00000344649.3	37	c.37		16	.	.	.	.	.	.	.	.	.	.	C	8.184	0.794469	0.16327	.	.	ENSG00000188897	ENST00000344649	T	0.41400	1.0	3.12	-0.278	0.12894	.	0.096453	0.41938	U	0.000782	T	0.21841	0.0526	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.14924	-1.0455	8	0.15066	T	0.55	-3.5698	3.1057	0.06341	0.2086:0.5315:0.0:0.26	.	.	.	.	K	13	ENSP00000343456:E13K	ENSP00000343456:E13K	E	-	1	0	AC099489.1	11463627	0.297000	0.24408	0.000000	0.03702	0.000000	0.00434	2.490000	0.45294	-0.159000	0.11021	-0.455000	0.05494	GAG	CTD-3088G3.8	-	NULL		0.662	CTD-3088G3.8-201	KNOWN	basic|appris_principal	protein_coding	LOC101060360	Clone_based_vega_gene	protein_coding		C			11556126	-1	no_errors	ENST00000344649	ensembl	human	known	70_37	missense	SNP	0.001	T
SMG1P5	595101	genome.wustl.edu	37	16	30309792	30309792	+	RNA	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:30309792G>A	ENST00000411546.3	-	0	1035					NR_002453.4																						ATCTTTTGCAGATGAGCTAAA	0.423																																																	0																																												101060455																															16.37:g.30309792G>A				RNA	SNP	-	NULL	ENST00000411546.3	37	NULL		16																																																																																			RP11-347C12.2	-	-		0.423	RP11-347C12.2-003	KNOWN	basic	processed_transcript	LOC101060455	Clone_based_vega_gene	pseudogene	OTTHUMT00000434110.1	G			30309792	-1	no_errors	ENST00000411546	ensembl	human	known	70_37	rna	SNP	1.000	A
LINC01623	401242	genome.wustl.edu	37	6	28829679	28829679	+	lincRNA	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:28829679C>A	ENST00000440244.1	-	0	180					NR_033379.1																						AAGCCCGAGTCATCACTGAGA	0.537																																																	0																																												401242																															6.37:g.28829679C>A				RNA	SNP	-	NULL	ENST00000440244.1	37	NULL		6																																																																																			XXbac-BPG308K3.6	-	-		0.537	XXbac-BPG308K3.6-001	KNOWN	basic	lincRNA	LOC401242	Clone_based_vega_gene	lincRNA	OTTHUMT00000192594.1	C			28829679	-1	no_errors	ENST00000440244	ensembl	human	known	70_37	rna	SNP	1.000	A
LPIN2	9663	genome.wustl.edu	37	18	2937846	2937846	+	Missense_Mutation	SNP	C	C	T	rs532359167		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:2937846C>T	ENST00000261596.4	-	7	1250	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	338					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GATGTTGGGTCGCTCATCTGT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15972	0.0		0.0	False		,,,				2504	0.0																0													139.0	123.0	128.0					18																	2937846		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1012G>A	18.37:g.2937846C>T	ENSP00000261596:p.Asp338Asn		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.D338N	ENST00000261596.4	37	c.1012	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929260	0.18131	.	.	ENSG00000101577	ENST00000261596	T	0.80304	-1.36	5.74	3.96	0.45880	.	1.241970	0.04923	N	0.455292	T	0.66587	0.2804	N	0.12887	0.27	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.51671	-0.8676	10	0.16420	T	0.52	-4.2313	9.1478	0.36944	0.0:0.7769:0.0:0.2231	.	338	Q92539	LPIN2_HUMAN	N	338	ENSP00000261596:D338N	ENSP00000261596:D338N	D	-	1	0	LPIN2	2927846	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.150000	0.10189	0.777000	0.33496	0.655000	0.94253	GAC	LPIN2	-	NULL		0.507	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2937846	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	0.000	T
LPO	4025	genome.wustl.edu	37	17	56332227	56332227	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56332227C>T	ENST00000262290.4	+	9	1477	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	LPO_ENST00000543544.1_Silent_p.L328L|LPO_ENST00000582328.1_Silent_p.L304L|LPO_ENST00000421678.2_Silent_p.L304L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	387					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCCTCTTTCTCCGCGAGCATA	0.557																																																	0													98.0	98.0	98.0					17																	56332227		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1161C>T	17.37:g.56332227C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L387	ENST00000262290.4	37	c.1161	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56332227	+1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141643896	141643896	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:141643896C>T	ENST00000389484.3	-	24	4746	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1259					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)	p.E1259*(1)|p.E1259K(1)		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)		ATGAATGCTTCAAAAGGATCT	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)											48.0	49.0	49.0					2																	141643896		2203	4300	6503	SO:0001583	missense	53353			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.3775G>A	2.37:g.141643896C>T	ENSP00000374135:p.Glu1259Lys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1259K	ENST00000389484.3	37	c.3775	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479156	0.44044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.93247	-2.58;-3.19	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	L	0.35593	1.075	0.58432	D	0.999999	B;D	0.67145	0.058;0.996	B;P	0.57620	0.047;0.824	D	0.89868	0.4021	10	0.12430	T	0.62	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	442;1259	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1259;1197;404	ENSP00000374135:E1259K;ENSP00000413239:E404K	ENSP00000374135:E1259K	E	-	1	0	LRP1B	141360366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.797000	0.62503	2.730000	0.93505	0.650000	0.86243	GAA	LRP1B	-	NULL		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141643896	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP4K4	9448	genome.wustl.edu	37	2	102483733	102483733	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:102483733G>A	ENST00000347699.4	+	19	2182	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	MAP4K4_ENST00000413150.2_Missense_Mutation_p.E643K|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E528K|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E644K|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E697K|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E701K|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E527K|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E806K	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	728					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAAAAACCTGAAGATAAAAA	0.408																																																	0													84.0	81.0	82.0					2																	102483733		1856	4111	5967	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2182G>A	2.37:g.102483733G>A	ENSP00000314363:p.Glu728Lys		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E806K	ENST00000347699.4	37	c.2416	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959537	0.74016	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.55	5.55	0.83447	.	0.232716	0.42420	D	0.000706	T	0.17662	0.0424	L	0.52126	1.63	0.52501	D	0.999958	P;B;P;P;B;P;D;B;P;B	0.58620	0.455;0.139;0.716;0.455;0.218;0.874;0.983;0.218;0.745;0.383	B;B;B;B;B;B;P;B;P;B	0.46796	0.076;0.038;0.153;0.052;0.083;0.391;0.527;0.083;0.458;0.237	T	0.00577	-1.1662	10	0.36615	T	0.2	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	701;721;527;528;643;728;697;644;697;806	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	K	697;806;644;528;643;527;728;659;701	ENSP00000392830:E697K;ENSP00000313644:E806K;ENSP00000281111:E644K;ENSP00000303600:E528K;ENSP00000389752:E643K;ENSP00000387370:E527K;ENSP00000314363:E728K;ENSP00000409720:E659K;ENSP00000343658:E701K	ENSP00000303600:E528K	E	+	1	0	MAP4K4	101850165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.692000	0.91284	2.612000	0.88384	0.655000	0.94253	GAA	MAP4K4	-	NULL		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	G	NM_004834		102483733	+1	no_errors	ENST00000324219	ensembl	human	known	70_37	missense	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170066032	170066032	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:170066032G>C	ENST00000263816.3	-	38	6685	c.6400C>G	c.(6400-6402)Ctg>Gtg	p.L2134V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2134					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGTTCATCAGAGAAGATCCA	0.413																																																	0													161.0	153.0	156.0					2																	170066032		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6400C>G	2.37:g.170066032G>C	ENSP00000263816:p.Leu2134Val		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L2134V	ENST00000263816.3	37	c.6400	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	8.429	0.848143	0.17034	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	6.03	4.85	0.62838	Six-bladed beta-propeller, TolB-like (1);	0.167364	0.56097	D	0.000034	T	0.75925	0.3916	N	0.04820	-0.15	0.80722	D	1	B	0.31910	0.346	B	0.27380	0.079	T	0.66980	-0.5786	10	0.14656	T	0.56	.	8.2664	0.31817	0.8162:0.0:0.0644:0.1193	.	2134	P98164	LRP2_HUMAN	V	2134	ENSP00000263816:L2134V	ENSP00000263816:L2134V	L	-	1	2	LRP2	169774278	1.000000	0.71417	0.003000	0.11579	0.478000	0.33099	7.476000	0.81055	0.486000	0.27676	-0.254000	0.11334	CTG	LRP2	-	smart_LDLR_classB_rpt		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170066032	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.993	C
MAP7D2	256714	genome.wustl.edu	37	X	20082889	20082889	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:20082889C>G	ENST00000379651.3	-	2	183	c.165G>C	c.(163-165)caG>caC	p.Q55H	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q55H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q55H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q11H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	55					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGGCCAATCTCTGCCTCTCAT	0.403																																																	0													222.0	166.0	185.0					X																	20082889		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.165G>C	X.37:g.20082889C>G	ENSP00000368972:p.Gln55His		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.Q55H	ENST00000379651.3	37	c.165	CCDS14195.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.292079|2.292079	0.40594|0.40594	.|.	.|.	ENSG00000184368|ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000452324;ENST00000330274|ENST00000544957	T;T;T;T|.	0.09073|.	3.02;3.02;3.02;3.02|.	5.26|5.26	-3.12|-3.12	0.05282|0.05282	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.52175|0.52175	0.1718|0.1718	L|L	0.42008|0.42008	1.315|1.315	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.998;1.0|.	D;D;D;D;D|.	0.80764|.	0.986;0.989;0.994;0.969;0.986|.	T|T	0.48127|0.48127	-0.9062|-0.9062	10|5	0.39692|.	T|.	0.17|.	-22.4501|-22.4501	11.3331|11.3331	0.49487|0.49487	0.0:0.4691:0.0:0.5309|0.0:0.4691:0.0:0.5309	.|.	55;11;55;55;55|.	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17|.	.;.;.;.;MA7D2_HUMAN|.	H|T	55;55;55;11;55|4	ENSP00000368972:Q55H;ENSP00000368964:Q55H;ENSP00000388239:Q55H;ENSP00000413301:Q11H|.	ENSP00000332677:Q55H|.	Q|R	-|-	3|2	2|0	MAP7D2|MAP7D2	19992810|19992810	0.983000|0.983000	0.35010|0.35010	0.976000|0.976000	0.42696|0.42696	0.924000|0.924000	0.55760|0.55760	0.032000|0.032000	0.13732|0.13732	-0.654000|-0.654000	0.05394|0.05394	-0.881000|-0.881000	0.02953|0.02953	CAG|AGA	MAP7D2	-	NULL		0.403	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20082889	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	0.992	G
MBD6	114785	genome.wustl.edu	37	12	57919782	57919782	+	Missense_Mutation	SNP	G	G	A	rs371668485		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:57919782G>A	ENST00000355673.3	+	6	1387	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	MBD6_ENST00000431731.2_Missense_Mutation_p.R344Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	344	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTACAGGGCCGAAGGCCCCGT	0.637																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	39.0	38.0		1031	3.3	1.0	12		38	0,8600		0,0,4300	no	missense	MBD6	NM_052897.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	344/1004	57919782	1,13005	2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1031G>A	12.37:g.57919782G>A	ENSP00000347896:p.Arg344Gln		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.R344Q	ENST00000355673.3	37	c.1031	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	g	15.29	2.791159	0.50102	2.27E-4	0.0	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.24	3.34	0.38264	.	0.825865	0.09871	N	0.744825	T	0.29321	0.0730	N	0.08118	0	0.28250	N	0.925284	D;D	0.67145	0.996;0.996	P;P	0.53549	0.729;0.644	T	0.12372	-1.0550	8	.	.	.	-0.5017	9.6755	0.40039	0.1003:0.0:0.8997:0.0	.	344;344	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Q	344	.	.	R	+	2	0	MBD6	56206049	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.539000	0.36104	1.125000	0.41998	0.556000	0.70494	CGA	MBD6	-	NULL		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919782	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	1.000	A
MDH2	4191	genome.wustl.edu	37	7	75677414	75677414	+	5'UTR	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:75677414C>T	ENST00000315758.5	+	0	30				STYXL1_ENST00000431581.1_5'Flank|MDH2_ENST00000443006.1_5'UTR|STYXL1_ENST00000248600.1_5'Flank|STYXL1_ENST00000360591.3_5'Flank|STYXL1_ENST00000451157.1_5'Flank|STYXL1_ENST00000460184.2_5'Flank|MDH2_ENST00000432020.2_5'Flank|MDH2_ENST00000461263.2_5'UTR|STYXL1_ENST00000359697.3_5'Flank|STYXL1_ENST00000340062.5_5'Flank	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GTGTGGAGGTCGTTGGAGTCA	0.697																																																	0													5.0	8.0	7.0					7																	75677414		667	1551	2218	SO:0001623	5_prime_UTR_variant	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.-65C>T	7.37:g.75677414C>T			A8K414|B2RE78|B4DE44|E9PDB2|O43682	RNA	SNP	-	NULL	ENST00000315758.5	37	NULL	CCDS5581.1	7																																																																																			MDH2	-	-		0.697	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1	C			75677414	+1	no_errors	ENST00000461263	ensembl	human	putative	70_37	rna	SNP	1.000	T
METTL3	56339	genome.wustl.edu	37	14	21971383	21971383	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:21971383G>A	ENST00000298717.4	-	3	807	c.656C>T	c.(655-657)tCa>tTa	p.S219L	METTL3_ENST00000538267.1_Nonsense_Mutation_p.Q148*	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	219					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATCAACATCTGAGGCAGCATG	0.468																																																	0													171.0	159.0	163.0					14																	21971383		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.656C>T	14.37:g.21971383G>A	ENSP00000298717:p.Ser219Leu		O14736|Q86V05|Q9HB32	Nonsense_Mutation	SNP	NULL	p.Q148*	ENST00000298717.4	37	c.442	CCDS32044.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.866800|4.866800	0.91511|0.91511	.|.	.|.	ENSG00000165819|ENSG00000165819	ENST00000538267|ENST00000298717	.|T	.|0.31510	.|1.49	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.34077	.|0.0885	N|N	0.08118|0.08118	0|0	0.45930|0.45930	A|A	0.998764|0.998764	.|D;D;B	.|0.76494	.|0.999;0.999;0.152	.|D;D;B	.|0.78314	.|0.991;0.991;0.021	.|T	.|0.32719	.|-0.9896	.|9	0.87932|0.23302	D|T	0|0.38	-2.5437|-2.5437	16.1277|16.1277	0.81406|0.81406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;219;219	.|B4E2F6;B4DTN4;Q86U44	.|.;.;MTA70_HUMAN	X|L	148|219	.|ENSP00000298717:S219L	ENSP00000442407:Q148X|ENSP00000298717:S219L	Q|S	-|-	1|2	0|0	METTL3|METTL3	21041223|21041223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.691000|7.691000	0.84191|0.84191	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	CAG|TCA	METTL3	-	NULL		0.468	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	HGNC	protein_coding	OTTHUMT00000401227.1	G	NM_019852		21971383	-1	no_errors	ENST00000537163	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MIR363	574031	genome.wustl.edu	37	X	133303739	133303739	+	RNA	SNP	A	A	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:133303739A>C	ENST00000384840.1	-	0	0				MIR19B2_ENST00000385077.2_RNA|MIR20B_ENST00000384977.1_RNA|MIR18B_ENST00000454574.2_RNA|MIR106A_ENST00000384870.1_RNA|MIR92A2_ENST00000385299.1_RNA	NR_029852.1				microRNA 363																		TTGCACAGCCACATATACATA	0.388																																																	0													142.0	117.0	125.0					X																	133303739		1568	3582	5150			406981					Xq26.2	2012-03-12		2008-12-18	ENSG00000207572	ENSG00000207572		"""ncRNAs / Micro RNAs"""	32023	non-coding RNA	RNA, micro				MIRN363			Standard	NR_029852		Approved	hsa-mir-363, MIR-363	uc022ceb.1				X.37:g.133303739A>C				RNA	SNP	-	NULL	ENST00000384840.1	37	NULL		X																																																																																			MIR19B2	-	-		0.388	MIR363-201	KNOWN	basic	miRNA	MIR19B2	HGNC	miRNA		A	NR_029852		133303739	-1	no_errors	ENST00000385077	ensembl	human	known	70_37	rna	SNP	0.014	C
MT-ND2	4536	genome.wustl.edu	37	M	2199	2199	+	5'Flank	SNP	A	A	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrM:2199A>G	ENST00000361453.3	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TI_ENST00000387365.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CACCAATTAAGAAAGCGTTCA	0.398																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2199A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.398	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		A	YP_003024027		2199	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	G
MT-ND2	4536	genome.wustl.edu	37	M	2436	2436	+	5'Flank	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrM:2436G>A	ENST00000361453.3	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TI_ENST00000387365.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AACCCAACACAGGCATGCTCA	0.413																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2436G>A	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.413	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024027		2436	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
KMT2D	8085	genome.wustl.edu	37	12	49420844	49420844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49420844C>A	ENST00000301067.7	-	48	14904	c.14905G>T	c.(14905-14907)Gaa>Taa	p.E4969*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4969	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCACCTTCTTCAGGGGGCCGG	0.642																																																	0													61.0	68.0	66.0					12																	49420844		1919	4131	6050	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14905G>T	12.37:g.49420844C>A	ENSP00000301067:p.Glu4969*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4969*	ENST00000301067.7	37	c.14905	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	55	24.167059	0.99959	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.89	3.89	0.44902	.	0.224072	0.22902	N	0.054254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1821	0.72968	0.0:1.0:0.0:0.0	.	.	.	.	X	4969	.	ENSP00000301067:E4969X	E	-	1	0	MLL2	47707111	0.999000	0.42202	0.999000	0.59377	0.991000	0.79684	4.512000	0.60469	2.181000	0.69327	0.563000	0.77884	GAA	MLL2	-	NULL		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420844	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49434256	49434256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49434256C>A	ENST00000301067.7	-	31	7296	c.7297G>T	c.(7297-7299)Gaa>Taa	p.E2433*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2433	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAAAAAGCTTCAGCAGACAGA	0.627																																																	0													36.0	41.0	39.0					12																	49434256		2106	4231	6337	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7297G>T	12.37:g.49434256C>A	ENSP00000301067:p.Glu2433*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E2433*	ENST00000301067.7	37	c.7297	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	48	14.043711	0.99776	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.37955	N	0.001873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:1.0:0.0:0.0	.	.	.	.	X	2433	.	ENSP00000301067:E2433X	E	-	1	0	MLL2	47720523	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.566000	0.82347	2.596000	0.87737	0.591000	0.81541	GAA	MLL2	-	NULL		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49434256	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49437523	49437523	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49437523C>T	ENST00000301067.7	-	23	5361	c.5362G>A	c.(5362-5364)Gcc>Acc	p.A1788T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1788					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAAAAAGGGCCTTACGGCTC	0.572											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	63.0	63.0					12																	49437523		1914	4144	6058	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5362G>A	12.37:g.49437523C>T	ENSP00000301067:p.Ala1788Thr	962	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A1788T	ENST00000301067.7	37	c.5362	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017651	0.54576	.	.	ENSG00000167548	ENST00000301067	D	0.83075	-1.68	5.49	5.49	0.81192	.	0.239752	0.21779	N	0.069224	T	0.81706	0.4879	N	0.25890	0.77	0.50313	D	0.999868	D	0.56746	0.977	P	0.50352	0.638	D	0.84431	0.0577	10	0.87932	D	0	.	18.1483	0.89665	0.0:1.0:0.0:0.0	.	1788	O14686	MLL2_HUMAN	T	1788	ENSP00000301067:A1788T	ENSP00000301067:A1788T	A	-	1	0	MLL2	47723790	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.607000	0.54102	2.564000	0.86499	0.563000	0.77884	GCC	MLL2	-	NULL		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49437523	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151860728	151860728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:151860728G>A	ENST00000262189.6	-	43	10152	c.9934C>T	c.(9934-9936)Cag>Tag	p.Q3312*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3312*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3312	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q3312*(2)									TGCTGGTGCTGAAGCTGCTGT	0.572																																																	2	Substitution - Nonsense(2)	biliary_tract(2)											149.0	124.0	132.0					7																	151860728		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9934C>T	7.37:g.151860728G>A	ENSP00000262189:p.Gln3312*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3312*	ENST00000262189.6	37	c.9934	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.438130|20.438130	0.99930|0.99930	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.195128|.	0.25792|.	N|.	0.028267|.	.|T	.|0.74176	.|0.3682	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73871	.|-0.3846	.|4	0.02654|.	T|.	1|.	.|.	18.2295|18.2295	0.89929|0.89929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3312|817	.|.	ENSP00000262189:Q3312X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151491661|151491661	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.994000|0.994000	0.84299|0.84299	9.109000|9.109000	0.94291|0.94291	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CAG|TCA	MLL3	-	NULL		0.572	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151860728	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MPHOSPH10	10199	genome.wustl.edu	37	2	71371643	71371643	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:71371643C>T	ENST00000244230.2	+	8	1884	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	511					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GATGCCCTCTCAAACTTCCAC	0.393																																																	0													109.0	99.0	102.0					2																	71371643		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1532C>T	2.37:g.71371643C>T	ENSP00000244230:p.Ser511Leu		A0AVJ8	Missense_Mutation	SNP	pfam_Mpp10,pirsf_snoRNP_Mpp10	p.S511L	ENST00000244230.2	37	c.1532	CCDS1916.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.117842	0.94385	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.16196	2.36;2.36	5.58	5.58	0.84498	.	0.116139	0.64402	D	0.000011	T	0.48352	0.1495	M	0.88906	2.99	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.55302	-0.8162	10	0.87932	D	0	.	17.4466	0.87579	0.0:1.0:0.0:0.0	.	511	O00566	MPP10_HUMAN	L	511;371	ENSP00000244230:S511L;ENSP00000393034:S371L	ENSP00000244230:S511L	S	+	2	0	MPHOSPH10	71225151	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	4.387000	0.59626	2.794000	0.96219	0.655000	0.94253	TCA	MPHOSPH10	-	pfam_Mpp10,pirsf_snoRNP_Mpp10		0.393	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	HGNC	protein_coding	OTTHUMT00000251924.2	C	NM_005791		71371643	+1	no_errors	ENST00000244230	ensembl	human	known	70_37	missense	SNP	1.000	T
MPPE1	65258	genome.wustl.edu	37	18	11884271	11884271	+	3'UTR	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:11884271G>A	ENST00000588072.1	-	0	2585				GNAL_ENST00000334049.6_3'UTR|MPPE1_ENST00000344987.7_3'UTR|MPPE1_ENST00000317235.7_3'UTR|MPPE1_ENST00000592755.1_5'UTR|MPPE1_ENST00000309976.9_3'UTR	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1						ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TTTATAGCATGAGAACAGTAC	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.*173C>T	18.37:g.11884271G>A			B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	RNA	SNP	-	NULL	ENST00000588072.1	37	NULL	CCDS11853.1	18																																																																																			MPPE1	-	-		0.353	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	G	NM_023075		11884271	-1	no_errors	ENST00000592755	ensembl	human	putative	70_37	rna	SNP	1.000	A
MRPS9	64965	genome.wustl.edu	37	2	105654622	105654622	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:105654622C>T	ENST00000258455.3	+	1	182	c.72C>T	c.(70-72)ctC>ctT	p.L24L	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	24					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGGGTAGCCTCGCCCGGAAGC	0.617																																																	0													32.0	31.0	31.0					2																	105654622		2203	4300	6503	SO:0001819	synonymous_variant	64965				CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.72C>T	2.37:g.105654622C>T			Q6PG40	Silent	SNP	pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold	p.L24	ENST00000258455.3	37	c.72	CCDS2065.1	2																																																																																			MRPS9	-	NULL		0.617	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS9	HGNC	protein_coding	OTTHUMT00000253352.1	C	NM_182640		105654622	+1	no_errors	ENST00000258455	ensembl	human	known	70_37	silent	SNP	0.000	T
MST1L	11223	genome.wustl.edu	37	1	17085872	17085872	+	RNA	SNP	A	A	G	rs1806514		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:17085872A>G	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.W307R(1)|p.W317R(1)									TCGAGGTTCCAGCAGAAGTTC	0.662																																																	2	Substitution - Missense(2)	prostate(2)																																										11223			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085872A>G			B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.W317R	ENST00000455405.2	37	c.949		1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.910101	0.00508	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.000000	0.37857	N	0.001920	T	0.10809	0.0264	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	6	0.02654	T	1	.	2.1243	0.03734	0.4998:2.0E-4:2.0E-4:0.4998	rs1806514;rs2021016;rs2761537;rs3982178;rs61595267	317	Q2TV78-2	.	R	307;317;317	.	ENSP00000439273:W317R	W	-	1	0	MST1P9	16958459	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.935000	0.40173	-0.000000	0.14550	0.000000	0.15137	TGG	MST1L	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.662	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1	A	NM_001271733		17085872	-1	no_errors	ENST00000334998	ensembl	human	known	70_37	missense	SNP	1.000	G
MTFR1	9650	genome.wustl.edu	37	8	66619462	66619462	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:66619462G>A	ENST00000262146.4	+	6	861	c.735G>A	c.(733-735)atG>atA	p.M245I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.M212I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	245	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTAAAGAGATGAACAGTGTAA	0.388																																																	0													91.0	88.0	89.0					8																	66619462		2203	4300	6503	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.735G>A	8.37:g.66619462G>A	ENSP00000262146:p.Met245Ile		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.M245I	ENST00000262146.4	37	c.735	CCDS6182.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.403226|4.403226	0.83230|0.83230	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000527155|ENST00000518609;ENST00000262146;ENST00000458689;ENST00000521247	.|T;T;T	.|0.51574	.|0.7;0.7;0.7	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.037391	.|0.85682	.|D	.|0.000000	T|T	0.67116|0.67116	0.2859|0.2859	M|M	0.69248|0.69248	2.105|2.105	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;D;P	.|0.67145	.|0.987;0.943;0.996;0.926	.|D;P;P;P	.|0.68039	.|0.955;0.896;0.88;0.729	T|T	0.66077|0.66077	-0.6013|-0.6013	5|10	.|0.42905	.|T	.|0.14	-5.0811|-5.0811	19.1023|19.1023	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|245;229;212;245	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	K|I	59|229;245;212;61	.|ENSP00000262146:M245I;ENSP00000391502:M212I;ENSP00000429253:M61I	.|ENSP00000262146:M245I	E|M	+|+	1|3	0|0	MTFR1|MTFR1	66782016|66782016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.398000|4.398000	0.59697|0.59697	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	GAA|ATG	MTFR1	-	pfam_Mtfr1		0.388	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	G	NM_014637		66619462	+1	no_errors	ENST00000262146	ensembl	human	known	70_37	missense	SNP	1.000	A
MTMR3	8897	genome.wustl.edu	37	22	30414060	30414060	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:30414060C>T	ENST00000401950.2	+	16	2161	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Splice_Site_p.R471W|MTMR3_ENST00000351488.3_Splice_Site_p.R607W|MTMR3_ENST00000333027.3_Splice_Site_p.R607W|MTMR3_ENST00000406629.1_Splice_Site_p.R607W|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	607					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCCCTGAGCCGGTGAGCCCA	0.622																																																	0													57.0	48.0	51.0					22																	30414060		2203	4300	6503	SO:0001630	splice_region_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1820+1C>T	22.37:g.30414060C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R607W	ENST00000401950.2	37	c.1819	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313609	0.81358	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94376	-3.2;-3.18;-3.41;-3.23;-3.18	5.73	4.68	0.58851	.	0.106561	0.64402	D	0.000008	D	0.95793	0.8631	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.992	D	0.95433	0.8518	10	0.87932	D	0	.	11.041	0.47831	0.3566:0.6434:0.0:0.0	.	607;607;607	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	W	607;607;471;607;607	ENSP00000384651:R607W;ENSP00000331649:R607W;ENSP00000318070:R471W;ENSP00000307271:R607W;ENSP00000384077:R607W	ENSP00000318070:R471W	R	+	1	2	MTMR3	28744060	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.311000	0.72835	2.713000	0.92767	0.591000	0.81541	CGG	MTMR3	-	NULL		0.622	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	C	NM_021090	Missense_Mutation	30414060	+1	no_errors	ENST00000401950	ensembl	human	known	70_37	missense	SNP	1.000	T
MTMR4	9110	genome.wustl.edu	37	17	56582214	56582214	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56582214C>G	ENST00000323456.5	-	12	1349	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	MTMR4_ENST00000579925.1_Missense_Mutation_p.D409H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	409	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCAGCCATCTGAGCAGTGT	0.532																																																	0													125.0	116.0	119.0					17																	56582214		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1225G>C	17.37:g.56582214C>G	ENSP00000325285:p.Asp409His		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.D409H	ENST00000323456.5	37	c.1225	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602680	0.87157	.	.	ENSG00000108389	ENST00000323456	D	0.95205	-3.64	5.58	5.58	0.84498	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.9118	0.92489	0.0:1.0:0.0:0.0	.	409	Q9NYA4	MTMR4_HUMAN	H	409	ENSP00000325285:D409H	ENSP00000325285:D409H	D	-	1	0	MTMR4	53937213	1.000000	0.71417	0.195000	0.23364	0.724000	0.41520	7.776000	0.85560	2.790000	0.95986	0.591000	0.81541	GAT	MTMR4	-	pfscan_Tyr/Dual-specificity_Pase		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	C	NM_004687		56582214	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	missense	SNP	0.998	G
MUC12	10071	genome.wustl.edu	37	7	100634472	100634472	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:100634472G>A	ENST00000379442.3	+	5	1057	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	MUC12_ENST00000536621.1_Missense_Mutation_p.G210S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	353	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACTGTCCCCTGGCACTACCAC	0.542																																																	0													349.0	286.0	305.0					7																	100634472		692	1591	2283	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1057G>A	7.37:g.100634472G>A	ENSP00000368755:p.Gly353Ser		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.G353S	ENST00000379442.3	37	c.1057		7	.	.	.	.	.	.	.	.	.	.	-	8.188	0.795275	0.16327	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.15952	2.38;2.38	0.713	0.713	0.18173	.	.	.	.	.	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40646	-0.9552	7	0.05620	T	0.96	.	4.5739	0.12223	0.0:0.4172:0.5827:1.0E-4	.	.	.	.	S	353;210	ENSP00000368755:G353S;ENSP00000441929:G210S	ENSP00000368755:G353S	G	+	1	0	MUC12	100421192	0.010000	0.17322	0.001000	0.08648	0.039000	0.13416	0.937000	0.28951	0.673000	0.31224	0.184000	0.17185	GGC	MUC12	-	NULL		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	G	XM_379904		100634472	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.001	A
MVP	9961	genome.wustl.edu	37	16	29859269	29859269	+	Missense_Mutation	SNP	C	C	G	rs573639782		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:29859269C>G	ENST00000357402.5	+	15	2779	c.2641C>G	c.(2641-2643)Caa>Gaa	p.Q881E	MVP_ENST00000395353.1_Missense_Mutation_p.Q881E	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	881					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGGCCCCTCAAGCTCCTGG	0.582																																																	0													41.0	45.0	44.0					16																	29859269		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2641C>G	16.37:g.29859269C>G	ENSP00000349977:p.Gln881Glu		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.Q881E	ENST00000357402.5	37	c.2641	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123950	0.20959	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.30981	1.51;1.51	4.96	-0.679	0.11350	.	1.315340	0.05435	N	0.546650	T	0.15305	0.0369	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.08179	T	0.78	-4.4774	1.4309	0.02333	0.2585:0.3315:0.2529:0.1571	.	881	Q14764	MVP_HUMAN	E	881	ENSP00000349977:Q881E;ENSP00000378760:Q881E	ENSP00000349977:Q881E	Q	+	1	0	MVP	29766770	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.418000	0.07080	-0.154000	0.11118	-0.256000	0.11100	CAA	MVP	-	NULL		0.582	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	C	NM_005115		29859269	+1	no_errors	ENST00000357402	ensembl	human	known	70_37	missense	SNP	0.000	G
MYH7	4625	genome.wustl.edu	37	14	23884676	23884676	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:23884676C>T	ENST00000355349.3	-	36	5359	c.5197G>A	c.(5197-5199)Gac>Aac	p.D1733N	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1733					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGGACAGGTCAGCATCCATC	0.547																																																	0													157.0	123.0	134.0					14																	23884676		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5197G>A	14.37:g.23884676C>T	ENSP00000347507:p.Asp1733Asn		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1733N	ENST00000355349.3	37	c.5197	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039920	0.75732	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85171	-1.95	5.41	5.41	0.78517	Myosin tail (1);	.	.	.	.	D	0.94686	0.8286	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95413	0.8500	9	0.87932	D	0	.	19.3981	0.94617	0.0:1.0:0.0:0.0	.	1733	P12883	MYH7_HUMAN	N	1733;1738	ENSP00000347507:D1733N	ENSP00000347507:D1733N	D	-	1	0	MYH7	22954516	1.000000	0.71417	0.987000	0.45799	0.375000	0.29983	7.113000	0.77095	2.826000	0.97356	0.561000	0.74099	GAC	MYH7	-	pfam_Myosin_tail		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23884676	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO1H	283446	genome.wustl.edu	37	12	109878605	109878605	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:109878605C>T	ENST00000431443.2	+	24	2493	c.2493C>T	c.(2491-2493)cgC>cgT	p.R831R	MYO1H_ENST00000310903.5_Silent_p.R821R	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	831						myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGTACTGCCGCGGGATCACAG	0.567																																																	0													68.0	75.0	73.0					12																	109878605		2088	4192	6280	SO:0001819	synonymous_variant	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2493C>T	12.37:g.109878605C>T			F5H3C6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R831	ENST00000431443.2	37	c.2493		12																																																																																			MYO1H	-	NULL		0.567	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		C	NM_173597		109878605	+1	no_errors	ENST00000431443	ensembl	human	known	70_37	silent	SNP	0.000	T
NAA25	80018	genome.wustl.edu	37	12	112513503	112513503	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:112513503G>A	ENST00000261745.4	-	8	1003	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	252						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GAGGCGCCGGGAAAGGGCATT	0.418																																																	0													92.0	95.0	94.0					12																	112513503		2203	4300	6503	SO:0001583	missense	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.755C>T	12.37:g.112513503G>A	ENSP00000261745:p.Ser252Phe		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.S252F	ENST00000261745.4	37	c.755	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054320	0.36277	.	.	ENSG00000111300	ENST00000261745	T	0.23754	1.89	5.62	5.62	0.85841	.	0.057153	0.64402	D	0.000001	T	0.21468	0.0517	L	0.44542	1.39	0.58432	D	0.999999	P;P	0.35433	0.501;0.501	B;B	0.27500	0.08;0.08	T	0.05733	-1.0867	10	0.10377	T	0.69	-9.1254	19.6604	0.95864	0.0:0.0:1.0:0.0	.	252;252	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	252	ENSP00000261745:S252F	ENSP00000261745:S252F	S	-	2	0	NAA25	110997886	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.229000	0.95273	2.648000	0.89879	0.655000	0.94253	TCC	NAA25	-	NULL		0.418	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	G	NM_024953		112513503	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	missense	SNP	1.000	A
NBEAL1	65065	genome.wustl.edu	37	2	204074025	204074025	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:204074025G>A	ENST00000449802.1	+	52	8011	c.7678G>A	c.(7678-7680)Gaa>Aaa	p.E2560K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2560										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCCAGCACTGAAGAAAAGAC	0.423																																																	0													120.0	111.0	114.0					2																	204074025		1887	4118	6005	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7678G>A	2.37:g.204074025G>A	ENSP00000399903:p.Glu2560Lys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2560K	ENST00000449802.1	37	c.7678	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862776	0.71949	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.53423	0.62;1.56	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.64997	1.995	0.58432	D	0.999999	B;D;D	0.76494	0.34;0.999;0.998	B;D;D	0.77557	0.108;0.967;0.99	T	0.57694	-0.7767	10	0.07644	T	0.81	.	18.4683	0.90763	0.0:0.0:1.0:0.0	.	1270;2560;2549	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	K	2560;2470;575	ENSP00000399903:E2560K;ENSP00000388466:E575K	ENSP00000344985:E2470K	E	+	1	0	NBEAL1	203782270	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.954000	0.93051	2.461000	0.83175	0.460000	0.39030	GAA	NBEAL1	-	superfamily_WD40_repeat_dom		0.423	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			204074025	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	A
NBPF6	653149	genome.wustl.edu	37	1	109007929	109007929	+	Nonsense_Mutation	SNP	C	C	T	rs201429823		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:109007929C>T	ENST00000444143.2	+	13	1761	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	NBPF6_ENST00000294652.8_3'UTR|NBPF6_ENST00000495380.2_Nonsense_Mutation_p.R515*|NBPF6_ENST00000370040.3_Nonsense_Mutation_p.R544*			Q5VWK0	NBPF6_HUMAN	neuroblastoma breakpoint family, member 6	515						cytoplasm (GO:0005737)				endometrium(2)	2						CAGTTGTCTGCGACTACAGCT	0.582																																																	0													5.0	10.0	9.0					1																	109007929		445	1155	1600	SO:0001587	stop_gained	653149				CCDS44184.1	1p13.3	2013-01-17				ENSG00000186086		"""neuroblastoma breakpoint family"""	31988	protein-coding gene	gene with protein product		613996				16079250	Standard	NM_001143987		Approved		uc009wep.3	Q5VWK0	OTTHUMG00000039830	ENST00000444143.2:c.1543C>T	1.37:g.109007929C>T	ENSP00000402703:p.Arg515*		A4QN25	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.R544*	ENST00000444143.2	37	c.1630	CCDS44184.1	1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.942268	0.53079	.	.	ENSG00000186086	ENST00000444143;ENST00000412533;ENST00000370040;ENST00000495380;ENST00000531446	.	.	.	1.06	0.0812	0.14424	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5721	0.12216	0.3652:0.6348:0.0:0.0	.	.	.	.	X	515;544;544;515;544	.	ENSP00000359057:R544X	R	+	1	2	NBPF6	108809452	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.550000	0.00929	0.023000	0.15187	-1.807000	0.00615	CGA	NBPF6	-	NULL		0.582	NBPF6-203	KNOWN	basic|CCDS	protein_coding	NBPF6	HGNC	protein_coding	OTTHUMT00000276886.3	C	XM_926213		109007929	+1	no_errors	ENST00000370040	ensembl	human	known	70_37	nonsense	SNP	0.000	T
NCBP1	4686	genome.wustl.edu	37	9	100418318	100418318	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:100418318G>A	ENST00000375147.3	+	14	1580	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	442					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCAAGATCCTGAAAGTCCCAA	0.333																																					Ovarian(36;879 898 2893 44212 50307)												0													111.0	112.0	112.0					9																	100418318		2203	4300	6503	SO:0001583	missense	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1324G>A	9.37:g.100418318G>A	ENSP00000364289:p.Glu442Lys		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E442K	ENST00000375147.3	37	c.1324	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800720	0.70567	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.7	5.7	0.88788	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.152155	0.64402	D	0.000020	T	0.57403	0.2051	L	0.32530	0.975	0.80722	D	1	B	0.17465	0.022	B	0.29440	0.102	T	0.48703	-0.9012	9	0.29301	T	0.29	-12.2592	19.8195	0.96586	0.0:0.0:1.0:0.0	.	442	Q09161	NCBP1_HUMAN	K	442	.	ENSP00000364289:E442K	E	+	1	0	NCBP1	99458139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	2.861000	0.98227	0.655000	0.94253	GAA	NCBP1	-	pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold		0.333	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	G	NM_002486		100418318	+1	no_errors	ENST00000375147	ensembl	human	known	70_37	missense	SNP	1.000	A
NCOR2	9612	genome.wustl.edu	37	12	124886952	124886952	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:124886952G>C	ENST00000405201.1	-	14	1638	c.1638C>G	c.(1636-1638)ctC>ctG	p.L546L	NCOR2_ENST00000397355.1_Silent_p.L546L|NCOR2_ENST00000429285.2_Silent_p.L545L|NCOR2_ENST00000404621.1_Silent_p.L545L|NCOR2_ENST00000356219.3_Silent_p.L546L|NCOR2_ENST00000404121.2_Silent_p.L116L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	546					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)		TGCCTTACTTGAGGAGGTCTT	0.637																																																	0													106.0	129.0	122.0					12																	124886952		2122	4233	6355	SO:0001819	synonymous_variant	9612			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.1638C>G	12.37:g.124886952G>C			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L546	ENST00000405201.1	37	c.1638	CCDS41858.2	12																																																																																			NCOR2	-	NULL		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124886952	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	silent	SNP	0.890	C
NEURL1	9148	genome.wustl.edu	37	10	105330768	105330768	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:105330768C>T	ENST00000369780.4	+	2	634	c.225C>T	c.(223-225)ctC>ctT	p.L75L	NEURL_ENST00000369777.2_Silent_p.L58L	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		75	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCCAGATCCTCATGGACCTCA	0.642																																																	0													72.0	70.0	70.0					10																	105330768		2203	4300	6503	SO:0001819	synonymous_variant	9148																														ENST00000369780.4:c.225C>T	10.37:g.105330768C>T			Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.L75	ENST00000369780.4	37	c.225	CCDS7551.1	10																																																																																			NEURL	-	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z		0.642	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1	C			105330768	+1	no_errors	ENST00000369780	ensembl	human	known	70_37	silent	SNP	1.000	T
NHLRC3	387921	genome.wustl.edu	37	13	39616414	39616414	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:39616414G>C	ENST00000379600.3	+	4	880	c.558G>C	c.(556-558)ttG>ttC	p.L186F	NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	186						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATGGAGGATTGAATAACAGAT	0.308																																																	0													122.0	118.0	120.0					13																	39616414		2203	4300	6503	SO:0001583	missense	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.558G>C	13.37:g.39616414G>C	ENSP00000368920:p.Leu186Phe		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.L186F	ENST00000379600.3	37	c.558	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318388	0.60524	.	.	ENSG00000188811	ENST00000379600	T	0.47869	0.83	5.42	2.78	0.32641	Six-bladed beta-propeller, TolB-like (1);	0.284253	0.34777	N	0.003695	T	0.50309	0.1608	L	0.51422	1.61	0.80722	D	1	P;D	0.59767	0.947;0.986	P;P	0.54060	0.466;0.741	T	0.39121	-0.9629	9	.	.	.	-11.719	9.605	0.39628	0.2246:0.0:0.7754:0.0	.	186;186	Q5JS37;B4DRC8	NHLC3_HUMAN;.	F	186	ENSP00000368920:L186F	.	L	+	3	2	NHLRC3	38514414	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	3.293000	0.51779	0.270000	0.21984	0.563000	0.77884	TTG	NHLRC3	-	NULL		0.308	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	G	NM_001012754		39616414	+1	no_errors	ENST00000379600	ensembl	human	known	70_37	missense	SNP	0.998	C
NKTR	4820	genome.wustl.edu	37	3	42687388	42687388	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:42687388G>C	ENST00000232978.8	+	17	4498	c.4310G>C	c.(4309-4311)aGa>aCa	p.R1437T	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1437					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGGAGTTGTAGATCTTATGGC	0.358																																																	0													60.0	61.0	61.0					3																	42687388		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4310G>C	3.37:g.42687388G>C	ENSP00000232978:p.Arg1437Thr			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R1437T	ENST00000232978.8	37	c.4310	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620359	0.66787	.	.	ENSG00000114857	ENST00000232978	T	0.18502	2.21	5.85	5.85	0.93711	.	0.050522	0.64402	D	0.000001	T	0.44456	0.1294	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.22800	-1.0206	10	0.87932	D	0	-13.2491	20.1634	0.98142	0.0:0.0:1.0:0.0	.	1137;1437	Q6M1B8;P30414	.;NKTR_HUMAN	T	1437	ENSP00000232978:R1437T	ENSP00000232978:R1437T	R	+	2	0	NKTR	42662392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.116000	0.77119	2.773000	0.95371	0.655000	0.94253	AGA	NKTR	-	NULL		0.358	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42687388	+1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	C
NLGN4X	57502	genome.wustl.edu	37	X	5821630	5821630	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:5821630G>C	ENST00000381095.3	-	5	1716	c.1089C>G	c.(1087-1089)ctC>ctG	p.L363L	NLGN4X_ENST00000381092.1_Silent_p.L363L|NLGN4X_ENST00000275857.6_Silent_p.L363L|NLGN4X_ENST00000538097.1_Silent_p.L363L|NLGN4X_ENST00000381093.2_Silent_p.L383L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	363	Interaction with NRXN1.				adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTCGTAGTTGAGGAACTCGC	0.602																																																	0													42.0	33.0	36.0					X																	5821630		2203	4296	6499	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1089C>G	X.37:g.5821630G>C			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L383	ENST00000381095.3	37	c.1149	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB		0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821630	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.057	C
NLRC3	197358	genome.wustl.edu	37	16	3613354	3613354	+	RNA	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:3613354G>C	ENST00000301749.7	-	0	1989				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_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						AGCCGGCCAGGAGGGCATTGA	0.701																																																	0													7.0	9.0	8.0					16																	3613354		2070	4177	6247			197358			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.3613354G>C			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L575	ENST00000301749.7	37	c.1725		16																																																																																			NLRC3	-	NULL		0.701	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		G	NM_178844		3613354	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	silent	SNP	0.963	C
NOTCH1	4851	genome.wustl.edu	37	9	139402806	139402806	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:139402806C>T	ENST00000277541.6	-	20	3278	c.3203G>A	c.(3202-3204)tGc>tAc	p.C1068Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1068	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGTTCTTGCAGGGCGAGGA	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													94.0	114.0	107.0					9																	139402806		2102	4215	6317	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3203G>A	9.37:g.139402806C>T	ENSP00000277541:p.Cys1068Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1068Y	ENST00000277541.6	37	c.3203	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296083	0.81025	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.13	5.13	0.70059	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99991	1.4316	10	0.87932	D	0	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	1068	P46531	NOTC1_HUMAN	Y	1068	ENSP00000277541:C1068Y	ENSP00000277541:C1068Y	C	-	2	0	NOTCH1	138522627	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	7.391000	0.79828	2.382000	0.81193	0.655000	0.94253	TGC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139402806	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T
NOTCH4	4855	genome.wustl.edu	37	6	32178591	32178591	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:32178591C>T	ENST00000375023.3	-	18	2941	c.2803G>A	c.(2803-2805)Gag>Aag	p.E935K	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	935	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCTGGACTCACATGGGTTC	0.622																																																	0													75.0	74.0	74.0					6																	32178591		1510	2707	4217	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2803G>A	6.37:g.32178591C>T	ENSP00000364163:p.Glu935Lys		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.E935K	ENST00000375023.3	37	c.2803	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515946	0.27123	.	.	ENSG00000204301	ENST00000375023	D	0.88354	-2.37	4.9	2.07	0.26955	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.842298	0.10118	N	0.713845	T	0.57740	0.2074	N	0.26092	0.79	0.09310	N	0.999998	P	0.39424	0.673	B	0.37267	0.245	T	0.54754	-0.8246	10	0.08837	T	0.75	.	2.0253	0.03517	0.1602:0.5075:0.1557:0.1766	.	935	Q99466	NOTC4_HUMAN	K	935	ENSP00000364163:E935K	ENSP00000364163:E935K	E	-	1	0	NOTCH4	32286569	0.000000	0.05858	0.537000	0.28052	0.994000	0.84299	-0.315000	0.08081	0.233000	0.21120	0.563000	0.77884	GAG	NOTCH4	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32178591	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.046	T
NRARP	441478	genome.wustl.edu	37	9	140196233	140196233	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140196233C>T	ENST00000356628.2	-	1	470	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	50					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)			p.E50*(1)		lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		GTCTGGCCCTCGGGCCCGAAC	0.637																																																	1	Substitution - Nonsense(1)	lung(1)											49.0	38.0	42.0					9																	140196233		2202	4298	6500	SO:0001583	missense	441478				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.148G>A	9.37:g.140196233C>T	ENSP00000349041:p.Glu50Lys		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E50K	ENST00000356628.2	37	c.148	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.204494	0.95033	.	.	ENSG00000198435	ENST00000356628	T	0.33865	1.39	3.3	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.23649	0.0572	N	0.16368	0.405	0.58432	D	0.999991	D	0.62365	0.991	B	0.42653	0.394	T	0.09662	-1.0664	10	0.62326	D	0.03	.	12.1536	0.54064	0.0:1.0:0.0:0.0	.	50	Q7Z6K4	NRARP_HUMAN	K	50	ENSP00000349041:E50K	ENSP00000349041:E50K	E	-	1	0	NRARP	139316054	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	5.902000	0.69869	1.699000	0.51192	0.435000	0.28638	GAG	NRARP	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.637	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	C	NM_001004354		140196233	-1	no_errors	ENST00000356628	ensembl	human	known	70_37	missense	SNP	1.000	T
NRARP	441478	genome.wustl.edu	37	9	140196260	140196260	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140196260C>G	ENST00000356628.2	-	1	443	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	41					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		ACGTTGAACTCGCAGTTGGTC	0.642																																																	0													58.0	45.0	49.0					9																	140196260		2203	4300	6503	SO:0001583	missense	441478				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.121G>C	9.37:g.140196260C>G	ENSP00000349041:p.Glu41Gln		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E41Q	ENST00000356628.2	37	c.121	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288279	0.80803	.	.	ENSG00000198435	ENST00000356628	T	0.34859	1.34	3.3	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.24275	0.0588	L	0.34521	1.04	0.46901	D	0.999243	B	0.32620	0.378	B	0.25987	0.065	T	0.07252	-1.0782	10	0.28530	T	0.3	.	12.1536	0.54064	0.0:1.0:0.0:0.0	.	41	Q7Z6K4	NRARP_HUMAN	Q	41	ENSP00000349041:E41Q	ENSP00000349041:E41Q	E	-	1	0	NRARP	139316081	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.272000	0.58908	1.699000	0.51192	0.435000	0.28638	GAG	NRARP	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.642	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	C	NM_001004354		140196260	-1	no_errors	ENST00000356628	ensembl	human	known	70_37	missense	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107823359	107823359	+	Missense_Mutation	SNP	C	C	G	rs144556652	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:107823359C>G	ENST00000425651.2	-	20	2309	c.2310G>C	c.(2308-2310)ttG>ttC	p.L770F	NRCAM_ENST00000379024.4_Missense_Mutation_p.L751F|NRCAM_ENST00000379022.4_Missense_Mutation_p.L770F|NRCAM_ENST00000413765.2_Missense_Mutation_p.L751F|NRCAM_ENST00000351718.4_Missense_Mutation_p.L754F|NRCAM_ENST00000379028.3_Missense_Mutation_p.L770F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	770	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGAAACCATTCAAGGGCTACA	0.423																																																	0													54.0	51.0	52.0					7																	107823359		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2310G>C	7.37:g.107823359C>G	ENSP00000401244:p.Leu770Phe		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L770F	ENST00000425651.2	37	c.2310	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781115	0.70222	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.58	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.068381	0.64402	D	0.000012	T	0.70029	0.3177	M	0.84511	2.7	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.982;0.995;0.996;0.999;0.997	P;D;D;D;D	0.72625	0.868;0.962;0.978;0.978;0.96	T	0.73180	-0.4064	10	0.72032	D	0.01	.	6.4621	0.21962	0.0:0.7403:0.0:0.2597	.	770;751;751;754;770	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	F	770;770;751;770;754;751;770;770;754	ENSP00000368314:L770F;ENSP00000407858:L751F;ENSP00000325269:L754F;ENSP00000368310:L751F;ENSP00000401244:L770F;ENSP00000368308:L770F	ENSP00000325269:L754F	L	-	3	2	NRCAM	107610595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.891000	0.28309	2.602000	0.87976	0.650000	0.86243	TTG	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107823359	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	G
NUAK2	81788	genome.wustl.edu	37	1	205280879	205280879	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:205280879C>T	ENST00000367157.3	-	2	432	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGACATGATCTCAATCTCCC	0.483																																																	0													456.0	326.0	370.0					1																	205280879		2203	4300	6503	SO:0001819	synonymous_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.306G>A	1.37:g.205280879C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E102	ENST00000367157.3	37	c.306	CCDS1453.1	1																																																																																			NUAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.483	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	C	NM_030952		205280879	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	silent	SNP	1.000	T
NUBPL	80224	genome.wustl.edu	37	14	32315788	32315788	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:32315788G>C	ENST00000281081.7	+	9	850	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.E173Q	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	269					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CCTTGGTCTTGAAGTTCTAGG	0.438																																																	0													89.0	84.0	86.0					14																	32315788		1915	4123	6038	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.805G>C	14.37:g.32315788G>C	ENSP00000281081:p.Glu269Gln		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.E269Q	ENST00000281081.7	37	c.805	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	9.994	1.231725	0.22626	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.47177	0.85;0.96;0.96	5.56	5.56	0.83823	.	0.258500	0.44483	D	0.000442	T	0.38480	0.1042	L	0.33339	1.005	0.31564	N	0.657137	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.003	T	0.30416	-0.9979	10	0.17832	T	0.49	-26.4914	17.0258	0.86446	0.0:0.0:1.0:0.0	.	173;269	B4DWB0;Q8TB37	.;NUBPL_HUMAN	Q	135;269;173	ENSP00000447618:E135Q;ENSP00000281081:E269Q;ENSP00000439286:E173Q	ENSP00000281081:E269Q	E	+	1	0	NUBPL	31385539	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	3.312000	0.51927	2.621000	0.88768	0.655000	0.94253	GAA	NUBPL	-	NULL		0.438	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32315788	+1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	C
NUP210	23225	genome.wustl.edu	37	3	13381483	13381483	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:13381483G>A	ENST00000254508.5	-	25	3424	c.3342C>T	c.(3340-3342)atC>atT	p.I1114I	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1114					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTCATTGCTGATGGAGAAAA	0.652																																																	0													102.0	112.0	108.0					3																	13381483		2203	4300	6503	SO:0001819	synonymous_variant	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3342C>T	3.37:g.13381483G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.I1114	ENST00000254508.5	37	c.3342	CCDS33704.1	3																																																																																			NUP210	-	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2		0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	G	NM_024923		13381483	-1	no_errors	ENST00000254508	ensembl	human	known	70_37	silent	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228456235	228456235	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:228456235C>T	ENST00000422127.1	+	17	4910	c.4866C>T	c.(4864-4866)ccC>ccT	p.P1622P	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.P278P|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.P1806P|OBSCN_ENST00000284548.11_Silent_p.P1622P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1622	Ig-like 17.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCAGAGCCCAAGGTGGTGT	0.627																																																	0													35.0	35.0	35.0					1																	228456235		1992	4170	6162	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4866C>T	1.37:g.228456235C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.P1622	ENST00000422127.1	37	c.4866	CCDS58065.1	1																																																																																			OBSCN	-	pfscan_Ig-like		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228456235	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	silent	SNP	0.009	T
OBSCN	84033	genome.wustl.edu	37	1	228524810	228524810	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:228524810C>T	ENST00000422127.1	+	65	16687	c.16643C>T	c.(16642-16644)tCg>tTg	p.S5548L	OBSCN_ENST00000366707.4_Missense_Mutation_p.S3182L|OBSCN_ENST00000570156.2_Missense_Mutation_p.S6505L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S5548L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2667L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5548					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGATGGTATCGGCCAAGATC	0.642																																																	0													63.0	71.0	68.0					1																	228524810		2070	4209	6279	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16643C>T	1.37:g.228524810C>T	ENSP00000409493:p.Ser5548Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S5548L	ENST00000422127.1	37	c.16643	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.707400	0.96821	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70986	-0.31;-0.53;-0.48;-0.13	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000005	T	0.81898	0.4920	L	0.56769	1.78	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81409	-0.0946	10	0.44086	T	0.13	.	18.2245	0.89913	0.0:1.0:0.0:0.0	.	5548;5548	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	5548;5548;3182;2667	ENSP00000284548:S5548L;ENSP00000409493:S5548L;ENSP00000355668:S3182L;ENSP00000355670:S2667L	ENSP00000284548:S5548L	S	+	2	0	OBSCN	226591433	1.000000	0.71417	0.954000	0.39281	0.969000	0.65631	7.242000	0.78210	2.548000	0.85928	0.655000	0.94253	TCG	OBSCN	-	NULL		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228524810	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	T
OR10H4	126541	genome.wustl.edu	37	19	16060198	16060198	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:16060198C>T	ENST00000322107.1	+	1	381	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGTGGCCATCTGCCACCCAC	0.547																																																	0													264.0	224.0	238.0					19																	16060198		2203	4300	6503	SO:0001819	synonymous_variant	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.381C>T	19.37:g.16060198C>T			Q6IFJ2|Q96R57	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I127	ENST00000322107.1	37	c.381	CCDS32941.1	19																																																																																			OR10H4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	C			16060198	+1	no_errors	ENST00000322107	ensembl	human	known	70_37	silent	SNP	1.000	T
OR6K6	128371	genome.wustl.edu	37	1	158725553	158725553	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:158725553C>T	ENST00000368144.2	+	1	1044	c.948C>T	c.(946-948)atC>atT	p.I316I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACCCCATCATCTATAGCCTGA	0.443																																																	0													132.0	131.0	131.0					1																	158725553		2203	4300	6503	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.948C>T	1.37:g.158725553C>T			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I316	ENST00000368144.2	37	c.948	CCDS30904.1	1																																																																																			OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.443	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	C	NM_001005184		158725553	+1	no_errors	ENST00000368144	ensembl	human	known	70_37	silent	SNP	0.840	T
OSBPL1A	114876	genome.wustl.edu	37	18	21819247	21819247	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:21819247G>C	ENST00000319481.3	-	16	1587	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.L79V|OSBPL1A_ENST00000399443.3_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	461					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCTTTCACCAGAGACTGCTCT	0.473																																																	0													159.0	127.0	138.0					18																	21819247		2203	4300	6503	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1381C>G	18.37:g.21819247G>C	ENSP00000320291:p.Leu461Val		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L461V	ENST00000319481.3	37	c.1381	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708778	0.30322	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.46451	0.87;0.89	5.84	4.97	0.65823	.	0.803958	0.11079	N	0.601993	T	0.27697	0.0681	N	0.25426	0.745	0.80722	D	1	P;B	0.38020	0.615;0.06	B;B	0.29267	0.1;0.017	T	0.04900	-1.0919	10	0.09338	T	0.73	-4.9066	15.1054	0.72319	0.0682:0.0:0.9318:0.0	.	461;461	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	V	461;79	ENSP00000320291:L461V;ENSP00000349545:L79V	ENSP00000320291:L461V	L	-	1	2	OSBPL1A	20073245	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	3.965000	0.56788	1.467000	0.48044	-0.150000	0.13652	CTG	OSBPL1A	-	NULL		0.473	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	G	NM_080597		21819247	-1	no_errors	ENST00000319481	ensembl	human	known	70_37	missense	SNP	0.991	C
OSBPL7	114881	genome.wustl.edu	37	17	45886521	45886521	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:45886521G>A	ENST00000007414.3	-	20	2282	c.2091C>T	c.(2089-2091)gtC>gtT	p.V697V	OSBPL7_ENST00000392507.3_Silent_p.V697V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	697					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTCGGTGGAGGACACGGCCAC	0.632																																																	0													52.0	55.0	54.0					17																	45886521		2203	4300	6503	SO:0001819	synonymous_variant	114881			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2091C>T	17.37:g.45886521G>A			D3DTT6|Q6PIV6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V697	ENST00000007414.3	37	c.2091	CCDS11515.1	17																																																																																			OSBPL7	-	pfam_Oxysterol-bd		0.632	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	HGNC	protein_coding	OTTHUMT00000441367.1	G	NM_017731		45886521	-1	no_errors	ENST00000007414	ensembl	human	known	70_37	silent	SNP	0.991	A
PA2G4	5036	genome.wustl.edu	37	12	56504248	56504248	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:56504248C>G	ENST00000303305.6	+	8	1114	c.695C>G	c.(694-696)tCa>tGa	p.S232*	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Nonsense_Mutation_p.S232*	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	232					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CTCGTCAGCTCAGGAGAGGGC	0.418																																																	0													86.0	79.0	81.0					12																	56504248		2203	4300	6503	SO:0001587	stop_gained	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.695C>G	12.37:g.56504248C>G	ENSP00000302886:p.Ser232*		O43846|Q9UM59	Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.S232*	ENST00000303305.6	37	c.695	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.465740	0.98822	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	.	.	.	5.32	5.32	0.75619	.	0.174161	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.1254	0.89584	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;261;232;232	.	ENSP00000302886:S232X	S	+	2	0	PA2G4	54790515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.787000	0.62432	2.662000	0.90505	0.655000	0.94253	TCA	PA2G4	-	superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	C	NM_006191		56504248	+1	no_errors	ENST00000303305	ensembl	human	known	70_37	nonsense	SNP	1.000	G
AKAP2	11217	genome.wustl.edu	37	9	112898781	112898781	+	Silent	SNP	C	C	T	rs529639686		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:112898781C>T	ENST00000259318.7	+	2	471	c.264C>T	c.(262-264)ggC>ggT	p.G88G	AKAP2_ENST00000434623.2_Silent_p.G177G|AKAP2_ENST00000374525.1_Silent_p.G177G|AKAP2_ENST00000555236.1_Silent_p.G319G|AKAP2_ENST00000510514.5_Silent_p.G319G|PALM2-AKAP2_ENST00000302798.7_Silent_p.G319G|PALM2-AKAP2_ENST00000374530.3_Silent_p.G319G	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	88										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTGGTGGGCGGCCTAAGCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18962	0.001		0.0	False		,,,				2504	0.0																0													92.0	74.0	80.0					9																	112898781		2203	4300	6503	SO:0001819	synonymous_variant	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.264C>T	9.37:g.112898781C>T			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.G319	ENST00000259318.7	37	c.957	CCDS48003.1	9																																																																																			PALM2-AKAP2	-	NULL		0.582	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	C	NM_001004065		112898781	+1	no_errors	ENST00000374530	ensembl	human	known	70_37	silent	SNP	0.000	T
PAN2	9924	genome.wustl.edu	37	12	56722356	56722356	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:56722356C>T	ENST00000425394.2	-	3	728	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PAN2_ENST00000257931.5_Missense_Mutation_p.D118N|PAN2_ENST00000440411.3_Missense_Mutation_p.D118N|PAN2_ENST00000548043.1_Missense_Mutation_p.D118N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGCCGAATATCATCACTGCCA	0.463																																																	0													73.0	71.0	72.0					12																	56722356		2203	4300	6503	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.352G>A	12.37:g.56722356C>T	ENSP00000401721:p.Asp118Asn			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.D118N	ENST00000425394.2	37	c.352	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.106784	0.94292	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.07	5.07	0.68467	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.59436	1.845	0.80722	D	1	D;D;D	0.54207	0.965;0.965;0.964	P;P;B	0.49637	0.617;0.617;0.413	T	0.45702	-0.9243	10	0.39692	T	0.17	-23.9518	17.7659	0.88477	0.0:1.0:0.0:0.0	.	118;118;118	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	118	ENSP00000401721:D118N;ENSP00000388231:D118N;ENSP00000257931:D118N;ENSP00000449861:D118N	ENSP00000257931:D118N	D	-	1	0	PAN2	55008623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.803000	0.96430	0.650000	0.86243	GAT	PAN2	-	superfamily_WD40_repeat_dom		0.463	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	C	NM_014871		56722356	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	missense	SNP	1.000	T
PARD3	56288	genome.wustl.edu	37	10	34620159	34620159	+	Missense_Mutation	SNP	G	G	A	rs566752362		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:34620159G>A	ENST00000374789.3	-	19	3053	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	PARD3_ENST00000374794.3_Missense_Mutation_p.R835C|PARD3_ENST00000350537.4_Missense_Mutation_p.R864C|PARD3_ENST00000374776.1_Missense_Mutation_p.R864C|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000545260.1_Missense_Mutation_p.R820C|PARD3_ENST00000374773.1_Missense_Mutation_p.R877C|PARD3_ENST00000340077.5_Missense_Mutation_p.R907C|PARD3_ENST00000544292.1_Missense_Mutation_p.R623C|PARD3_ENST00000545693.1_Missense_Mutation_p.R894C|PARD3_ENST00000374790.3_Missense_Mutation_p.R850C|PARD3_ENST00000346874.4_Missense_Mutation_p.R910C|PARD3_ENST00000374788.3_Missense_Mutation_p.R907C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	910	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R910C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCCGTGGACGATGGAAAGGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14480	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											115.0	101.0	106.0					10																	34620159		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2728C>T	10.37:g.34620159G>A	ENSP00000363921:p.Arg910Cys		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R910C	ENST00000374789.3	37	c.2728	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756512	0.89843	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.999;1.0;0.999;0.995;0.991;0.998;0.999;1.0;0.998;1.0;1.0	T	0.68465	-0.5401	10	0.87932	D	0	.	19.8904	0.96928	0.0:0.0:1.0:0.0	.	835;820;864;864;894;910;907;910;850;894;877;907;864;876;623	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	894;820;910;907;910;835;864;850;864;907;877;623	ENSP00000443147:R894C;ENSP00000440857:R820C;ENSP00000363921:R910C;ENSP00000363920:R907C;ENSP00000340591:R910C;ENSP00000363926:R835C;ENSP00000311986:R864C;ENSP00000363922:R850C;ENSP00000363908:R864C;ENSP00000341844:R907C;ENSP00000363905:R877C;ENSP00000444429:R623C	ENSP00000341844:R907C	R	-	1	0	PARD3	34660165	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	3.633000	0.54295	2.697000	0.92050	0.650000	0.86243	CGT	PARD3	-	NULL		0.517	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34620159	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	A
PAX3	5077	genome.wustl.edu	37	2	223158986	223158986	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:223158986G>A	ENST00000350526.4	-	4	622	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PAX3_ENST00000336840.6_Silent_p.F162F|PAX3_ENST00000392070.2_Silent_p.F162F|PAX3_ENST00000258387.5_Silent_p.F162F|PAX3_ENST00000344493.4_Silent_p.F162F|PAX3_ENST00000409551.3_Silent_p.F161F|PAX3_ENST00000409828.3_Silent_p.F162F|PAX3_ENST00000392069.2_Silent_p.F162F	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	162					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTTCCCGAATTTACTTC	0.587			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													137.0	102.0	113.0					2																	223158986		2203	4300	6503	SO:0001819	synonymous_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.486C>T	2.37:g.223158986G>A			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.F162	ENST00000350526.4	37	c.486	CCDS42826.1	2																																																																																			PAX3	-	NULL		0.587	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	G			223158986	-1	no_errors	ENST00000392069	ensembl	human	known	70_37	silent	SNP	0.995	A
PC	5091	genome.wustl.edu	37	11	66616181	66616181	+	3'UTR	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:66616181C>G	ENST00000393958.2	-	0	3819				PC_ENST00000529047.1_3'UTR|PC_ENST00000393955.2_3'UTR|PC_ENST00000528224.1_5'UTR|PC_ENST00000393960.1_3'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase						biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGCAGCTGTCCGCCGGAGGA	0.592																																																	0																																										SO:0001624	3_prime_UTR_variant	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.*189G>C	11.37:g.66616181C>G			B4DN00|Q16705	RNA	SNP	-	NULL	ENST00000393958.2	37	NULL	CCDS8152.1	11																																																																																			PC	-	-		0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	C	NM_001040716		66616181	-1	no_errors	ENST00000528224	ensembl	human	putative	70_37	rna	SNP	0.001	G
PCDH15	65217	genome.wustl.edu	37	10	55626458	55626458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:55626458G>A	ENST00000320301.6	-	27	4055	c.3661C>T	c.(3661-3663)Caa>Taa	p.Q1221*	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q1184*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q1221*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q1226*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q1150*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q1221*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q1199*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.Q1228*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q1221*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q1228*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.Q832*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1221	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAATAACTTGAAACTTGAAG	0.398										HNSCC(58;0.16)																																							0													131.0	114.0	120.0					10																	55626458		2203	4300	6503	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3661C>T	10.37:g.55626458G>A	ENSP00000322604:p.Gln1221*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1221*	ENST00000320301.6	37	c.3661	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.511111	0.99674	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.929	0.70900	0.0:0.1429:0.8571:0.0	.	.	.	.	X	1228;1226;1221;1221;832;1228;1184;1221;1199;1221;1221;1226;1150	.	ENSP00000322604:Q1221X	Q	-	1	0	PCDH15	55296464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.332000	0.52083	2.681000	0.91329	0.563000	0.77884	CAA	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55626458	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PCDH19	57526	genome.wustl.edu	37	X	99597061	99597061	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:99597061G>C	ENST00000373034.4	-	5	4363	c.2688C>G	c.(2686-2688)ttC>ttG	p.F896L	PCDH19_ENST00000420881.2_Missense_Mutation_p.F848L|PCDH19_ENST00000255531.7_Missense_Mutation_p.F849L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	896					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTAAGTCCTTGAAGGTGGAGC	0.463																																																	0													170.0	154.0	159.0					X																	99597061		2070	4169	6239	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2688C>G	X.37:g.99597061G>C	ENSP00000362125:p.Phe896Leu		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F896L	ENST00000373034.4	37	c.2688	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612094	0.87258	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.57595	0.39;0.84;0.54	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.76494	0.982;0.999;0.998	D;D;D	0.85130	0.952;0.997;0.993	T	0.50440	-0.8828	10	0.02654	T	1	.	13.7448	0.62868	0.0752:0.0:0.9248:0.0	.	896;849;848	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	L	848;896;849	ENSP00000400327:F848L;ENSP00000362125:F896L;ENSP00000255531:F849L	ENSP00000255531:F849L	F	-	3	2	PCDH19	99483717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.290000	0.72712	1.185000	0.42971	0.600000	0.82982	TTC	PCDH19	-	NULL		0.463	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99597061	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDHGA2	56113	genome.wustl.edu	37	5	140720894	140720894	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:140720894G>C	ENST00000394576.2	+	1	2356	c.2356G>C	c.(2356-2358)Gag>Cag	p.E786Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	786					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGCTGTGAGAAAAAGGA	0.483																																																	0													87.0	95.0	92.0					5																	140720894		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2356G>C	5.37:g.140720894G>C	ENSP00000378077:p.Glu786Gln		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E786Q	ENST00000394576.2	37	c.2356	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878983	0.51801	.	.	ENSG00000081853	ENST00000394576	T	0.47869	0.83	4.86	4.86	0.63082	.	0.194996	0.23779	U	0.044660	T	0.66386	0.2784	M	0.81179	2.53	0.09310	N	1	P;B	0.49090	0.919;0.377	P;B	0.60609	0.877;0.091	T	0.59752	-0.7395	10	0.41790	T	0.15	.	13.841	0.63439	0.0:0.1988:0.8012:0.0	.	786;786	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	786	ENSP00000378077:E786Q	ENSP00000378077:E786Q	E	+	1	0	PCDHGA2	140701078	0.008000	0.16893	1.000000	0.80357	0.914000	0.54420	0.890000	0.28295	2.536000	0.85505	0.491000	0.48974	GAG	PCDHGA2	-	NULL		0.483	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720894	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.340	C
PCSK5	5125	genome.wustl.edu	37	9	78853949	78853949	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:78853949G>A	ENST00000545128.1	+	23	3479	c.2941G>A	c.(2941-2943)Gag>Aag	p.E981K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	981	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTATGCCACTGAGGGGAACAC	0.557																																																	0													35.0	31.0	33.0					9																	78853949		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2941G>A	9.37:g.78853949G>A	ENSP00000446280:p.Glu981Lys		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.E981K	ENST00000545128.1	37	c.2941	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438436	0.01098	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.28895	1.59;1.59	4.16	-8.31	0.01001	.	1.530470	0.03872	N	0.275783	T	0.13841	0.0335	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	8	0.06757	T	0.87	0.638	4.1829	0.10385	0.3708:0.3905:0.1582:0.0806	.	.	.	.	K	981;684;654	ENSP00000446280:E981K;ENSP00000411654:E654K	ENSP00000365945:E684K	E	+	1	0	PCSK5	78043769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.356000	0.07661	-3.664000	0.00124	-3.161000	0.00057	GAG	PCSK5	-	superfamily_Growth_fac_rcpt		0.557	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78853949	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.000	A
PDE11A	50940	genome.wustl.edu	37	2	178682599	178682599	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:178682599G>C	ENST00000286063.6	-	8	1947	c.1630C>G	c.(1630-1632)Caa>Gaa	p.Q544E	PDE11A_ENST00000449286.2_Missense_Mutation_p.Q186E|PDE11A_ENST00000409504.1_Missense_Mutation_p.Q186E|PDE11A_ENST00000358450.4_Missense_Mutation_p.Q294E|PDE11A_ENST00000389683.3_Missense_Mutation_p.Q100E|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	544	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AAAAGTCGTTGATCTGCATCA	0.373									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													83.0	88.0	86.0					2																	178682599		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1630C>G	2.37:g.178682599G>C	ENSP00000286063:p.Gln544Glu		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Q544E	ENST00000286063.6	37	c.1630	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.460|7.460	0.644483|0.644483	0.14451|0.14451	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1;-0.1	5.82|5.82	5.82|5.82	0.92795|0.92795	.|GAF (2);	.|0.273464	.|0.43110	.|D	.|0.000616	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.00637|0.00637	-1.305|-1.305	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23591	.|0.088;0.081	.|B;B	.|0.28991	.|0.058;0.097	T|T	0.48234|0.48234	-0.9053|-0.9053	5|10	.|0.02654	.|T	.|1	.|.	18.8801|18.8801	0.92352|0.92352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|294;544	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	M|E	182|544;294;186;100;186	.|ENSP00000286063:Q544E;ENSP00000351232:Q294E;ENSP00000386539:Q186E;ENSP00000374333:Q100E;ENSP00000390599:Q186E	.|ENSP00000286063:Q544E	I|Q	-|-	3|1	3|0	PDE11A|PDE11A	178390845|178390845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	9.312000|9.312000	0.96287|0.96287	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	ATC|CAA	PDE11A	-	pfam_GAF,smart_GAF		0.373	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	G			178682599	-1	no_errors	ENST00000286063	ensembl	human	known	70_37	missense	SNP	1.000	C
PDE12	201626	genome.wustl.edu	37	3	57542130	57542130	+	Silent	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:57542130C>A	ENST00000311180.8	+	1	127	c.24C>A	c.(22-24)cgC>cgA	p.R8R	PDE12_ENST00000487257.1_Silent_p.R8R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	8					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAGGCGCCCGCGCCGCGCTTC	0.706																																					Colon(125;308 1634 19198 50622 50717)												0													7.0	10.0	9.0					3																	57542130		2168	4249	6417	SO:0001819	synonymous_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.24C>A	3.37:g.57542130C>A			B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R8	ENST00000311180.8	37	c.24	CCDS33772.1	3																																																																																			PDE12	-	NULL		0.706	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	C	NM_177966		57542130	+1	no_errors	ENST00000311180	ensembl	human	known	70_37	silent	SNP	0.996	A
PDE6D	5147	genome.wustl.edu	37	2	232645809	232645809	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:232645809C>G	ENST00000287600.4	-	1	210	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	COPS7B_ENST00000409091.1_5'Flank|COPS7B_ENST00000409295.1_5'Flank|PDE6D_ENST00000409772.1_Missense_Mutation_p.E6Q|COPS7B_ENST00000410024.1_5'Flank|PDE6D_ENST00000477748.1_5'UTR	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	6					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		CTGGCCCGCTCGTCCTTGGCT	0.701																																																	0													18.0	20.0	20.0					2																	232645809		2197	4287	6484	SO:0001583	missense	5147			AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"""Phosphodiesterases"""	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.16G>C	2.37:g.232645809C>G	ENSP00000287600:p.Glu6Gln		O43250	Missense_Mutation	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu	p.E6Q	ENST00000287600.4	37	c.16	CCDS33398.1	2	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142175	0.21205	.	.	ENSG00000156973	ENST00000287600;ENST00000409772	.	.	.	4.48	3.6	0.41247	Immunoglobulin E-set (1);	0.058953	0.64402	D	0.000002	T	0.47655	0.1457	L	0.46157	1.445	0.47737	D	0.999506	P;B	0.50369	0.934;0.002	P;B	0.47603	0.551;0.001	T	0.34428	-0.9829	9	0.17369	T	0.5	-3.6564	10.5537	0.45103	0.0:0.9102:0.0:0.0898	.	6;6	B8ZZK5;O43924	.;PDE6D_HUMAN	Q	6	.	ENSP00000287600:E6Q	E	-	1	0	PDE6D	232354053	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	2.560000	0.45896	1.258000	0.44101	-0.698000	0.03680	GAG	PDE6D	-	superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu		0.701	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6D	HGNC	protein_coding	OTTHUMT00000332407.1	C			232645809	-1	no_errors	ENST00000287600	ensembl	human	known	70_37	missense	SNP	1.000	G
PDGFC	56034	genome.wustl.edu	37	4	157684185	157684185	+	3'UTR	SNP	A	A	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:157684185A>G	ENST00000502773.1	-	0	1585				PDGFC_ENST00000541126.1_3'UTR|PDGFC_ENST00000542208.1_3'UTR|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ACGTTCTCTAATAGAATCAGC	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	56034			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.*57T>C	4.37:g.157684185A>G			B4DU34|B9EGR8|Q4W5M9|Q9UL22	RNA	SNP	-	NULL	ENST00000502773.1	37	NULL	CCDS3795.1	4																																																																																			PDGFC	-	-		0.483	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFC	HGNC	protein_coding	OTTHUMT00000366123.1	A			157684185	-1	no_errors	ENST00000504672	ensembl	human	known	70_37	rna	SNP	0.000	G
PDIA5	10954	genome.wustl.edu	37	3	122865005	122865005	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:122865005C>T	ENST00000316218.7	+	13	1136	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	347	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGAAAGATTCCACATCTCAG	0.488																																																	0													157.0	164.0	162.0					3																	122865005		2203	4300	6503	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1041C>T	3.37:g.122865005C>T			D3DN95|Q9BV43	Silent	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.F347	ENST00000316218.7	37	c.1041	CCDS3020.1	3																																																																																			PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.488	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	C	NM_006810		122865005	+1	no_errors	ENST00000316218	ensembl	human	known	70_37	silent	SNP	1.000	T
PEG3	5178	genome.wustl.edu	37	19	57325574	57325574	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:57325574T>G	ENST00000326441.9	-	10	4599	c.4236A>C	c.(4234-4236)gaA>gaC	p.E1412D	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1288D|PEG3_ENST00000593695.1_Missense_Mutation_p.E1286D|PEG3_ENST00000423103.2_Missense_Mutation_p.E1412D|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1412	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.587																																																	0													44.0	47.0	46.0					19																	57325574		2202	4294	6496	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4236A>C	19.37:g.57325574T>G	ENSP00000326581:p.Glu1412Asp		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1412D	ENST00000326441.9	37	c.4236	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	5.760	0.324543	0.10900	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	4.04	-8.08	0.01094	.	0.734362	0.12167	N	0.493449	T	0.01320	0.0043	N	0.14661	0.345	.	.	.	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.37033	-0.9723	9	0.28530	T	0.3	-3.3935	3.2737	0.06891	0.0913:0.1888:0.2592:0.4607	.	1288;1412;1347	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1412	ENSP00000326581:E1412D;ENSP00000403051:E1412D	ENSP00000326581:E1412D	E	-	3	2	ZIM2	62017386	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-0.468000	0.06656	-3.438000	0.00163	-0.789000	0.03336	GAA	PEG3	-	NULL		0.587	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	T			57325574	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.000	G
PGAM2	5224	genome.wustl.edu	37	7	44104528	44104528	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:44104528G>A	ENST00000297283.3	-	2	555	c.498C>T	c.(496-498)ttC>ttT	p.F166F	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	166					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCTCGTTCCAGAAGGGCAGGG	0.647																																																	0													40.0	41.0	41.0					7																	44104528		2202	4300	6502	SO:0001819	synonymous_variant	5224				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.498C>T	7.37:g.44104528G>A				Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.F166	ENST00000297283.3	37	c.498	CCDS34624.1	7																																																																																			PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1		0.647	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	G			44104528	-1	no_errors	ENST00000297283	ensembl	human	known	70_37	silent	SNP	1.000	A
PHF21A	51317	genome.wustl.edu	37	11	45992865	45992865	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:45992865C>T	ENST00000418153.2	-	7	613	c.414G>A	c.(412-414)ttG>ttA	p.L138L	PHF21A_ENST00000323180.6_Silent_p.L138L|PHF21A_ENST00000257821.4_Silent_p.L138L			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	138					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTGCTGCTTTCAAGACGAGAG	0.473																																																	0													94.0	88.0	90.0					11																	45992865		2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.414G>A	11.37:g.45992865C>T			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L138	ENST00000418153.2	37	c.414	CCDS44578.1	11																																																																																			PHF21A	-	NULL		0.473	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	C	NM_016621		45992865	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	silent	SNP	1.000	T
PHLPP1	23239	genome.wustl.edu	37	18	60563237	60563237	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:60563237G>T	ENST00000262719.5	+	6	2671	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	PHLPP1_ENST00000400316.4_Missense_Mutation_p.D301Y			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	813					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TAAACATGTGGATCTAAGGTA	0.418																																																	0													57.0	53.0	54.0					18																	60563237		1849	4100	5949	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2437G>T	18.37:g.60563237G>T	ENSP00000262719:p.Asp813Tyr		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.D813Y	ENST00000262719.5	37	c.2437	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723190	0.89298	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26373	1.74;1.74	5.07	5.07	0.68467	.	.	.	.	.	T	0.52041	0.1710	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49351	-0.8949	9	0.46703	T	0.11	-19.9974	18.6605	0.91470	0.0:0.0:1.0:0.0	.	813	O60346	PHLP1_HUMAN	Y	301;813	ENSP00000383170:D301Y;ENSP00000262719:D813Y	ENSP00000262719:D813Y	D	+	1	0	PHLPP1	58714217	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.217000	0.95160	2.655000	0.90218	0.655000	0.94253	GAT	PHLPP1	-	NULL		0.418	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60563237	+1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	1.000	T
PIGK	10026	genome.wustl.edu	37	1	77627018	77627018	+	Missense_Mutation	SNP	C	C	T	rs200133111		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:77627018C>T	ENST00000370812.3	-	8	798	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	PIGK_ENST00000370813.5_Missense_Mutation_p.E183K|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.E259K|PIGK_ENST00000445065.1_Missense_Mutation_p.E165K	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	259					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GGGTTAATTTCTTCCAAAAAT	0.343																																																	0													87.0	90.0	89.0					1																	77627018		2203	4299	6502	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.775G>A	1.37:g.77627018C>T	ENSP00000359848:p.Glu259Lys		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.E259K	ENST00000370812.3	37	c.775	CCDS674.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369782	0.42003	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.44083	0.94;0.93;0.94;0.95	4.84	4.84	0.62591	.	0.051178	0.85682	D	0.000000	T	0.04363	0.0120	N	0.00219	-1.825	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.001;0.002	B;B;B;B	0.17098	0.017;0.017;0.006;0.012	T	0.45585	-0.9251	10	0.02654	T	1	-12.9004	18.3398	0.90302	0.0:1.0:0.0:0.0	.	183;165;259;259	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	K	259;165;183;259	ENSP00000359848:E259K;ENSP00000388854:E165K;ENSP00000359849:E183K;ENSP00000352041:E259K	ENSP00000352041:E259K	E	-	1	0	PIGK	77399606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.606000	0.54095	2.396000	0.81511	0.563000	0.77884	GAA	PIGK	-	pfam_Peptidase_C13		0.343	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	C	NM_005482		77627018	-1	no_errors	ENST00000370812	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3C2G	5288	genome.wustl.edu	37	12	18435273	18435273	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:18435273G>A	ENST00000266497.5	+	1	296	c.258G>A	c.(256-258)ttG>ttA	p.L86L	PIK3C2G_ENST00000538779.1_Silent_p.L86L|PIK3C2G_ENST00000535651.1_Silent_p.L86L|PIK3C2G_ENST00000433979.1_Silent_p.L86L|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	86					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATATCCTTGAATGAATTCA	0.398																																																	0													106.0	103.0	104.0					12																	18435273		1848	4087	5935	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.258G>A	12.37:g.18435273G>A			A1L3U0	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L86	ENST00000266497.5	37	c.258	CCDS44839.1	12																																																																																			PIK3C2G	-	NULL		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18435273	+1	no_errors	ENST00000538779	ensembl	human	known	70_37	silent	SNP	0.002	A
PIN1	5300	genome.wustl.edu	37	19	9959799	9959799	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:9959799T>C	ENST00000247970.4	+	4	438	c.416T>C	c.(415-417)tTt>tCt	p.F139S	PIN1_ENST00000588695.1_Missense_Mutation_p.F139S|PIN1_ENST00000380889.6_3'UTR|AC008752.3_ENST00000582439.1_RNA	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	139	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GACGCCTCGTTTGCGCTGCGG	0.672																																																	0													56.0	52.0	53.0					19																	9959799		2203	4300	6503	SO:0001583	missense	5300				CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.416T>C	19.37:g.9959799T>C	ENSP00000247970:p.Phe139Ser		A8K4V9|Q53X75	Missense_Mutation	SNP	pfam_PPIase_PpiC,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_PPIase_PpiC	p.F139S	ENST00000247970.4	37	c.416	CCDS12220.1	19	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805680	0.70682	.	.	ENSG00000127445	ENST00000247970;ENST00000380889	T	0.57107	0.42	4.09	4.09	0.47781	Peptidyl-prolyl cis-trans isomerase, PpiC-type (2);	0.064471	0.64402	D	0.000010	T	0.75642	0.3877	M	0.91920	3.255	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.80872	-0.1188	9	.	.	.	-5.3293	11.1421	0.48408	0.0:0.0:0.0:1.0	.	139	Q13526	PIN1_HUMAN	S	139;10	ENSP00000247970:F139S	.	F	+	2	0	PIN1	9820799	1.000000	0.71417	0.986000	0.45419	0.723000	0.41478	4.184000	0.58323	1.727000	0.51537	0.454000	0.30748	TTT	PIN1	-	pfam_PPIase_PpiC,pfscan_PPIase_PpiC		0.672	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1	HGNC	protein_coding	OTTHUMT00000451107.1	T			9959799	+1	no_errors	ENST00000247970	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3R2	5296	genome.wustl.edu	37	19	18273798	18273798	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:18273798G>C	ENST00000593731.1	+	10	1691	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	PIK3R2_ENST00000222254.8_Silent_p.L377L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	377	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACAATAAGCTGATCAAGGTCT	0.572																																																	0													105.0	84.0	91.0					19																	18273798		2203	4300	6503	SO:0001819	synonymous_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1131G>C	19.37:g.18273798G>C			Q5EAT5|Q9UPH9	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.L377	ENST00000593731.1	37	c.1131	CCDS12371.1	19																																																																																			PIK3R2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.572	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	G	NM_005027		18273798	+1	no_errors	ENST00000222254	ensembl	human	known	70_37	silent	SNP	0.832	C
PLD5	200150	genome.wustl.edu	37	1	242687437	242687437	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:242687437C>T	ENST00000536534.2	-	1	383	c.142G>A	c.(142-144)Gac>Aac	p.D48N	PLD5_ENST00000442594.2_5'UTR			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	48						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCGCTGTAGTCCTGCTGCTTG	0.657																																																	0																																										SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.142G>A	1.37:g.242687437C>T	ENSP00000440896:p.Asp48Asn		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.D48N	ENST00000536534.2	37	c.142	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818051	0.71028	.	.	ENSG00000180287	ENST00000536534	T	0.53857	0.6	3.7	3.7	0.42460	.	.	.	.	.	T	0.50531	0.1621	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60068	-0.7335	9	0.87932	D	0	.	12.288	0.54803	0.0:1.0:0.0:0.0	.	48	Q8N7P1	PLD5_HUMAN	N	48	ENSP00000440896:D48N	ENSP00000355503:D48N	D	-	1	0	PLD5	240754060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.995000	0.63908	1.889000	0.54706	0.462000	0.41574	GAC	PLD5	-	NULL		0.657	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	C	NM_152666		242687437	-1	no_errors	ENST00000536534	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHG3	26030	genome.wustl.edu	37	14	65208125	65208125	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:65208125G>A	ENST00000394691.1	+	16	2037	c.1890G>A	c.(1888-1890)ggG>ggA	p.G630G	PLEKHG3_ENST00000247226.7_Silent_p.G574G|PLEKHG3_ENST00000471182.2_Silent_p.G163G|PLEKHG3_ENST00000484731.2_Silent_p.G135G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	630							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GTGGCTTTGGGAGCCCGCGGC	0.667																																																	0													32.0	38.0	36.0					14																	65208125		2203	4299	6502	SO:0001819	synonymous_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1890G>A	14.37:g.65208125G>A			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G630	ENST00000394691.1	37	c.1890		14																																																																																			PLEKHG3	-	NULL		0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65208125	+1	no_errors	ENST00000394691	ensembl	human	known	70_37	silent	SNP	0.077	A
POT1	25913	genome.wustl.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:124475408C>T	ENST00000357628.3	-	15	2028	c.1430G>A	c.(1429-1431)aGa>aAa	p.R477K	POT1_ENST00000393329.1_Missense_Mutation_p.R346K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												4	Substitution - Missense(4)	lung(4)											165.0	166.0	166.0					7																	124475408		2203	4300	6503	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1430G>A	7.37:g.124475408C>T	ENSP00000350249:p.Arg477Lys		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd	p.R477K	ENST00000357628.3	37	c.1430	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083245	0.20309	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000265391	T;T	0.41400	1.0;1.0	5.54	-4.44	0.03557	.	0.523932	0.22488	N	0.059410	T	0.18800	0.0451	N	0.25890	0.77	0.26589	N	0.97324	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.14656	T	0.56	-6.1835	4.4511	0.11621	0.1176:0.1696:0.116:0.5968	.	477	Q9NUX5	POTE1_HUMAN	K	477;346;477;476	ENSP00000350249:R477K;ENSP00000377002:R346K	ENSP00000265391:R476K	R	-	2	0	POT1	124262644	0.074000	0.21230	0.413000	0.26509	0.943000	0.58893	-1.285000	0.02791	-0.502000	0.06596	-0.282000	0.10007	AGA	POT1	-	NULL		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	C			124475408	-1	no_errors	ENST00000357628	ensembl	human	known	70_37	missense	SNP	0.745	T
POTEE	445582	genome.wustl.edu	37	2	131976377	131976377	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:131976377C>T	ENST00000356920.5	+	1	496	c.402C>T	c.(400-402)caC>caT	p.H134H	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.H134H|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	134					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCAGGTACCACGTCCGTGGAG	0.602																																																	0													75.0	77.0	76.0					2																	131976377		2203	4300	6503	SO:0001819	synonymous_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.402C>T	2.37:g.131976377C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.H134	ENST00000356920.5	37	c.402	CCDS46414.1	2																																																																																			POTEE	-	NULL		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		C	NM_001083538		131976377	+1	no_errors	ENST00000356920	ensembl	human	known	70_37	silent	SNP	0.007	T
PPFIA2	8499	genome.wustl.edu	37	12	81741424	81741424	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:81741424G>A	ENST00000549396.1	-	18	2280	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F	PPFIA2_ENST00000541570.2_Missense_Mutation_p.S274F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S633F|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S707F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S554F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S608F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S707F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S689F|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S707F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S689F	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	707					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGCTGTAACAGAGGCAGTAAT	0.537																																																	0													143.0	150.0	148.0					12																	81741424		1998	4157	6155	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2120C>T	12.37:g.81741424G>A	ENSP00000450337:p.Ser707Phe		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S707F	ENST00000549396.1	37	c.2120	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882689	0.91740	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.80183	2.485	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.70579	-0.4833	10	0.42905	T	0.14	-10.0983	19.7929	0.96466	0.0:0.0:1.0:0.0	.	707	O75334	LIPA2_HUMAN	F	707;689;274;633;718;689;707;608;707	ENSP00000450337:S707F;ENSP00000450298:S689F;ENSP00000438337:S274F;ENSP00000385093:S633F;ENSP00000327416:S689F;ENSP00000449338:S707F;ENSP00000388373:S608F;ENSP00000447868:S707F	ENSP00000327416:S689F	S	-	2	0	PPFIA2	80265555	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.775000	0.98995	2.741000	0.93983	0.650000	0.86243	TCT	PPFIA2	-	NULL		0.537	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	G			81741424	-1	no_errors	ENST00000549396	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R15A	23645	genome.wustl.edu	37	19	49377902	49377902	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:49377902C>T	ENST00000200453.5	+	2	1681	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	471	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCACATCCCTCCCACCCGGAC	0.572																																																	0													70.0	71.0	71.0					19																	49377902		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1412C>T	19.37:g.49377902C>T	ENSP00000200453:p.Ser471Phe		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.S471F	ENST00000200453.5	37	c.1412	CCDS12738.1	19	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596946	0.46318	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.06068	3.35	4.25	2.0	0.26442	.	0.589832	0.14585	N	0.310594	T	0.05640	0.0148	L	0.39898	1.24	0.09310	N	1	B	0.24963	0.115	B	0.22152	0.038	T	0.34378	-0.9831	10	0.45353	T	0.12	-5.3355	5.9478	0.19229	0.0:0.6943:0.196:0.1097	.	471	O75807	PR15A_HUMAN	F	471;311;429	ENSP00000200453:S471F	ENSP00000200453:S471F	S	+	2	0	PPP1R15A	54069714	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.639000	0.24690	0.468000	0.27243	0.650000	0.86243	TCC	PPP1R15A	-	NULL		0.572	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	C	NM_014330		49377902	+1	no_errors	ENST00000200453	ensembl	human	known	70_37	missense	SNP	0.005	T
PRADC1	84279	genome.wustl.edu	37	2	73456686	73456686	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:73456686C>T	ENST00000258083.2	-	3	248	c.181G>A	c.(181-183)Gag>Aag	p.E61K	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	61						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						TGAATCTGCTCATACCTTGTG	0.507																																																	0													92.0	89.0	90.0					2																	73456686		2203	4300	6503	SO:0001583	missense	84279			BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.181G>A	2.37:g.73456686C>T	ENSP00000258083:p.Glu61Lys		Q2Z1P2	Missense_Mutation	SNP	pfam_Protease-assoc_domain	p.E61K	ENST00000258083.2	37	c.181	CCDS1924.1	2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161746	0.57368	.	.	ENSG00000135617	ENST00000258083	.	.	.	4.98	4.98	0.66077	.	0.057088	0.64402	D	0.000004	T	0.38427	0.1040	N	0.12502	0.225	0.50813	D	0.999891	B	0.14805	0.011	B	0.22880	0.042	T	0.25606	-1.0127	9	0.06236	T	0.91	-24.8177	17.3441	0.87305	0.0:1.0:0.0:0.0	.	61	Q9BSG0	PADC1_HUMAN	K	61	.	ENSP00000258083:E61K	E	-	1	0	PRADC1	73310194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.753000	0.94483	0.655000	0.94253	GAG	PRADC1	-	NULL		0.507	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRADC1	HGNC	protein_coding	OTTHUMT00000251989.1	C	NM_032319		73456686	-1	no_errors	ENST00000258083	ensembl	human	known	70_37	missense	SNP	1.000	T
PRAMEF10	343071	genome.wustl.edu	37	1	12954896	12954896	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:12954896C>G	ENST00000235347.4	-	3	466	c.387G>C	c.(385-387)atG>atC	p.M129I		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	129					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCTTACTCATGGCCTCTG	0.522																																																	0													53.0	57.0	56.0					1																	12954896		1913	3864	5777	SO:0001583	missense	343071			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.387G>C	1.37:g.12954896C>G	ENSP00000235347:p.Met129Ile		Q2M1V2	Missense_Mutation	SNP	NULL	p.M129I	ENST00000235347.4	37	c.387	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	4.751	0.139564	0.09083	.	.	ENSG00000187545	ENST00000235347	T	0.16324	2.35	1.08	-0.0638	0.13775	.	1.612070	0.04072	N	0.308230	T	0.16514	0.0397	L	0.52126	1.63	0.09310	N	1	B	0.23128	0.08	B	0.22753	0.041	T	0.29027	-1.0025	10	0.35671	T	0.21	.	4.7994	0.13289	0.0:0.6015:0.3985:0.0	.	129	O60809	PRA10_HUMAN	I	129	ENSP00000235347:M129I	ENSP00000235347:M129I	M	-	3	0	PRAMEF10	12877483	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.318000	0.08050	-0.011000	0.14247	0.194000	0.17425	ATG	PRAMEF10	-	NULL		0.522	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	C	XM_496342		12954896	-1	no_errors	ENST00000235347	ensembl	human	known	70_37	missense	SNP	0.001	G
PRB1	5542	genome.wustl.edu	37	12	11506810	11506810	+	Missense_Mutation	SNP	T	T	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:11506810T>A	ENST00000500254.2	-	3	264	c.227A>T	c.(226-228)aAg>aTg	p.K76M	PRB1_ENST00000546254.1_Missense_Mutation_p.K76M|PRB1_ENST00000545626.1_Missense_Mutation_p.K76M	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTTGTGGCTTTCCTGGAGG	0.622																																																	0													140.0	174.0	163.0					12																	11506810		2162	4264	6426	SO:0001583	missense	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.227A>T	12.37:g.11506810T>A	ENSP00000420826:p.Lys76Met		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.K76M	ENST00000500254.2	37	c.227	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	6.570	0.473402	0.12461	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.05580	3.42;3.42;3.42	0.86	-0.694	0.11294	.	.	.	.	.	T	0.13543	0.0328	M	0.79475	2.455	0.09310	N	1	D;D;D	0.58268	0.982;0.982;0.982	P;P;P	0.53035	0.551;0.716;0.551	T	0.10636	-1.0621	9	0.52906	T	0.07	.	4.8047	0.13314	0.0:0.0:0.3173:0.6826	.	83;76;76	Q86YA1;G3V1R1;G3V1M9	.;.;.	M	76	ENSP00000444249:K76M;ENSP00000420826:K76M;ENSP00000442127:K76M	ENSP00000420826:K76M	K	-	2	0	PRB1	11398077	0.004000	0.15560	0.000000	0.03702	0.030000	0.12068	-0.052000	0.11865	-0.191000	0.10448	0.254000	0.18369	AAG	PRB1	-	NULL		0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	T	NM_005039		11506810	-1	no_errors	ENST00000500254	ensembl	human	known	70_37	missense	SNP	0.000	A
PREX1	57580	genome.wustl.edu	37	20	47258742	47258742	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:47258742C>G	ENST00000371941.3	-	29	3761	c.3739G>C	c.(3739-3741)Gag>Cag	p.E1247Q	PREX1_ENST00000396220.1_Missense_Mutation_p.E1247Q|PREX1_ENST00000496915.1_5'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1247					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCTTGGTCTCTTCGAAAGCC	0.592																																																	0													110.0	100.0	103.0					20																	47258742		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3739G>C	20.37:g.47258742C>G	ENSP00000361009:p.Glu1247Gln		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E1247Q	ENST00000371941.3	37	c.3739	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	c	11.19	1.566870	0.28003	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37584	1.19;1.19	5.4	5.4	0.78164	.	0.000000	0.53938	U	0.000043	T	0.46908	0.1417	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.76494	0.094;0.999	B;D	0.70487	0.049;0.969	T	0.19289	-1.0310	10	0.05833	T	0.94	.	19.2615	0.93970	0.0:1.0:0.0:0.0	.	1247;544	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1247	ENSP00000361009:E1247Q;ENSP00000379522:E1247Q	ENSP00000361009:E1247Q	E	-	1	0	PREX1	46692149	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.751000	0.55165	2.538000	0.85594	0.639000	0.83563	GAG	PREX1	-	NULL		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820		47258742	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	G
PRR22	163154	genome.wustl.edu	37	19	5783499	5783499	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:5783499G>C	ENST00000419421.2	-	3	863	c.759C>G	c.(757-759)ctC>ctG	p.L253L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	253										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CGGCCACCTTGAGCTCGCTGA	0.692																																																	0													10.0	13.0	12.0					19																	5783499		2177	4265	6442	SO:0001819	synonymous_variant	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.759C>G	19.37:g.5783499G>C			E9PB31	Silent	SNP	NULL	p.L253	ENST00000419421.2	37	c.759	CCDS45933.1	19																																																																																			PRR22	-	NULL		0.692	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	HGNC	protein_coding	OTTHUMT00000368523.1	G	NM_153359		5783499	-1	no_errors	ENST00000419421	ensembl	human	known	70_37	silent	SNP	0.001	C
PTPN5	84867	genome.wustl.edu	37	11	18750523	18750523	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:18750523C>G	ENST00000358540.2	-	15	2086	c.1656G>C	c.(1654-1656)atG>atC	p.M552I	PTPN5_ENST00000396171.4_Missense_Mutation_p.M552I|PTPN5_ENST00000396170.1_Missense_Mutation_p.M520I|IGSF22_ENST00000513874.1_5'Flank|PTPN5_ENST00000396167.2_Missense_Mutation_p.M520I|PTPN5_ENST00000396168.1_Missense_Mutation_p.M528I|PTPN5_ENST00000477854.1_Missense_Mutation_p.M356I|PTPN5_ENST00000396166.3_Missense_Mutation_p.M158I|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	552	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CGTAGAGGCTCATGACGTGGT	0.617																																																	0													221.0	171.0	188.0					11																	18750523		2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1656G>C	11.37:g.18750523C>G	ENSP00000351342:p.Met552Ile		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.M552I	ENST00000358540.2	37	c.1656	CCDS7845.1	11	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355950	0.41700	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396166;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.06	4.06	0.47325	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.064271	0.64402	D	0.000006	T	0.58793	0.2147	N	0.02213	-0.635	0.38870	D	0.956686	B;B	0.31931	0.036;0.347	B;B	0.31495	0.094;0.131	T	0.66152	-0.5995	10	0.45353	T	0.12	.	13.2511	0.60052	0.0:1.0:0.0:0.0	.	552;520	P54829;B3KXG7	PTN5_HUMAN;.	I	356;552;158;520;552;520;528	ENSP00000435056:M356I;ENSP00000351342:M552I;ENSP00000379469:M158I;ENSP00000379473:M520I;ENSP00000379474:M552I;ENSP00000379470:M520I;ENSP00000379471:M528I	ENSP00000351342:M552I	M	-	3	0	PTPN5	18707099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.994000	0.29693	2.103000	0.63969	0.561000	0.74099	ATG	PTPN5	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con		0.617	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2	C	NM_001039970		18750523	-1	no_errors	ENST00000358540	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRH	5794	genome.wustl.edu	37	19	55708498	55708498	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:55708498G>A	ENST00000376350.3	-	9	1999	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	PTPRH_ENST00000263434.5_Silent_p.L481L|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	659	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGACGCACAGAGGCTCTGCG	0.532																																																	0													120.0	94.0	102.0					19																	55708498		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1977C>T	19.37:g.55708498G>A			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L659	ENST00000376350.3	37	c.1977	CCDS33110.1	19																																																																																			PTPRH	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.532	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	G			55708498	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	silent	SNP	0.781	A
PXDNL	137902	genome.wustl.edu	37	8	52384809	52384809	+	Silent	SNP	G	G	A	rs372855537		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:52384809G>A	ENST00000356297.4	-	8	850	c.750C>T	c.(748-750)acC>acT	p.T250T	PXDNL_ENST00000543296.1_Silent_p.T250T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	250	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAAGTAGACGGTATTTCCTG	0.428																																																	0								A		1,3755		0,1,1877	164.0	157.0	159.0		750	1.3	0.4	8		159	1,8191		0,1,4095	no	coding-synonymous	PXDNL	NM_144651.4		0,2,5972	AA,AG,GG		0.0122,0.0266,0.0167		250/1464	52384809	2,11946	1878	4096	5974	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.750C>T	8.37:g.52384809G>A			B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.T250	ENST00000356297.4	37	c.750	CCDS47855.1	8																																																																																			PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	G	NM_144651		52384809	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	silent	SNP	0.967	A
QRFPR	84109	genome.wustl.edu	37	4	122301714	122301714	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:122301714C>T	ENST00000394427.2	-	1	500	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	QRFPR_ENST00000334383.5_Missense_Mutation_p.R30Q	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	30					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGGTCGCAGCCGGTACAGAGC	0.647																																																	0													19.0	22.0	21.0					4																	122301714		2203	4300	6503	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.89G>A	4.37:g.122301714C>T	ENSP00000377948:p.Arg30Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.R30Q	ENST00000394427.2	37	c.89	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	c	10.64	1.407374	0.25378	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.71341	-0.56;-0.39	4.91	3.19	0.36642	.	1.408380	0.04536	N	0.387289	T	0.50650	0.1628	N	0.08118	0	0.09310	N	0.99999	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.35919	-0.9769	10	0.13470	T	0.59	.	8.2861	0.31930	0.0:0.7547:0.0:0.2453	.	30;30;30	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	Q	30	ENSP00000377948:R30Q;ENSP00000335610:R30Q	ENSP00000335610:R30Q	R	-	2	0	QRFPR	122521164	0.415000	0.25416	0.374000	0.26016	0.760000	0.43138	2.106000	0.41835	0.476000	0.27440	-0.349000	0.07799	CGG	QRFPR	-	NULL		0.647	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	C	NM_198179		122301714	-1	no_errors	ENST00000394427	ensembl	human	known	70_37	missense	SNP	0.930	T
RALBP1	10928	genome.wustl.edu	37	18	9522346	9522346	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:9522346G>A	ENST00000019317.4	+	4	1115	c.892G>A	c.(892-894)Gag>Aag	p.E298K	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.E298K			Q15311	RBP1_HUMAN	ralA binding protein 1	298	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	CACGGAGACTGAGAAAGTGCA	0.448																																																	0													77.0	73.0	74.0					18																	9522346		2203	4300	6503	SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.892G>A	18.37:g.9522346G>A	ENSP00000019317:p.Glu298Lys		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E298K	ENST00000019317.4	37	c.892	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567503	0.86439	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.21543	2.0;2.0	5.22	5.22	0.72569	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11012	-1.0605	10	0.44086	T	0.13	-6.3531	19.1266	0.93388	0.0:0.0:1.0:0.0	.	298	Q15311	RBP1_HUMAN	K	298	ENSP00000019317:E298K;ENSP00000372924:E298K	ENSP00000019317:E298K	E	+	1	0	RALBP1	9512346	1.000000	0.71417	0.954000	0.39281	0.512000	0.34134	9.748000	0.98867	2.590000	0.87494	0.563000	0.77884	GAG	RALBP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	G	NM_006788		9522346	+1	no_errors	ENST00000019317	ensembl	human	known	70_37	missense	SNP	1.000	A
RALGDS	5900	genome.wustl.edu	37	9	135975587	135975587	+	Intron	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:135975587C>T	ENST00000372050.3	-	17	2591				RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393160.3_Intron|RALGDS_ENST00000393157.3_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000542690.1_Intron	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCAAAGGCTTCCAACCTGGGG	0.597			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0																																										SO:0001627	intron_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2569+67G>A	9.37:g.135975587C>T			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	RNA	SNP	-	NULL	ENST00000372050.3	37	NULL	CCDS6959.1	9																																																																																			RALGDS	-	-		0.597	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135975587	-1	no_errors	ENST00000469972	ensembl	human	known	70_37	rna	SNP	0.000	T
RALGDS	5900	genome.wustl.edu	37	9	135984132	135984132	+	Missense_Mutation	SNP	C	C	T	rs374152758		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:135984132C>T	ENST00000372050.3	-	5	727	c.706G>A	c.(706-708)Gac>Aac	p.D236N	RALGDS_ENST00000372047.3_Missense_Mutation_p.D224N|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393160.3_Missense_Mutation_p.D181N|RALGDS_ENST00000393157.3_Missense_Mutation_p.D235N|RALGDS_ENST00000372062.3_Missense_Mutation_p.D207N|RALGDS_ENST00000542690.1_Missense_Mutation_p.D307N	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	236	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCTCCAGGTCTGAGCCTGGC	0.632			T	CIITA	"""PMBL, Hodgkin Lymphona, """								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18715	0.0		0.0	False		,,,				2504	0.0				Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0								C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	83.0	73.0	76.0		541,706	3.8	0.7	9		76	0,8600		0,0,4300	no	missense,missense	RALGDS	NM_001042368.1,NM_006266.2	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/860,236/915	135984132	1,13005	2203	4300	6503	SO:0001583	missense	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.706G>A	9.37:g.135984132C>T	ENSP00000361120:p.Asp236Asn		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D307N	ENST00000372050.3	37	c.919	CCDS6959.1	9	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899037	0.91962	2.27E-4	0.0	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.67	3.84	0.44239	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.077636	0.53938	N	0.000041	T	0.49626	0.1568	M	0.68952	2.095	0.39168	D	0.962546	D;B;B;B;B;B;B;B	0.57257	0.979;0.028;0.169;0.028;0.013;0.013;0.013;0.013	D;B;B;B;B;B;B;B	0.66716	0.946;0.027;0.091;0.014;0.007;0.007;0.007;0.007	T	0.51498	-0.8698	10	0.52906	T	0.07	.	11.1796	0.48620	0.0:0.8529:0.0:0.1471	.	307;207;236;224;181;235;224;236	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	N	236;224;181;5;235;307;207	ENSP00000361120:D236N;ENSP00000361117:D224N;ENSP00000376867:D181N;ENSP00000376864:D235N;ENSP00000437518:D307N;ENSP00000361132:D207N	ENSP00000361117:D224N	D	-	1	0	RALGDS	134973953	1.000000	0.71417	0.727000	0.30756	0.998000	0.95712	7.753000	0.85153	0.769000	0.33313	0.655000	0.94253	GAC	RALGDS	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.632	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135984132	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	missense	SNP	0.997	T
RANBP2	5903	genome.wustl.edu	37	2	109380099	109380099	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:109380099C>G	ENST00000283195.6	+	20	3230	c.3104C>G	c.(3103-3105)tCa>tGa	p.S1035*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1035					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATTTAACTCAAATTTCAAA	0.438																																																	0													104.0	104.0	104.0					2																	109380099		2203	4299	6502	SO:0001587	stop_gained	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3104C>G	2.37:g.109380099C>G	ENSP00000283195:p.Ser1035*		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S1035*	ENST00000283195.6	37	c.3104	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.740062	0.98935	.	.	ENSG00000153201	ENST00000283195	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.0885	19.8051	0.96529	0.0:1.0:0.0:0.0	.	.	.	.	X	1035	.	ENSP00000283195:S1035X	S	+	2	0	RANBP2	108746531	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.919000	0.56439	2.672000	0.90937	0.557000	0.71058	TCA	RANBP2	-	NULL		0.438	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	C	NM_006267		109380099	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	nonsense	SNP	1.000	G
RARS2	57038	genome.wustl.edu	37	6	88265133	88265133	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:88265133C>T	ENST00000369536.5	-	5	433	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	130					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CACCTGAATTCAACCACAATC	0.378																																																	0													101.0	97.0	99.0					6																	88265133		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.388G>A	6.37:g.88265133C>T	ENSP00000358549:p.Glu130Lys		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.E130K	ENST00000369536.5	37	c.388	CCDS5011.1	6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872323	0.91587	.	.	ENSG00000146282	ENST00000369536;ENST00000369523	T	0.70869	-0.52	5.7	5.7	0.88788	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88004	0.2758	10	0.72032	D	0.01	.	18.5923	0.91218	0.0:1.0:0.0:0.0	.	130	Q5T160	SYRM_HUMAN	K	130;157	ENSP00000358549:E130K	ENSP00000358536:E157K	E	-	1	0	RARS2	88321852	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.322000	0.65852	2.680000	0.91292	0.591000	0.81541	GAA	RARS2	-	pfam_Arg-tRNA-synth_Ia_core,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia		0.378	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265133	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	T
RARS2	57038	genome.wustl.edu	37	6	88265183	88265183	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:88265183C>T	ENST00000369536.5	-	5	383	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	113					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACTTTTTAATCCATATTTTGA	0.343																																																	0													110.0	107.0	108.0					6																	88265183		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.338G>A	6.37:g.88265183C>T	ENSP00000358549:p.Gly113Glu		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.G113E	ENST00000369536.5	37	c.338	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.423689|4.423689	0.83559|0.83559	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|D	.|0.95756	.|-3.8	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Arginyl tRNA synthetase, class Ia, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98463|0.98463	0.9488|0.9488	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.99376|0.99376	1.0921|1.0921	5|10	.|0.87932	.|D	.|0	.|.	18.5727|18.5727	0.91142|0.91142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|113	.|Q5T160	.|SYRM_HUMAN	N|E	141|113;140	.|ENSP00000358549:G113E	.|ENSP00000358536:G140E	D|G	-|-	1|2	0|0	RARS2|RARS2	88321902|88321902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.319000|5.319000	0.65835|0.65835	2.676000|2.676000	0.91093|0.91093	0.586000|0.586000	0.80456|0.80456	GAT|GGA	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.343	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265183	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	T
RASAL3	64926	genome.wustl.edu	37	19	15568600	15568600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:15568600C>A	ENST00000343625.7	-	9	1019	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	RASAL3_ENST00000608577.1_5'UTR	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	312	C2.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCCTTCGCTTCGTGCACCCAC	0.692																																																	0													5.0	5.0	5.0					19																	15568600		1755	3571	5326	SO:0001587	stop_gained	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.934G>T	19.37:g.15568600C>A	ENSP00000341905:p.Glu312*		Q8N2T9|Q9H735	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.E312*	ENST00000343625.7	37	c.934	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	c	38	7.158855	0.98103	.	.	ENSG00000105122	ENST00000343625	.	.	.	4.2	3.14	0.36123	.	0.000000	0.37136	U	0.002237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5865	0.50920	0.0:0.8174:0.1825:0.0	.	.	.	.	X	312	.	ENSP00000341905:E312X	E	-	1	0	RASAL3	15429600	1.000000	0.71417	0.985000	0.45067	0.958000	0.62258	7.014000	0.76380	0.725000	0.32318	0.556000	0.70494	GAA	RASAL3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.692	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	C	NM_022904		15568600	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RBM19	9904	genome.wustl.edu	37	12	114387954	114387954	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:114387954T>C	ENST00000545145.2	-	9	1084	c.1006A>G	c.(1006-1008)Atc>Gtc	p.I336V	RBM19_ENST00000392561.3_Missense_Mutation_p.I336V|RBM19_ENST00000261741.5_Missense_Mutation_p.I336V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCACAAAGATGTATCCTGAC	0.498																																																	0													175.0	139.0	152.0					12																	114387954		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1006A>G	12.37:g.114387954T>C	ENSP00000442053:p.Ile336Val		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.I336V	ENST00000545145.2	37	c.1006	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	T	1.913	-0.450188	0.04572	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.07444	3.19;3.19;3.19	4.49	-2.7	0.06004	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.204233	0.40908	N	0.000988	T	0.02970	0.0088	N	0.02916	-0.46	0.30808	N	0.739148	B	0.02656	0.0	B	0.04013	0.001	T	0.35176	-0.9799	10	0.25751	T	0.34	-14.4031	11.6811	0.51458	0.0:0.3246:0.0:0.6754	.	336	Q9Y4C8	RBM19_HUMAN	V	336	ENSP00000442053:I336V;ENSP00000376344:I336V;ENSP00000261741:I336V	ENSP00000261741:I336V	I	-	1	0	RBM19	112872337	0.010000	0.17322	0.938000	0.37757	0.968000	0.65278	-0.164000	0.09983	-0.886000	0.03966	0.459000	0.35465	ATC	RBM19	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.498	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	T	NM_016196		114387954	-1	no_errors	ENST00000261741	ensembl	human	known	70_37	missense	SNP	0.988	C
RBMXL1	494115	genome.wustl.edu	37	1	89449631	89449631	+	5'UTR	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:89449631G>A	ENST00000321792.5	-	0	306				RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000399794.2_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ACTGAACCGCGAAGCCGCTAG	0.522											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.-122C>T	1.37:g.89449631G>A		1267		RNA	SNP	-	NULL	ENST00000321792.5	37	NULL	CCDS716.1	1																																																																																			RBMXL1	-	-		0.522	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	G	NM_019610		89449631	-1	no_errors	ENST00000413769	ensembl	human	known	70_37	rna	SNP	0.001	A
RDH13	112724	genome.wustl.edu	37	19	55559864	55559864	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:55559864G>A	ENST00000415061.3	-	5	634	c.491C>T	c.(490-492)tCa>tTa	p.S164L	RDH13_ENST00000396247.3_Missense_Mutation_p.S93L|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	164					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CGAAGGGGCTGAGGCTTTCAG	0.488																																																	0													76.0	77.0	77.0					19																	55559864		2018	4176	6194	SO:0001583	missense	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.491C>T	19.37:g.55559864G>A	ENSP00000391121:p.Ser164Leu		Q6UX79|Q96G88	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S164L	ENST00000415061.3	37	c.491	CCDS54320.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281003	0.80692	.	.	ENSG00000160439	ENST00000415061;ENST00000396247;ENST00000291892	D;D;D	0.87103	-2.21;-2.21;-2.21	5.29	4.18	0.49190	NAD(P)-binding domain (1);	0.267024	0.36893	N	0.002344	D	0.89891	0.6846	M	0.84326	2.69	0.42077	D	0.991235	P	0.47484	0.896	P	0.48270	0.572	D	0.91635	0.5322	10	0.87932	D	0	.	13.4806	0.61334	0.0:0.1583:0.8417:0.0	.	164	Q8NBN7	RDH13_HUMAN	L	164;93;164	ENSP00000391121:S164L;ENSP00000379547:S93L;ENSP00000291892:S164L	ENSP00000291892:S164L	S	-	2	0	RDH13	60251676	1.000000	0.71417	0.945000	0.38365	0.813000	0.45954	4.590000	0.61013	2.665000	0.90641	0.549000	0.68633	TCA	RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH		0.488	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	G	NM_138412		55559864	-1	no_errors	ENST00000415061	ensembl	human	known	70_37	missense	SNP	0.978	A
RGS10	6001	genome.wustl.edu	37	10	121285616	121285617	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:121285616_121285617insT	ENST00000369101.3	-	2	185_186	c.158_159insA	c.(157-159)aagfs	p.K53fs	RGS10_ENST00000392865.1_Frame_Shift_Ins_p.K47fs|RGS10_ENST00000469575.1_5'Flank|RGS10_ENST00000369103.2_Frame_Shift_Ins_p.K61fs			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	53	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CACTGAATTCCTTTTTTAAAAA	0.297																																																	0																																										SO:0001589	frameshift_variant	6001			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.159dupA	10.37:g.121285622_121285622dupT	ENSP00000358097:p.Lys53fs		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Frame_Shift_Ins	INS	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E62fs	ENST00000369101.3	37	c.183_182		10																																																																																			RGS10	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.297	RGS10-002	KNOWN	basic	protein_coding	RGS10	HGNC	protein_coding	OTTHUMT00000050655.1	-	NM_002925		121285617	-1	no_errors	ENST00000369103	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
RGS14	10636	genome.wustl.edu	37	5	176798942	176798942	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:176798942G>C	ENST00000408923.3	+	15	1755	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	523					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGGAAAGAGGACCTGGT	0.662																																					NSCLC(47;353 1896 28036)												0													86.0	104.0	98.0					5																	176798942		1960	4142	6102	SO:0001583	missense	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1567G>C	5.37:g.176798942G>C	ENSP00000386229:p.Glu523Gln		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E523Q	ENST00000408923.3	37	c.1567	CCDS43405.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.278207|4.278207	0.80692|0.80692	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000408923;ENST00000336477|ENST00000511890	T|T	0.55052|0.63096	0.54|-0.02	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.286495|.	0.37053|.	N|.	0.002274|.	T|T	0.65026|0.65026	0.2652|0.2652	L|L	0.34521|0.34521	1.04|1.04	0.44492|0.44492	D|D	0.997431|0.997431	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.998;0.994|.	T|T	0.68953|0.68953	-0.5273|-0.5273	10|7	0.72032|0.87932	D|D	0.01|0	-29.0251|-29.0251	16.3702|16.3702	0.83355|0.83355	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;371;523|.	B3KUX0;O43566-5;O43566|.	.;.;RGS14_HUMAN|.	Q|N	523;304|393	ENSP00000386229:E523Q|ENSP00000422329:K393N	ENSP00000336864:E304Q|ENSP00000422329:K393N	E|K	+|+	1|3	0|2	RGS14|RGS14	176731548|176731548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	5.835000|5.835000	0.69368|0.69368	2.537000|2.537000	0.85549|0.85549	0.644000|0.644000	0.83932|0.83932	GAG|AAG	RGS14	-	NULL		0.662	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	G	NM_006480		176798942	+1	no_errors	ENST00000408923	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF19A	25897	genome.wustl.edu	37	8	101300374	101300374	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:101300374G>C	ENST00000519449.1	-	3	345	c.29C>G	c.(28-30)tCt>tGt	p.S10C	RNF19A_ENST00000341084.2_Missense_Mutation_p.S10C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	10					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTATATTTAGAGATAAAACC	0.353																																																	0													40.0	41.0	41.0					8																	101300374		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.29C>G	8.37:g.101300374G>C	ENSP00000428968:p.Ser10Cys		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.S10C	ENST00000519449.1	37	c.29	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	G	5.788	0.329745	0.10956	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167;ENST00000522369;ENST00000432381;ENST00000523481	D;D	0.83837	-1.77;-1.77	5.83	-2.53	0.06326	.	0.910659	0.09394	N	0.808213	T	0.69913	0.3164	N	0.14661	0.345	0.18873	N	0.999986	B	0.20164	0.042	B	0.21917	0.037	T	0.55566	-0.8121	10	0.54805	T	0.06	.	13.0159	0.58757	0.7578:0.0:0.2422:0.0	.	10	Q9NV58	RN19A_HUMAN	C	10	ENSP00000428968:S10C;ENSP00000342667:S10C	ENSP00000342667:S10C	S	-	2	0	RNF19A	101369550	0.171000	0.23029	0.812000	0.32479	0.992000	0.81027	0.067000	0.14510	-0.633000	0.05545	0.650000	0.86243	TCT	RNF19A	-	NULL		0.353	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	G	NM_015435		101300374	-1	no_errors	ENST00000341084	ensembl	human	known	70_37	missense	SNP	0.177	C
RNPEPL1	57140	genome.wustl.edu	37	2	241517259	241517259	+	Missense_Mutation	SNP	G	G	A	rs570330123		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:241517259G>A	ENST00000270357.4	+	11	2028	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	479					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTTGGGGACGAGGCCCCCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.001																0													32.0	28.0	29.0					2																	241517259		2203	4300	6503	SO:0001583	missense	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1435G>A	2.37:g.241517259G>A	ENSP00000270357:p.Glu479Lys		Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.E479K	ENST00000270357.4	37	c.1435		2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858664	0.32791	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.45276	3.54;0.9	4.11	4.11	0.48088	.	0.382568	0.21067	U	0.080721	T	0.24661	0.0598	N	0.17082	0.46	0.31852	N	0.622132	B;B	0.17667	0.023;0.0	B;B	0.06405	0.002;0.0	T	0.15435	-1.0437	10	0.39692	T	0.17	-3.1573	7.8504	0.29451	0.1169:0.0:0.8831:0.0	.	385;479	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	K	479;232	ENSP00000270357:E479K;ENSP00000403319:E232K	ENSP00000270357:E479K	E	+	1	0	RNPEPL1	241165932	1.000000	0.71417	0.708000	0.30435	0.736000	0.42039	3.678000	0.54627	1.844000	0.53588	0.460000	0.39030	GAG	RNPEPL1	-	NULL		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241517259	+1	no_errors	ENST00000270357	ensembl	human	known	70_37	missense	SNP	0.815	A
ROS1	6098	genome.wustl.edu	37	6	117650503	117650503	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:117650503G>A	ENST00000368508.3	-	32	5553	c.5355C>T	c.(5353-5355)atC>atT	p.I1785I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I1779I	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1785	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTATCTCAAGGATATAGTATG	0.308			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													139.0	138.0	139.0					6																	117650503		2202	4299	6501	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5355C>T	6.37:g.117650503G>A			Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I1785	ENST00000368508.3	37	c.5355	CCDS5116.1	6																																																																																			ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.308	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117650503	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	silent	SNP	0.998	A
RPE65	6121	genome.wustl.edu	37	1	68903995	68903995	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:68903995C>G	ENST00000262340.5	-	10	1056	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	335					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TAAACAAACTCAAATCTGCAA	0.358																																																	0													42.0	45.0	44.0					1																	68903995		2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1003G>C	1.37:g.68903995C>G	ENSP00000262340:p.Glu335Gln		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.E335Q	ENST00000262340.5	37	c.1003	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403614	0.62288	.	.	ENSG00000116745	ENST00000262340	D	0.95035	-3.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	M	0.68952	2.095	0.80722	D	1	P	0.34780	0.468	B	0.40228	0.323	D	0.91128	0.4935	10	0.18276	T	0.48	-2.7948	19.6178	0.95640	0.0:1.0:0.0:0.0	.	335	Q16518	RPE65_HUMAN	Q	335	ENSP00000262340:E335Q	ENSP00000262340:E335Q	E	-	1	0	RPE65	68676583	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.396000	0.79891	2.638000	0.89438	0.591000	0.81541	GAG	RPE65	-	pfam_Carotenoid_Oase		0.358	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	C	NM_000329		68903995	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	1.000	G
RPGR	6103	genome.wustl.edu	37	X	38146664	38146664	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:38146664C>T	ENST00000339363.3	-	14	2370	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	735	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCTATTGCCTCAGGCTGCTGG	0.413																																																	0																																										SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2203G>A	X.37:g.38146664C>T	ENSP00000343671:p.Glu735Lys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E735K	ENST00000339363.3	37	c.2203		X	.	.	.	.	.	.	.	.	.	.	c	2.431	-0.330853	0.05314	.	.	ENSG00000156313	ENST00000339363	T	0.17528	2.27	4.59	-1.83	0.07833	.	.	.	.	.	T	0.10637	0.0260	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.39099	-0.9630	5	.	.	.	.	5.1082	0.14794	0.0:0.191:0.3319:0.4771	.	.	.	.	K	735	ENSP00000343671:E735K	.	E	-	1	0	RPGR	38031608	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.449000	0.06812	-0.126000	0.11682	-0.336000	0.08194	GAG	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.413	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38146664	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	missense	SNP	0.000	T
RRNAD1	51093	genome.wustl.edu	37	1	156704179	156704179	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:156704179C>G	ENST00000368216.4	+	6	1645	c.1015C>G	c.(1015-1017)Cac>Gac	p.H339D	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	339						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCTTCGAACTCACTGCTACCG	0.652																																																	0													31.0	27.0	29.0					1																	156704179		2203	4299	6502	SO:0001583	missense	51093			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1015C>G	1.37:g.156704179C>G	ENSP00000357199:p.His339Asp		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.H339D	ENST00000368216.4	37	c.1015	CCDS1154.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564025	0.86335	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	T	0.50001	0.76	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.88979	2.995	0.80722	D	1	D	0.69078	0.997	P	0.59487	0.858	T	0.72818	-0.4178	10	0.62326	D	0.03	-22.3123	17.5425	0.87852	0.0:1.0:0.0:0.0	.	339	Q96FB5	RRNAD_HUMAN	D	339;318	ENSP00000357199:H339D	ENSP00000357199:H339D	H	+	1	0	RRNAD1	154970803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.133000	0.77259	2.577000	0.86979	0.561000	0.74099	CAC	RRNAD1	-	NULL		0.652	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1	C	NM_015997		156704179	+1	no_errors	ENST00000368216	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS6KC1	26750	genome.wustl.edu	37	1	213446895	213446895	+	3'UTR	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:213446895C>G	ENST00000366960.3	+	0	4269				RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTATCAGTTTCTACCATTGCT	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.*918C>G	1.37:g.213446895C>G			B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	RNA	SNP	-	NULL	ENST00000366960.3	37	NULL	CCDS1513.1	1																																																																																			RPS6KC1	-	-		0.358	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	C	NM_012424		213446895	+1	no_errors	ENST00000490299	ensembl	human	known	70_37	rna	SNP	0.065	G
RSPRY1	89970	genome.wustl.edu	37	16	57254652	57254652	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:57254652G>A	ENST00000537866.1	+	9	1783	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E304K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGTTTTAAAAGAAGGTAGACA	0.443																																																	0													120.0	105.0	110.0					16																	57254652		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.910G>A	16.37:g.57254652G>A	ENSP00000443176:p.Glu304Lys		Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E304K	ENST00000537866.1	37	c.910	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826497	0.90955	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.64803	-0.12;-0.12	5.43	5.43	0.79202	B30.2/SPRY domain (1);	0.095551	0.64402	D	0.000001	T	0.59783	0.2219	M	0.64404	1.975	0.80722	D	1	P	0.45348	0.856	B	0.36186	0.219	T	0.64580	-0.6374	10	0.41790	T	0.15	.	19.2689	0.94000	0.0:0.0:1.0:0.0	.	304	Q96DX4	RSPRY_HUMAN	K	304	ENSP00000377942:E304K;ENSP00000443176:E304K	ENSP00000377942:E304K	E	+	1	0	RSPRY1	55812153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.758000	0.98927	2.546000	0.85860	0.655000	0.94253	GAA	RSPRY1	-	pfscan_B30.2/SPRY		0.443	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	G	NM_133368		57254652	+1	no_errors	ENST00000394420	ensembl	human	known	70_37	missense	SNP	1.000	A
SBSPON	157869	genome.wustl.edu	37	8	73979371	73979371	+	3'UTR	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:73979371G>C	ENST00000297354.6	-	0	1204				SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing						immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										AGAGCTTTTTGAGTGGGTCTT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	157869				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.*205C>G	8.37:g.73979371G>C			A8KAA5|Q96J64	RNA	SNP	-	NULL	ENST00000297354.6	37	NULL	CCDS43747.2	8																																																																																			SBSPON	-	-		0.408	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBSPON	HGNC	protein_coding	OTTHUMT00000347584.2	G	NM_153225		73979371	-1	no_errors	ENST00000519697	ensembl	human	known	70_37	rna	SNP	0.000	C
RUNX1T1	862	genome.wustl.edu	37	8	93026941	93026941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:93026941G>A	ENST00000523629.1	-	4	788	c.334C>T	c.(334-336)Caa>Taa	p.Q112*	RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.Q85*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000521553.1_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.Q85*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.Q112*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.Q123*|RUNX1T1_ENST00000522163.1_5'Flank	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	112					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCAGCTGTTGATTAGCCAGA	0.557																																																	0													62.0	63.0	63.0					8																	93026941		2203	4300	6503	SO:0001587	stop_gained	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.334C>T	8.37:g.93026941G>A	ENSP00000428543:p.Gln112*		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.Q123*	ENST00000523629.1	37	c.367	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426139	0.83667	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.3419	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	112;85;112;75;75;75;123;85;75;112;75;112;75;112;112;85;75;75;112;112	.	ENSP00000265814:Q112X	Q	-	1	0	RUNX1T1	93096117	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.878000	0.98634	0.650000	0.86243	CAA	RUNX1T1	-	NULL		0.557	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93026941	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SCAMP3	10067	genome.wustl.edu	37	1	155226555	155226555	+	Silent	SNP	C	C	T	rs368184754		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:155226555C>T	ENST00000302631.3	-	8	914	c.807G>A	c.(805-807)ccG>ccA	p.P269P	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000355379.3_Silent_p.P243P|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	269					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTTGCCCTTCGGCACCACCA	0.562																																																	0								C	,	0,4406		0,0,2203	86.0	67.0	73.0		807,729	0.3	0.1	1		73	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	SCAMP3	NM_005698.3,NM_052837.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	269/348,243/322	155226555	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.807G>A	1.37:g.155226555C>T			A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Silent	SNP	pfam_SCAMP	p.P269	ENST00000302631.3	37	c.807	CCDS1105.1	1																																																																																			SCAMP3	-	pfam_SCAMP		0.562	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155226555	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	silent	SNP	0.416	T
SCN9A	6335	genome.wustl.edu	37	2	167055975	167055975	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:167055975G>A	ENST00000409435.1	-	26	5173	c.5174C>T	c.(5173-5175)tCa>tTa	p.S1725L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1726L|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1726L|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1714L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1725					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)	TCCTTCAACTGAACTTCCAGG	0.423																																																	0													245.0	263.0	257.0					2																	167055975		2202	4300	6502	SO:0001583	missense	6335			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.5174C>T	2.37:g.167055975G>A	ENSP00000386330:p.Ser1725Leu		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	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.S1726L	ENST00000409435.1	37	c.5177	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133459	0.37630	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96265	-3.93;-3.95;-3.96;-3.95	5.86	4.98	0.66077	.	0.150110	0.32093	N	0.006591	D	0.94046	0.8092	M	0.64170	1.965	0.30426	N	0.777643	B	0.13145	0.007	B	0.19946	0.027	D	0.91042	0.4872	10	0.66056	D	0.02	.	6.8548	0.24034	0.1432:0.0:0.7139:0.1429	.	1714	E7EUN6	.	L	1714;1726;1726;1725	ENSP00000386306:S1714L;ENSP00000364536:S1726L;ENSP00000304748:S1726L;ENSP00000386330:S1725L	ENSP00000304748:S1726L	S	-	2	0	SCN9A	166764221	0.005000	0.15991	0.921000	0.36526	0.996000	0.88848	1.615000	0.36922	1.490000	0.48466	0.655000	0.94253	TCA	SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	G	NM_002977		167055975	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	0.653	A
SCRN3	79634	genome.wustl.edu	37	2	175265809	175265809	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:175265809G>C	ENST00000272732.6	+	4	515	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	SCRN3_ENST00000409673.3_Missense_Mutation_p.E138Q	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	145							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAATTGCACAGAGGGTAGAAT	0.428																																																	0													77.0	76.0	76.0					2																	175265809		2203	4300	6503	SO:0001583	missense	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.433G>C	2.37:g.175265809G>C	ENSP00000272732:p.Glu145Gln		B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	pfam_Peptidase_C69	p.E145Q	ENST00000272732.6	37	c.433	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673489	0.88445	.	.	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000548031	T;T;T;T	0.21031	2.07;2.86;2.87;2.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55457	-0.8138	10	0.51188	T	0.08	-18.004	19.8987	0.96976	0.0:0.0:1.0:0.0	.	138;145	B4DI11;Q0VDG4	.;SCRN3_HUMAN	Q	145;138;145;145	ENSP00000396884:E145Q;ENSP00000387142:E138Q;ENSP00000272732:E145Q;ENSP00000446727:E145Q	ENSP00000272732:E145Q	E	+	1	0	SCRN3	174974055	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	9.752000	0.98900	2.782000	0.95742	0.579000	0.79373	GAG	SCRN3	-	pfam_Peptidase_C69		0.428	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	G	NM_024583		175265809	+1	no_errors	ENST00000272732	ensembl	human	known	70_37	missense	SNP	1.000	C
SETDB1	9869	genome.wustl.edu	37	1	150917615	150917615	+	Intron	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:150917615G>C	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368962.2_Missense_Mutation_p.E391Q|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						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)			TTTGGAGGCAGAGGTTGGTGG	0.488																																																	0													36.0	37.0	37.0					1																	150917615		2203	4300	6503	SO:0001627	intron_variant	9869			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.1140+31G>C	1.37:g.150917615G>C			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	smart_Tudor	p.E391Q	ENST00000271640.5	37	c.1171	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405212	0.42613	.	.	ENSG00000143379	ENST00000368962	T	0.46451	0.87	4.51	3.56	0.40772	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.23636	N	0.997237	B	0.13145	0.007	B	0.14023	0.01	T	0.26538	-1.0100	7	.	.	.	.	8.8654	0.35282	0.1111:0.0:0.8889:0.0	.	391	Q15047-2	.	Q	391	ENSP00000357958:E391Q	.	E	+	1	0	SETDB1	149184239	0.009000	0.17119	0.007000	0.13788	0.213000	0.24496	1.863000	0.39459	1.064000	0.40671	0.650000	0.86243	GAG	SETDB1	-	smart_Tudor		0.488	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150917615	+1	no_errors	ENST00000368962	ensembl	human	known	70_37	missense	SNP	0.015	C
SLC12A9	56996	genome.wustl.edu	37	7	100463436	100463436	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:100463436G>A	ENST00000354161.3	+	14	2079	c.1954G>A	c.(1954-1956)Gac>Aac	p.D652N	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	652					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAGCCTGCAGACAGCACCAG	0.642																																																	0													60.0	58.0	59.0					7																	100463436		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1954G>A	7.37:g.100463436G>A	ENSP00000275730:p.Asp652Asn		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	pfam_AA-permease_dom	p.D652N	ENST00000354161.3	37	c.1954	CCDS5707.1	7	.	.	.	.	.	.	.	.	.	.	G	8.261	0.811100	0.16537	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91068	-2.78	5.44	3.63	0.41609	.	0.752810	0.12750	N	0.442240	T	0.81777	0.4894	N	0.21194	0.64	0.23227	N	0.998083	B	0.09022	0.002	B	0.06405	0.002	T	0.64449	-0.6405	10	0.15066	T	0.55	.	8.5673	0.33547	0.081:0.0:0.7666:0.1524	.	652	Q9BXP2	S12A9_HUMAN	N	652;278	ENSP00000275730:D652N	ENSP00000275730:D652N	D	+	1	0	SLC12A9	100301372	0.001000	0.12720	0.001000	0.08648	0.535000	0.34838	1.076000	0.30729	0.665000	0.31066	0.555000	0.69702	GAC	SLC12A9	-	NULL		0.642	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000342837.1	G	NM_020246		100463436	+1	no_errors	ENST00000354161	ensembl	human	known	70_37	missense	SNP	0.006	A
SLC18A3	6572	genome.wustl.edu	37	10	50819881	50819881	+	Silent	SNP	T	T	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:50819881T>G	ENST00000374115.3	+	1	1535	c.1095T>G	c.(1093-1095)gcT>gcG	p.A365A	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	365					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTGGGCTGGCTGTGATCGGCG	0.672																																																	0													32.0	34.0	33.0					10																	50819881		2199	4297	6496	SO:0001819	synonymous_variant	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1095T>G	10.37:g.50819881T>G			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A365	ENST00000374115.3	37	c.1095	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.672	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	T	NM_003055		50819881	+1	no_errors	ENST00000374115	ensembl	human	known	70_37	silent	SNP	0.995	G
SLC27A5	10998	genome.wustl.edu	37	19	59010588	59010588	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:59010588C>T	ENST00000263093.2	-	8	1777		c.e8-1		SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000601355.1_Splice_Site	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5						bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCTTCCATCTGCAAGGAGG	0.657																																																	0													58.0	51.0	53.0					19																	59010588		2203	4300	6503	SO:0001630	splice_region_variant	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1668-1G>A	19.37:g.59010588C>T			B3KVP6|B4DPQ1	Splice_Site	SNP	-	e8-1	ENST00000263093.2	37	c.1668-1	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.736218	0.96865	.	.	ENSG00000083807	ENST00000263093	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3774	0.66886	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC27A5	63702400	1.000000	0.71417	0.566000	0.28421	0.807000	0.45602	5.159000	0.64923	2.538000	0.85594	0.563000	0.77884	.	SLC27A5	-	-		0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254	Intron	59010588	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	splice_site	SNP	0.997	T
SLC2A1	6513	genome.wustl.edu	37	1	43395647	43395647	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:43395647G>A	ENST00000426263.3	-	5	754	c.576C>T	c.(574-576)atC>atT	p.I192I	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	192					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGATGAAGATGATGCTCAGCA	0.652																																																	0													79.0	76.0	77.0					1																	43395647		2203	4300	6503	SO:0001819	synonymous_variant	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.576C>T	1.37:g.43395647G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.I192	ENST00000426263.3	37	c.576	CCDS477.1	1																																																																																			SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.652	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43395647	-1	no_errors	ENST00000426263	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC2A8	29988	genome.wustl.edu	37	9	130164919	130164919	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:130164919G>A	ENST00000373371.3	+	5	699	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000373360.3_Missense_Mutation_p.E204K	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	204					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CTTCATGCCCGAGACCCCGCG	0.706																																																	0																																										SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.610G>A	9.37:g.130164919G>A	ENSP00000362469:p.Glu204Lys		Q8WUZ9|Q9NSC4	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.E204K	ENST00000373371.3	37	c.610	CCDS6870.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.163908	0.94727	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000419917;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	T;T;T;T;T;T;T	0.81330	-0.28;-1.48;-0.28;-0.28;-1.48;-1.48;-1.48	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93717	0.7029	10	0.87932	D	0	.	16.7714	0.85538	0.0:0.0:1.0:0.0	.	204;204	Q5VVV9;Q9NY64	.;GTR8_HUMAN	K	204;41;135;204;69;69;69;43	ENSP00000362469:E204K;ENSP00000392434:E41K;ENSP00000411726:E135K;ENSP00000362458:E204K;ENSP00000404893:E69K;ENSP00000389070:E69K;ENSP00000391213:E43K	ENSP00000362448:E69K	E	+	1	0	SLC2A8	129204740	1.000000	0.71417	0.992000	0.48379	0.818000	0.46254	7.155000	0.77445	2.250000	0.74265	0.563000	0.77884	GAG	SLC2A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.706	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1	G	NM_014580		130164919	+1	no_errors	ENST00000373371	ensembl	human	known	70_37	missense	SNP	0.999	A
SLC34A3	142680	genome.wustl.edu	37	9	140128914	140128914	+	Silent	SNP	C	C	T	rs113568956	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140128914C>T	ENST00000538474.1	+	11	1364	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SLC34A3_ENST00000361134.2_Silent_p.L380L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	380					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGTCCTCGCGGGCGCCG	0.716													C|||	8	0.00159744	0.0008	0.0	5008	,	,		10094	0.0		0.007	False		,,,				2504	0.0																0								C	,,	1,4237		0,1,2118	8.0	11.0	10.0		1140,1140,1140	-6.8	0.3	9	dbSNP_132	10	36,8338		0,36,4151	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,37,6269	TT,TC,CC		0.4299,0.0236,0.2934	,,	380/600,380/600,380/600	140128914	37,12575	2119	4187	6306	SO:0001819	synonymous_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1140C>T	9.37:g.140128914C>T			A2BFA1	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.L380	ENST00000538474.1	37	c.1140	CCDS7038.1	9																																																																																			SLC34A3	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	C	NM_080877		140128914	+1	no_errors	ENST00000361134	ensembl	human	known	70_37	silent	SNP	0.749	T
SLC38A1	81539	genome.wustl.edu	37	12	46599882	46599882	+	Silent	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:46599882C>G	ENST00000398637.5	-	9	1321	c.627G>C	c.(625-627)ctG>ctC	p.L209L	SLC38A1_ENST00000439706.1_Silent_p.L209L|SLC38A1_ENST00000552197.1_Silent_p.L209L|SLC38A1_ENST00000546893.1_Silent_p.L209L|SLC38A1_ENST00000549049.1_Silent_p.L209L|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	209					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCAAGAGACACAGAGGGAGAA	0.403																																																	0													89.0	93.0	91.0					12																	46599882		1920	4141	6061	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.627G>C	12.37:g.46599882C>G			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	pfam_AA_transpt_TM	p.L209	ENST00000398637.5	37	c.627	CCDS41774.1	12																																																																																			SLC38A1	-	pfam_AA_transpt_TM		0.403	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	C			46599882	-1	no_errors	ENST00000398637	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC39A6	25800	genome.wustl.edu	37	18	33706184	33706184	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:33706184C>G	ENST00000590986.1	-	2	1076	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	SLC39A6_ENST00000269187.5_Missense_Mutation_p.E263Q|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	263					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CATCTTACCTCCTGAGGATTT	0.413																																																	0													124.0	124.0	124.0					18																	33706184		1882	4111	5993	SO:0001583	missense	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.787G>C	18.37:g.33706184C>G	ENSP00000465915:p.Glu263Gln		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.E263Q	ENST00000590986.1	37	c.787	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517221	0.44763	.	.	ENSG00000141424	ENST00000269187	T	0.22336	1.96	5.83	4.91	0.64330	.	0.209752	0.40908	D	0.000997	T	0.19886	0.0478	L	0.45581	1.43	0.80722	D	1	B	0.22909	0.077	B	0.22152	0.038	T	0.01998	-1.1232	10	0.40728	T	0.16	-16.3109	12.072	0.53622	0.0:0.8272:0.1728:0.0	.	263	Q13433	S39A6_HUMAN	Q	263	ENSP00000269187:E263Q	ENSP00000269187:E263Q	E	-	1	0	SLC39A6	31960182	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.173000	0.50839	2.766000	0.95052	0.491000	0.48974	GAG	SLC39A6	-	NULL		0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	C			33706184	-1	no_errors	ENST00000269187	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC6A13	6540	genome.wustl.edu	37	12	344275	344275	+	Missense_Mutation	SNP	G	G	A	rs142344531		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:344275G>A	ENST00000343164.4	-	7	864	c.812C>T	c.(811-813)aCg>aTg	p.T271M	SLC6A13_ENST00000445055.2_Missense_Mutation_p.T179M	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	271					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCACAGACGCGTGAGGTTTGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17764	0.0		0.001	False		,,,				2504	0.0																0								G	MET/THR,MET/THR	0,4406		0,0,2203	116.0	105.0	109.0		536,812	4.4	0.9	12	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	179/511,271/603	344275	2,13004	2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.812C>T	12.37:g.344275G>A	ENSP00000339260:p.Thr271Met		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.T271M	ENST00000343164.4	37	c.812	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151053	0.57151	0.0	2.33E-4	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.74842	-0.88;-0.88	4.37	4.37	0.52481	.	0.433031	0.25500	N	0.030252	D	0.84786	0.5549	M	0.84082	2.675	0.37426	D	0.913841	P;D;D	0.69078	0.936;0.997;0.994	P;P;D	0.63283	0.767;0.866;0.913	D	0.88628	0.3167	10	0.62326	D	0.03	.	13.0553	0.58977	0.0:0.2829:0.7171:0.0	.	179;250;271	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	M	179;250;271	ENSP00000407104:T179M;ENSP00000339260:T271M	ENSP00000318097:T250M	T	-	2	0	SLC6A13	214536	0.988000	0.35896	0.937000	0.37676	0.922000	0.55478	2.295000	0.43576	2.269000	0.75478	0.561000	0.74099	ACG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.567	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	G	NM_016615		344275	-1	no_errors	ENST00000343164	ensembl	human	known	70_37	missense	SNP	0.954	A
SLC9A9	285195	genome.wustl.edu	37	3	143082369	143082369	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:143082369C>G	ENST00000316549.6	-	14	1769	c.1561G>C	c.(1561-1563)Gag>Cag	p.E521Q		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	521					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGAGCACTCTCTGCTTTCGTC	0.363																																																	0													149.0	142.0	144.0					3																	143082369		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1561G>C	3.37:g.143082369C>G	ENSP00000320246:p.Glu521Gln		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E521Q	ENST00000316549.6	37	c.1561	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502089	0.64298	.	.	ENSG00000181804	ENST00000316549	T	0.32023	1.47	5.71	5.71	0.89125	.	0.144351	0.47455	D	0.000238	T	0.46502	0.1396	M	0.85462	2.755	0.54753	D	0.999981	B	0.29531	0.247	B	0.35931	0.214	T	0.41770	-0.9490	10	0.29301	T	0.29	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	521	Q8IVB4	SL9A9_HUMAN	Q	521	ENSP00000320246:E521Q	ENSP00000320246:E521Q	E	-	1	0	SLC9A9	144565059	1.000000	0.71417	0.947000	0.38551	0.339000	0.28857	5.506000	0.66993	2.709000	0.92574	0.655000	0.94253	GAG	SLC9A9	-	prints_Na/H_exchanger_6,tigrfam_NaH_exchanger		0.363	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	C	NM_173653		143082369	-1	no_errors	ENST00000316549	ensembl	human	known	70_37	missense	SNP	0.998	G
SLCO1C1	53919	genome.wustl.edu	37	12	20868094	20868094	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:20868094C>G	ENST00000266509.2	+	6	919	c.551C>G	c.(550-552)tCt>tGt	p.S184C	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S184C|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S66C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S184C|SLCO1C1_ENST00000540354.1_Intron	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	184					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GACACTAGCTCTTCCATGTGG	0.393																																																	0													211.0	207.0	209.0					12																	20868094		2203	4300	6503	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.551C>G	12.37:g.20868094C>G	ENSP00000266509:p.Ser184Cys		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S184C	ENST00000266509.2	37	c.551	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948180	0.53186	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.60040	0.22;0.22;0.22;0.95	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.417842	0.26470	N	0.024192	T	0.75474	0.3854	M	0.87180	2.865	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.967;0.992;0.994	T	0.68834	-0.5304	10	0.59425	D	0.04	.	8.1706	0.31252	0.1574:0.7626:0.0:0.08	.	66;184;184	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	C	184;184;184;66	ENSP00000444149:S184C;ENSP00000266509:S184C;ENSP00000370964:S184C;ENSP00000444527:S66C	ENSP00000266509:S184C	S	+	2	0	SLCO1C1	20759361	0.041000	0.20044	1.000000	0.80357	0.912000	0.54170	2.933000	0.48948	2.473000	0.83533	0.563000	0.77884	TCT	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	C	NM_017435		20868094	+1	no_errors	ENST00000381552	ensembl	human	known	70_37	missense	SNP	0.049	G
SLIT2	9353	genome.wustl.edu	37	4	20620402	20620402	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:20620402C>G	ENST00000504154.1	+	37	4612	c.4360C>G	c.(4360-4362)Cga>Gga	p.R1454G	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1467G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1450G|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1446G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1454	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATCTCTTGTCGAGGGGAAAG	0.433																																																	0													89.0	94.0	92.0					4																	20620402		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4360C>G	4.37:g.20620402C>G	ENSP00000422591:p.Arg1454Gly		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1454G	ENST00000504154.1	37	c.4360	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	14.27	2.483856	0.44147	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80994	-1.43;-1.44;-1.35;-1.41	6.07	6.07	0.98685	Cystine knot, C-terminal (1);	0.197974	0.45606	D	0.000356	D	0.82591	0.5070	M	0.74258	2.255	0.80722	D	1	B;B	0.21905	0.018;0.062	B;B	0.24269	0.052;0.019	T	0.76790	-0.2829	10	0.38643	T	0.18	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1446;1454	O94813-3;O94813	.;SLIT2_HUMAN	G	1446;1454;1467;1450;1450	ENSP00000427548:R1446G;ENSP00000422591:R1454G;ENSP00000273739:R1467G;ENSP00000422261:R1450G	ENSP00000273739:R1467G	R	+	1	2	SLIT2	20229500	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.738000	0.62073	2.884000	0.98904	0.655000	0.94253	CGA	SLIT2	-	pfscan_Cys_knot_C		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20620402	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	1.000	G
RC3H2	54542	genome.wustl.edu	37	9	125642499	125642499	+	Intron	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:125642499C>G	ENST00000373670.1	-	6	1561				RC3H2_ENST00000423239.2_Intron|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000335387.5_Intron|RC3H2_ENST00000357244.2_Intron|RC3H2_ENST00000373665.2_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AATACGTTTTCAAGTGTCTTC	0.303																																																	0													84.0	80.0	81.0					9																	125642499		876	1991	2867	SO:0001627	intron_variant	692206			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.961-95G>C	9.37:g.125642499C>G			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	RNA	SNP	-	NULL	ENST00000373670.1	37	NULL	CCDS43874.1	9																																																																																			SNORD90	-	-		0.303	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD90	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125642499	-1	no_errors	ENST00000391145	ensembl	human	known	70_37	rna	SNP	1.000	G
SORL1	6653	genome.wustl.edu	37	11	121500219	121500219	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:121500219G>C	ENST00000260197.7	+	48	6721	c.6592G>C	c.(6592-6594)Gat>Cat	p.D2198H	SORL1_ENST00000525532.1_Missense_Mutation_p.D1142H|SORL1_ENST00000532694.1_Missense_Mutation_p.D1044H|SORL1_ENST00000534286.1_Missense_Mutation_p.D1108H|SORL1_ENST00000527934.1_Missense_Mutation_p.D813H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2198					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATGATGAAGATGCCCCTAT	0.453																																																	0													186.0	174.0	178.0					11																	121500219		2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6592G>C	11.37:g.121500219G>C	ENSP00000260197:p.Asp2198His		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2198H	ENST00000260197.7	37	c.6592	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385090	0.82792	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.93811	-3.29;-3.02;-2.68;-2.73;-2.63	6.06	6.06	0.98353	.	0.139416	0.49916	D	0.000136	D	0.95576	0.8562	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	P;P	0.60789	0.879;0.879	D	0.95307	0.8408	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	813;2198	E9PKB0;Q92673	.;SORL_HUMAN	H	2198;1142;1044;1108;813	ENSP00000260197:D2198H;ENSP00000434634:D1142H;ENSP00000432131:D1044H;ENSP00000436447:D1108H;ENSP00000435405:D813H	ENSP00000260197:D2198H	D	+	1	0	SORL1	121005429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.192000	0.94947	2.882000	0.98803	0.655000	0.94253	GAT	SORL1	-	NULL		0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121500219	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	1.000	C
SPATA31A3	727830	genome.wustl.edu	37	9	40703031	40703031	+	Missense_Mutation	SNP	C	C	T	rs538838624	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:40703031C>T	ENST00000356699.5	+	4	717	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	230					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTCCCCTGCGGGACTCCAC	0.582													C|||	44	0.00878594	0.031	0.0014	5008	,	,		17284	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001583	missense	727830					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.688C>T	9.37:g.40703031C>T	ENSP00000349132:p.Arg230Trp			Missense_Mutation	SNP	NULL	p.R230W	ENST00000356699.5	37	c.688	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531515	0.13127	.	.	ENSG00000147926	ENST00000356699	T	0.04809	3.55	1.94	-1.5	0.08691	.	0.927636	0.08745	N	0.899951	T	0.04815	0.0130	L	0.59436	1.845	0.09310	N	1	B	0.19817	0.039	B	0.09377	0.004	T	0.44967	-0.9293	10	0.45353	T	0.12	4.561	0.73	0.00955	0.2415:0.3536:0.238:0.1669	.	230	Q5VYP0	F75A3_HUMAN	W	230	ENSP00000349132:R230W	ENSP00000349132:R230W	R	+	1	2	FAM75A3	40693031	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.631000	0.02026	-0.406000	0.07588	-0.268000	0.10319	CGG	SPATA31A3	-	NULL		0.582	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1	C	NM_001083124		40703031	+1	no_errors	ENST00000356699	ensembl	human	known	70_37	missense	SNP	0.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84603757	84603757	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:84603757G>A	ENST00000344803.2	+	1	71	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	8					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGTTTTCTGAACAGCTATA	0.493																																																	0													142.0	126.0	131.0					9																	84603757		1856	4103	5959	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.24G>A	9.37:g.84603757G>A				Silent	SNP	NULL	p.L8	ENST00000344803.2	37	c.24	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84603757	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	silent	SNP	0.001	A
SSR4	6748	genome.wustl.edu	37	X	153063931	153063931	+	3'UTR	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:153063931C>T	ENST00000320857.3	+	0	1649				SSR4_ENST00000370087.1_3'UTR|SSR4_ENST00000370085.3_3'UTR|SSR4_ENST00000370086.3_3'UTR|SSR4_ENST00000460616.1_3'UTR	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAATAAACATCACAGGACCTG	0.612																																																	0													14.0	13.0	13.0					X																	153063931		2137	4166	6303	SO:0001624	3_prime_UTR_variant	6748			BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"""translocon-associated protein delta"""	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.*43C>T	X.37:g.153063931C>T			A8K378|Q53XY1	RNA	SNP	-	NULL	ENST00000320857.3	37	NULL	CCDS14731.1	X																																																																																			SSR4	-	-		0.612	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR4	HGNC	protein_coding	OTTHUMT00000061029.1	C	NM_006280		153063931	+1	no_errors	ENST00000460616	ensembl	human	known	70_37	rna	SNP	0.160	T
SSUH2	51066	genome.wustl.edu	37	3	8675369	8675369	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:8675369G>A	ENST00000317371.4	-	11	1481	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SSUH2_ENST00000341795.3_Missense_Mutation_p.R86W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R108W|SSUH2_ENST00000415132.1_Missense_Mutation_p.R86W			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	86						cytoplasm (GO:0005737)											AGGGTCTGCCGCTTCAGCTCC	0.672																																																	0													13.0	14.0	14.0					3																	8675369		2184	4281	6465	SO:0001583	missense	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.256C>T	3.37:g.8675369G>A	ENSP00000324551:p.Arg86Trp		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.R108W	ENST00000317371.4	37	c.322	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825601	0.32237	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.45276	0.91;0.91;0.9;0.92;0.92	5.0	5.0	0.66597	.	0.273133	0.37053	N	0.002275	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	0.999991	B;P	0.43392	0.309;0.805	B;B	0.24269	0.019;0.052	T	0.27020	-1.0086	10	0.62326	D	0.03	-20.6842	13.8152	0.63287	0.0:0.0:1.0:0.0	.	108;86	F5H2S5;Q9Y2M2	.;CC032_HUMAN	W	86;86;86;108;108	ENSP00000339150:R86W;ENSP00000324551:R86W;ENSP00000410757:R86W;ENSP00000439378:R108W;ENSP00000401289:R108W	ENSP00000324551:R86W	R	-	1	2	C3orf32	8650369	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.380000	0.59581	2.319000	0.78375	0.484000	0.47621	CGG	SSUH2	-	NULL		0.672	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	G	NM_015931		8675369	-1	no_errors	ENST00000544814	ensembl	human	known	70_37	missense	SNP	1.000	A
STAG2	10735	genome.wustl.edu	37	X	123184049	123184049	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:123184049G>A	ENST00000371160.1	+	11	1197	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	STAG2_ENST00000371157.3_Missense_Mutation_p.E303K|STAG2_ENST00000371145.3_Missense_Mutation_p.E303K|STAG2_ENST00000354548.5_Missense_Mutation_p.E234K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.E303K|STAG2_ENST00000218089.9_Missense_Mutation_p.E303K	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	303	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCGATAGCTGAAATTCGAGC	0.358																																																	0													227.0	192.0	204.0					X																	123184049		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.907G>A	X.37:g.123184049G>A	ENSP00000360202:p.Glu303Lys		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.E303K	ENST00000371160.1	37	c.907	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.393527	0.96009	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.54	5.54	0.83059	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.91635	0.93;0.999	T	0.51568	-0.8689	10	0.36615	T	0.2	-7.3271	18.6859	0.91563	0.0:0.0:1.0:0.0	.	303;303	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	303;303;234;303;303;303;303	ENSP00000218089:E303K;ENSP00000397265:E303K;ENSP00000346555:E234K;ENSP00000360202:E303K;ENSP00000360199:E303K;ENSP00000360187:E303K;ENSP00000360186:E303K	ENSP00000218089:E303K	E	+	1	0	STAG2	123011730	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.813000	0.99286	2.444000	0.82710	0.600000	0.82982	GAA	STAG2	-	superfamily_ARM-type_fold		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	G	NM_006603		123184049	+1	no_errors	ENST00000218089	ensembl	human	known	70_37	missense	SNP	1.000	A
STK32A	202374	genome.wustl.edu	37	5	146703593	146703593	+	Silent	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:146703593C>A	ENST00000397936.3	+	5	726	c.393C>A	c.(391-393)gtC>gtA	p.V131V	STK32A_ENST00000398521.3_Silent_p.V131V|STK32A_ENST00000541094.1_Silent_p.V131V|STK32A_ENST00000398523.3_Silent_p.V131V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCTGGTCATGGCCCTGG	0.532																																																	0													57.0	60.0	59.0					5																	146703593		2141	4281	6422	SO:0001819	synonymous_variant	202374				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.393C>A	5.37:g.146703593C>A			B3KSY0	Silent	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.V131	ENST00000397936.3	37	c.393	CCDS47299.1	5																																																																																			STK32A	-	pfam_Prot_kinase_cat_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_cat_dom		0.532	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	HGNC	protein_coding	OTTHUMT00000373306.1	C	NM_145001		146703593	+1	no_errors	ENST00000397936	ensembl	human	known	70_37	silent	SNP	1.000	A
PHKG1	5260	genome.wustl.edu	37	7	56147257	56147257	+	IGR	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:56147257C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000275607.9_Silent_p.L198L|SUMF2_ENST00000342190.6_Missense_Mutation_p.S257L|SUMF2_ENST00000413756.1_Missense_Mutation_p.R326W|SUMF2_ENST00000437307.2_Silent_p.L217L|SUMF2_ENST00000395435.2_Silent_p.L221L|SUMF2_ENST00000434526.2_Silent_p.L305L|SUMF2_ENST00000395436.2_Silent_p.L290L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGACAACCTCGGTTTCCGCT	0.587											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(184;580 2064 5329 24177 35303)												0													117.0	113.0	115.0					7																	56147257		2203	4300	6503	SO:0001628	intergenic_variant	25870			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56147257C>T		1013	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.S257L	ENST00000297373.2	37	c.770	CCDS5525.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.206180|2.206180	0.39003|0.39003	.|.	.|.	ENSG00000129103|ENSG00000129103	ENST00000413756|ENST00000342190	D|D	0.91577|0.91464	-2.87|-2.85	5.26|5.26	-10.5|-10.5	0.00291|0.00291	.|.	.|2.065410	.|0.02758	.|N	.|0.118241	T|T	0.77916|0.77916	0.4202|0.4202	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.51309|0.51309	-0.8722|-0.8722	6|8	0.87932|.	D|.	0|.	-24.9252|-24.9252	3.642|3.642	0.08170|0.08170	0.0917:0.2591:0.4127:0.2365|0.0917:0.2591:0.4127:0.2365	.|.	.|220;257	.|Q8NBJ7-4;F8WA42	.|.;.	W|L	326|257	ENSP00000406445:R326W|ENSP00000341938:S257L	ENSP00000406445:R326W|.	R|S	+|+	1|2	2|0	SUMF2|SUMF2	56114751|56114751	0.996000|0.996000	0.38824|0.38824	0.674000|0.674000	0.29902|0.29902	0.296000|0.296000	0.27459|0.27459	0.259000|0.259000	0.18405|0.18405	-1.923000|-1.923000	0.01065|0.01065	-2.624000|-2.624000	0.00155|0.00155	CGG|TCG	SUMF2	-	NULL		0.587	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000251587.1	C	NM_006213		56147257	+1	no_errors	ENST00000342190	ensembl	human	known	70_37	missense	SNP	0.803	T
SYN3	8224	genome.wustl.edu	37	22	32914295	32914295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:32914295G>A	ENST00000358763.2	-	13	1587	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	SYN3_ENST00000332840.5_Nonsense_Mutation_p.Q449*|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	449	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCTGGGGCTGAGGAGACTGA	0.532																																																	0													46.0	56.0	53.0					22																	32914295		2203	4300	6503	SO:0001587	stop_gained	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1345C>T	22.37:g.32914295G>A	ENSP00000351614:p.Gln449*		B1B1F9	Nonsense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.Q449*	ENST00000358763.2	37	c.1345	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	G	40	7.991316	0.98599	.	.	ENSG00000185666	ENST00000358763;ENST00000332840	.	.	.	5.86	5.86	0.93980	.	0.467728	0.22162	N	0.063769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.7811	20.1772	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	X	449	.	ENSP00000330219:Q449X	Q	-	1	0	SYN3	31244295	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.600000	0.61083	2.778000	0.95560	0.655000	0.94253	CAG	SYN3	-	NULL		0.532	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	G			32914295	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TBR1	10716	genome.wustl.edu	37	2	162275534	162275534	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:162275534C>T	ENST00000389554.3	+	4	1418	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	TBR1_ENST00000410035.1_Silent_p.I80I	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	367					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						CTCAGTTCATCGCCGTCACCG	0.642																																																	0													98.0	94.0	95.0					2																	162275534		2203	4300	6503	SO:0001819	synonymous_variant	10716			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.1101C>T	2.37:g.162275534C>T			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.I367	ENST00000389554.3	37	c.1101	CCDS33310.1	2																																																																																			TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.642	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	C	NM_006593		162275534	+1	no_errors	ENST00000389554	ensembl	human	known	70_37	silent	SNP	1.000	T
TBXAS1	6916	genome.wustl.edu	37	7	139717537	139717537	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:139717537G>A	ENST00000336425.5	+	16	1820	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	TBXAS1_ENST00000416849.2_Silent_p.R524R|TBXAS1_ENST00000425687.1_Silent_p.R410R|TBXAS1_ENST00000436047.2_Silent_p.R478R|TBXAS1_ENST00000448866.1_Silent_p.R477R|TBXAS1_ENST00000263552.6_Silent_p.R478R|TBXAS1_ENST00000458722.1_Silent_p.R523R|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000414508.2_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	477					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCGGCCCACGGAGCTGCCTCG	0.667																																																	0													48.0	53.0	52.0					7																	139717537		2203	4300	6503	SO:0001819	synonymous_variant	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1431G>A	7.37:g.139717537G>A			B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R524	ENST00000336425.5	37	c.1572		7																																																																																			TBXAS1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B		0.667	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1	G			139717537	+1	no_errors	ENST00000416849	ensembl	human	known	70_37	silent	SNP	0.994	A
TCERG1	10915	genome.wustl.edu	37	5	145862183	145862183	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:145862183G>A	ENST00000296702.5	+	13	1953	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	TCERG1_ENST00000394421.2_Missense_Mutation_p.E618K	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	639					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACTCAGAGAAAGAAGC	0.368																																																	0													47.0	48.0	47.0					5																	145862183		2202	4300	6502	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1915G>A	5.37:g.145862183G>A	ENSP00000296702:p.Glu639Lys		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.E639K	ENST00000296702.5	37	c.1915	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939137	0.34189	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.63255	-0.03;1.74	5.95	5.95	0.96441	.	0.140648	0.64402	D	0.000005	T	0.70168	0.3193	M	0.65975	2.015	0.80722	D	1	P;P	0.51791	0.916;0.948	P;P	0.50109	0.631;0.533	T	0.64470	-0.6400	10	0.21540	T	0.41	-10.5645	20.3719	0.98893	0.0:0.0:1.0:0.0	.	618;639	O14776-2;O14776	.;TCRG1_HUMAN	K	639;618	ENSP00000296702:E639K;ENSP00000377943:E618K	ENSP00000296702:E639K	E	+	1	0	TCERG1	145842376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.826000	0.97356	0.491000	0.48974	GAG	TCERG1	-	NULL		0.368	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	G	NM_001040006		145862183	+1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	A
TCF20	6942	genome.wustl.edu	37	22	42609826	42609826	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:42609826C>G	ENST00000359486.3	-	1	1622	c.1486G>C	c.(1486-1488)Gat>Cat	p.D496H	TCF20_ENST00000335626.4_Missense_Mutation_p.D496H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTGCAGCTATCTGCTTTCTTG	0.498																																																	0													150.0	162.0	158.0					22																	42609826		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1486G>C	22.37:g.42609826C>G	ENSP00000352463:p.Asp496His		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.D496H	ENST00000359486.3	37	c.1486	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009655	0.54361	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.34667	1.35;1.35	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.52041	-0.8628	10	0.72032	D	0.01	-23.1401	20.2985	0.98592	0.0:1.0:0.0:0.0	.	496;496	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	496	ENSP00000352463:D496H;ENSP00000335561:D496H	ENSP00000335561:D496H	D	-	1	0	TCF20	40939770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.060000	0.64312	2.793000	0.96121	0.655000	0.94253	GAT	TCF20	-	NULL		0.498	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42609826	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	G
TENM4	26011	genome.wustl.edu	37	11	78412572	78412572	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:78412572C>T	ENST00000278550.7	-	28	5548	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1696					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGTACTTACTCATAAAATGTT	0.373																																																	0													61.0	59.0	60.0					11																	78412572		1904	4115	6019	SO:0001630	splice_region_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5087+1G>A	11.37:g.78412572C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1696K	ENST00000278550.7	37	c.5086	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175627	0.57692	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90069	-2.61;1.01	5.64	5.64	0.86602	.	0.107105	0.64402	D	0.000007	D	0.89375	0.6697	M	0.82056	2.57	0.58432	D	0.999999	B	0.34015	0.435	B	0.29598	0.104	D	0.87444	0.2397	9	.	.	.	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1696	Q6N022	TEN4_HUMAN	K	1696;160	ENSP00000278550:E1696K;ENSP00000431711:E160K	.	E	-	1	0	ODZ4	78090220	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	5.932000	0.70121	2.937000	0.99478	0.650000	0.86243	GAG	TENM4	-	tigrfam_YD		0.373	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C		Missense_Mutation	78412572	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	T
TESK2	10420	genome.wustl.edu	37	1	45810273	45810273	+	3'UTR	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:45810273G>A	ENST00000372086.3	-	0	2355				TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TESK2_ENST00000538496.1_3'UTR|TESK2_ENST00000341771.6_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTGGGAGGCAGACCTCCTTGC	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.*239C>T	1.37:g.45810273G>A			Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	SNP	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			TESK2	-	-		0.562	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	G	NM_007170		45810273	-1	no_errors	ENST00000486676	ensembl	human	known	70_37	rna	SNP	0.009	A
TET1	80312	genome.wustl.edu	37	10	70404804	70404804	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:70404804C>T	ENST00000373644.4	+	4	2527	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	773					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACAAATGTTTCATTTAAAAAA	0.318																																																	0													35.0	36.0	36.0					10																	70404804		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2318C>T	10.37:g.70404804C>T	ENSP00000362748:p.Ser773Leu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S773L	ENST00000373644.4	37	c.2318	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	8.191	0.796017	0.16327	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.84	4.93	0.64822	.	0.885835	0.09726	N	0.763813	T	0.06826	0.0174	L	0.29908	0.895	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.36962	-0.9726	10	0.22109	T	0.4	.	9.7902	0.40702	0.0:0.7861:0.1409:0.073	.	773	Q8NFU7	TET1_HUMAN	L	773	ENSP00000362748:S773L	ENSP00000362748:S773L	S	+	2	0	TET1	70074810	0.153000	0.22777	0.013000	0.15412	0.401000	0.30781	2.407000	0.44565	1.472000	0.48140	0.650000	0.86243	TCA	TET1	-	NULL		0.318	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70404804	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.047	T
TET1	80312	genome.wustl.edu	37	10	70406339	70406339	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:70406339C>G	ENST00000373644.4	+	4	4062	c.3853C>G	c.(3853-3855)Cag>Gag	p.Q1285E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1285					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTATAATTCTCAGGTACAGTT	0.458																																																	0													99.0	90.0	93.0					10																	70406339		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3853C>G	10.37:g.70406339C>G	ENSP00000362748:p.Gln1285Glu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.Q1285E	ENST00000373644.4	37	c.3853	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199360	0.58126	.	.	ENSG00000138336	ENST00000373644	T	0.10099	2.91	5.25	3.37	0.38596	.	1.277380	0.05588	N	0.574131	T	0.10809	0.0264	L	0.29908	0.895	0.28291	N	0.923545	P	0.48764	0.915	B	0.40940	0.344	T	0.29882	-0.9997	10	0.56958	D	0.05	.	10.2522	0.43375	0.0:0.8431:0.0:0.1569	.	1285	Q8NFU7	TET1_HUMAN	E	1285	ENSP00000362748:Q1285E	ENSP00000362748:Q1285E	Q	+	1	0	TET1	70076345	0.867000	0.29959	1.000000	0.80357	0.893000	0.52053	1.661000	0.37408	1.195000	0.43115	0.563000	0.77884	CAG	TET1	-	NULL		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70406339	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	1.000	G
TEX14	56155	genome.wustl.edu	37	17	56682358	56682358	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56682358G>A	ENST00000240361.8	-	11	1420	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	TEX14_ENST00000389934.3_Silent_p.I439I|TEX14_ENST00000349033.5_Silent_p.I439I			Q8IWB6	TEX14_HUMAN	testis expressed 14	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCTGCATGATCATAGAAA	0.448																																																	0													169.0	151.0	157.0					17																	56682358		2203	4300	6503	SO:0001819	synonymous_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1335C>T	17.37:g.56682358G>A			A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.I445	ENST00000240361.8	37	c.1335	CCDS56042.1	17																																																																																			TEX14	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.448	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	G			56682358	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	silent	SNP	0.965	A
TG	7038	genome.wustl.edu	37	8	133898695	133898695	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:133898695G>A	ENST00000220616.4	+	9	1118	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	TG_ENST00000377869.1_Missense_Mutation_p.E360K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	360					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493																																																	0													84.0	85.0	85.0					8																	133898695		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1078G>A	8.37:g.133898695G>A	ENSP00000220616:p.Glu360Lys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E360K	ENST00000220616.4	37	c.1078	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645693	0.14451	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.64260	-0.09;-0.09	5.28	3.44	0.39384	Thyroglobulin type-1 (2);	2.889650	0.01148	N	0.006354	T	0.58119	0.2100	L	0.42245	1.32	0.22710	N	0.99882	B	0.12630	0.006	B	0.10450	0.005	T	0.38929	-0.9638	10	0.41790	T	0.15	.	8.203	0.31436	0.0797:0.0:0.7655:0.1548	.	360	P01266	THYG_HUMAN	K	360	ENSP00000367100:E360K;ENSP00000220616:E360K	ENSP00000220616:E360K	E	+	1	0	TG	133967877	0.987000	0.35691	0.635000	0.29338	0.083000	0.17756	2.233000	0.43027	0.750000	0.32877	0.655000	0.94253	GAA	TG	-	superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133898695	+1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.929	A
THEMIS2	9473	genome.wustl.edu	37	1	28203154	28203154	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:28203154C>T	ENST00000373921.3	+	2	154	c.150C>T	c.(148-150)atC>atT	p.I50I	THEMIS2_ENST00000373927.3_Silent_p.I50I|THEMIS2_ENST00000328928.7_Silent_p.I50I|THEMIS2_ENST00000373925.1_Silent_p.I50I	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	50	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGACCTGATCAAGGTCACCC	0.592																																																	0													90.0	88.0	89.0					1																	28203154		2203	4300	6503	SO:0001819	synonymous_variant	9473			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.150C>T	1.37:g.28203154C>T			A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	NULL	p.I50	ENST00000373921.3	37	c.150	CCDS41290.1	1																																																																																			THEMIS2	-	NULL		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	C	NM_004848		28203154	+1	no_errors	ENST00000373921	ensembl	human	known	70_37	silent	SNP	0.989	T
TM9SF1	10548	genome.wustl.edu	37	14	24659605	24659605	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:24659605C>G	ENST00000261789.4	-	5	1766	c.1408G>C	c.(1408-1410)Gga>Cga	p.G470R	TM9SF1_ENST00000396854.4_Missense_Mutation_p.G470R|TM9SF1_ENST00000524835.1_Missense_Mutation_p.G383R|TM9SF1_ENST00000530611.1_Missense_Mutation_p.G679R|TM9SF1_ENST00000556387.1_Missense_Mutation_p.G679R|RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.L6F|TM9SF1_ENST00000528669.1_Intron|IPO4_ENST00000354464.6_5'Flank	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	470					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGGAAGCCTCCAACAGTCATG	0.522																																																	0													105.0	90.0	95.0					14																	24659605		2203	4300	6503	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1408G>C	14.37:g.24659605C>G	ENSP00000261789:p.Gly470Arg		D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	pfam_EMP70,pfam_Snf7	p.G679R	ENST00000261789.4	37	c.2035	CCDS9617.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.616552|4.616552	0.87359|0.87359	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.53640|0.54279	0.61;0.61;0.61;0.61;0.61|0.58	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.986|.	D|D	0.88186|0.88186	0.2874|0.2874	10|7	0.87932|0.87932	D|D	0|0	-5.3286|-5.3286	16.095|16.095	0.81114|0.81114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	470;470|.	Q86SZ6;O15321|.	.;TM9S1_HUMAN|.	R|S	470;679;383;470;679|37	ENSP00000261789:G470R;ENSP00000451949:G679R;ENSP00000434387:G383R;ENSP00000380063:G470R;ENSP00000433967:G679R|ENSP00000436486:W37S	ENSP00000433967:G679R|ENSP00000436486:W37S	G|W	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23729445|23729445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.577000|6.577000	0.74027|0.74027	2.377000|2.377000	0.81083|0.81083	0.655000|0.655000	0.94253|0.94253	GGA|TGG	TM9SF1	-	pfam_EMP70		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	C	NM_006405		24659605	-1	no_errors	ENST00000556387	ensembl	human	known	70_37	missense	SNP	1.000	G
TMC4	147798	genome.wustl.edu	37	19	54672241	54672241	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:54672241G>A	ENST00000376591.4	-	4	757	c.626C>T	c.(625-627)tCc>tTc	p.S209F	TMC4_ENST00000301187.4_Missense_Mutation_p.S203F|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	209					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)					GGGGTTATAGGAGCCGCAGGG	0.682											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17.0	15.0	16.0					19																	54672241		2155	4230	6385	SO:0001583	missense	147798			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.626C>T	19.37:g.54672241G>A	ENSP00000365776:p.Ser209Phe	1002	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.S203F	ENST00000376591.4	37	c.608	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	g	0.337	-0.952953	0.02285	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.43294	0.95;0.95;0.95	4.2	-2.05	0.07321	.	2.139460	0.01656	N	0.024857	T	0.30008	0.0751	L	0.35593	1.075	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12837	0.002;0.008	T	0.34054	-0.9844	10	0.09590	T	0.72	-7.3483	7.9009	0.29734	0.4708:0.0:0.5292:0.0	.	209;203	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	F	203;209;113	ENSP00000301187:S203F;ENSP00000365776:S209F;ENSP00000416444:S113F	ENSP00000301187:S203F	S	-	2	0	TMC4	59364053	0.000000	0.05858	0.793000	0.32043	0.185000	0.23345	0.098000	0.15189	-0.465000	0.06953	-1.004000	0.02495	TCC	TMC4	-	NULL		0.682	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54672241	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.984	A
TMED8	283578	genome.wustl.edu	37	14	77818025	77818025	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:77818025G>A	ENST00000216468.7	-	2	243	c.188C>T	c.(187-189)tCa>tTa	p.S63L	RN7SL137P_ENST00000584622.1_RNA	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	63					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCTGTGGGGTGAGGAGCAGGG	0.418																																																	0													131.0	140.0	137.0					14																	77818025		2203	4300	6503	SO:0001583	missense	283578			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.188C>T	14.37:g.77818025G>A	ENSP00000216468:p.Ser63Leu		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	superfamily_GOLD,pfscan_GOLD	p.S63L	ENST00000216468.7	37	c.188	CCDS32125.1	14	.	.	.	.	.	.	.	.	.	.	G	13.16	2.152877	0.38021	.	.	ENSG00000100580	ENST00000216468	T	0.29917	1.55	5.56	4.67	0.58626	.	1.293000	0.05222	N	0.508691	T	0.29256	0.0728	L	0.32530	0.975	0.26341	N	0.977361	B	0.09022	0.002	B	0.08055	0.003	T	0.24657	-1.0154	10	0.72032	D	0.01	-0.0038	10.4996	0.44798	0.0893:0.0:0.9107:0.0	.	63	Q6PL24	TMED8_HUMAN	L	63	ENSP00000216468:S63L	ENSP00000216468:S63L	S	-	2	0	TMED8	76887778	1.000000	0.71417	0.307000	0.25127	0.488000	0.33401	4.239000	0.58694	1.388000	0.46506	-0.155000	0.13514	TCA	TMED8	-	NULL		0.418	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	G	NM_213601		77818025	-1	no_errors	ENST00000216468	ensembl	human	known	70_37	missense	SNP	0.838	A
TNFRSF8	943	genome.wustl.edu	37	1	12164498	12164498	+	Missense_Mutation	SNP	G	G	A	rs139967437		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:12164498G>A	ENST00000263932.2	+	4	553	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	111					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	ATGTCGACCCGGCATGTTCTG	0.577																																																	0								G	SER/GLY	0,4406		0,0,2203	170.0	126.0	141.0		331	4.9	1.0	1	dbSNP_134	141	1,8599		0,1,4299	no	missense	TNFRSF8	NM_001243.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	111/596	12164498	1,13005	2203	4300	6503	SO:0001583	missense	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.331G>A	1.37:g.12164498G>A	ENSP00000263932:p.Gly111Ser		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.G111S	ENST00000263932.2	37	c.331	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	.	18.55	3.648983	0.67358	0.0	1.16E-4	ENSG00000120949	ENST00000263932	T	0.34859	1.34	4.92	4.92	0.64577	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.64402	D	0.000013	T	0.59891	0.2227	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63350	-0.6657	10	0.87932	D	0	-44.5951	14.3555	0.66735	0.0:0.0:1.0:0.0	.	111	P28908	TNR8_HUMAN	S	111	ENSP00000263932:G111S	ENSP00000263932:G111S	G	+	1	0	TNFRSF8	12087085	1.000000	0.71417	0.960000	0.40013	0.126000	0.20510	4.870000	0.63035	2.665000	0.90641	0.650000	0.86243	GGC	TNFRSF8	-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12164498	+1	no_errors	ENST00000263932	ensembl	human	known	70_37	missense	SNP	0.978	A
TNFSF13B	10673	genome.wustl.edu	37	13	108959350	108959350	+	3'UTR	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:108959350C>G	ENST00000375887.4	+	0	1100				TNFSF13B_ENST00000430559.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b						B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AAGAAAGAATCTAACTGAAAA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.*64C>G	13.37:g.108959350C>G			E0ADT7|Q6FHD6|Q7Z5J2	RNA	SNP	-	NULL	ENST00000375887.4	37	NULL	CCDS9509.1	13																																																																																			TNFSF13B	-	-		0.323	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	C			108959350	+1	no_errors	ENST00000493765	ensembl	human	known	70_37	rna	SNP	0.000	G
TNS4	84951	genome.wustl.edu	37	17	38638451	38638451	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:38638451G>C	ENST00000254051.6	-	8	1760	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	534	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGAAGGCAGAGAGGCTCCCTG	0.627																																																	0													57.0	53.0	54.0					17																	38638451		2203	4300	6503	SO:0001819	synonymous_variant	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1602C>G	17.37:g.38638451G>C			A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.L534	ENST00000254051.6	37	c.1602	CCDS11368.1	17																																																																																			TNS4	-	pfam_SH2,smart_SH2,pfscan_SH2		0.627	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	G	NM_032865		38638451	-1	no_errors	ENST00000254051	ensembl	human	known	70_37	silent	SNP	0.981	C
TP73	7161	genome.wustl.edu	37	1	3638722	3638724	+	In_Frame_Del	DEL	CGT	CGT	-	rs142165895	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	CGT	CGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:3638722_3638724delCGT	ENST00000378295.4	+	5	722_724	c.567_569delCGT	c.(565-570)gacgtc>gac	p.V191del	TP73_ENST00000346387.4_In_Frame_Del_p.V191del|TP73_ENST00000378288.4_In_Frame_Del_p.V142del|TP73_ENST00000604074.1_In_Frame_Del_p.V191del|TP73_ENST00000357733.3_In_Frame_Del_p.V191del|TP73_ENST00000378285.1_In_Frame_Del_p.V142del|TP73_ENST00000604479.1_In_Frame_Del_p.V191del|TP73_ENST00000603362.1_In_Frame_Del_p.V191del|TP73_ENST00000378280.1_In_Frame_Del_p.V142del|TP73_ENST00000378290.4_In_Frame_Del_p.V120del|TP73_ENST00000354437.4_In_Frame_Del_p.V191del	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	191	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACGTGACCGACGTCGTGAAACGC	0.645																																																	0																																										SO:0001651	inframe_deletion	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.567_569delCGT	1.37:g.3638725_3638727delCGT	ENSP00000367545:p.Val191del		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.V191in_frame_del	ENST00000378295.4	37	c.567_569	CCDS49.1	1																																																																																			TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.645	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	CGT	NM_005427		3638724	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	in_frame_del	DEL	0.994:0.999:0.999	-
TPO	7173	genome.wustl.edu	37	2	1544402	1544402	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:1544402G>A	ENST00000345913.4	+	16	2746	c.2655G>A	c.(2653-2655)tcG>tcA	p.S885S	TPO_ENST00000329066.4_Silent_p.S885S|TPO_ENST00000382201.3_Silent_p.S828S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.S712S|TPO_ENST00000337415.3_Intron|TPO_ENST00000349624.3_Silent_p.S712S|TPO_ENST00000346956.3_Silent_p.S841S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	885					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCCATCTCGGAGACAGGCG	0.642																																																	0													93.0	80.0	84.0					2																	1544402		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2655G>A	2.37:g.1544402G>A			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S885	ENST00000345913.4	37	c.2655	CCDS1643.1	2																																																																																			TPO	-	NULL		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1544402	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	silent	SNP	0.001	A
TRIM38	10475	genome.wustl.edu	37	6	25972171	25972171	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:25972171G>A	ENST00000357085.3	+	5	1058	c.582G>A	c.(580-582)gaG>gaA	p.E194E	TRIM38_ENST00000349458.3_Silent_p.E194E	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	194					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ATGAGGAAGAGAAGTCTTATC	0.443																																																	0													70.0	71.0	70.0					6																	25972171		2203	4300	6503	SO:0001819	synonymous_variant	10475			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.582G>A	6.37:g.25972171G>A			B2R862	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,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.E194	ENST00000357085.3	37	c.582	CCDS4568.1	6																																																																																			TRIM38	-	NULL		0.443	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2	G			25972171	+1	no_errors	ENST00000349458	ensembl	human	known	70_37	silent	SNP	0.977	A
TRIML2	205860	genome.wustl.edu	37	4	189022246	189022246	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:189022246G>A	ENST00000512729.1	-	3	668	c.294C>T	c.(292-294)gcC>gcT	p.A98A	TRIML2_ENST00000536972.1_Silent_p.A148A|TRIML2_ENST00000326754.3_Silent_p.A98A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	98					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTAGCTCGGTGGCAAGCTTGA	0.413																																																	0													125.0	118.0	120.0					4																	189022246		2203	4300	6503	SO:0001819	synonymous_variant	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.294C>T	4.37:g.189022246G>A			B7Z6J6	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.A98	ENST00000512729.1	37	c.294	CCDS3850.1	4																																																																																			TRIML2	-	NULL		0.413	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	G	NM_173553		189022246	-1	no_errors	ENST00000512729	ensembl	human	known	70_37	silent	SNP	0.000	A
TRIML2	205860	genome.wustl.edu	37	4	189022289	189022289	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:189022289A>G	ENST00000512729.1	-	3	625	c.251T>C	c.(250-252)tTg>tCg	p.L84S	TRIML2_ENST00000536972.1_Missense_Mutation_p.L134S|TRIML2_ENST00000326754.3_Missense_Mutation_p.L84S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	84					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCTCAGGTTCAAGTCAGATAT	0.423																																																	0													151.0	141.0	144.0					4																	189022289		2203	4300	6503	SO:0001583	missense	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.251T>C	4.37:g.189022289A>G	ENSP00000422581:p.Leu84Ser		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.L84S	ENST00000512729.1	37	c.251	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906734	0.52333	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.60424	3.58;0.19;3.51	5.23	-7.92	0.01160	.	1.216040	0.06458	N	0.728986	T	0.39572	0.1083	L	0.46157	1.445	0.09310	N	1	B;B;B	0.29909	0.121;0.261;0.261	B;B;B	0.24155	0.035;0.051;0.051	T	0.41413	-0.9510	10	0.87932	D	0	.	2.6516	0.05001	0.2048:0.1256:0.4234:0.2462	.	134;84;84	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	S	84;84;134	ENSP00000422581:L84S;ENSP00000317498:L84S;ENSP00000441236:L134S	ENSP00000317498:L84S	L	-	2	0	TRIML2	189259283	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.603000	0.05674	-1.074000	0.03132	0.533000	0.62120	TTG	TRIML2	-	NULL		0.423	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	A	NM_173553		189022289	-1	no_errors	ENST00000512729	ensembl	human	known	70_37	missense	SNP	0.000	G
TRPC4	7223	genome.wustl.edu	37	13	38266214	38266214	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:38266214G>T	ENST00000379705.3	-	4	2013	c.1156C>A	c.(1156-1158)Cac>Aac	p.H386N	TRPC4_ENST00000379681.3_Missense_Mutation_p.H386N|TRPC4_ENST00000355779.2_Missense_Mutation_p.H386N|TRPC4_ENST00000338947.5_Missense_Mutation_p.H213N|TRPC4_ENST00000379673.2_Missense_Mutation_p.H386N|TRPC4_ENST00000358477.2_Missense_Mutation_p.H386N|TRPC4_ENST00000447043.1_Missense_Mutation_p.H386N|TRPC4_ENST00000379679.1_Missense_Mutation_p.H213N|TRPC4_ENST00000426868.2_Missense_Mutation_p.H386N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	386					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGTCGATGTGCTGAGAGGCA	0.468																																																	0													118.0	108.0	111.0					13																	38266214		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1156C>A	13.37:g.38266214G>T	ENSP00000369027:p.His386Asn		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.H386N	ENST00000379705.3	37	c.1156	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609607	0.46527	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.75	5.75	0.90469	.	0.042279	0.85682	D	0.000000	T	0.75889	0.3911	L	0.28504	0.86	0.49389	D	0.999785	B;B;B;B;B;B	0.23990	0.003;0.007;0.002;0.095;0.002;0.002	B;B;B;B;B;B	0.30855	0.012;0.011;0.004;0.121;0.017;0.008	T	0.69621	-0.5096	10	0.21014	T	0.42	-23.639	14.7455	0.69488	0.0:0.0:0.8554:0.1446	.	386;386;386;213;386;386	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	N	386;386;213;213;386;386;386;386;386	ENSP00000369027:H386N;ENSP00000369003:H386N;ENSP00000342580:H213N;ENSP00000369001:H213N;ENSP00000410133:H386N;ENSP00000348025:H386N;ENSP00000351264:H386N;ENSP00000368995:H386N;ENSP00000414316:H386N	ENSP00000342580:H213N	H	-	1	0	TRPC4	37164214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.867000	0.87062	2.700000	0.92200	0.563000	0.77884	CAC	TRPC4	-	tigrfam_TRP_channel		0.468	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	G	NM_003306		38266214	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	missense	SNP	1.000	T
TRUB2	26995	genome.wustl.edu	37	9	131079472	131079472	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:131079472C>T	ENST00000372890.4	-	3	608	c.275G>A	c.(274-276)gGc>gAc	p.G92D	RP11-339B21.13_ENST00000609315.1_RNA|TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Missense_Mutation_p.G36D	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	92					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ATGTCCCACGCCAACCTTGAG	0.507																																																	0													65.0	54.0	58.0					9																	131079472		2203	4300	6503	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.275G>A	9.37:g.131079472C>T	ENSP00000361982:p.Gly92Asp		B7Z7G5	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.G92D	ENST00000372890.4	37	c.275	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962171	0.53400	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.77098	-1.07;-1.07	5.5	4.6	0.57074	Pseudouridine synthase, catalytic domain (1);	0.050955	0.85682	D	0.000000	D	0.90249	0.6951	M	0.93150	3.385	0.58432	D	0.999998	D	0.67145	0.996	D	0.66351	0.943	D	0.92794	0.6251	10	0.87932	D	0	-11.9975	15.2253	0.73345	0.0:0.8583:0.1417:0.0	.	92	O95900	TRUB2_HUMAN	D	92;36	ENSP00000361982:G92D;ENSP00000438084:G36D	ENSP00000361982:G92D	G	-	2	0	TRUB2	130119293	1.000000	0.71417	0.893000	0.35052	0.157000	0.22087	5.784000	0.68990	1.304000	0.44892	-0.414000	0.06135	GGC	TRUB2	-	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom		0.507	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	C	NM_015679		131079472	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	missense	SNP	0.995	T
TSACC	128229	genome.wustl.edu	37	1	156309577	156309577	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:156309577G>A	ENST00000368255.3	+	2	389	c.29G>A	c.(28-30)aGa>aAa	p.R10K	CCT3_ENST00000472765.2_5'Flank|TSACC_ENST00000368254.1_Missense_Mutation_p.R10K|TSACC_ENST00000466306.1_Missense_Mutation_p.R10K|TSACC_ENST00000368251.1_Missense_Mutation_p.R10K|TSACC_ENST00000470342.1_Missense_Mutation_p.R10K|CCT3_ENST00000295688.3_5'Flank|CCT3_ENST00000368261.3_5'Flank|TSACC_ENST00000368252.1_Missense_Mutation_p.R10K|TSACC_ENST00000368253.2_Missense_Mutation_p.R10K|CCT3_ENST00000368259.2_5'Flank|CCT3_ENST00000368256.3_5'Flank|TSACC_ENST00000481479.1_Missense_Mutation_p.R10K	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	10						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CATCCTAACAGAAAAGGTGTG	0.473																																																	0													143.0	123.0	130.0					1																	156309577		2203	4300	6503	SO:0001583	missense	128229			AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.29G>A	1.37:g.156309577G>A	ENSP00000357238:p.Arg10Lys		D3DVB9	Missense_Mutation	SNP	NULL	p.R10K	ENST00000368255.3	37	c.29	CCDS1141.1	1	.	.	.	.	.	.	.	.	.	.	G	4.924	0.171779	0.09391	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	3.34	0.374	0.16183	.	1.405150	0.04807	N	0.434648	T	0.03915	0.0110	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24476	-1.0159	10	0.02654	T	1	-0.0012	5.2153	0.15338	0.418:0.0:0.582:0.0	.	10	Q96A04	CA182_HUMAN	K	10	ENSP00000357238:R10K;ENSP00000357237:R10K;ENSP00000357236:R10K;ENSP00000357235:R10K;ENSP00000357234:R10K	ENSP00000357234:R10K	R	+	2	0	C1orf182	154576201	0.001000	0.12720	0.078000	0.20375	0.982000	0.71751	-0.353000	0.07691	0.092000	0.17331	0.467000	0.42956	AGA	TSACC	-	NULL		0.473	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSACC	HGNC	protein_coding	OTTHUMT00000060594.1	G	NM_144627		156309577	+1	no_errors	ENST00000368251	ensembl	human	known	70_37	missense	SNP	0.103	A
TSNAX	7257	genome.wustl.edu	37	1	231699372	231699372	+	Intron	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:231699372G>C	ENST00000366639.4	+	6	653				TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				ctggaggatagaaggtaaaga	0.418																																																	0																																										SO:0001627	intron_variant	7257			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.496-902G>C	1.37:g.231699372G>C			B1APC6	RNA	SNP	-	NULL	ENST00000366639.4	37	NULL	CCDS1596.1	1																																																																																			TSNAX	-	-		0.418	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2	G	NM_005999		231699372	+1	no_errors	ENST00000475168	ensembl	human	known	70_37	rna	SNP	1.000	C
CNP	1267	genome.wustl.edu	37	17	40117340	40117340	+	5'Flank	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:40117340G>C	ENST00000393892.3	+	0	0				CNP_ENST00000472031.1_5'Flank|TTC25_ENST00000591658.1_RNA|CNP_ENST00000591072.1_5'Flank|CNP_ENST00000393888.1_5'Flank	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGAGAATTAGAGCAAAGACT	0.448																																																	0													51.0	49.0	49.0					17																	40117340		1837	4084	5921	SO:0001631	upstream_gene_variant	83538				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117340G>C	Exception_encountered			RNA	SNP	-	NULL	ENST00000393892.3	37	NULL	CCDS11414.2	17																																																																																			TTC25	-	-		0.448	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC25	HGNC	protein_coding	OTTHUMT00000257443.2	G			40117340	+1	no_errors	ENST00000377540	ensembl	human	known	70_37	rna	SNP	0.000	C
TTC3	7267	genome.wustl.edu	37	21	38460535	38460535	+	Missense_Mutation	SNP	C	C	T	rs556511744		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr21:38460535C>T	ENST00000399017.2	+	4	2974	c.227C>T	c.(226-228)tCt>tTt	p.S76F	TTC3_ENST00000399010.1_Missense_Mutation_p.S76F|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.S76F|TTC3_ENST00000354749.2_Missense_Mutation_p.S76F|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	76					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAACCAATTTCTGTCCTGCAA	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18752	0.0		0.0	False		,,,				2504	0.0				Ovarian(38;194 1649 35661)												0													73.0	64.0	67.0					21																	38460535		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.227C>T	21.37:g.38460535C>T	ENSP00000381981:p.Ser76Phe		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S76F	ENST00000399017.2	37	c.227	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401171	0.42613	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.48836	2.62;0.8;2.62;2.96;2.96;2.96	4.82	3.79	0.43588	.	0.756765	0.11678	N	0.540113	T	0.45875	0.1364	L	0.51422	1.61	0.80722	D	1	P	0.35033	0.481	B	0.39617	0.305	T	0.50608	-0.8808	10	0.72032	D	0.01	-13.4679	9.3947	0.38394	0.3181:0.6819:0.0:0.0	.	76	P53804	TTC3_HUMAN	F	76	ENSP00000403943:S76F;ENSP00000408456:S76F;ENSP00000391891:S76F;ENSP00000347889:S76F;ENSP00000381981:S76F;ENSP00000346791:S76F	ENSP00000346791:S76F	S	+	2	0	TTC3	37382405	1.000000	0.71417	0.975000	0.42487	0.826000	0.46750	2.882000	0.48546	2.359000	0.80004	0.557000	0.71058	TCT	TTC3	-	NULL		0.318	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38460535	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	0.995	T
TTN	7273	genome.wustl.edu	37	2	179427879	179427879	+	Silent	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:179427879T>C	ENST00000591111.1	-	276	78281	c.78057A>G	c.(78055-78057)ctA>ctG	p.L26019L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.L18787L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L25092L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L18720L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.L27660L|TTN_ENST00000460472.2_Silent_p.L18595L|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26019	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGCCAGGTAGAGTTGCAG	0.453																																																	0													182.0	179.0	180.0					2																	179427879		1964	4163	6127	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78057A>G	2.37:g.179427879T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L25092	ENST00000591111.1	37	c.75276		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179427879	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.867	C
TTN	7273	genome.wustl.edu	37	2	179486421	179486421	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:179486421C>T	ENST00000591111.1	-	195	40431	c.40207G>A	c.(40207-40209)Gaa>Aaa	p.E13403K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6171K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12476K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6104K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15044K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5979K			Q8WZ42	TITIN_HUMAN	titin	13403	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCTGTTTCACTAACTTCA	0.363																																																	0													81.0	76.0	78.0					2																	179486421		1837	4086	5923	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40207G>A	2.37:g.179486421C>T	ENSP00000465570:p.Glu13403Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12476K	ENST00000591111.1	37	c.37426		2	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557388	0.65425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83552	0.5279	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.84146	0.0420	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	5979;6104;6171;13403	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12476;5979;6171;6104;5979	ENSP00000343764:E12476K;ENSP00000434586:E5979K;ENSP00000340554:E6171K;ENSP00000352154:E6104K	ENSP00000340554:E6171K	E	-	1	0	TTN	179194666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486421	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBB2A	7280	genome.wustl.edu	37	6	3154874	3154874	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:3154874G>A	ENST00000333628.3	-	4	623	c.561C>T	c.(559-561)ctC>ctT	p.L187L	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	187					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GGTGGACAGAGAGGGTGGCGT	0.562																																																	0													181.0	94.0	123.0					6																	3154874		2203	4299	6502	SO:0001819	synonymous_variant	7280			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.561C>T	6.37:g.3154874G>A			Q6FGZ8|Q8IWR2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.L187	ENST00000333628.3	37	c.561	CCDS4484.1	6																																																																																			TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin		0.562	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	G	NM_001069		3154874	-1	no_errors	ENST00000333628	ensembl	human	known	70_37	silent	SNP	0.065	A
TXNRD1	7296	genome.wustl.edu	37	12	104719207	104719207	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:104719207G>A	ENST00000529546.1	+	8	969	c.744G>A	c.(742-744)acG>acA	p.T248T	TXNRD1_ENST00000526691.1_Splice_Site_p.T338T|TXNRD1_ENST00000397736.2_Splice_Site_p.T330T|TXNRD1_ENST00000526390.1_Splice_Site_p.T330T|TXNRD1_ENST00000525566.1_Splice_Site_p.T436T|TXNRD1_ENST00000526950.1_Splice_Site_p.T355T|TXNRD1_ENST00000427956.1_Splice_Site_p.T401T|TXNRD1_ENST00000354940.6_Splice_Site_p.T286T|TXNRD1_ENST00000524698.1_Splice_Site_p.T286T|TXNRD1_ENST00000378070.4_Splice_Site_p.T385T|TXNRD1_ENST00000388854.3_Splice_Site_p.T338T|TXNRD1_ENST00000542918.1_Splice_Site_p.T336T|TXNRD1_ENST00000540716.1_Splice_Site_p.T248T|TXNRD1_ENST00000503506.2_Splice_Site_p.T286T|TXNRD1_ENST00000429002.2_Splice_Site_p.T436T			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	436					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	AATATAATACGGTAAGGAATG	0.393																																					Ovarian(139;555 1836 9186 9946 10884)												0													61.0	57.0	59.0					12																	104719207		1866	4112	5978	SO:0001630	splice_region_variant	7296				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.744+1G>A	12.37:g.104719207G>A			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.T436	ENST00000529546.1	37	c.1308	CCDS58274.1	12																																																																																			TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase		0.393	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	G	NM_003330	Silent	104719207	+1	no_errors	ENST00000429002	ensembl	human	known	70_37	silent	SNP	0.998	A
UBE2R2	54926	genome.wustl.edu	37	9	33922521	33922521	+	IGR	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:33922521G>A	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379239.4_Missense_Mutation_p.S847F|UBAP2_ENST00000449054.1_Missense_Mutation_p.S1114F|UBAP2_ENST00000379238.1_Missense_Mutation_p.S1114F|UBAP2_ENST00000360802.1_Missense_Mutation_p.S1114F|UBAP2_ENST00000379235.1_Missense_Mutation_p.S353F|UBAP2_ENST00000539807.1_Missense_Mutation_p.S869F	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CCAGTATGGAGAGTTGCCGTA	0.597											OREG0019144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49.0	45.0	46.0					9																	33922521		2203	4300	6503	SO:0001628	intergenic_variant	55833			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922521G>A		843	D3DRL5|Q9NX64	Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.S1114F	ENST00000263228.3	37	c.3341	CCDS6546.1	9	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495859	0.64186	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807	T;T;T;T;T;T	0.55052	2.22;2.22;2.22;0.54;1.97;2.02	5.58	5.58	0.84498	.	0.096959	0.64402	D	0.000001	T	0.70360	0.3215	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.57257	0.979;0.979;0.979;0.964	P;P;P;P	0.58454	0.839;0.839;0.839;0.694	T	0.72740	-0.4202	10	0.87932	D	0	-11.1272	18.7458	0.91792	0.0:0.0:1.0:0.0	.	869;847;1023;1114	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	F	1114;1114;1114;1023;353;847;869	ENSP00000368540:S1114F;ENSP00000416932:S1114F;ENSP00000354039:S1114F;ENSP00000368537:S353F;ENSP00000368541:S847F;ENSP00000439329:S869F	ENSP00000354039:S1114F	S	-	2	0	UBAP2	33912521	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.067000	0.64357	2.906000	0.99361	0.655000	0.94253	TCT	UBAP2	-	NULL		0.597	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000052118.1	G	NM_017811		33922521	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	missense	SNP	1.000	A
UBC	7316	genome.wustl.edu	37	12	125396263	125396263	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:125396263G>C	ENST00000538617.1	-	4	1231	c.915C>G	c.(913-915)gtC>gtG	p.V305V	UBC_ENST00000339647.5_Silent_p.V685V|UBC_ENST00000546120.1_Silent_p.V609V|UBC_ENST00000536769.1_Silent_p.V685V|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	685	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGGAAACTTAGACACCCCCCC	0.413																																																	0													64.0	66.0	65.0					12																	125396263		2203	4300	6503	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.915C>G	12.37:g.125396263G>C			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.V685	ENST00000538617.1	37	c.2055		12																																																																																			UBC	-	NULL		0.413	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	G	NM_021009		125396263	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	silent	SNP	0.104	C
UBXN6	80700	genome.wustl.edu	37	19	4457626	4457626	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:4457626G>C	ENST00000301281.6	-	1	193	c.69C>G	c.(67-69)ctC>ctG	p.L23L	CTB-50L17.16_ENST00000591414.1_lincRNA|CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'Flank	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGGACTCTTTGAGCTTCTGAC	0.677																																																	0													35.0	31.0	32.0					19																	4457626		2200	4298	6498	SO:0001819	synonymous_variant	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.69C>G	19.37:g.4457626G>C			D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.L23	ENST00000301281.6	37	c.69	CCDS12129.1	19																																																																																			UBXN6	-	NULL		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3	G	NM_025241		4457626	-1	no_errors	ENST00000301281	ensembl	human	known	70_37	silent	SNP	0.999	C
UHRF1	29128	genome.wustl.edu	37	19	4950940	4950940	+	RNA	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:4950940G>A	ENST00000592666.1	+	0	2326							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GCGGAGGGACGATGATGAGCC	0.607																																																	0													78.0	85.0	83.0					19																	4950940		2081	4195	6276			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950940G>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693417	0.68386	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.92	4.92	0.64577	SRA-YDG (3);	0.048089	0.85682	D	0.000000	D	0.85566	0.5726	M	0.91663	3.23	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89111	0.3496	8	0.72032	D	0.01	-3.2768	17.094	0.86630	0.0:0.0:1.0:0.0	.	597;584	Q2HIX7;Q96T88	.;UHRF1_HUMAN	N	584;199;584;584;597	.	ENSP00000262952:D584N	D	+	1	0	UHRF1	4901940	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	9.766000	0.98957	2.281000	0.76405	0.555000	0.69702	GAT	UHRF1	-	-		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	G	NM_001048201		4950940	+1	no_errors	ENST00000262952	ensembl	human	known	70_37	rna	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216420458	216420458	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:216420458T>C	ENST00000307340.3	-	13	2664	c.2278A>G	c.(2278-2280)Aat>Gat	p.N760D	USH2A_ENST00000366942.3_Missense_Mutation_p.N760D|USH2A_ENST00000366943.2_Missense_Mutation_p.N760D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	760	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTGAGGATTGCAGAATTTG	0.418										HNSCC(13;0.011)																																							0													113.0	115.0	114.0					1																	216420458		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2278A>G	1.37:g.216420458T>C	ENSP00000305941:p.Asn760Asp		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N760D	ENST00000307340.3	37	c.2278	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257402	0.22965	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.50813	0.73;0.73;0.73	5.79	-0.938	0.10412	EGF-like, laminin (3);	0.279989	0.24703	N	0.036297	T	0.19604	0.0471	N	0.11131	0.1	0.29817	N	0.831196	B;B	0.10296	0.001;0.003	B;B	0.12156	0.004;0.007	T	0.27365	-1.0076	10	0.08381	T	0.77	.	5.9676	0.19334	0.0:0.1969:0.2525:0.5506	.	760;760	O75445-2;O75445	.;USH2A_HUMAN	D	760	ENSP00000305941:N760D;ENSP00000355910:N760D;ENSP00000355909:N760D	ENSP00000305941:N760D	N	-	1	0	USH2A	214487081	0.996000	0.38824	0.576000	0.28549	0.940000	0.58332	0.319000	0.19522	-0.418000	0.07450	0.533000	0.62120	AAT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216420458	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.996	C
USP26	83844	genome.wustl.edu	37	X	132159590	132159590	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:132159590C>T	ENST00000511190.1	-	6	3128	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	USP26_ENST00000370832.1_Missense_Mutation_p.E887K|USP26_ENST00000406273.1_Missense_Mutation_p.E887K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	887					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E887K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCAAAGATCTCATTATGCATG	0.463																																					NSCLC(104;342 1621 36940 47097 52632)												1	Substitution - Missense(1)	urinary_tract(1)											139.0	111.0	121.0					X																	132159590		2203	4300	6503	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2659G>A	X.37:g.132159590C>T	ENSP00000423390:p.Glu887Lys		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E887K	ENST00000511190.1	37	c.2659	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336165	0.41398	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55760	0.5;0.5;0.5	3.68	1.9	0.25705	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.426572	0.17341	N	0.177756	T	0.39384	0.1076	L	0.47190	1.495	0.22468	N	0.999074	P	0.36660	0.564	B	0.33690	0.168	T	0.30851	-0.9964	10	0.62326	D	0.03	-6.4553	5.0243	0.14376	0.0:0.716:0.0:0.284	.	887	Q9BXU7	UBP26_HUMAN	K	887	ENSP00000359869:E887K;ENSP00000423390:E887K;ENSP00000384360:E887K	ENSP00000359869:E887K	E	-	1	0	USP26	131987256	0.738000	0.28186	0.720000	0.30636	0.959000	0.62525	0.092000	0.15066	0.369000	0.24510	0.509000	0.49947	GAG	USP26	-	pfscan_Peptidase_C19		0.463	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	C	NM_031907		132159590	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.975	T
USP35	57558	genome.wustl.edu	37	11	77921400	77921400	+	Silent	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:77921400C>A	ENST00000529308.1	+	10	2760	c.2499C>A	c.(2497-2499)ctC>ctA	p.L833L	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.L564L|USP35_ENST00000441408.2_Silent_p.L419L|USP35_ENST00000530267.1_Silent_p.L401L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	833	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCCTGCTGCTCCGCCTGCCAC	0.622																																																	0													70.0	79.0	76.0					11																	77921400		2084	4183	6267	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2499C>A	11.37:g.77921400C>A				Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L833	ENST00000529308.1	37	c.2499	CCDS41693.1	11																																																																																			USP35	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	C	XM_290527		77921400	+1	no_errors	ENST00000529308	ensembl	human	known	70_37	silent	SNP	0.679	A
USP36	57602	genome.wustl.edu	37	17	76799495	76799495	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:76799495C>T	ENST00000542802.3	-	16	3225	c.2782G>A	c.(2782-2784)Ggc>Agc	p.G928S	USP36_ENST00000312010.6_Missense_Mutation_p.G928S|USP36_ENST00000449938.2_Missense_Mutation_p.G533S			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	928					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.G928S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGTGCAGGCCGCCTTCTTCA	0.577																																																	2	Substitution - Missense(2)	lung(2)											74.0	66.0	69.0					17																	76799495		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2782G>A	17.37:g.76799495C>T	ENSP00000441214:p.Gly928Ser		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.G928S	ENST00000542802.3	37	c.2782	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028068	0.35797	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.16457	3.42;2.34;3.42	5.03	-10.1	0.00402	.	1.647360	0.02940	N	0.140364	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	B;B	0.19935	0.015;0.04	B;B	0.10450	0.002;0.005	T	0.17868	-1.0355	10	0.08837	T	0.75	-0.0378	6.2786	0.20995	0.1233:0.6546:0.0933:0.1288	.	928;928	Q9P275;Q9P275-2	UBP36_HUMAN;.	S	928;533;928	ENSP00000310590:G928S;ENSP00000401119:G533S;ENSP00000441214:G928S	ENSP00000310590:G928S	G	-	1	0	USP36	74311090	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.710000	0.00387	-2.535000	0.00489	0.655000	0.94253	GGC	USP36	-	NULL		0.577	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	C	NM_025090		76799495	-1	no_errors	ENST00000312010	ensembl	human	known	70_37	missense	SNP	0.000	T
VAX2	25806	genome.wustl.edu	37	2	71160168	71160168	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:71160168C>T	ENST00000234392.2	+	3	739	c.707C>T	c.(706-708)tCa>tTa	p.S236L	snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000412314.1_5'Flank|ATP6V1B1_ENST00000234396.4_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	236					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						TCCTCGGCCTCAGCGTCCCCC	0.687																																																	0													25.0	28.0	27.0					2																	71160168		2203	4299	6502	SO:0001583	missense	25806			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.707C>T	2.37:g.71160168C>T	ENSP00000234392:p.Ser236Leu		Q53Y33	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S236L	ENST00000234392.2	37	c.707	CCDS1911.1	2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643569	0.29246	.	.	ENSG00000116035	ENST00000234392	D	0.90504	-2.68	4.96	4.96	0.65561	.	0.357657	0.29876	N	0.010961	D	0.83575	0.5284	L	0.27053	0.805	0.33771	D	0.6231	B	0.30482	0.281	B	0.25405	0.06	D	0.84567	0.0653	10	0.21540	T	0.41	-2.0315	15.6925	0.77466	0.0:1.0:0.0:0.0	.	236	Q9UIW0	VAX2_HUMAN	L	236	ENSP00000234392:S236L	ENSP00000234392:S236L	S	+	2	0	VAX2	71013676	0.003000	0.15002	0.005000	0.12908	0.087000	0.18053	1.979000	0.40608	2.293000	0.77203	0.313000	0.20887	TCA	VAX2	-	NULL		0.687	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAX2	HGNC	protein_coding	OTTHUMT00000251923.1	C			71160168	+1	no_errors	ENST00000234392	ensembl	human	known	70_37	missense	SNP	0.824	T
VGLL1	51442	genome.wustl.edu	37	X	135631026	135631026	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:135631026C>T	ENST00000370634.3	+	3	663	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TGATGGGAAACGTGAGCCTCT	0.612																																																	0													95.0	89.0	91.0					X																	135631026		2203	4300	6503	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.493C>T	X.37:g.135631026C>T	ENSP00000359668:p.Arg165Cys		Q5H915	Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.R165C	ENST00000370634.3	37	c.493	CCDS14658.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.728243|-1.728243	0.00694|0.00694	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634|ENST00000440515	T|.	0.46451|.	0.87|.	5.81|5.81	0.378|0.378	0.16204|0.16204	.|.	0.641717|.	0.18228|.	N|.	0.147679|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26849|0.26849	-1.0091|-1.0091	10|5	0.37606|.	T|.	0.19|.	2.3975|2.3975	0.9708|0.9708	0.01415|0.01415	0.1547:0.1805:0.1571:0.5077|0.1547:0.1805:0.1571:0.5077	.|.	165|.	Q99990|.	VGLL1_HUMAN|.	C|I	165|129	ENSP00000359668:R165C|.	ENSP00000359668:R165C|.	R|T	+|+	1|2	0|0	VGLL1|VGLL1	135458692|135458692	0.610000|0.610000	0.26983|0.26983	0.000000|0.000000	0.03702|0.03702	0.556000|0.556000	0.35491|0.35491	0.407000|0.407000	0.21049|0.21049	-0.289000|-0.289000	0.09038|0.09038	-0.340000|-0.340000	0.08031|0.08031	CGT|ACA	VGLL1	-	NULL		0.612	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL1	HGNC	protein_coding	OTTHUMT00000058493.1	C	NM_016267		135631026	+1	no_errors	ENST00000370634	ensembl	human	known	70_37	missense	SNP	0.001	T
VWA3B	200403	genome.wustl.edu	37	2	98928686	98928686	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:98928686G>A	ENST00000477737.1	+	28	3963	c.3759G>A	c.(3757-3759)gcG>gcA	p.A1253A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1253										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTTCCCCGCGGCCGGGCGTC	0.597																																																	0													44.0	52.0	49.0					2																	98928686		2041	4197	6238	SO:0001819	synonymous_variant	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3759G>A	2.37:g.98928686G>A			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A1253	ENST00000477737.1	37	c.3759	CCDS42718.1	2																																																																																			VWA3B	-	NULL		0.597	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	G	NM_144992		98928686	+1	no_errors	ENST00000477737	ensembl	human	known	70_37	silent	SNP	0.000	A
VWA5B2	90113	genome.wustl.edu	37	3	183951051	183951051	+	Silent	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:183951051G>C	ENST00000426955.2	+	3	496	c.396G>C	c.(394-396)gtG>gtC	p.V132V	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_5'Flank	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	132	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						CCATGACGGTGACCCTGCACA	0.682																																																	0													15.0	19.0	18.0					3																	183951051		692	1591	2283	SO:0001819	synonymous_variant	90113				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.396G>C	3.37:g.183951051G>C			B9EGN7	Silent	SNP	NULL	p.V132	ENST00000426955.2	37	c.396	CCDS54686.1	3																																																																																			VWA5B2	-	NULL		0.682	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	G	XM_291077		183951051	+1	no_errors	ENST00000426955	ensembl	human	known	70_37	silent	SNP	1.000	C
VWA5B2	90113	genome.wustl.edu	37	3	183956545	183956545	+	Missense_Mutation	SNP	G	G	A	rs573085436		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:183956545G>A	ENST00000426955.2	+	13	2186	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	EIF2B5_ENST00000444495.1_Intron|MIR1224_ENST00000408193.1_RNA|VWA5B2_ENST00000273794.5_Missense_Mutation_p.E478K	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	707										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						TGGCTCCCCCGAAGGTAGTGC	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16230	0.0		0.0	False		,,,				2504	0.0																0													24.0	24.0	24.0					3																	183956545		692	1591	2283	SO:0001583	missense	90113				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.2086G>A	3.37:g.183956545G>A	ENSP00000398688:p.Glu696Lys		B9EGN7	Missense_Mutation	SNP	NULL	p.E696K	ENST00000426955.2	37	c.2086	CCDS54686.1	3	.	.	.	.	.	.	.	.	.	.	G	6.063	0.379874	0.11466	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.17854	2.93;2.25	4.65	2.83	0.33086	.	0.716405	0.12375	N	0.474414	T	0.09291	0.0229	L	0.44542	1.39	0.09310	N	1	B;B;P	0.44006	0.102;0.382;0.824	B;B;B	0.28139	0.019;0.064;0.086	T	0.17992	-1.0351	10	0.11485	T	0.65	.	6.3115	0.21166	0.0996:0.1872:0.7132:0.0	.	478;696;707	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	K	696;478	ENSP00000398688:E696K;ENSP00000273794:E478K	ENSP00000273794:E478K	E	+	1	0	VWA5B2	185439239	0.858000	0.29795	0.003000	0.11579	0.980000	0.70556	2.378000	0.44309	0.678000	0.31325	0.563000	0.77884	GAA	VWA5B2	-	NULL		0.692	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	G	XM_291077		183956545	+1	no_errors	ENST00000426955	ensembl	human	known	70_37	missense	SNP	0.009	A
VWA8	23078	genome.wustl.edu	37	13	42164839	42164839	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:42164839C>T	ENST00000379310.3	-	41	5117	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1683						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CATCAATGATCTTGGCATCAT	0.438																																																	0													165.0	154.0	157.0					13																	42164839		1955	4149	6104	SO:0001819	synonymous_variant	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5049G>A	13.37:g.42164839C>T			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.K1683	ENST00000379310.3	37	c.5049	CCDS41881.1	13																																																																																			VWA8	-	NULL		0.438	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	C	NM_015058		42164839	-1	no_errors	ENST00000379310	ensembl	human	known	70_37	silent	SNP	1.000	T
WNT1	7471	genome.wustl.edu	37	12	49373340	49373340	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49373340G>C	ENST00000293549.3	+	2	230	c.194G>C	c.(193-195)aGc>aCc	p.S65T		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	65					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAGCTGTTGAGCCGCAAACAG	0.607																																																	0													69.0	69.0	69.0					12																	49373340		2203	4300	6503	SO:0001583	missense	7471			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.194G>C	12.37:g.49373340G>C	ENSP00000293549:p.Ser65Thr		Q5U0N2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1	p.S65T	ENST00000293549.3	37	c.194	CCDS8776.1	12	.	.	.	.	.	.	.	.	.	.	G	5.585	0.292815	0.10567	.	.	ENSG00000125084	ENST00000293549	T	0.75704	-0.96	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	N	0.10916	0.065	0.53688	D	0.999978	B	0.25563	0.129	B	0.23716	0.048	T	0.54443	-0.8293	10	0.02654	T	1	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	65	P04628	WNT1_HUMAN	T	65	ENSP00000293549:S65T	ENSP00000293549:S65T	S	+	2	0	WNT1	47659607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.097000	0.64542	2.501000	0.84356	0.655000	0.94253	AGC	WNT1	-	pfam_Wnt,smart_Wnt		0.607	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT1	HGNC	protein_coding	OTTHUMT00000408937.1	G			49373340	+1	no_errors	ENST00000293549	ensembl	human	known	70_37	missense	SNP	1.000	C
XKR4	114786	genome.wustl.edu	37	8	56015667	56015667	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:56015667G>A	ENST00000327381.6	+	1	719	c.619G>A	c.(619-621)Gct>Act	p.A207T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	207						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAGGCGAGGCTCGTCCTTC	0.697																																																	0													28.0	30.0	29.0					8																	56015667		2202	4296	6498	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.619G>A	8.37:g.56015667G>A	ENSP00000328326:p.Ala207Thr		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A207T	ENST00000327381.6	37	c.619	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183271	0.57800	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82893	-1.66	5.43	3.53	0.40419	.	2.010650	0.03481	N	0.215107	T	0.73931	0.3650	N	0.14661	0.345	0.32363	N	0.556882	B	0.24426	0.103	B	0.23574	0.047	T	0.63301	-0.6668	10	0.39692	T	0.17	-0.2295	10.4717	0.44640	0.0727:0.1344:0.7929:0.0	.	207	Q5GH76	XKR4_HUMAN	T	207	ENSP00000328326:A207T	ENSP00000328326:A207T	A	+	1	0	XKR4	56178221	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.904000	0.39868	1.300000	0.44818	0.555000	0.69702	GCT	XKR4	-	pfam_Transport_prot_XK		0.697	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	G	NM_052898		56015667	+1	no_errors	ENST00000327381	ensembl	human	known	70_37	missense	SNP	1.000	A
XPO5	57510	genome.wustl.edu	37	6	43534910	43534910	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:43534910C>T	ENST00000265351.7	-	7	1040	c.830G>A	c.(829-831)aGa>aAa	p.R277K		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	277					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACTTACTTTTCTGCTGACTGC	0.413																																																	0													54.0	51.0	52.0					6																	43534910		1929	4123	6052	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.830G>A	6.37:g.43534910C>T	ENSP00000265351:p.Arg277Lys		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R277K	ENST00000265351.7	37	c.830	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540421	0.85917	.	.	ENSG00000124571	ENST00000265351	T	0.66995	-0.24	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	L	0.49571	1.57	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.69778	-0.5053	10	0.40728	T	0.16	-16.6517	20.5827	0.99408	0.0:1.0:0.0:0.0	.	277	Q9HAV4	XPO5_HUMAN	K	277	ENSP00000265351:R277K	ENSP00000265351:R277K	R	-	2	0	XPO5	43642888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.708000	0.84633	2.941000	0.99782	0.655000	0.94253	AGA	XPO5	-	superfamily_ARM-type_fold		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	C	NM_020750		43534910	-1	no_errors	ENST00000265351	ensembl	human	known	70_37	missense	SNP	1.000	T
ZAK	51776	genome.wustl.edu	37	2	174086238	174086238	+	Intron	SNP	G	G	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:174086238G>T	ENST00000375213.3	+	11	1065				MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.D450Y|MLTK_ENST00000431503.2_Missense_Mutation_p.D349Y|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.D450Y|MLTK_ENST00000409176.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ggaggataatgaCATGGATAA	0.383																																																	0													29.0	29.0	29.0					2																	174086238		2203	4300	6503	SO:0001627	intron_variant	51776																														ENST00000375213.3:c.987+4260G>T	2.37:g.174086238G>T			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D450Y	ENST00000375213.3	37	c.1348	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304470	0.40795	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.82081	-1.16;-1.16;-1.57	5.3	4.41	0.53225	.	.	.	.	.	T	0.71333	0.3327	N	0.14661	0.345	0.25851	N	0.983934	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.61768	-0.6995	9	0.42905	T	0.14	.	13.3905	0.60821	0.0:0.0:0.8426:0.1574	.	450;450	A8K710;D4Q8H0	.;.	Y	450;450;349	ENSP00000439414:D450Y;ENSP00000340257:D450Y;ENSP00000399787:D349Y	ENSP00000340257:D450Y	D	+	1	0	AC013461.1	173794484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.230000	0.51286	1.440000	0.47531	0.655000	0.94253	GAC	MLTK	-	NULL		0.383	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174086238	+1	no_errors	ENST00000338983	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB46	140685	genome.wustl.edu	37	20	62421495	62421495	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:62421495C>T	ENST00000245663.4	-	2	766	c.616G>A	c.(616-618)Gat>Aat	p.D206N	ZBTB46_ENST00000302995.2_Missense_Mutation_p.D206N|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.D206N	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	206					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCAGGGCCATCGGCCTTGGGC	0.602																																																	0													60.0	56.0	57.0					20																	62421495		2203	4300	6503	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.616G>A	20.37:g.62421495C>T	ENSP00000245663:p.Asp206Asn		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D206N	ENST00000245663.4	37	c.616	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617476	0.28801	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.09817	2.94;2.94;2.94	5.64	3.71	0.42584	.	0.407145	0.28748	N	0.014273	T	0.11281	0.0275	L	0.53249	1.67	0.20873	N	0.999831	B	0.17465	0.022	B	0.08055	0.003	T	0.21415	-1.0246	10	0.25751	T	0.34	.	11.3463	0.49563	0.0:0.8531:0.0:0.1469	.	206	Q86UZ6	ZBT46_HUMAN	N	206	ENSP00000245663:D206N;ENSP00000303102:D206N;ENSP00000378536:D206N	ENSP00000245663:D206N	D	-	1	0	ZBTB46	61891939	0.995000	0.38212	0.193000	0.23327	0.555000	0.35460	3.661000	0.54503	0.750000	0.32877	0.650000	0.86243	GAT	ZBTB46	-	NULL		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	C	NM_025224		62421495	-1	no_errors	ENST00000245663	ensembl	human	known	70_37	missense	SNP	0.376	T
ZBTB6	10773	genome.wustl.edu	37	9	125673338	125673338	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:125673338C>A	ENST00000373659.3	-	2	1102	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	338					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TGAGATTTTTCTTCTGTGTAA	0.438																																																	0													77.0	81.0	80.0					9																	125673338		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1014G>T	9.37:g.125673338C>A	ENSP00000362763:p.Lys338Asn		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K338N	ENST00000373659.3	37	c.1014	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934001	0.52866	.	.	ENSG00000186130	ENST00000373659	T	0.16597	2.33	5.87	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.28400	0.85	0.41260	D	0.986777	D	0.69078	0.997	P	0.60789	0.879	T	0.03121	-1.1070	10	0.25751	T	0.34	.	10.6248	0.45502	0.0:0.8384:0.0:0.1616	.	338	Q15916	ZBTB6_HUMAN	N	338	ENSP00000362763:K338N	ENSP00000362763:K338N	K	-	3	2	ZBTB6	124713159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.338000	0.33873	1.616000	0.50265	0.655000	0.94253	AAG	ZBTB6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	C	NM_006626		125673338	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC3H13	23091	genome.wustl.edu	37	13	46549669	46549669	+	Missense_Mutation	SNP	T	T	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:46549669T>A	ENST00000242848.4	-	12	2565	c.2217A>T	c.(2215-2217)agA>agT	p.R739S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R739S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	739	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gttccctctctctttcccgct	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													147.0	125.0	133.0					13																	46549669		2203	4297	6500	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2217A>T	13.37:g.46549669T>A	ENSP00000242848:p.Arg739Ser		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R739S	ENST00000242848.4	37	c.2217		13	.	.	.	.	.	.	.	.	.	.	T	8.854	0.945184	0.18356	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.40476	2.03;1.03	5.19	-0.211	0.13172	.	0.000000	0.56097	D	0.000027	T	0.56307	0.1976	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.75020	0.966;0.985	T	0.51779	-0.8662	9	0.39692	T	0.17	.	10.0809	0.42388	0.0:0.3714:0.0:0.6286	.	739;739	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	739	ENSP00000242848:R739S;ENSP00000282007:R739S	ENSP00000242848:R739S	R	-	3	2	ZC3H13	45447670	0.908000	0.30866	0.841000	0.33234	0.525000	0.34531	-0.125000	0.10579	-0.154000	0.11118	-0.379000	0.06801	AGA	ZC3H13	-	NULL		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	T	NM_015070		46549669	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	0.999	A
ZC3H6	376940	genome.wustl.edu	37	2	113067694	113067694	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:113067694C>G	ENST00000409871.1	+	4	970	c.569C>G	c.(568-570)tCt>tGt	p.S190C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S190C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	190							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TCATCATTTTCTAAAGAATCA	0.368																																																	0													56.0	54.0	55.0					2																	113067694		1822	4080	5902	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.569C>G	2.37:g.113067694C>G	ENSP00000386764:p.Ser190Cys		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S190C	ENST00000409871.1	37	c.569	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987935	0.53934	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15372	2.43;2.43	5.93	3.97	0.46021	.	1.439130	0.03937	N	0.286230	T	0.28134	0.0694	L	0.43152	1.355	0.27177	N	0.960767	D	0.65815	0.995	P	0.52672	0.706	T	0.12142	-1.0559	10	0.52906	T	0.07	-11.1039	9.1571	0.36998	0.1292:0.7289:0.0:0.1419	.	190	P61129	ZC3H6_HUMAN	C	190;190;167	ENSP00000386764:S190C;ENSP00000340298:S190C	ENSP00000340298:S190C	S	+	2	0	ZC3H6	112784165	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.585000	0.36600	1.513000	0.48852	0.561000	0.74099	TCT	ZC3H6	-	NULL		0.368	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	C	NM_198581		113067694	+1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	G
ZDHHC13	54503	genome.wustl.edu	37	11	19192109	19192109	+	Silent	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:19192109C>G	ENST00000446113.2	+	15	1747	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	ZDHHC13_ENST00000399351.3_Silent_p.L412L	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	542					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.L412L(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TAAATCAACTCTTTCAGGTAT	0.328																																																	1	Substitution - coding silent(1)	NS(1)											81.0	73.0	76.0					11																	19192109		1741	3980	5721	SO:0001819	synonymous_variant	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1626C>G	11.37:g.19192109C>G			Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.L542	ENST00000446113.2	37	c.1626	CCDS44550.1	11																																																																																			ZDHHC13	-	NULL		0.328	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	C	NM_019028		19192109	+1	no_errors	ENST00000446113	ensembl	human	known	70_37	silent	SNP	1.000	G
ZFAND5	7763	genome.wustl.edu	37	9	74969816	74969816	+	3'UTR	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:74969816G>C	ENST00000237937.3	-	0	2252				ZFAND5_ENST00000376962.5_3'UTR|ZFAND5_ENST00000376960.4_3'UTR|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5						face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AAGAACACTAGAGTCCTACAC	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.*1053C>G	9.37:g.74969816G>C			A8K484	RNA	SNP	-	NULL	ENST00000237937.3	37	NULL	CCDS6642.1	9																																																																																			ZFAND5	-	-		0.413	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND5	HGNC	protein_coding	OTTHUMT00000052644.1	G			74969816	-1	no_errors	ENST00000488164	ensembl	human	known	70_37	rna	SNP	1.000	C
ZFHX3	463	genome.wustl.edu	37	16	72831666	72831666	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:72831666T>C	ENST00000268489.5	-	9	5587	c.4915A>G	c.(4915-4917)Act>Gct	p.T1639A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T725A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1639					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTCCCAGTCCCATTGCTG	0.557																																																	0													76.0	72.0	74.0					16																	72831666		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4915A>G	16.37:g.72831666T>C	ENSP00000268489:p.Thr1639Ala		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T1639A	ENST00000268489.5	37	c.4915	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	T	2.991	-0.208062	0.06180	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72835	-0.69;-0.68	5.58	5.58	0.84498	.	0.123569	0.36234	N	0.002706	T	0.55784	0.1942	L	0.34521	1.04	0.37770	D	0.926653	B	0.02656	0.0	B	0.04013	0.001	T	0.53927	-0.8369	10	0.11182	T	0.66	.	10.7295	0.46087	0.0:0.0804:0.0:0.9196	.	1639	Q15911	ZFHX3_HUMAN	A	1639;725	ENSP00000268489:T1639A;ENSP00000438926:T725A	ENSP00000268489:T1639A	T	-	1	0	ZFHX3	71389167	0.956000	0.32656	1.000000	0.80357	0.451000	0.32288	1.073000	0.30691	2.250000	0.74265	0.533000	0.62120	ACT	ZFHX3	-	NULL		0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	T	NM_006885		72831666	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	C
ZIC3	7547	genome.wustl.edu	37	X	136649777	136649777	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:136649777C>G	ENST00000287538.5	+	1	1477	c.927C>G	c.(925-927)ttC>ttG	p.F309L	ZIC3_ENST00000370606.3_Missense_Mutation_p.F309L	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	309	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTTTCAAGGCGAAGT	0.607																																																	0													69.0	76.0	74.0					X																	136649777		2203	4300	6503	SO:0001583	missense	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.927C>G	X.37:g.136649777C>G	ENSP00000287538:p.Phe309Leu		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F309L	ENST00000287538.5	37	c.927	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	c	18.05	3.536105	0.64972	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.41065	1.01;1.01	4.58	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149686	0.64402	D	0.000009	T	0.69788	0.3150	H	0.95365	3.66	0.47511	D	0.999442	D	0.64830	0.994	D	0.71414	0.973	T	0.73379	-0.4001	10	0.87932	D	0	.	7.6086	0.28115	0.0:0.8027:0.0:0.1973	.	309	O60481	ZIC3_HUMAN	L	309	ENSP00000287538:F309L;ENSP00000359638:F309L	ENSP00000287538:F309L	F	+	3	2	ZIC3	136477443	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.023000	0.49666	0.930000	0.37217	0.597000	0.82753	TTC	ZIC3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649777	+1	no_errors	ENST00000287538	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF227	7770	genome.wustl.edu	37	19	44732432	44732432	+	Intron	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:44732432G>A	ENST00000313040.7	+	4	265				ZNF227_ENST00000589707.1_Intron|ZNF227_ENST00000589237.1_3'UTR|ZNF227_ENST00000589005.1_Intron|ZNF227_ENST00000586228.1_Intron|ZNF227_ENST00000391961.2_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227						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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TTATGGGGATGAGCGTAGGAG	0.413																																																	0																																										SO:0001627	intron_variant	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.61-167G>A	19.37:g.44732432G>A			B3KRU7|B7Z5P9	RNA	SNP	-	NULL	ENST00000313040.7	37	NULL	CCDS12636.1	19																																																																																			ZNF227	-	-		0.413	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	G	NM_182490		44732432	+1	no_errors	ENST00000589237	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF134	7693	genome.wustl.edu	37	19	58131551	58131551	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:58131551G>A	ENST00000396161.5	+	3	374	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	22					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)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGTGAAGGATGAAGAGTCATC	0.448																																																	0													92.0	89.0	90.0					19																	58131551		2071	4237	6308	SO:0001583	missense	7693			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.64G>A	19.37:g.58131551G>A	ENSP00000379464:p.Glu22Lys		Q9Y4B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E22K	ENST00000396161.5	37	c.64	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544192	0.45280	.	.	ENSG00000213762	ENST00000418193;ENST00000396161	T	0.08896	3.04	3.64	1.15	0.20763	.	.	.	.	.	T	0.05456	0.0144	L	0.33339	1.005	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.46470	-0.9189	9	0.12103	T	0.63	.	5.0093	0.14304	0.3418:0.0:0.6582:0.0	.	22	P52741	ZN134_HUMAN	K	89;22	ENSP00000379464:E22K	ENSP00000379464:E22K	E	+	1	0	ZNF134	62823363	0.165000	0.22948	0.229000	0.23960	0.489000	0.33432	0.486000	0.22340	0.353000	0.24079	0.655000	0.94253	GAA	ZNF134	-	NULL		0.448	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	HGNC	protein_coding	OTTHUMT00000466808.1	G	NM_003435		58131551	+1	no_errors	ENST00000396161	ensembl	human	known	70_37	missense	SNP	0.283	A
ZNF335	63925	genome.wustl.edu	37	20	44580951	44580951	+	Silent	SNP	C	C	T	rs149107421		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:44580951C>T	ENST00000322927.2	-	20	3124	c.3024G>A	c.(3022-3024)ccG>ccA	p.P1008P	ZNF335_ENST00000426788.1_Silent_p.P853P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1008					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCAGATGGCGGTGACGGGG	0.627																																																	0								T		0,4406		0,0,2203	25.0	29.0	28.0		3024	-9.6	0.0	20	dbSNP_134	28	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZNF335	NM_022095.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1008/1343	44580951	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3024G>A	20.37:g.44580951C>T			B4DLG7|Q548D0|Q9H684	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1008	ENST00000322927.2	37	c.3024	CCDS13389.1	20																																																																																			ZNF335	-	NULL		0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44580951	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	silent	SNP	0.001	T
ZNF419	79744	genome.wustl.edu	37	19	58004450	58004450	+	Silent	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:58004450C>T	ENST00000221735.7	+	5	711	c.525C>T	c.(523-525)ctC>ctT	p.L175L	ZNF419_ENST00000354197.4_Silent_p.L163L|ZNF419_ENST00000415379.2_Silent_p.L129L|ZNF419_ENST00000424930.2_Silent_p.L176L|ZNF419_ENST00000442920.2_Silent_p.L162L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Silent_p.L163L|ZNF419_ENST00000347466.6_Silent_p.L143L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	175					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(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAGGTGTTCTCAAGCACCAGG	0.502																																																	0													44.0	46.0	46.0					19																	58004450		2203	4300	6503	SO:0001819	synonymous_variant	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.525C>T	19.37:g.58004450C>T			B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	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.L176	ENST00000221735.7	37	c.528	CCDS54326.1	19																																																																																			ZNF419	-	NULL		0.502	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	C	NM_024691		58004450	+1	no_errors	ENST00000424930	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF484	83744	genome.wustl.edu	37	9	95609151	95609151	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95609151C>T	ENST00000375495.3	-	5	2066	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	ZNF484_ENST00000395505.2_Missense_Mutation_p.E604K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E642K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E604K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	640					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)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTTCCACATTCAGCACACCTA	0.413																																																	0													80.0	79.0	79.0					9																	95609151		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1918G>A	9.37:g.95609151C>T	ENSP00000364645:p.Glu640Lys		B1AL89|B4DRI2	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.E642K	ENST00000375495.3	37	c.1924	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	14.22	2.471195	0.43942	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	2.36	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.25144	0.715	0.22185	N	0.999305	P;P	0.37573	0.6;0.6	B;B	0.44085	0.44;0.44	T	0.33574	-0.9863	9	0.66056	D	0.02	.	8.9099	0.35546	0.0:0.7676:0.2324:0.0	.	642;640	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	604;642;640;604	ENSP00000378881:E604K;ENSP00000378882:E642K;ENSP00000364645:E640K;ENSP00000364646:E604K	ENSP00000364646:E604K	E	-	1	0	ZNF484	94648972	0.000000	0.05858	0.987000	0.45799	0.976000	0.68499	-0.342000	0.07801	0.522000	0.28464	0.551000	0.68910	GAA	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95609151	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.909	T
ZNF611	81856	genome.wustl.edu	37	19	53217357	53217357	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:53217357G>C	ENST00000319783.1	-	6	417	c.101C>G	c.(100-102)tCa>tGa	p.S34*	ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000540744.1_Nonsense_Mutation_p.S34*|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000600943.1_Intron|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000543227.1_Nonsense_Mutation_p.S34*	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	34	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTCTGCCAATGAGAATTCTAT	0.438																																																	0													140.0	146.0	144.0					19																	53217357		2203	4300	6503	SO:0001587	stop_gained	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.101C>G	19.37:g.53217357G>C	ENSP00000322427:p.Ser34*		B3KRD5|Q69YG9	Nonsense_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.S34*	ENST00000319783.1	37	c.101	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	18.19	3.569436	0.65765	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	.	.	.	3.03	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.955	0.58421	0.0:0.0:1.0:0.0	.	.	.	.	X	34	.	ENSP00000322427:S34X	S	-	2	0	ZNF611	57909169	0.871000	0.30034	0.264000	0.24511	0.020000	0.10135	1.095000	0.30964	1.534000	0.49203	0.298000	0.19748	TCA	ZNF611	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	G	NM_030972		53217357	-1	no_errors	ENST00000319783	ensembl	human	known	70_37	nonsense	SNP	0.818	C
ZNF780A	284323	genome.wustl.edu	37	19	40581202	40581202	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:40581202G>A	ENST00000595687.2	-	6	1356	c.1147C>T	c.(1147-1149)Cac>Tac	p.H383Y	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.H349Y|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H384Y|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H383Y|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H384Y	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	383					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCTGTGTGAATGTTCTTA	0.413																																																	0													122.0	126.0	125.0					19																	40581202		2203	4300	6503	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1147C>T	19.37:g.40581202G>A	ENSP00000472189:p.His383Tyr		E9PB48|Q6ZN87	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.H384Y	ENST00000595687.2	37	c.1150	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022147	0.54576	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.67523	-0.27;-0.27	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.91920	3.255	0.32201	N	0.577765	P;D	0.76494	0.949;0.999	D;D	0.81914	0.917;0.995	T	0.82831	-0.0263	9	0.87932	D	0	.	8.7365	0.34532	0.0:0.0:1.0:0.0	.	384;383	E9PB48;O75290	.;Z780A_HUMAN	Y	383;384;383	ENSP00000400997:H384Y;ENSP00000341507:H383Y	ENSP00000341507:H383Y	H	-	1	0	ZNF780A	45273042	1.000000	0.71417	0.116000	0.21606	0.157000	0.22087	5.207000	0.65197	0.851000	0.35264	0.313000	0.20887	CAC	ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	G	NM_001010880		40581202	-1	no_errors	ENST00000455521	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF665	79788	genome.wustl.edu	37	19	53668443	53668443	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:53668443C>T	ENST00000600412.1	-	2	1220	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.E434K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	369					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(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACACTCATCACACCTG	0.413																																																	0													83.0	88.0	86.0					19																	53668443		2203	4300	6503	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1105G>A	19.37:g.53668443C>T	ENSP00000469154:p.Glu369Lys		A8K5T8	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.E434K	ENST00000600412.1	37	c.1300		19	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423889	0.43020	.	.	ENSG00000197497	ENST00000396424	T	0.07327	3.2	2.1	0.823	0.18812	.	.	.	.	.	T	0.10035	0.0246	N	0.21282	0.65	0.09310	N	1	D	0.56968	0.978	P	0.53401	0.725	T	0.33369	-0.9871	9	0.49607	T	0.09	.	9.6148	0.39685	0.0:0.7837:0.2163:0.0	.	434	Q9H7R5-2	.	K	434	ENSP00000379702:E434K	ENSP00000379702:E434K	E	-	1	0	ZNF665	58360255	0.000000	0.05858	0.017000	0.16124	0.191000	0.23601	-0.373000	0.07494	1.163000	0.42636	0.205000	0.17691	GAG	ZNF665	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	C	NM_024733		53668443	-1	no_errors	ENST00000396424	ensembl	human	known	70_37	missense	SNP	0.069	T
ZNF804B	219578	genome.wustl.edu	37	7	88964154	88964154	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:88964154G>A	ENST00000333190.4	+	4	2467	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	620							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)			AGTTCTAAATGATATAGATGA	0.383										HNSCC(36;0.09)																																							0													70.0	74.0	73.0					7																	88964154		2203	4300	6503	SO:0001583	missense	219578			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.1858G>A	7.37:g.88964154G>A	ENSP00000329638:p.Asp620Asn		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.D620N	ENST00000333190.4	37	c.1858	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906963	0.02434	.	.	ENSG00000182348	ENST00000333190	T	0.04862	3.54	5.49	-0.71	0.11234	.	0.811363	0.11324	N	0.575726	T	0.02727	0.0082	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.47058	-0.9146	10	0.09084	T	0.74	-6.7515	11.2466	0.49000	0.6296:0.0:0.3704:0.0	.	620	A4D1E1	Z804B_HUMAN	N	620	ENSP00000329638:D620N	ENSP00000329638:D620N	D	+	1	0	ZNF804B	88802090	0.014000	0.17966	0.642000	0.29436	0.016000	0.09150	0.618000	0.24373	-0.024000	0.13941	0.655000	0.94253	GAT	ZNF804B	-	NULL		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	G	NM_181646		88964154	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	0.003	A
ZNF814	730051	genome.wustl.edu	37	19	58384313	58384313	+	Silent	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:58384313G>A	ENST00000435989.2	-	3	2679	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	815					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGTGTTTAGTGAGACTGGAGC	0.393																																																	0													111.0	98.0	102.0					19																	58384313		692	1591	2283	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2445C>T	19.37:g.58384313G>A			A6NF35	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.L815	ENST00000435989.2	37	c.2445	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384313	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNF883	169834	genome.wustl.edu	37	9	115759798	115759798	+	lincRNA	SNP	G	G	A			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:115759798G>A	ENST00000427548.1	-	0	2015							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTGCACTCCGATTGAAGGCC	0.428																																																	0													96.0	103.0	101.0					9																	115759798		2173	4296	6469			169834			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759798G>A				RNA	SNP	-	NULL	ENST00000427548.1	37	NULL		9																																																																																			ZNF883	-	-		0.428	ZNF883-001	KNOWN	basic	lincRNA	ZNF883	HGNC	lincRNA	OTTHUMT00000053704.1	G	NM_001101338		115759798	-1	no_errors	ENST00000427548	ensembl	human	known	70_37	rna	SNP	0.000	A
ZSCAN2	54993	genome.wustl.edu	37	15	85164941	85164941	+	Silent	SNP	C	C	T	rs141281638		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:85164941C>T	ENST00000448803.2	+	3	1807	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	ZSCAN2_ENST00000546148.1_Silent_p.S505S|ZSCAN2_ENST00000327179.6_Silent_p.S504S|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.S355S|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	505					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)	p.S505S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACAAATGCAGCGAGTGTGGGA	0.587																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		1,4405	2.1+/-5.4	0,1,2202	97.0	94.0	95.0		1515	-5.1	0.0	15	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZSCAN2	NM_181877.3		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		505/615	85164941	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1515C>T	15.37:g.85164941C>T			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S505	ENST00000448803.2	37	c.1515	CCDS10329.2	15																																																																																			ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.587	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	C	NM_017894		85164941	+1	no_errors	ENST00000448803	ensembl	human	known	70_37	silent	SNP	0.000	T
